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	PID1965-P	WT	HH	HZ	NC
chr1	966758	966758	C	G	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon2:c.C138G:p.S46R,PLEKHN1:NM_001367552:exon2:c.C138G:p.S46R,PLEKHN1:NM_032129:exon2:c.C138G:p.S46R	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0208440139838	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1001804580	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.02	0.49613	D	0.088	0.41239	T	0.785	0.44430	P	0.41	0.44785	B	0.785778	0.09436	N	0.889113	1	0.08975	N	0	0.06538	N	0.94	0.44065	T	-1.18	0.34795	N	0.209	0.32591	-1.0468	0.15303	T	0.057	0.23942	T	10	0.075721145	0.11738	T	0.020844	0.43511	T	0.033	0.08068	0.181	0.08877	0.148003135375	0.14442	0.2668466641858607	0.26597	0.0182348448653	0.01780	0.433513879776	0.29689	T	0.006245	0.05676	T	-0.302246	0.08450	T	-0.671932	0.07485	T	0.0892392722378742	0.11127	T	0.69743	0.30707	T	0.085459664	0.19825	0.07508028	0.16492	0.085459664	0.19824	0.07508028	0.16492	-3.857	0.21659	T	.	.	0.196	0.43269	B	.;.;.	.;.;.	1.083376	0.14665	11.22	0.97080508410514188	0.32277	0.03205	0.08202	N	ALL	0.087044	0.17650	N	-1.03144423264579	0.07956	0.371416	-1.12605490737256	0.07205	0.3496089	0.999999871753302	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	5.43	-2.01	0.07003	-1.174000	0.03214	.	.	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1207:0.3415:0.1189:0.4189	2.413	0.04158	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	0	0	.	.	.	.	.	.	.	.	0.02632	550.33	35	chr1	966758	.	C	G	550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.309;DP=667;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.48;SOR=0.527	GT:AD:DP:GQ:PL	0/1:20,21:41:99:564,0,523	18	0	1	0
chr1	1286889	1286889	C	T	exonic	SCNN1D	.	nonsynonymous SNV	SCNN1D:NM_001130413:exon8:c.C1033T:p.H345Y	.	423	1075	22	1	1	25	0.0110396	.	.	.	3398020	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.187	.	.	0.00119808	0.0019	9.986e-05	0.0007	0	0.0002	0.0007	0.0023	0.0101	0.0015977	247	154602	rs148117452	0.0011	0.0011	0.0007	0.0014	0.0094	0.0010	0.0010	0.0089	0.0086	8.961e-05	0.0007	0.0039	5.039e-05	1.92e-05	0.0052	0.0004	0.0015	0.0094	0.0009	0.0009	0.0007	0.0012	0.0077	0.0008	0.0007	0.0057	0.0050	0.0002	0	0.0024	0.0049	0	9.409e-05	0	0.0006	0.0009	0.0077	0.262	0.41637	T	1.0	0.01155	T	.	.	.	.	.	.	0.037078	0.01828	N	2.441200	1	0.08975	N	0.55	0.14455	N	-0.41	0.69413	T	-0.83	0.22727	N	0.166	0.17966	-0.9123	0.46569	T	0.143	0.46495	T	10	0.0034227073	0.00060	T	.	.	.	0.187	0.46274	.	.	0.339555952218	0.33569	0.33326753074032284	0.33239	.	.	0.270667314529	0.06228	T	.	.	.	-0.556223	0.00267	T	-0.564218	0.15983	T	0.00711258409317843	0.00081	T	0.365963	0.08520	T	0.045180015	0.07352	0.048875142	0.07350	0.045180015	0.07351	0.048875142	0.07350	-4.973	0.36546	T	.	.	0.087	0.11654	B	.;.;.;.	.;.;.;.	0.566176	0.09345	6.128	0.95268307766201532	0.26546	0.04335	0.09896	N	AEFBI	0.033356	0.03938	N	-1.06496014048218	0.07297	0.3385567	-1.01731280407141	0.09404	0.4677106	0.997047321650338	0.35225	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.38	3.21	0.35933	0.644000	0.24455	0.259000	0.16521	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1695:0.7222:0.0:0.1083	7.582	0.27137	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	0	0	1	0	0.006546	0.010101	0.006812	0.002959	0.000000	0.000000	0.003049	0.011364	0.02632	1609.33	34	chr1	1286889	.	C	T	1609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.309;DP=781;ExcessHet=0;FS=30.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.836;SOR=1.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,51:141:99:0|1:1286887_G_C:1623,0,3513:1286887	18	0	1	0
chr1	1315610	1315610	A	C	exonic	INTS11	.	nonsynonymous SNV	INTS11:NM_001256462:exon3:c.T144G:p.D48E,INTS11:NM_001256463:exon3:c.T135G:p.D45E,INTS11:NM_017871:exon5:c.T438G:p.D146E,INTS11:NM_001256460:exon6:c.T351G:p.D117E,INTS11:NM_001256456:exon7:c.T456G:p.D152E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0154136012444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	3.834e-05	7.562e-05	0	0.0002	0.0002	6.641e-05	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.29029	T	0.5	0.24264	T	0.0	0.09854	B	0.005	0.16012	B	0.000028	0.55875	N	0.155416	0.99038	0.81001	D	0.525	0.13617	N	0.92	0.79666	T	-1.98	0.48850	N	0.154	0.21319	-1.0253	0.21985	T	0.246	0.61542	T	10	0.116285294	0.21931	T	0.015414	0.36125	T	0.136	0.36778	0.471	0.54537	0.346992582518	0.34303	0.35717973400585923	0.35631	0.498122856725	0.48292	0.613720953465	0.54842	T	0.080914	0.36476	T	-0.104333	0.35708	T	-0.387644	0.34828	T	0.259605556726456	0.23297	T	0.863014	0.61235	D	0.17811784	0.38814	0.06305662	0.12434	0.17811784	0.38813	0.06305662	0.12434	-1.076	0.07354	T	.	.	0.074	0.17275	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.581160	0.01623	0.112	0.94462933017020856	0.24903	0.30868	0.24193	N	ALL	0.098578	0.19861	N	-1.50307596989521	0.01829	0.08021294	-1.63354689133372	0.01463	0.06619128	0.99999999999989	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.648423	0.49468	0	0.711	0.71501	0	.	.	4.74	-8.98	0.00647	-0.266000	0.08660	-1.778000	0.04743	-0.629000	0.04519	0.203000	0.24344	0.000000	0.08366	0.290000	0.24260	0.2974:0.3049:0.3976:0.0	8.768	0.33872	774	0.48577	.;.;Metallo-beta-lactamase;Metallo-beta-lactamase|Metallo-beta-lactamase;Metallo-beta-lactamase;.;Metallo-beta-lactamase;Metallo-beta-lactamase|Metallo-beta-lactamase;Metallo-beta-lactamase|Metallo-beta-lactamase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	60.33	35	chr1	1315610	.	A	C	60.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.314;DP=723;ExcessHet=0;FS=24.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.31;SOR=4.569	GT:AD:DP:GQ:PL	0/1:51,18:69:74:74,0,1127	18	0	1	0
chr1	1917152	1917152	G	A	exonic	CALML6	.	nonsynonymous SNV	CALML6:NM_001330313:exon5:c.G454A:p.V152M,CALML6:NM_138705:exon6:c.G505A:p.V169M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0643927682007	.	.	3.568e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs765843274	2.197e-05	2.189e-05	8.193e-06	3.591e-05	0.0003	1.59e-05	1.361e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	4.985e-05	0.0003	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.057	0.46406	T	0.995	0.67487	D	0.912	0.64797	D	.	.	.	.	0.58409	0.31075	N	2.035	0.55589	M	-0.6	0.71662	T	-1.93	0.44852	N	0.2	0.25006	-0.3212	0.74388	T	0.410	0.75873	T	9	0.24790466	0.42079	T	0.064393	0.69263	D	0.255	0.56562	0.715	0.85051	0.726360100735	0.72393	.	.	0.298148885275	0.32199	0.415929853916	0.27275	T	0.131123	0.46042	T	-0.264369	0.12392	T	-0.353096	0.38849	T	0.225500500732781	0.21735	T	0.922708	0.72522	D	0.23479486	0.46306	0.25660384	0.51363	0.23479486	0.46306	0.25660384	0.51362	-8.196	0.62398	D	.	.	0.335	0.55562	B	.;.	.;.	2.827016	0.37262	20.5	0.99467342414412796	0.66154	0.63828	0.32211	D	AEFBI	0.171613	0.29859	N	-0.0705361769083696	0.38689	2.26986	-0.281468694373122	0.28708	1.602781	0.919707174061114	0.26610	0.554377	0.28877	0	0.59043	0.45803	0	0.536957	0.11973	0	0.567892	0.33627	0	.	.	3.43	0.439	0.15779	0.241000	0.17843	0.900000	0.22542	0.614000	0.49286	0.191000	0.24200	0.288000	0.24148	0.978000	0.57271	0.3807:0.0:0.6193:0.0	5.610	0.16680	923	0.18507	EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	656.33	43	chr1	1917152	.	G	A	656.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.171;DP=694;ExcessHet=0;FS=2.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.389;SOR=1.259	GT:AD:DP:GQ:PL	0/1:24,26:50:99:670,0,651	18	0	1	0
chr1	2502167	2502167	C	T	exonic	PLCH2	.	nonsynonymous SNV	PLCH2:NM_001303012:exon21:c.C2636T:p.S879L,PLCH2:NM_001303013:exon21:c.C2777T:p.S926L,PLCH2:NM_014638:exon21:c.C2717T:p.S906L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.321410637811	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162096233	7.37e-06	9.577e-06	5.803e-06	8.987e-06	2.879e-05	3.73e-06	2.72e-06	3.23e-06	2.34e-06	0	0	0	2.879e-05	0	0	7.516e-06	1.776e-05	0	3.284e-05	3.939e-05	3.853e-05	2.689e-05	5.88e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	2.411e-05	0	0	0	0	0	0	5.88e-05	0	0	0.001	0.78490	D	0.004	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.889623	0.08696	N	0.940575	0.999975	0.54805	D	2.865	0.83145	M	1.73	0.27822	T	-4.97	0.82221	D	0.515	0.54584	-0.7663	0.57060	T	0.228	0.59309	T	10	0.36444524	0.52989	T	0.321411	0.91485	D	0.246	0.55340	.	.	0.515490261806	0.51192	0.37111745307031135	0.37025	0.61309136302	0.55890	0.835224807262	0.87364	D	0.64412	0.89121	D	-0.196986	0.21241	T	-0.284064	0.46386	T	0.803153906997213	0.46569	D	.	.	.	0.34116617	0.56372	0.55711645	0.74382	0.34116617	0.56372	0.55711645	0.74383	-7.888	0.60305	D	.	.	0.174	0.45665	B	.;.;.	.;.;.	4.189152	0.63122	24.5	0.99891693782769009	0.96589	0.97014	0.72193	D	AEFDBCI	0.895863	0.83633	D	0.379148490087639	0.60294	4.21673	0.369361342993819	0.59682	4.148169	0.999999998576607	0.74766	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	3.75	3.75	0.42236	7.361000	0.78756	7.461000	0.59055	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.626000	0.32052	0.0:1.0:0.0:0.0	14.695	0.68727	829	0.39537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	882.33	34	chr1	2502167	.	C	T	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.971;DP=691;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.472;SOR=0.317	GT:AD:DP:GQ:PL	0/1:27,32:59:99:896,0,648	18	0	1	0
chr1	6477538	6477538	G	T	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon2:c.C34A:p.P12T,PLEKHG5:NM_001042665:exon2:c.C34A:p.P12T,PLEKHG5:NM_001265593:exon2:c.C241A:p.P81T,PLEKHG5:NM_001265594:exon2:c.C34A:p.P12T,PLEKHG5:NM_020631:exon2:c.C34A:p.P12T,PLEKHG5:NM_001042663:exon3:c.C145A:p.P49T,PLEKHG5:NM_001265592:exon3:c.C145A:p.P49T,PLEKHG5:NM_198681:exon3:c.C34A:p.P12T	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	244294	Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4|Charcot-Marie-Tooth_disease_recessive_intermediate_C|not_provided|PLEKHG5-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580|MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	0.149601944655	0.0003	0.000798722	0.0014	0.0003	0.0004	0	0	0.0004	0.0011	0.0084	0.0012484	193	154602	rs140687324	0.0007	0.0007	0.0005	0.0010	0.0085	0.0007	0.0007	0.0080	0.0078	0.0002	0.0005	0.0002	2.519e-05	0	0.0021	0.0002	0.0011	0.0085	0.0004	0.0004	0.0004	0.0004	0.0043	0.0003	0.0003	0.0029	0.0024	4.81e-05	0	0.0002	0.0003	0	0	0.0034	0.0004	0.0009	0.0043	0.005	0.63226	D	0.037	0.51737	D	0.911	0.50336	P	0.392	0.44215	B	0.000261	0.46924	D	0.147380	0.537585	0.81001	D	1.5	0.37844	L	0.65	0.71425	T	-2.99	0.63323	D	0.544	0.59986	-0.3808	0.72626	T	0.257	0.62721	T	10	0.009963274	0.00223	T	0.149602	0.83139	D	0.144	0.38394	.	.	0.776347765929	0.77428	0.2151088601651428	0.21426	0.976565210549	0.73585	0.490697264671	0.37536	T	0.565013	0.85503	D	-0.337574	0.05557	T	-0.25128	0.49690	T	0.0498441199077018	0.05473	T	0.951005	0.84742	D	0.14777207	0.33767	0.118723296	0.28657	0.13641535	0.31624	0.1322113	0.31731	-10.308	0.75735	D	.	.	0.110	0.34227	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.516845	0.32515	19.07	0.99192941050664951	0.55024	0.96660	0.70264	D	AEFDBI	0.575831	0.57806	D	0.213610288346665	0.51858	3.363941	0.225171061789757	0.51249	3.308989	0.996786494345912	0.35006	0.706548	0.73137	0	0.588066	0.40923	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.52	3.58	0.40133	3.901000	0.56015	6.337000	0.55470	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.032000	0.13371	0.0909:0.1628:0.7463:0.0	8.134	0.30206	835	0.38313	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.014946	0.005848	0.000000	0.017241	0.012195	0.003788	0.02632	1331.33	34	chr1	6477538	.	G	T	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.112;DP=734;ExcessHet=0;FS=0.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.369;SOR=0.789	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1345,0,1393	18	0	1	0
chr1	8360344	8360344	T	C	exonic	RERE	.	nonsynonymous SNV	RERE:NM_001042682:exon8:c.A1501G:p.T501A,RERE:NM_001042681:exon18:c.A3163G:p.T1055A,RERE:NM_012102:exon19:c.A3163G:p.T1055A	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0197316229329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.662	0.06469	T	0.002	0.19866	B	0.002	0.14941	B	.	.	.	.	0.996662	0.81001	D	1.845	0.48678	L	0.95	0.43279	T	-0.6	0.25118	N	0.147	0.15749	-1.0665	0.10200	T	0.078	0.31224	T	9	0.13573647	0.25829	T	0.019732	0.42166	T	0.136	0.36778	0.412	0.44887	0.536231820724	0.53273	0.366014968067863	0.36515	0.348634746703	0.36727	0.604460477829	0.53534	T	0.091067	0.38719	T	-0.150647	0.28209	T	-0.454171	0.27237	T	0.120966815294825	0.14524	T	0.70443	0.32115	T	0.1811406	0.39270	0.11644577	0.28111	0.1811406	0.39270	0.11644577	0.28110	-3.398	0.15030	T	0.13073248026283504	0.13780	0.062	0.02488	B	.;.;.;.	.;.;.;.	2.112287	0.26880	17.27	0.55689332139226755	0.05394	0.89963	0.50779	D	AEFDBCI	0.173580	0.30067	N	-0.624128227715452	0.18221	0.9442738	-0.500830591763963	0.22131	1.200559	0.99604968422068	0.34489	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.11	3.98	0.45383	1.695000	0.37381	3.947000	0.40646	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.0:0.0828:0.0:0.9172	9.695	0.39317	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	519.33	33	chr1	8360344	.	T	C	519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.696;DP=762;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.184;SOR=0.346	GT:AD:DP:GQ:PL	0/1:18,23:41:99:533,0,566	18	0	1	0
chr1	9601231	9601231	A	G	exonic	TMEM201	.	nonsynonymous SNV	TMEM201:NM_001010866:exon5:c.A733G:p.T245A,TMEM201:NM_001130924:exon5:c.A733G:p.T245A	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00267878150657	.	.	8.332e-06	0	0	0	0	0	0	6.1e-05	6.5e-06	1	154602	rs765177171	6.166e-06	6.156e-06	4.091e-06	8.262e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.397e-06	1.657e-05	2.319e-05	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.827	0.05488	T	0.0	0.02946	B	0.001	0.04355	B	0.561162	0.05425	N	1.223500	0.999999	0.08975	N	-0.83	0.01527	N	.	.	.	-0.03	0.07444	N	0.051	0.02272	-0.9946	0.31405	T	0.029	0.12409	T	9	0.027929068	0.00931	T	0.002679	0.05492	T	0.017	0.02790	0.333	0.32005	0.082315109003	0.07666	0.468926225345958	0.46811	0.259433600952	0.28498	0.328318297863	0.14680	T	0.001128	0.00635	T	-0.256881	0.13267	T	-0.509914	0.21323	T	0.0125689982726392	0.00209	T	0.471053	0.13966	T	0.011783111	0.00022	0.015301747	0.00006	0.011783111	0.00022	0.015301747	0.00006	-2.382	0.06511	T	.	.	0.057	0.00693	B	.;.	.;.	-0.606369	0.01554	0.102	0.30178668651942842	0.01638	0.03083	0.08002	N	AEFDBCI	0.036681	0.04928	N	-1.6717644007005	0.00947	0.04100743	-1.71126184215369	0.01088	0.04888134	0.999888862430901	0.44867	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.98	-7.73	0.01107	-0.013000	0.12615	-0.438000	0.09178	-0.065000	0.16512	0.001000	0.13787	0.000000	0.08366	0.050000	0.15192	0.117:0.307:0.4706:0.1054	4.802	0.12668	774	0.48577	.;Transmembrane protein 201, 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	.	.	.	.	.	.	.	.	0.02632	2338.33	33	chr1	9601231	.	A	G	2338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.159;DP=835;ExcessHet=0;FS=1.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.207;SOR=0.581	GT:AD:DP:GQ:PL	0/1:100,100:200:99:2352,0,2728	18	0	1	0
chr1	10948360	10948360	G	A	exonic	C1orf127	.	nonsynonymous SNV	C1orf127:NM_001366227:exon10:c.C1358T:p.A453V,C1orf127:NM_001170754:exon12:c.C1775T:p.A592V	.	422	1076	21	3	0	27	0.012391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00797290285848	0.0009	0.00119808	0.0026	0.0005	0.0020	0	0.0009	0.0017	0.0022	0.0098	0.0022768	352	154602	rs146525406	0.0017	0.0017	0.0014	0.0020	0.0187	0.0017	0.0016	0.0159	0.0148	0.0010	0.0023	0.0002	2.519e-05	0.0012	0.0187	0.0011	0.0030	0.0092	0.0014	0.0014	0.0011	0.0016	0.0066	0.0012	0.0012	0.0048	0.0042	0.0005	0	0.0016	0.0003	0	0.0008	0.0204	0.0015	0.0066	0.0066	0.271	0.15984	T	0.65	0.06738	T	.	.	.	.	.	.	0.300127	0.03949	N	1.523530	1	0.08975	N	.	.	.	1.72	0.26588	T	0.02	0.06739	N	0.036	0.01068	-1.0100	0.26917	T	0.024	0.10284	T	10	0.005122602	0.00111	T	0.007973	0.21136	T	0.045	0.12272	.	.	0.0297737177859	0.01360	0.036957242562973495	0.03642	0.0882746229365	0.09970	.	.	.	.	.	.	-0.579936	0.00193	T	-0.597852	0.12992	T	0.00233150370477055	0.00024	T	0.309069	0.05976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10787	B	.	.	-1.604662	0.00238	0.004	0.82054685571354746	0.13995	0.01453	0.04865	N	AEFDBI	0.064654	0.12568	N	-1.32192794275409	0.03425	0.1529782	-1.47861773859036	0.02520	0.1160492	0.0398840086541109	0.14414	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.96	-6.15	0.01925	-1.845000	0.01770	-7.420000	0.01160	-1.677000	0.00791	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4208:0.3643:0.2148:0.0	6.529	0.21514	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	0.016616	0.005051	0.017663	0.029240	0.000000	0.034483	0.018293	0.011364	0.02632	1800.33	35	chr1	10948360	.	G	A	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.271;DP=826;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=0.433;SOR=0.784	GT:AD:DP:GQ:PL	0/1:36,63:99:99:1814,0,910	18	0	1	0
chr1	12794213	12794213	A	G	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_023013:exon3:c.A586G:p.R196G	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	.	0.00299521	0.0013	0	0	0.0002	0	4.497e-05	0	0.0092	0.0011513	178	154602	rs559968047	0.0005	0.0005	0.0003	0.0008	0.0084	0.0005	0.0005	0.0079	0.0077	2.99e-05	0	0	2.534e-05	0	0.0017	2.702e-06	0.0003	0.0084	0.0003	0.0003	0.0002	0.0004	0.0090	0.0002	0.0002	0.0069	0.0061	0	0	0	0	0	0	0	0	0	0.0090	0.03	0.45393	D	0.092	0.39954	T	0.852	0.47012	P	0.56	0.49558	P	0.024709	0.01617	N	2.319220	1	0.08975	N	2.92	0.84325	M	5.54	0.00885	T	-3.75	0.71157	D	0.206	0.22870	-0.9280	0.44429	T	0.009	0.03183	T	10	0.007592708	0.00173	T	.	.	.	0.125	0.34456	0.586	0.71371	0.0954503805726	0.09146	0.31178994997065806	0.31091	1.27222038898	0.82305	0.445596665144	0.31342	T	0.079612	0.36170	T	-0.520453	0.00437	T	-0.514257	0.20878	T	0.177064208710107	0.19048	T	0.468753	0.13831	T	0.13087256	0.30524	0.07994507	0.18041	0.13087256	0.30524	0.07994507	0.18041	-4.097	0.25246	T	.	.	0.181	0.39391	B	.	.	0.891535	0.12651	9.175	0.96866315966337602	0.31400	0.00548	0.02514	N	AEFI	0.041776	0.06397	N	-0.518391673272266	0.21486	1.140572	-0.807878768498264	0.14305	0.7467635	1.19417970967804E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.74	0.482	0.16025	-1.328000	0.02787	-3.624000	0.02649	0.561000	0.28422	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6504:0.3496:0.0:0.0	4.461	0.11088	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001186	0.000000	0.000000	0.000000	0.000000	0.000000	0.003704	0.004167	0.02632	2720.33	33	chr1	12794213	.	A	G	2720.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.248;DP=1588;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.43;MQRankSum=0.749;QD=12.77;ReadPosRankSum=0.991;SOR=0.869	GT:AD:DP:GQ:PL	0/1:105,108:213:99:2734,0,2801	18	0	1	0
chr1	15358264	15358264	A	G	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon20:c.A2651G:p.E884G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0507591690018	.	0.00279553	0.0005	0.0055	0	0	0	0	0	0	0.000207	32	154602	rs61742520	0.0002	0.0002	0.0002	0.0002	0.0046	0.0002	0.0002	0.0040	0.0038	0.0046	0.0006	0	0	0	0.0030	6.889e-05	0.0006	0	0.0013	0.0013	0.0013	0.0013	0.0044	0.0012	0.0011	0.0038	0.0036	0.0044	0	0.0006	0	0	0	0	0.0001	0.0009	0	0.004	0.65419	D	0.007	0.70582	D	0.976	0.58310	D	0.551	0.49270	P	.	.	.	.	0.667132	0.30397	N	2.445	0.70938	M	0.77	0.49642	T	-3.44	0.76174	D	0.135	0.24883	-0.5974	0.64923	T	0.241	0.60964	T	9	0.005558312	0.00123	T	0.050759	0.64375	D	0.183	0.45592	.	.	0.151104730317	0.14643	0.27052238739170353	0.26965	.	.	0.531665205956	0.43269	T	0.057539	0.57830	T	-0.27636	0.11056	T	-0.168795	0.57554	T	0.0501606811345975	0.05529	T	0.766723	0.40920	T	0.21755438	0.44242	0.291631	0.55188	0.21755438	0.44242	0.291631	0.55187	-5.53	0.42148	T	.	.	0.231	0.46389	B	.;.;.;.	.;.;.;.	4.234436	0.64146	24.7	0.9980010978855921	0.88461	0.88715	0.48775	D	AEFDBI	0.446658	0.50263	N	0.267404409002281	0.54503	3.615848	0.286960322776034	0.54776	3.641786	0.999998320937101	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	2.581000	0.45742	10.992000	0.84691	0.691000	0.84096	0.979000	0.35152	1.000000	0.68203	0.756000	0.36000	1.0:0.0:0.0:0.0	11.625	0.50401	952	0.10565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	249.33	39	chr1	15358264	.	A	G	249.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.795;DP=601;ExcessHet=0;FS=1.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.297;SOR=0.368	GT:AD:DP:GQ:PL	0/1:10,12:22:99:263,0,301	18	0	1	0
chr1	16232262	16232262	C	T	exonic	CPLANE2	.	nonsynonymous SNV	CPLANE2:NM_030907:exon5:c.G563A:p.R188Q	.	423	1092	5	2	0	9	0.00410397	.	.	.	3245560	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0387962352183	0.0002	.	0.0002	0	0.0001	0	0	0.0003	0	6.898e-05	0.0001294	20	154602	rs201038756	0.0001	0.0001	0.0001	0.0001	0.0115	0.0001	0.0001	0.0092	0.0084	0.0001	6.749e-05	0.0007	0	1.988e-05	0.0115	7.378e-05	0.0003	0.0001	0.0001	0.0001	8.992e-05	0.0001	0.0002	6.505e-05	5.318e-05	9.047e-05	7.012e-05	0	0	0.0001	0	0	0	0.0068	0.0002	0	0.0002	0.435	0.09401	T	0.597	0.08025	T	0.025	0.19245	B	0.003	0.08700	B	0.002246	0.36929	N	0.291061	0.615028	0.32655	D	.	.	.	-0.77	0.73523	T	0.07	0.06138	N	0.175	0.18784	-0.8396	0.52673	T	0.171	0.51213	T	10	0.039380014	0.02424	T	0.038796	0.58435	D	0.063	0.18251	.	.	0.494700469353	0.49104	0.40507095759614803	0.40423	0.192320976914	0.21557	0.536766529083	0.43989	T	0.166332	0.51253	T	-0.298929	0.08761	T	-0.397868	0.33633	T	0.0417486069947913	0.04010	T	0.731327	0.34690	T	0.05651136	0.11129	0.040681712	0.04453	0.05651136	0.11128	0.040681712	0.04452	-4.072	0.24876	T	.	.	0.080	0.07745	B	.	.	2.473790	0.31887	18.88	0.80862647416376165	0.13405	0.72745	0.35597	D	AEFDBHCI	0.091673	0.18567	N	-0.60748373470253	0.18718	0.9740715	-0.471112080432602	0.22953	1.249333	0.999981551948606	0.51787	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.47	4.56	0.55644	1.418000	0.34389	2.695000	0.34117	0.599000	0.40250	0.681000	0.28448	0.993000	0.31925	0.033000	0.13494	0.0:0.8219:0.0:0.1781	8.199	0.30574	199	0.92292	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009577	0.005051	0.009511	0.035088	0.000000	0.025862	0.000000	0.000000	0.02632	1450.33	34	chr1	16232262	.	C	T	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=754;ExcessHet=0;FS=1.538;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.9;SOR=0.503	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1464,0,1352	18	0	1	0
chr1	16251173	16251173	C	T	exonic	FBXO42	.	nonsynonymous SNV	FBXO42:NM_018994:exon10:c.G1651A:p.V551I	.	.	.	.	.	.	.	.	.	.	.	2197283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.0231327741636	7.7e-05	.	3.313e-05	0	0	0.0001	0	4.527e-05	0	0	2.59e-05	4	154602	rs143311144	1.3e-05	1.3e-05	1.497e-05	1.1e-05	8.961e-05	8.31e-06	6.7e-06	2.374e-05	1.258e-05	8.961e-05	0	0	7.557e-05	1.873e-05	0	7.194e-06	1.656e-05	3.478e-05	3.942e-05	3.94e-05	5.139e-05	2.69e-05	7.237e-05	1.715e-05	1.129e-05	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	4.409e-05	0	0	0.005	0.91255	D	0.441	0.13290	T	0.997	0.70673	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	3.48	0.59583	T	-0.27	0.12472	N	0.355	0.39659	-0.6714	0.61765	T	0.255	0.62552	T	10	0.22373515	0.39159	T	0.023133	0.46073	T	0.142	0.37995	.	.	0.0675242888579	0.06100	0.2287317320686603	0.22788	0.79447883007	0.65982	0.572790324688	0.49072	T	0.01423	0.14390	T	-0.146822	0.28810	T	-0.222975	0.52448	T	0.321724250278226	0.25892	T	0.922308	0.71764	D	0.141356	0.32574	0.12592307	0.30334	0.141356	0.32574	0.12592307	0.30333	-4.53	0.31279	T	.	.	0.141	0.36295	B	.;.;.	.;.;.	4.505368	0.70502	25.5	0.99833416894392202	0.91456	0.98695	0.85684	D	AEFBI	0.705286	0.66072	D	0.634044628007109	0.75340	6.288609	0.682724594013978	0.81068	7.440995	0.999999999995337	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	7.071000	0.76460	6.035000	0.52961	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	18.767	0.91840	199	0.92292	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1864.33	33	chr1	16251173	.	C	T	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.27;DP=753;ExcessHet=0;FS=5.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=1.89;SOR=1.146	GT:AD:DP:GQ:PL	0/1:81,73:154:99:1878,0,2077	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:392,70:462:99:.:.:864,0,11602:.	1	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:488,83:573:99:.:.:887,0,13955:.	1	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:323,224:547:99:6537,0,10369	5	0	14	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.1579	6385.4	688	chr1	16564112	.	G	A	6385.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.15;DP=12222;ExcessHet=2.0135;FS=0.79;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=56.12;MQRankSum=3.11;QD=1.39;ReadPosRankSum=1.26;SOR=0.749	GT:AD:DP:GQ:PL	0/1:466,69:535:99:819,0,17315	13	0	6	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:377,45:422:99:.:.:144,0,15079:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:115,294:409:99:9153,0,3055	0	0	19	0
chr1	16564154	16564154	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	381	1097	44	0	0	44	0.0196604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0132	0.0050	0.0130	0	0.0075	0.0178	0.0222	0.0091	0.0106726	1650	154602	rs373123987	0	1.583e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	0.00440526	0.00090	T	.	.	.	.	.	.	.	.	.	0.02145031412142742	0.02098	.	.	0.448394954205	0.31725	T	.	.	.	-0.73495	0.00022	T	-0.891861	0.00562	T	.	.	.	0.952705	0.81989	D	.	.	.	.	.	.	.	.	-6.203	0.47947	T	.	.	0.213	0.44174	B	.;.	.;.	1.768159	0.22489	15.64	0.61310327108963714	0.06677	0.00662	0.02865	N	AEFBCI	0.027124	0.02158	N	.	.	.	.	.	.	8.32463719101556E-5	0.04703	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-1.13	0.09274	-1.769000	0.01890	-1.955000	0.04439	0.349000	0.19912	0.006000	0.17386	0.000000	0.08366	0.010000	0.09038	.	.	.	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	0.030440	0.031250	0.040761	0.045833	0.000000	0.034483	0.034965	0.004000	0.05263	841.83	508	chr1	16564154	.	G	A	841.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.73;DP=8552;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.11;MQRankSum=-1.902;QD=0.82;ReadPosRankSum=-0.737;SOR=0.786	GT:AD:DP:GQ:PL	0/1:337,52:389:99:605,0,11395	17	0	2	0
chr1	16574536	16574536	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	378	1125	19	0	0	19	0.00837373	.	.	.	2805839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0048	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs11581347	1.305e-05	3.01e-05	8.205e-06	1.795e-05	0.0002	8.35e-06	6.73e-06	0.0001	8.712e-05	0.0002	2.237e-05	0	0	0	0	4.513e-06	8.325e-05	0	8.641e-05	9.854e-05	5.198e-05	0.0001	0.0003	5.012e-05	4.005e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	0	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	.	.	.	.	.	.	.	.	0.02632	118.33	143	chr1	16574536	.	A	G	118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.136;DP=2911;ExcessHet=0;FS=26.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.8;MQRankSum=-2.971;QD=0.32;ReadPosRankSum=0.319;SOR=1.781	GT:AD:DP:GQ:PL	0/1:328,44:372:99:132,0,8934	18	0	1	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,14:48:99:0|1:16579293_A_G:482,0,1386:16579293	4	0	15	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,14:48:99:0|1:16579293_A_G:482,0,1386:16579293	4	0	15	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,20:42:99:.:.:680,0,603:.	6	0	13	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,7:41:99:.:.:115,0,1302:.	8	0	11	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	0.1316	8656.37	608	chr1	16591991	.	C	T	8656.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.82;DP=8027;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.13;MQRankSum=-1.205;QD=2.61;ReadPosRankSum=-1.032;SOR=0.694	GT:AD:DP:GQ:PL	0/1:405,54:459:99:318,0,10719	14	0	5	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	10174.8	362	chr1	16757526	.	C	G	10174.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.788;DP=7182;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=40.73;MQRankSum=-1.674;QD=3.1;ReadPosRankSum=0.131;SOR=0.642	GT:AD:DP:GQ:PL	0/1:332,49:381:99:422,0,9570	10	0	9	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	0/1:44,5:49:20:20,0,1420	1	7	11	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/1:146,26:172:99:338,0,4056	9	0	10	0
chr1	22508725	22508725	C	T	exonic	ZBTB40	.	nonsynonymous SNV	ZBTB40:NM_001330398:exon6:c.C1357T:p.R453W,ZBTB40:NM_014870:exon8:c.C1693T:p.R565W,ZBTB40:NM_001083621:exon9:c.C1693T:p.R565W	.	.	.	.	.	.	.	.	.	.	.	3624361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.407	0.0584677918145	.	0.000399361	4.178e-05	0	0	0	0	4.562e-05	0	0.0001	5.82e-05	9	154602	rs200048945	4.38e-05	4.378e-05	4.766e-05	3.99e-05	0.0002	3.51e-05	3.194e-05	8.889e-05	7.056e-05	0	2.236e-05	0	0	0	0	4.227e-05	4.973e-05	0.0002	3.285e-05	3.281e-05	2.571e-05	4.031e-05	0.0004	1.261e-05	7.98e-06	7.301e-05	3.033e-05	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.99	0.66517	D	0.53	0.54900	P	0.250733	0.15515	N	0.576652	0.991697	0.41451	D	2.015	0.55033	M	-1.75	0.83495	D	-0.79	0.26639	N	0.258	0.31365	0.092	0.84021	D	0.529	0.82482	D	10	0.24239692	0.41435	T	0.058468	0.67327	D	0.407	0.71946	0.629	0.76478	0.926355600753	0.92560	0.3516839482591388	0.35082	0.119409164691	0.13444	0.214809462428	0.01032	T	0.026649	0.19675	T	-0.116124	0.33758	T	-0.144901	0.59692	T	0.296554073197643	0.24861	T	0.915108	0.69728	D	0.09470821	0.22273	0.1064638	0.25612	0.09470821	0.22272	0.1064638	0.25611	-6.761	0.52268	T	.	.	0.095	0.26576	B	.;.;.;.	.;.;.;.	4.171240	0.62719	24.5	0.99547108339887491	0.70898	0.86280	0.45529	D	AEFDBI	0.401320	0.47585	N	0.288896877171661	0.55585	3.722555	0.316921840533386	0.56533	3.816827	0.999813839749096	0.43459	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	1.168000	0.31468	4.008000	0.41136	0.549000	0.26987	0.831000	0.30147	0.999000	0.35428	0.533000	0.29776	0.0:1.0:0.0:0.0	18.977	0.92720	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	164.33	21	chr1	22508725	.	C	T	164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.03;DP=519;ExcessHet=0;FS=3.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-0.006;SOR=2.303	GT:AD:DP:GQ:PL	0/1:4,6:10:99:178,0,116	18	0	1	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	17994.5	37	chr1	26282374	.	ACC	*	17994.5	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.73;DP=1069;ExcessHet=0.0541;FS=10.717;InbreedingCoeff=0.1965;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=1.35;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,10:46:99:0|1:26282270_C_T:1900,1442,1405:26282270	8	0	8	3
chr1	26282380	26282382	ACT	0	exonic	UBXN11	.	.	.	.	398	787	290	46	1	383	0.195297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	1020.95	37	chr1	26282380	.	ACT	*	1020.95	.	AC=12;AF=0.462;AN=26;BaseQRankSum=0.818;DP=1059;ExcessHet=0.0278;FS=14.798;InbreedingCoeff=0.1363;MLEAC=15;MLEAF=0.577;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.069;SOR=0.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,36:50:99:0|1:26282270_C_T:1393,0,455:26282270	5	4	4	6
chr1	26282383	26282405	GGGGCCGGGACCGGGACCGGGAC	0	exonic	UBXN11	.	.	.	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	*	993.49	.	AC=12;AF=0.429;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,36:50:99:0|1:26282270_C_T:1393,0,455:26282270	6	4	4	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,36:46:99:0|1:26282270_C_T:1900,420,312:26282270	7	4	5	3
chr1	26554682	26554682	G	A	exonic	RPS6KA1	.	nonsynonymous SNV	RPS6KA1:NM_001006665:exon8:c.G727A:p.V243I,RPS6KA1:NM_001330441:exon8:c.G652A:p.V218I,RPS6KA1:NM_002953:exon9:c.G700A:p.V234I	.	425	1094	3	0	0	3	0.00136924	.	.	.	2292253	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.278	0.0217873372819	0.0003	0.000199681	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0009	0.0003428	53	154602	rs141533618	0.0004	0.0004	0.0003	0.0004	0.0049	0.0004	0.0003	0.0035	0.0030	8.967e-05	6.714e-05	0.0040	0	0	0.0049	0.0003	0.0005	0.0011	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	2.406e-05	0	0.0002	0.0023	0	0	0.0034	0.0004	0.0005	0.0008	0.212	0.19500	T	0.248	0.24767	T	0.014	0.30546	B	0.012	0.24394	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.615	0.02190	N	0.03	0.62183	T	-0.86	0.23372	N	0.357	0.41360	-0.7591	0.57455	T	0.120	0.41865	T	10	0.020593107	0.00477	T	0.021787	0.44605	T	0.278	0.59497	.	.	0.511703644722	0.50811	0.467100860956812	0.46629	0.625160716341	0.56697	0.815209388733	0.84292	D	0.086498	0.37738	T	-0.2928	0.09356	T	-0.262186	0.48605	T	0.0660685642776311	0.08089	T	.	.	.	0.22766589	0.45472	0.15948509	0.37192	0.22766589	0.45472	0.15948509	0.37192	-10.182	0.74994	D	.	.	0.181	0.44267	B	.;.;.;.;.	.;.;.;.;.	5.425811	0.90754	31	0.99883093219846308	0.95892	0.98244	0.80876	D	AEFDGBI	0.874607	0.79757	D	0.00357769032128422	0.42017	2.523845	0.208367989483742	0.50312	3.22451	0.999999999995598	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.74	0.59717	8.142000	0.89535	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0749:0.0:0.9251:0.0	13.518	0.61008	350	0.85473	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2589.83	34	chr1	26554682	.	G	A	2589.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.622;DP=858;ExcessHet=0.119;FS=1.084;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.3;SOR=0.778	GT:AD:DP:GQ:PL	0/1:55,41:96:99:941,0,1315	17	0	2	0
chr1	29053167	29053167	G	A	exonic	EPB41	.	nonsynonymous SNV	EPB41:NM_203343:exon11:c.G1595A:p.G532D,EPB41:NM_001166005:exon12:c.G1700A:p.G567D,EPB41:NM_001166006:exon12:c.G1700A:p.G567D,EPB41:NM_001166007:exon12:c.G1073A:p.G358D,EPB41:NM_001376013:exon12:c.G1700A:p.G567D,EPB41:NM_001376014:exon12:c.G1700A:p.G567D,EPB41:NM_001376015:exon12:c.G1700A:p.G567D,EPB41:NM_001376016:exon12:c.G1700A:p.G567D,EPB41:NM_001376017:exon12:c.G1700A:p.G567D,EPB41:NM_001376018:exon12:c.G1697A:p.G566D,EPB41:NM_001376019:exon12:c.G1700A:p.G567D,EPB41:NM_001376020:exon12:c.G1697A:p.G566D,EPB41:NM_001376021:exon12:c.G1700A:p.G567D,EPB41:NM_001376022:exon12:c.G1073A:p.G358D,EPB41:NM_001376023:exon12:c.G1073A:p.G358D,EPB41:NM_001376024:exon12:c.G1073A:p.G358D,EPB41:NM_001376025:exon12:c.G1073A:p.G358D,EPB41:NM_001376026:exon12:c.G1070A:p.G357D,EPB41:NM_001376027:exon12:c.G1073A:p.G358D,EPB41:NM_001376028:exon12:c.G1070A:p.G357D,EPB41:NM_004437:exon13:c.G1073A:p.G358D,EPB41:NM_203342:exon13:c.G1073A:p.G358D	Elliptocytosis-1	0	1492	29	1	0	31	0.0102819	.	.	.	1321656	EPB41-related_disorder|Inborn_genetic_diseases|Elliptocytosis_1|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012731,MedGen:C2678497,OMIM:611804,Orphanet:288|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.277	0.0199769473619	0.0061	0.000199681	0.0050	0.0011	0.0023	0	0.0033	0.0077	0.0077	0.0016	0.0049417	764	154602	rs138888144	0.0061	0.0061	0.0061	0.0061	0.0165	0.0060	0.0059	0.0138	0.0128	0.0010	0.0030	0.0081	0	0.0055	0.0165	0.0069	0.0050	0.0014	0.0047	0.0047	0.0047	0.0047	0.0074	0.0044	0.0043	0.0068	0.0066	0.0012	0.0132	0.0042	0.0069	0	0.0045	0.0136	0.0074	0.0066	0.0004	0.021	0.51853	D	0.138	0.39954	T	0.004	0.26920	B	0.029	0.28749	B	0.196448	0.03288	N	1.534880	0.652487	0.32976	D	0.895	0.22405	L	-1.77	0.83660	D	-1.06	0.43906	N	0.144	0.20395	-0.7321	0.58857	T	0.309	0.67940	T	10	0.0050061643	0.00108	T	0.019977	0.42475	T	0.277	0.59375	.	.	0.930195457544	0.92948	0.3747680992223965	0.37390	0.287816497828	0.31183	0.409954726696	0.26450	T	0.236326	0.60378	T	-0.319991	0.06898	T	-0.226872	0.52074	T	0.0112944826415415	0.00167	T	0.947805	0.84537	D	0.10836176	0.25621	0.13836642	0.33047	0.1353887	0.31424	0.21048068	0.45435	-2.579	0.09861	T	.	.	0.102	0.27613	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.824098	0.55237	23.6	0.99226171492765292	0.56057	0.90623	0.51953	D	AEFGBI	0.333950	0.43287	N	-0.115002076717417	0.36739	2.127702	0.139535605570237	0.46592	2.902559	0.947295427054179	0.27746	0.706548	0.73137	0	0.724815	0.89359	0	0.786243	0.99158	0	0.635551	0.53088	0	.	.	5.91	5.91	0.95240	3.858000	0.55690	9.942000	0.82663	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0771:0.0:0.9229:0.0	12.721	0.56513	445	0.79730	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.008560	0.005051	0.013587	0.011696	0.100000	0.000000	0.003049	0.003788	0.02632	983.33	40	chr1	29053167	.	G	A	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.146;DP=697;ExcessHet=0;FS=3.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.831;SOR=1.179	GT:AD:DP:GQ:PL	0/1:28,38:66:99:997,0,744	18	0	1	0
chr1	32771251	32771251	C	G	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.C1895G:p.A632G,KIAA1522:NM_001369553:exon6:c.C1928G:p.A643G,KIAA1522:NM_020888:exon6:c.C2072G:p.A691G	.	408	1042	70	2	0	74	0.034291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0069	0.00379393	0.0082	0.0022	0.0043	0.0001	0.0015	0.0103	0.0124	0.0125	0.0078783	1218	154602	rs115626337	0.0097	0.0097	0.0096	0.0099	0.0469	0.0096	0.0095	0.0423	0.0405	0.0026	0.0044	0.0243	7.561e-05	0.0014	0.0469	0.0100	0.0113	0.0130	0.0067	0.0068	0.0067	0.0068	0.0105	0.0064	0.0063	0.0099	0.0096	0.0020	0	0.0039	0.0199	0	0.0023	0.0374	0.0105	0.0076	0.0100	0.034	0.44029	D	0.54	0.09760	T	0.218	0.30213	B	0.075	0.28327	B	0.210624	0.16374	N	0.449731	0.999394	0.46900	D	1.59	0.40313	L	2.66	0.12575	T	0.04	0.09796	N	0.212	0.23632	-1.0223	0.22965	T	0.019	0.07986	T	10	0.0028108358	0.00044	T	.	.	.	0.025	0.05312	.	.	0.123314135267	0.11883	0.2235688335380214	0.22271	0.118390049219	0.13333	0.390469789505	0.23736	T	0.002647	0.02035	T	-0.574737	0.00207	T	-0.587315	0.13899	T	0.012088385384825	0.00192	T	0.781022	0.41604	T	0.07077329	0.15617	0.07130961	0.15254	0.07077329	0.15617	0.07130961	0.15254	-4.781	0.34369	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	1.643608	0.20977	14.99	0.89004375021630677	0.18432	0.23939	0.22236	N	AEFDBCI	0.146826	0.27037	N	-0.677451775913046	0.16665	0.8510871	-0.712694711770594	0.16646	0.8815072	0.999999555097307	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.77	3.77	0.42499	3.239000	0.51058	1.282000	0.25358	0.599000	0.40250	0.281000	0.25150	0.025000	0.21018	0.013000	0.09966	0.2212:0.7788:0.0:0.0	8.999	0.35233	308	0.87611	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.041289	0.010101	0.044837	0.073099	0.000000	0.068966	0.018293	0.026515	0.05263	2919.83	161	chr1	32771251	.	C	G	2919.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.175;DP=890;ExcessHet=0.119;FS=2.24;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.6;SOR=0.696	GT:AD:DP:GQ:PL	0/1:39,30:69:99:739,0,1032	17	0	2	0
chr1	32898200	32898200	C	T	exonic	TMEM54	.	nonsynonymous SNV	TMEM54:NM_001329722:exon2:c.G136A:p.V46M,TMEM54:NM_001329723:exon2:c.G136A:p.V46M,TMEM54:NM_001329724:exon2:c.G136A:p.V46M,TMEM54:NM_001329725:exon2:c.G136A:p.V46M,TMEM54:NM_033504:exon2:c.G136A:p.V46M	.	422	1095	4	1	0	6	0.00273224	.	.	.	2358008	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0131961994525	7.7e-05	0.000599042	0.0001	0	0	0.0005	0	6.004e-05	0	0.0006	0.0001358	21	154602	rs142601765	0.0001	0.0001	0.0001	0.0002	0.0027	0.0001	0.0001	0.0023	0.0021	5.977e-05	4.474e-05	0	0.0027	0	0.0012	3.06e-05	0.0001	0.0007	0.0001	0.0001	0.0001	0.0001	0.0015	6.508e-05	5.32e-05	0.0008	0.0006	4.814e-05	0	0	0	0.0015	0	0	1.47e-05	0	0.0010	0.034	0.44029	D	0.088	0.41913	T	0.854	0.50183	P	0.253	0.39112	B	0.000370	0.45194	D	0.227351	0.999646	0.20796	N	2.02	0.55341	M	0.63	0.53088	T	-1.56	0.39503	N	0.475	0.51048	-0.9291	0.44270	T	0.083	0.32585	T	10	0.04199493	0.02906	T	0.013196	0.32416	T	0.109	0.30843	.	.	0.394837016283	0.39092	0.640843585478312	0.64019	0.597807685971	0.54967	0.46915358305	0.34564	T	0.075358	0.35159	T	-0.389207	0.02722	T	-0.432682	0.29631	T	0.0688610529168114	0.08491	T	0.845515	0.53103	T	0.060089584	0.12289	0.0745315	0.16314	0.060089584	0.12288	0.0745315	0.16313	-6.348	0.49102	T	.	.	0.150	0.44630	B	.;.	.;.	3.064159	0.41164	21.3	0.94308827516490379	0.24624	0.25734	0.22787	N	AEFBI	0.130823	0.24952	N	-0.0478969573742127	0.39695	2.345157	-0.0673195028277106	0.36749	2.142727	0.999123822560023	0.38507	0.706298	0.61202	0	0.610034	0.51514	0	0.383324	0.06259	0	0.613276	0.41899	0	.	.	5.45	4.52	0.54797	0.710000	0.25421	1.120000	0.24235	0.599000	0.40250	0.710000	0.28722	0.552000	0.25473	0.019000	0.11356	0.1885:0.662:0.0:0.1496	4.896	0.13105	483	0.77230	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	892.33	33	chr1	32898200	.	C	T	892.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.451;DP=710;ExcessHet=0;FS=5.197;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.074;SOR=0.628	GT:AD:DP:GQ:PL	0/1:52,41:93:99:906,0,1294	18	0	1	0
chr1	39412157	39412157	T	C	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.T1892C:p.L631S	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.0576272532833	0.0022	0.00199681	0.0029	0.0008	0.0017	0	0.0006	0.0025	0.0011	0.0090	0.002639	408	154602	rs113364091	0.0028	0.0028	0.0025	0.0031	0.0094	0.0027	0.0027	0.0088	0.0086	0.0005	0.0020	7.652e-05	0	0.0004	0.0035	0.0027	0.0027	0.0094	0.0021	0.0021	0.0021	0.0020	0.0083	0.0019	0.0018	0.0063	0.0055	0.0004	0	0.0033	0	0	0.0008	0.0034	0.0028	0.0028	0.0083	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.41	0.45047	0.115	0.84445	D	0.558	0.83882	D	9	0.007884145	0.00179	T	0.057627	0.67031	D	0.461	0.75822	.	.	0.528307593906	0.52478	.	.	0.0629486593884	0.07010	0.334619313478	0.15630	T	0.043712	0.26588	T	-0.277049	0.10984	T	-0.163774	0.58010	T	0.0289628606000123	0.01832	T	0.39496	0.09912	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.56317	A	.;.	.;.	2.042221	0.25957	16.95	0.99467993543323463	0.66154	0.33335	0.24803	N	AEFDBHC	0.155766	0.28101	N	0.216726812222285	0.52010	3.37799	0.185874103341695	0.49071	3.114918	0.999995946612645	0.74766	0.722319	0.85440	0	0.289287	0.05216	2	0.698795	0.65105	0	0.657601	0.63696	0	.	.	5.41	4.21	0.48984	2.157000	0.41946	4.211000	0.42532	0.665000	0.62972	0.963000	0.33788	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.1915:0.8085	8.736	0.33691	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	0.006042	0.000000	0.005435	0.002924	0.000000	0.008621	0.003049	0.015152	0.02632	1092.33	37	chr1	39412157	.	T	C	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.222;DP=726;ExcessHet=0;FS=0.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.16;SOR=0.857	GT:AD:DP:GQ:PL	0/1:54,42:96:99:1106,0,1663	18	0	1	0
chr1	41510704	41510704	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6965A:p.R2322Q,HIVEP3:NM_024503:exon9:c.G6968A:p.R2323Q	.	441	1015	63	3	0	69	0.0328728	.	.	.	3210888	HIVEP3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0033	0.0117812	0.0356	0.0037	0.0047	0	0.0112	0.0201	0.04	0.0835	0.0068046	1052	154602	rs200138511	0.0077	0.0077	0.0066	0.0088	0.0436	0.0076	0.0075	0.0424	0.0419	0.0010	0.0022	0.0082	8.225e-05	0.0020	0.0284	0.0059	0.0077	0.0436	0.0056	0.0056	0.0049	0.0064	0.0464	0.0053	0.0052	0.0414	0.0395	0.0016	0.0044	0.0052	0.0052	0.0004	0.0011	0.0442	0.0063	0.0038	0.0464	0.416	0.09958	T	0.538	0.09829	T	0.003	0.11197	B	0.001	0.04355	B	0.525819	0.05228	N	1.391920	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.64	0.02442	N	0.08	0.05542	-0.9292	0.44256	T	0.009	0.03227	T	10	0.0020682514	0.00029	T	.	.	.	0.034	0.08419	.	.	.	.	0.03731201195281724	0.03678	0.214794834796	0.24017	0.266823649406	0.05730	T	0.046228	0.27362	T	-0.750832	0.00017	T	-0.81916	0.01470	T	0.00646410931088923	0.00072	T	0.60194	0.22516	T	0.027802156	0.02024	0.022926616	0.00310	0.027802156	0.02024	0.022926616	0.00310	-3.947	0.23143	T	.	.	0.069	0.03231	B	.;.;.	.;.;.	0.081924	0.04879	1.465	0.97642700603971289	0.35091	0.08842	0.14710	N	AEFBHI	0.070481	0.13993	N	-1.0625697389421	0.07343	0.3407994	-1.03510641758133	0.09019	0.4464783	0.987168077761876	0.31199	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.9	0.154	0.14196	0.004000	0.13007	-2.331000	0.03890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.1449:0.3654:0.2839:0.2058	1.573	0.02460	455	0.79073	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013875	0.005319	0.002770	0.005917	0.000000	0.026316	0.028662	0.034091	0.02632	630.33	35	chr1	41510704	.	C	T	630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.516;DP=772;ExcessHet=0;FS=1.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.536;SOR=0.454	GT:AD:DP:GQ:PL	0/1:14,22:36:99:644,0,397	18	0	1	0
chr1	44803027	44803027	G	C	exonic	PLK3	.	nonsynonymous SNV	PLK3:NM_004073:exon7:c.G822C:p.Q274H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0113113443213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.525e-06	7.524e-06	6.807e-06	8.251e-06	8.993e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.061	0.45530	T	0.003	0.11197	B	0.021	0.19346	B	.	.	.	.	0.999943	0.51968	D	1.345	0.33447	L	-0.17	0.65563	T	-1.84	0.43149	N	0.458	0.49511	-0.9598	0.39218	T	0.141	0.46202	T	9	0.2803144	0.45606	T	0.011311	0.28804	T	0.104	0.29647	0.458	0.52427	0.788151806563	0.78618	0.56783640495798	0.56711	0.491934448559	0.47861	0.55973803997	0.47231	T	0.251296	0.62153	T	-0.0490741	0.44589	T	-0.308268	0.43845	T	0.183983629082326	0.19483	T	0.677732	0.28664	T	0.3187942	0.54538	0.20122908	0.44093	0.3187942	0.54538	0.20122908	0.44092	-5.089	0.37791	T	.	.	0.156	0.34427	B	.	.	2.345853	0.30070	18.32	0.98389997482085023	0.40947	0.85668	0.44826	D	AEFDGBCI	0.379845	0.46271	N	-0.205563275978439	0.32906	1.860911	0.000932403594275252	0.39760	2.362338	0.999999991347327	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	5.28	5.28	0.74118	0.236000	0.17745	4.543000	0.43772	0.618000	0.50648	0.986000	0.36153	1.000000	0.68203	0.998000	0.85391	0.0932:0.0:0.9068:0.0	11.324	0.48675	0	0.99858	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2436.33	34	chr1	44803027	.	G	C	2436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.831;DP=894;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.342;SOR=0.811	GT:AD:DP:GQ:PL	0/1:111,102:213:99:2450,0,3125	18	0	1	0
chr1	46934272	46934272	G	A	exonic	CYP4A11	.	nonsynonymous SNV	CYP4A11:NM_000778:exon8:c.C992T:p.S331F,CYP4A11:NM_001319155:exon8:c.C896T:p.S299F	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.0861899954747	0.0008	.	0.0009	0.0002	0.0021	0	0	0.0010	0.0045	0.0004	0.000718	111	154602	rs141672858	0.0010	0.0010	0.0011	0.0010	0.0016	0.0010	0.0010	0.0012	0.0011	0.0001	0.0011	0.0003	2.52e-05	7.493e-05	0.0016	0.0012	0.0012	0.0005	0.0005	0.0006	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0007	0.0001	0	0.0003	0.0009	0	0	0	0.0010	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000005	0.62929	D	0.110212	0.999972	0.81001	D	4.405	0.98666	H	-0.45	0.69896	T	-5.19	0.83625	D	0.894	0.89353	0.355	0.88422	D	0.565	0.84226	D	10	0.75245	0.75737	D	0.08619	0.74686	D	0.805	0.93660	.	.	0.9037212576	0.90276	0.6734495254267416	0.67282	0.327512791285	0.34889	0.481553554535	0.36271	T	0.613794	0.87798	D	0.0781285	0.61820	D	0.289009	0.87611	D	0.225469825966524	0.21734	T	0.940706	0.78893	D	0.9465529	0.95915	0.92099816	0.96469	0.9465529	0.95915	0.92099816	0.96469	-12.882	0.88871	D	.	.	0.907	0.83245	P	.;.;.	.;.;.	4.483929	0.69979	25.5	0.99811403654616593	0.89531	0.97977	0.78580	D	AEFGI	0.861744	0.77988	D	0.750289702748649	0.82922	7.884476	0.65726366958837	0.79152	7.022477	0.0944489511638022	0.16205	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	4.3	0.50540	6.719000	0.74533	3.839000	0.40032	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.249000	0.23237	0.0:0.1347:0.8653:0.0	16.054	0.80587	591	0.68823	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001104	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2347.33	35	chr1	46934272	.	G	A	2347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.178;DP=1088;ExcessHet=0;FS=2.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.73;MQRankSum=-0.654;QD=13.81;ReadPosRankSum=0.223;SOR=0.806	GT:AD:DP:GQ:PL	0/1:83,87:170:99:2361,0,2309	18	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	11397.8	13	chr1	50419106	.	G	*	11397.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.18;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.211;MQ=59.95;MQRankSum=0;QD=28.28;ReadPosRankSum=0.367;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:14:99:1|0:50419101_CCGGCGG_C:621,309,387:50419101	11	0	8	0
chr1	51118793	51118793	C	T	exonic	C1orf185	.	stopgain	C1orf185:NM_001136508:exon3:c.C250T:p.Q84X	.	465	1049	7	1	0	9	0.00427148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0056	0.0037	0	0	0.0006	0.0055	0	0.0084	0.001837	284	154602	rs184105748	0.0075	0.0074	0.0075	0.0076	0.0085	0.0074	0.0073	0.0083	0.0083	0.0013	0.0038	0.0013	3.016e-05	0.0005	0.0032	0.0085	0.0082	0.0069	0.0050	0.0050	0.0055	0.0045	0.0082	0.0047	0.0046	0.0076	0.0074	0.0017	0.0011	0.0050	0.0014	0	0.0006	0	0.0082	0.0057	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	0.117705	0.19142	N	0.278962	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.239	0.27554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244653	0.78099	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	6.746823	0.95677	35	0.99827579865250016	0.90939	0.34796	0.25152	N	AEFBI	0.045155	0.07351	N	0.658891595955793	0.76947	6.580961	0.383104785501426	0.60524	4.240833	0.00366378266333634	0.10226	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.44	4.44	0.53164	3.110000	0.50045	2.842000	0.35086	0.549000	0.26987	0.256000	0.24909	0.251000	0.23919	0.560000	0.30412	0.0:1.0:0.0:0.0	13.300	0.59754	0	0.99858	.;.;.;.	.	.	.	.	.	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	0.005076	0.000000	0.000000	0.004464	0.000000	0.045455	0.000000	0.027778	0.02632	578.33	35	chr1	51118793	.	C	T	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.695;DP=658;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.383;SOR=0.77	GT:AD:DP:GQ:PL	0/1:20,25:45:99:592,0,474	18	0	1	0
chr1	52881538	52881538	A	G	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001307931:exon10:c.A791G:p.N264S,ZYG11A:NM_001004339:exon11:c.A1817G:p.N606S	.	426	1060	35	1	0	37	0.0171535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00371419927087	0.0018	0.00299521	0.0039	0.0004	0.0048	0.0032	0.0006	0.0077	0.0081	0.0011	0.0011255	174	154602	rs74990705	0.0027	0.0026	0.0027	0.0028	0.0405	0.0027	0.0026	0.0363	0.0346	0.0015	0.0073	0.0180	0.0144	4.046e-05	0.0405	0.0017	0.0057	0.0013	0.0033	0.0033	0.0033	0.0033	0.0094	0.0031	0.0030	0.0082	0.0077	0.0008	0	0.0094	0.0196	0.0046	0	0.0714	0.0028	0.0090	0.0006	0.682	0.04404	T	0.548	0.10317	T	0.0	0.02946	B	0.001	0.04355	B	0.000544	0.43413	N	0.255590	0.999947	0.19238	N	-2.26	0.00106	N	0.86	0.46777	T	0.42	0.04380	N	0.119	0.10911	-1.0037	0.28844	T	0.017	0.06855	T	10	0.0032631755	0.00056	T	0.003714	0.08589	T	0.089	0.25827	.	.	0.0401082797425	0.02173	0.03835971225478573	0.03781	.	.	0.25982233882	0.04869	T	9.34E-4	0.00486	T	-0.68568	0.00044	T	-0.754957	0.03297	T	0.00477553847960825	0.00051	T	0.577542	0.26116	T	0.017094184	0.00246	0.02259496	0.00281	0.017094184	0.00245	0.02259496	0.00281	-0.424	0.00539	T	.	.	0.051	0.00158	B	.;.;.	.;.;.	0.763070	0.11331	7.949	0.42575992168650695	0.03148	0.20857	0.21194	N	AEFBI	0.042008	0.06462	N	-1.38617335773232	0.02767	0.1226422	-1.23648374870167	0.05335	0.2539068	3.74918051257091E-5	0.03775	0.646311	0.45356	0	0.844039	0.99811	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.56	1.51	0.22094	4.256000	0.58601	3.624000	0.39294	-0.991000	0.01849	1.000000	0.71638	0.772000	0.26708	0.385000	0.26447	0.1551:0.0:0.7126:0.1323	8.391	0.31689	154	0.93967	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.041565	0.053191	0.059701	0.061947	0.000000	0.041667	0.005882	0.025000	0.07895	3743.79	35	chr1	52881538	.	A	G	3743.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.09;DP=854;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.157;SOR=0.671	GT:AD:DP:GQ:PL	0/1:49,38:87:99:978,0,1232	16	0	3	0
chr1	54813813	54813813	-	A	splicing	LEXM	NM_152607:exon7:c.763-1->A;NM_001110533:exon7:c.763-1->A	.	.	.	425	1015	81	1	0	83	0.0392806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00778754	0.0106	0.0026	0.0041	0	0.0076	0.0104	0.0161	0.0281	0.0029968	78	26028	rs1308898806	0.0091	0.0091	0.0084	0.0097	0.0266	0.0089	0.0089	0.0257	0.0253	0.0012	0.0037	0.0030	2.534e-05	0.0099	0.0248	0.0085	0.0089	0.0266	0.0066	0.0066	0.0062	0.0070	0.0245	0.0063	0.0061	0.0209	0.0196	0.0016	0.0033	0.0035	0.0032	0.0002	0.0096	0.0103	0.0093	0.0081	0.0245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	236.29	34	chr1	54813813	.	G	GA	236.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.063;DP=645;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=1.36;SOR=0.892	GT:AD:DP:GQ:PL	0/1:12,11:23:99:250,0,291	18	0	1	0
chr1	61864390	61864390	G	A	exonic	PATJ	.	nonsynonymous SNV	PATJ:NM_001350145:exon20:c.G2592A:p.M864I,PATJ:NM_176877:exon20:c.G2592A:p.M864I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0040	0.00259585	0.0012	0.0086	0.0020	0	0	0.0005	0.0011	0	0.001119	173	154602	rs114708702	0.0005	0.0005	0.0006	0.0005	0.0071	0.0005	0.0005	0.0064	0.0061	0.0071	0.0019	0.0004	0	1.872e-05	0.0033	0.0003	0.0012	1.159e-05	0.0027	0.0027	0.0031	0.0023	0.0082	0.0025	0.0024	0.0075	0.0072	0.0082	0	0.0019	0.0006	0	0	0	0.0005	0.0028	0	0.388	0.10909	T	0.462	0.12526	T	0.008	0.14655	B	0.006	0.12133	B	0.014075	0.28644	N	0.326888	0.999793	0.20333	N	2.35	0.67516	M	2.73	0.11839	T	-0.13	0.08971	N	0.078	0.11197	-1.0851	0.06389	T	0.023	0.09923	T	10	0.004035473	0.00078	T	.	.	.	0.019	0.03383	0.195	0.10705	0.417208245017	0.41340	0.27781392980347386	0.27694	0.161333702851	0.18212	0.321704268456	0.13679	T	0.003136	0.09394	T	-0.611513	0.00124	T	-0.644491	0.09345	T	0.00793864016992627	0.00094	T	0.763624	0.39028	T	0.07041037	0.15505	0.081247546	0.18448	0.07041037	0.15505	0.081247546	0.18448	-2.981	0.09978	T	.	.	0.315	0.54153	B	.;.;.;.	.;.;.;.	2.189825	0.27918	17.62	0.95417995909662889	0.26892	0.81637	0.41001	D	AEFBI	0.053471	0.09637	N	-0.253342003784961	0.30970	1.731995	-0.135634153803705	0.33966	1.948592	0.0222015760573944	0.13412	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.48	3.45	0.38602	1.096000	0.30587	4.379000	0.43175	0.676000	0.76740	0.981000	0.35396	1.000000	0.68203	0.923000	0.45890	0.0:0.1353:0.585:0.2797	9.874	0.40360	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	0.003021	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1382.33	34	chr1	61864390	.	G	A	1382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.003;DP=760;ExcessHet=0;FS=1.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.765;SOR=0.53	GT:AD:DP:GQ:PL	0/1:72,52:124:99:1396,0,1935	18	0	1	0
chr1	62266785	62266785	G	A	exonic	KANK4	.	nonsynonymous SNV	KANK4:NM_001320269:exon5:c.C382T:p.R128W,KANK4:NM_181712:exon6:c.C2266T:p.R756W	.	426	1095	1	0	0	1	0.000456413	.	.	.	2895467	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0118778932789	.	0.000199681	0.0002	9.779e-05	8.664e-05	0.0001	0	0.0003	0	0.0004	0.0002329	36	154602	rs144855300	0.0001	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0004	0.0004	2.99e-05	0.0001	0.0025	7.562e-05	1.873e-05	0.0009	7.475e-05	0.0001	0.0005	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0002	9.011e-05	0.0002	0	0	0.0052	0	0	0	0.0001	0	0.0006	0.2	0.44029	T	0.032	0.59732	D	0.004	0.18677	B	0.006	0.12133	B	0.643378	0.10578	N	0.768630	0.834588	0.28714	N	2.3	0.65703	M	0.82	0.48142	T	-2.79	0.59059	D	0.18	0.19459	-0.9299	0.44153	T	0.153	0.48257	T	10	0.017367512	0.00370	T	0.011878	0.29939	T	0.151	0.39764	0.542	0.65446	0.434160288164	0.43035	0.4117774789218481	0.41093	0.114630433972	0.12926	0.213644072413	0.00975	T	0.181592	0.71496	T	-0.354865	0.04429	T	-0.417514	0.31360	T	0.368989586830139	0.27759	T	0.311769	0.06085	T	0.16654775	0.36996	0.17620201	0.40137	0.16654775	0.36996	0.17620201	0.40137	-6.086	0.46993	T	.	.	0.087	0.10979	B	.;.;.	.;.;.	4.074000	0.60556	24.2	0.99204798858375676	0.55381	0.96179	0.67897	D	AEFBIJ	0.621972	0.60647	D	-0.105710269220119	0.37144	2.156783	-0.00437949776457848	0.39516	2.34423	0.990477909101101	0.32165	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.73	4.73	0.59485	4.673000	0.61297	4.436000	0.43368	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0:0.0:1.0:0.0	18.585	0.91142	879	0.29470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	316.33	34	chr1	62266785	.	G	A	316.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.504;DP=696;ExcessHet=0;FS=2.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=-0.978;SOR=0.269	GT:AD:DP:GQ:PL	0/1:22,17:39:99:330,0,579	18	0	1	0
chr1	67127166	67127166	C	G	exonic	C1orf141	.	nonsynonymous SNV	C1orf141:NM_001276351:exon3:c.G75C:p.K25N,C1orf141:NM_001276352:exon3:c.G75C:p.K25N	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00725023092966	.	.	2.474e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs751871898	2.485e-05	2.6e-05	2.335e-05	2.636e-05	0.0038	1.819e-05	1.615e-05	0.0026	0.0022	0	9.276e-05	0	0	0	0.0038	4.524e-06	8.336e-05	0	9.859e-05	9.852e-05	3.855e-05	0.0002	0.0010	6.008e-05	4.881e-05	0.0006	0.0005	0	0	0.0010	0	0	0	0	0	0	0	0.045	0.40832	D	0.0	0.92824	D	0.932	0.51990	P	0.872	0.61918	P	0.063148	0.22046	N	0.327791	0.986236	0.24636	N	1.1	0.28011	L	1.31	0.35405	T	-3.48	0.69118	D	0.234	0.30687	-1.0868	0.06084	T	0.049	0.21026	T	9	0.122320145	0.23201	T	0.00725	0.19225	T	0.067	0.19503	0.257	0.19845	0.117506650769	0.11410	0.06268753911145926	0.06208	0.215792106592	0.24110	.	.	.	0.032139	0.22356	T	-0.377844	0.03215	T	-0.543854	0.17920	T	0.545806705951691	0.34321	D	0.779122	0.41374	T	0.20035608	0.42008	0.20409837	0.44518	0.20035608	0.42008	0.20409837	0.44517	-4.381	0.29298	T	.	.	0.525	0.66536	A	.;.;.;.;.;.	.;.;.;.;.;.	6.107893	0.94578	34	0.99631336761625366	0.76081	0.77392	0.38046	D	AEFBI	0.316778	0.42096	N	0.103989965691919	0.46649	2.902006	0.0521983161948494	0.42178	2.546685	0.367525750888415	0.19838	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.13	3.2	0.35826	1.610000	0.36480	5.569000	0.48938	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.421000	0.27250	0.2075:0.7925:0.0:0.0	9.578	0.38632	566	0.70798	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.002717	0.014620	0.000000	0.000000	0.000000	0.000000	0.02632	1372.33	33	chr1	67127166	.	C	G	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.149;DP=734;ExcessHet=0;FS=1.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.711;SOR=0.537	GT:AD:DP:GQ:PL	0/1:64,65:129:99:1386,0,1533	18	0	1	0
chr1	108914358	108914358	C	T	exonic	GPSM2	.	nonsynonymous SNV	GPSM2:NM_001321038:exon11:c.C1213T:p.R405C,GPSM2:NM_001321039:exon11:c.C1213T:p.R405C,GPSM2:NM_013296:exon11:c.C1213T:p.R405C	Chudley-McCullough syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1295078	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.758	0.25982339326	7.7e-05	.	8.264e-06	0	0	0	0	0	0	6.064e-05	6.5e-06	1	154602	rs375362439	8.219e-06	1.095e-05	1.091e-05	5.506e-06	4.472e-05	4.38e-06	3.46e-06	7.41e-06	2.77e-06	2.99e-05	4.472e-05	0	0	1.873e-05	0	4.502e-06	1.658e-05	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.852	0.60758	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.42	0.94348	D	-5.01	0.82450	D	0.851	0.84713	0.860	0.95156	D	0.842	0.94729	D	10	0.9114708	0.90512	D	0.259823	0.89461	D	0.758	0.91753	.	.	0.984061175176	0.98388	0.5930549423237403	0.59235	1.00575651831	0.74578	0.545206546783	0.45180	T	0.45983	0.79725	T	0.059114	0.59501	T	0.0229836	0.71823	D	0.996114730834961	0.88696	D	0.937406	0.76468	D	0.6483912	0.75278	0.41234532	0.65440	0.6483912	0.75279	0.41234532	0.65440	-8.314	0.63190	D	0.27575291899165905	0.37020	0.203	0.57769	B	.;.;.	.;.;.	5.450835	0.91052	32	0.99933329384800396	0.99488	0.94119	0.60170	D	AEFBI	0.656762	0.62863	D	0.637087920287779	0.75534	6.323287	0.612028769930558	0.75814	6.377271	0.999089195144207	0.38397	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.86	4.95	0.64894	2.723000	0.46947	4.768000	0.44756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1341:0.7981:0.0:0.0678	10.306	0.42860	860	0.33753	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1430.33	37	chr1	108914358	.	C	T	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.971;DP=800;ExcessHet=0;FS=1.508;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.895;SOR=0.558	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1444,0,1148	18	0	1	0
chr1	114686902	114686902	C	T	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon3:c.G311A:p.R104H,AMPD1:NM_000036:exon4:c.G224A:p.R75H	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	1	1450	69	2	0	73	0.0245543	.	.	.	177319	Muscle_AMP_deaminase_deficiency|not_provided|AMPD1-related_disorder|not_specified	MONDO:MONDO:0014220,MedGen:C3714933,OMIM:615511,Orphanet:45|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.093	.	0.0029	0.00479233	0.0051	0.0016	0.0036	0.0003	0.0005	0.0051	0.0132	0.0121	0.00478	739	154602	rs61738827	0.0038	0.0038	0.0034	0.0042	0.0165	0.0037	0.0037	0.0138	0.0128	0.0010	0.0032	0.0231	0.0001	0.0005	0.0165	0.0030	0.0054	0.0121	0.0036	0.0036	0.0034	0.0037	0.0145	0.0033	0.0032	0.0118	0.0108	0.0010	0.0011	0.0043	0.0239	0	0.0002	0.0136	0.0038	0.0095	0.0145	0.028	0.47320	D	0.109	0.37872	T	.	.	.	.	.	.	0.002416	0.00885	U	11.368800	0.987684	0.40632	D	2.045	0.56016	M	0.97	0.42502	T	-0.15	0.09796	N	0.289	0.32921	-0.9990	0.30199	T	0.109	0.39509	T	10	0.0043738484	0.00089	T	.	.	.	0.093	0.26882	.	.	0.71889551114	0.71642	0.3105258791752021	0.30965	0.105181179434	0.11892	0.356991648674	0.18946	T	0.368652	0.73350	T	-0.485421	0.00689	T	-0.459019	0.26707	T	0.0192262107775266	0.00628	T	0.70223	0.31206	T	0.08808499	0.20535	0.06575114	0.13373	0.099119626	0.23387	0.07012084	0.14860	-4.017	0.24072	T	.	.	0.099	0.21428	B	.;.	.;.	2.835667	0.37399	20.5	0.99748629097363373	0.84077	0.92457	0.55756	D	AEFBI	0.120830	0.23519	N	0.219453574693732	0.52143	3.390361	0.254924878545914	0.52931	3.464669	0.0102450568174137	0.11992	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	4.5	0.54382	2.272000	0.43032	1.774000	0.28659	0.599000	0.40250	0.972000	0.34453	0.999000	0.35428	0.997000	0.79791	0.0:0.9199:0.0:0.0801	12.292	0.54142	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.000000	0.008152	0.020468	0.100000	0.008621	0.048780	0.007576	0.05263	2064.83	34	chr1	114686902	.	C	T	2064.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.07;DP=749;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.12;SOR=0.751	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1088,0,645	17	0	2	0
chr1	120454027	120454027	A	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon13:c.A1498T:p.I500F	.	431	1076	14	1	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782470334	0.0023	0.0023	0.0022	0.0023	0.0094	0.0022	0.0022	0.0072	0.0065	0.0006	0.0009	0.0051	0	7.488e-05	0.0094	0.0025	0.0030	0.0011	0.0017	0.0018	0.0019	0.0016	0.0028	0.0016	0.0015	0.0024	0.0023	0.0004	0.0011	0.0018	0.0052	0	0	0.0069	0.0028	0.0033	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	.	.	.	.	.	.	.	.	0.02632	2077.33	37	chr1	120454027	.	A	T	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.696;DP=824;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.75;MQRankSum=-2.662;QD=12.08;ReadPosRankSum=-0.674;SOR=0.687	GT:AD:DP:GQ:PL	0/1:80,92:172:99:2091,0,1833	18	0	1	0
chr1	120816630	120816630	A	C	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon10:c.A1388C:p.Q463P	.	523	990	9	0	0	9	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00103900310276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782021014	0.0005	0.0050	0.0004	0.0006	0.0023	0.0004	0.0004	0.0020	0.0018	0.0022	0.0015	0.0001	0.0003	0.0006	0	0.0003	0.0004	0.0023	0.0012	0.0087	0.0010	0.0015	0.0019	0.0010	0.0010	0.0010	0.0009	0.0014	0	0.0009	0.0008	0.0019	0.0013	0	0.0013	0.0026	0	.	.	.	0.204	0.62352	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.359	0.40063	-1.0422	0.16651	T	0.021	0.08778	T	9	0.09983155	0.18143	T	3.87E-4	0.00065	T	.	.	.	.	0.0297737177859	0.01360	0.22769245963978335	0.22684	.	.	.	.	.	.	.	.	-0.0299573	0.47423	T	-0.280808	0.46722	T	0.0504873322125521	0.05584	T	0.615438	0.26282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.23255	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.863480	0.12360	8.898	0.91136521014520167	0.20390	0.00796	0.03248	N	AEFBI	0.135307	0.25560	N	-0.744164548179835	0.14792	0.7398978	-0.942789091635799	0.11091	0.5629054	0.0177842938130526	0.12989	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	0.811	0.811	0.17881	0.559000	0.23190	-4.145000	0.02317	0.101000	0.17621	0.150000	0.23655	0.000000	0.08366	0.433000	0.27516	1.0:0.0:0.0:0.0	3.935	0.08801	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	92.54	34	chr1	120816630	.	A	C	92.54	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.419;DP=507;ExcessHet=0.3892;FS=64.783;InbreedingCoeff=-0.1259;MLEAC=3;MLEAF=0.088;MQ=33.23;MQRankSum=-2.237;QD=1.71;ReadPosRankSum=1.75;SOR=4.97	GT:AD:DP:GQ:PL	0/1:12,4:16:53:53,0,405	14	0	3	2
chr1	146144609	146144609	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon1:c.G161A:p.R54Q,NBPF10:NM_001302371:exon1:c.G161A:p.R54Q	.	575	946	1	0	0	1	0.000528262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000203946063937	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs7526045	8.12e-05	0.0003	8.523e-05	7.721e-05	0.0002	6.718e-05	6.218e-05	6.796e-05	4.919e-05	0.0001	0.0002	0	0.0001	0.0002	0	6.349e-05	0.0002	0.0001	0.0002	0.0003	0.0001	0.0002	0.0014	0.0001	8.844e-05	0.0007	0.0005	0	0	0.0014	0	0.0013	0	0	2.54e-05	0	0	.	.	.	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.31	0.02412	T	.	.	.	0.101	0.08366	.	.	.	.	.	.	.	0.04268834	0.03041	T	.	.	.	.	.	.	.	.	.	0.45959924141430397	0.45877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365463	0.08501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05935	B	.	.	-0.723973	0.01266	0.066	.	.	.	.	.	.	0.013733	0.00193	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.255000	0.08789	-1.122000	0.06265	-1.901000	0.00524	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	234.72	36	chr1	146144609	.	C	T	234.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.25;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=36.81;MQRankSum=-5.15;QD=3.5;ReadPosRankSum=1.75;SOR=0.593	GT:AD:DP:GQ:PL	0/1:52,15:67:99:248,0,1262	17	0	1	1
chr1	146987977	146987977	T	C	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon29:c.T3140C:p.V1047A	.	585	925	12	0	0	12	0.00644468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000292727078143	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201670582	0.0006	0.0047	0.0005	0.0007	0.0016	0.0005	0.0005	0.0012	0.0011	0.0007	0.0016	0.0008	0.0001	0.0017	0	0.0004	0.0007	0.0008	3.414e-05	0.0002	3.99e-05	2.806e-05	0.0002	1.298e-05	8.25e-06	8.44e-06	3.16e-06	5.094e-05	0	6.872e-05	0	0.0002	9.944e-05	0	0	0	0	.	.	.	1.0	0.33442	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.041	0.02759	-0.9272	0.44545	T	0.002	0.00707	T	5	0.03807187	0.02202	T	2.93E-4	0.00021	T	.	.	.	.	0.0297737177859	0.01360	0.005606807826563626	0.00530	.	.	.	.	.	0.012892	0.11252	T	-0.3762	0.03292	T	-0.778161	0.02510	T	0.102979525331736	0.12682	T	0.430157	0.21304	T	0.037774272	0.04907	0.100568555	0.24050	0.037774272	0.04906	0.100568555	0.24050	-9.292	0.69557	D	.	.	0.105	0.30502	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.755983	0.01197	0.059	0.15084805958000494	0.00356	0.00021	0.00226	N	AEFI	0.020281	0.00785	N	-1.83444603345663	0.00466	0.02006262	-2.06996451119044	0.00217	0.009541837	6.10642097802735E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.572	-1.14	0.09241	-1.771000	0.01887	-20.000000	0.00162	-0.536000	0.04945	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	778	0.48011	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1538	187.94	13	chr1	146987977	.	T	C	187.94	.	AC=4;AF=0.154;AN=26;BaseQRankSum=2.87;DP=400;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.0907;MLEAC=4;MLEAF=0.154;MQ=34.78;MQRankSum=0.157;QD=4.95;ReadPosRankSum=-0.534;SOR=0.765	GT:AD:DP:GQ:PL	0/1:15,3:18:52:52,0,442	10	1	2	6
chr1	148578002	148578002	G	A	exonic	NBPF14	.	stopgain	NBPF14:NM_015383:exon13:c.C1834T:p.Q612X	.	465	1054	3	0	0	3	0.00142113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1322664229	0.0004	0.0005	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	6.609e-05	0.0002	0.0025	0	0	0	0.0005	0.0002	8.923e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	3.015e-05	0	0	0.0013	0	0	0	0.0004	0	0	.	.	.	0.113	0.36901	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.05929	.	.	.	.	.	.	.	0.06157303	0.07741	T	0.009326	0.24483	T	.	.	.	.	0.283371740733	0.27958	.	.	.	.	.	.	.	.	.	.	-0.41155	0.01941	T	-0.828939	0.01281	T	0.0931139172751688	0.11582	T	0.49875	0.15541	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.28976	B	.;.;.	.;.;.	4.986908	0.82651	27.8	0.72048637563857765	0.09838	0.00139	0.00851	N	AEFI	.	.	.	-0.721608382384958	0.15415	0.7766805	-0.790023628338813	0.14739	0.7717307	1.09648973830877E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	.	.	.	1.168000	0.31468	-2.603000	0.03559	-0.383000	0.05380	0.019000	0.19563	0.000000	0.08366	0.000000	0.00833	.	.	.	929	0.16858	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	.	.	.	.	.	.	.	.	0.02632	779.33	37	chr1	148578002	.	G	A	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.157;DP=696;ExcessHet=0;FS=2.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.29;MQRankSum=1.5;QD=15.9;ReadPosRankSum=0.421;SOR=1.421	GT:AD:DP:GQ:PL	0/1:23,26:49:99:793,0,689	18	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/1:170,102:272:99:2475,0,6102	8	0	11	0
chr1	150151009	150151009	-	CCCCC	exonic	PLEKHO1	.	frameshift insertion	PLEKHO1:NM_016274:exon2:c.128_129insCCCCC:p.R44Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	255.29	34	chr1	150151009	.	A	ACCCCC	255.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.326;DP=736;ExcessHet=0;FS=66.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.41;ReadPosRankSum=0.028;SOR=5.89	GT:AD:DP:GQ:PL	0/1:92,14:110:99:269,0,3802	18	0	1	0
chr1	150994697	150994697	C	T	exonic	ANXA9	.	stopgain	ANXA9:NM_003568:exon13:c.C973T:p.Q325X	.	.	.	.	.	.	.	.	0.9998	0.99	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	3.302e-05	0	0.0003	0	0	0	0.0011	0	2.59e-05	4	154602	rs189667604	6.158e-06	6.156e-06	6.808e-06	5.501e-06	0.0002	2.9e-06	2.1e-06	0.0001	7.817e-05	0	0.0002	0	0	0	0	0	0	0	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0003	8.14e-06	5.14e-06	8.876e-05	5.385e-05	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000284	0.46274	D	0.145905	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.251	0.28381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409287	0.90439	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	10.572318	0.99792	48	0.99600168376138287	0.74160	0.97348	0.74182	D	AEFBI	0.835755	0.75361	D	0.835120064643327	0.88244	9.506539	0.702655911572079	0.82578	7.802413	0.999999767671711	0.74766	0.752111	0.98806	0	0.389834	0.06304	2	0.658983	0.55881	0	0.664235	0.64389	0	.	.	5.0	5.0	0.66209	4.333000	0.59070	7.542000	0.60105	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	15.790	0.78117	161	0.93754	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	967.33	34	chr1	150994697	.	C	T	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.573;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.363;SOR=0.751	GT:AD:DP:GQ:PL	0/1:44,36:80:99:981,0,1253	18	0	1	0
chr1	151369023	151369023	C	T	exonic	SELENBP1	.	nonsynonymous SNV	SELENBP1:NM_001258289:exon4:c.G467A:p.R156Q,SELENBP1:NM_003944:exon4:c.G341A:p.R114Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0384412378673	0.0004	0.000998403	0.0003	0.0008	8.655e-05	0	0.0015	0.0001	0	0.0006	0.0002587	40	154602	rs150747769	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0.0011	8.965e-05	0	0	0.0020	0.0017	8.74e-05	0.0002	0.0005	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0001	0	0	0.0019	0	0.0002	0	0.0004	0.007	0.59928	D	0.017	0.62352	D	0.941	0.52883	P	0.603	0.50895	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.715	0.79425	M	2.56	0.13673	T	-3.14	0.64019	D	0.828	0.82358	-0.9498	0.41006	T	0.073	0.29675	T	10	0.037467897	0.02103	T	0.038441	0.58221	D	0.238	0.54217	.	.	0.554156219314	0.55073	0.5695218969500822	0.56880	0.447474446521	0.44600	0.456014692783	0.32766	T	0.263675	0.63537	T	-0.257937	0.13143	T	-0.199633	0.54681	T	0.0803476327937628	0.10032	T	0.976802	0.92442	D	0.530819	0.68877	0.30855608	0.56873	0.530819	0.68878	0.30855608	0.56872	-9.15	0.68657	D	0.2606993172479604	0.35203	0.115	0.26357	B	.;.;.	.;.;.	4.531131	0.71134	25.6	0.9994273189516597	0.99848	0.96507	0.69485	D	AEFDBI	0.930753	0.91852	D	0.597085901411102	0.72992	5.893874	0.524974175573709	0.69674	5.39439	0.999999995618219	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.95	4.03	0.46115	5.465000	0.66456	5.794000	0.49890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.364000	0.25977	0.0:0.8479:0.1521:0.0	14.076	0.64414	225	0.91282	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1690.33	40	chr1	151369023	.	C	T	1690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.07;SOR=0.636	GT:AD:DP:GQ:PL	0/1:48,64:112:99:1704,0,1150	18	0	1	0
chr1	151534030	151534030	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon15:c.G2798A:p.R933Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0137856972932	7.7e-05	0.000199681	0.0002	0	8.734e-05	0.0015	0	1.564e-05	0	0.0002	0.0001229	19	154602	rs370928424	9.581e-05	9.577e-05	9.124e-05	0.0001	0.0027	8.246e-05	7.786e-05	0.0023	0.0021	5.975e-05	4.474e-05	0	0.0027	0	0	1.439e-05	1.657e-05	0.0002	7.881e-05	7.875e-05	6.426e-05	9.402e-05	0.0010	4.494e-05	3.51e-05	0.0004	0.0002	7.22e-05	0	0	0	0.0010	0	0	2.94e-05	0	0.0004	0.293	0.14843	T	0.426	0.13872	T	.	.	.	.	.	.	0.248770	0.15555	N	0.629398	1	0.08975	N	.	.	.	-1.08	0.77078	T	0.49	0.02993	N	0.13	0.12484	-0.9609	0.39012	T	0.050	0.21261	T	10	0.010905385	0.00241	T	0.013786	0.33457	T	0.100	0.28662	.	.	0.535820281431	0.53231	0.0370523453269771	0.03652	0.169914134058	0.19155	0.256351858377	0.04465	T	.	.	.	-0.504185	0.00542	T	-0.527082	0.19580	T	0.00267476440974893	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01645	B	.	.	0.315454	0.06903	3.442	0.90563400646358139	0.19818	0.03420	0.08548	N	AEFBI	0.091670	0.18565	N	-1.47203192596936	0.02049	0.09008674	-1.4669874346692	0.02620	0.1208093	0.998528455694742	0.37129	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.25	-4.03	0.03752	-0.056000	0.11744	-0.904000	0.06980	-0.119000	0.14319	0.001000	0.13787	0.000000	0.08366	0.262000	0.23568	0.4807:0.0:0.2266:0.2926	5.505	0.16139	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	923.33	34	chr1	151534030	.	G	A	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=698;ExcessHet=0;FS=3.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.758;SOR=0.801	GT:AD:DP:GQ:PL	0/1:37,38:75:99:937,0,945	18	0	1	0
chr1	151535055	151535055	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon16:c.G2918A:p.R973Q	.	.	.	.	.	.	.	.	.	.	.	696093	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.327	.	0.0063	0.00738818	0.0015	0.0180	0.0003	0	0	0	0.0011	6.305e-05	0.0014812	229	154602	rs79234959	0.0006	0.0006	0.0007	0.0004	0.0206	0.0005	0.0005	0.0193	0.0188	0.0206	0.0005	0	2.519e-05	0	0.0002	6.297e-05	0.0009	6.959e-05	0.0057	0.0057	0.0059	0.0055	0.0196	0.0054	0.0053	0.0184	0.0180	0.0196	0	0.0028	0	0	0	0	7.351e-05	0.0028	0	0.434	0.09430	T	0.39	0.15506	T	.	.	.	.	.	.	0.000003	0.62929	D	0.107097	0.984	0.40074	D	.	.	.	-1.07	0.76948	T	-0.15	0.09297	N	0.564	0.58798	-0.6732	0.61683	T	0.239	0.60643	T	10	0.010561675	0.00234	T	.	.	.	0.327	0.64926	.	.	0.627711000292	0.62467	0.05023728456352693	0.04966	0.588653503062	0.54405	0.360849320889	0.19509	T	.	.	.	-0.414658	0.01852	T	-0.352808	0.38884	T	0.0543260286052893	0.06244	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.11941	B	.	.	4.241585	0.64317	24.7	0.99922791452777893	0.98852	0.79368	0.39316	D	AEFDGBHCI	0.589159	0.58615	D	0.239520682646935	0.53122	3.482653	0.340839712645092	0.57958	3.963733	0.99999999999751	0.74766	0.712529	0.81865	0	0.703908	0.78521	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.4	5.4	0.77957	2.058000	0.41001	7.527000	0.59855	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.913	0.88856	450	0.79359	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	521.33	34	chr1	151535055	.	G	A	521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.572;DP=698;ExcessHet=0;FS=0.934;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=-0.599;SOR=0.54	GT:AD:DP:GQ:PL	0/1:48,25:73:99:535,0,1136	18	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1290.07	114	chr1	152214827	.	A	*	1290.07	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.362;DP=5607;ExcessHet=13.8672;FS=40.595;InbreedingCoeff=-0.5202;MLEAC=10;MLEAF=0.263;MQ=28.03;MQRankSum=2.54;QD=0.28;ReadPosRankSum=-5.241;SOR=10.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,70:441:99:0|1:152214821_T_A:1688,0,15294:152214821	9	0	10	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	637.96	114	chr1	152214830	.	C	*	637.96	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0;DP=5543;ExcessHet=11.1788;FS=40.595;InbreedingCoeff=-0.4637;MLEAC=10;MLEAF=0.263;MQ=27.92;MQRankSum=1.43;QD=0.15;ReadPosRankSum=-5.927;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,70:441:99:0|1:152214821_T_A:1688,0,15294:152214821	9	0	10	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	5052.02	615	chr1	152219783	.	T	C	5052.02	.	AC=7;AF=0.194;AN=36;BaseQRankSum=7.93;DP=8689;ExcessHet=2.9153;FS=29.204;InbreedingCoeff=-0.2459;MLEAC=7;MLEAF=0.194;MQ=51.63;MQRankSum=-10.48;QD=1.56;ReadPosRankSum=-7.619;SOR=3.236	GT:AD:DP:GQ:PL	0/1:391,47:438:99:249,0,11583	11	0	7	1
chr1	152351956	152351956	C	T	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.G5830A:p.G1944R	.	424	1096	2	0	0	2	0.000911577	.	.	.	2357930	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00265941374319	0.0002	.	0.0002	0	0	0	0	0.0003	0	0	0.0001811	28	154602	rs200946758	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.987e-05	6.708e-05	0.0001	0	3.744e-05	0.0002	0.0002	0.0002	9.275e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.741e-05	0.0001	0.0001	0.0001	0	6.57e-05	0.0003	0	0	0	0.0002	0	0	0.024	0.47745	D	0.04	0.50809	D	0.999	0.77913	D	0.981	0.75168	D	.	.	.	.	1	0.08975	N	2.21	0.62235	M	2.58	0.13434	T	-2.03	0.46673	N	0.084	0.06059	-1.0616	0.11361	T	0.029	0.12365	T	9	0.12764505	0.24275	T	0.002659	0.05434	T	0.024	0.04979	0.331	0.31681	0.297718772494	0.29385	0.022493717860643355	0.02201	0.182947641025	0.20578	0.240398734808	0.02827	T	0.004178	0.03591	T	-0.554601	0.00274	T	-0.725555	0.04532	T	0.0745290028822227	0.09273	T	0.475652	0.14239	T	0.10440917	0.24682	0.0881897	0.20548	0.10440917	0.24682	0.0881897	0.20548	-7.403	0.56926	T	.	.	0.200	0.42332	B	.	.	1.690682	0.21541	15.24	0.86936826543516255	0.16875	0.10056	0.15666	N	AEFBCI	0.052603	0.09404	N	-0.368301208421924	0.26605	1.453266	-0.637324262667791	0.18537	0.9906936	1.16452378505197E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	-0.247	0.12376	-0.175000	0.09816	.	.	-0.289000	0.06313	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5183:0.1768:0.3049	4.068	0.09349	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4366.33	224	chr1	152351956	.	C	T	4366.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.793;DP=2547;ExcessHet=0;FS=6.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.8;MQRankSum=1.14;QD=14.46;ReadPosRankSum=-0.005;SOR=0.847	GT:AD:DP:GQ:PL	0/1:142,160:302:99:4380,0,3976	18	0	1	0
chr1	152409811	152409811	C	T	exonic	CRNN	.	nonsynonymous SNV	CRNN:NM_016190:exon3:c.G1271A:p.R424H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000747334997899	.	.	4.943e-05	0	0	0.0001	0	1.499e-05	0	0.0002	5.17e-05	8	154602	rs150002541	3.078e-05	3.078e-05	2.042e-05	4.125e-05	0.0003	2.347e-05	2.095e-05	0.0002	0.0002	0	0	0	2.519e-05	0	0	1.709e-05	3.311e-05	0.0003	1.969e-05	1.968e-05	2.57e-05	1.342e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.591	0.05790	T	0.564	0.08991	T	0.0	0.02946	B	0.0	0.01387	B	0.930585	0.07533	N	1.038600	1	0.08975	N	0	0.06538	N	3.64	0.04309	T	0.2	0.04861	N	0.026	0.00527	-0.8990	0.48094	T	0.003	0.00929	T	10	0.058475614	0.06879	T	7.47E-4	0.00529	T	0.010	0.01040	0.285	0.24280	0.0297737177859	0.01360	0.03401236192713288	0.03349	0.0763001356589	0.08565	0.192210108042	0.00266	T	0.001538	0.00977	T	-0.62528	0.00102	T	-0.861648	0.00825	T	0.0108537413179874	0.00155	T	0.435856	0.11948	T	0.022481566	0.00914	0.022030745	0.00237	0.022481566	0.00914	0.022030745	0.00237	-3.984	0.23563	T	.	.	0.069	0.03128	B	.	.	0.002527	0.04298	1.082	0.56989232421642622	0.05671	0.02020	0.06069	N	AEFBI	0.063937	0.12387	N	-1.55898422076667	0.01483	0.06472306	-1.59420409715888	0.01690	0.07678631	5.85274553533552E-4	0.07390	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.21	7.04E-4	0.13366	-1.078000	0.03524	.	.	-0.354000	0.05547	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.5968:0.1715:0.2317	5.282	0.14993	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2159.33	43	chr1	152409811	.	C	T	2159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.55;DP=848;ExcessHet=0;FS=2.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.858;SOR=0.942	GT:AD:DP:GQ:PL	0/1:91,80:171:99:2173,0,2384	18	0	1	0
chr1	155030158	155030158	G	A	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon7:c.C1103T:p.A368V	.	407	1099	16	0	0	16	0.00722674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00647266852047	0.0007	0.00179712	0.0016	0.0003	0.0018	0	0	0.0012	0.0033	0.0053	0.0014424	223	154602	rs138589439	0.0011	0.0011	0.0009	0.0012	0.0061	0.0010	0.0010	0.0048	0.0047	8.961e-05	0.0015	0.0001	2.519e-05	9.36e-05	0.0061	0.0008	0.0014	0.0052	0.0009	0.0009	0.0010	0.0009	0.0060	0.0008	0.0008	0.0043	0.0037	0.0001	0	0.0024	0	0.0002	9.414e-05	0.0068	0.0009	0.0014	0.0060	0.349	0.12345	T	0.42	0.14116	T	0.288	0.32258	B	0.241	0.38645	B	0.445358	0.12575	N	0.732373	1	0.08975	N	2.47	0.71715	M	1.44	0.32722	T	-1.23	0.31170	N	0.585	0.60579	-1.0305	0.20292	T	0.041	0.17488	T	10	0.006998539	0.00159	T	0.006473	0.17043	T	0.033	0.08068	.	.	0.314716216878	0.31082	0.1180707425201318	0.11734	0.0930818480898	0.10513	0.492610812187	0.37801	T	0.038065	0.24707	T	-0.487804	0.00668	T	-0.472245	0.25274	T	0.0204414593917916	0.00744	T	0.640436	0.25296	T	0.05572035	0.10867	0.09836587	0.23449	0.05572035	0.10866	0.09836587	0.23448	-3.62	0.18147	T	.	.	0.127	0.26855	B	.	.	1.979690	0.25148	16.66	0.98493703486738426	0.42132	0.48899	0.28311	N	AEFGBI	0.209923	0.33587	N	-0.249908420801866	0.31107	1.740991	-0.247199317575445	0.29868	1.676911	0.0119462624476166	0.12258	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.83	2.83	0.32150	2.437000	0.44487	2.463000	0.32863	0.676000	0.76740	0.842000	0.30316	0.832000	0.27222	0.399000	0.26759	0.0:0.0:0.6731:0.3269	11.329	0.48702	258	0.89879	Dendritic cell-specific transmembrane protein-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	0.004532	0.005051	0.008152	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1497.33	33	chr1	155030158	.	G	A	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.568;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=-0.038;SOR=0.695	GT:AD:DP:GQ:PL	0/1:38,57:95:99:1511,0,897	18	0	1	0
chr1	155047262	155047262	T	C	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon13:c.T1487C:p.I496T,DCST1:NM_152494:exon14:c.T1562C:p.I521T	.	.	.	.	.	.	.	.	.	.	.	3963751	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0148609064194	0.0002	.	0.0002	0.0003	8.637e-05	0.0001	0	0.0002	0	0.0008	0.000194	30	154602	rs139043706	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	2.236e-05	0	2.519e-05	0	0	0.0002	0.0002	0.0005	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0002	0	6.54e-05	0	0	0	0	0.0002	0	0.0004	0.003	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	0.163604	0.17586	N	0.577931	0.993821	0.42066	D	2.71	0.79292	M	1.48	0.31731	T	-3.43	0.67359	D	0.84	0.84298	-1.0398	0.17374	T	0.110	0.39675	T	10	0.62956953	0.68438	D	0.014861	0.35248	T	0.301	0.62179	.	.	0.421184727016	0.41734	0.5793418839155227	0.57863	0.62569123341	0.56737	0.548558115959	0.45654	T	0.204421	0.56319	T	-0.187483	0.22628	T	-0.157651	0.58563	T	0.267059415578842	0.23621	T	0.862414	0.56597	D	0.69458497	0.77761	0.62313217	0.78039	0.69458497	0.77762	0.62313217	0.78040	-6.783	0.54890	T	.	.	0.177	0.52169	B	.;.;.	.;.;.	4.534323	0.71214	25.6	0.99852506505342253	0.93191	0.96408	0.68991	D	AEFBI	0.725310	0.67434	D	0.631640971760997	0.75186	6.261599	0.601545904432899	0.75052	6.242783	0.999998850457837	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.88	4.88	0.63131	5.199000	0.64988	7.829000	0.70041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.054	0.47127	226	0.91233	Dendritic cell-specific transmembrane protein-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	.	.	.	.	.	.	.	.	0.02632	835.33	45	chr1	155047262	.	T	C	835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=802;ExcessHet=0;FS=1.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.005;SOR=0.957	GT:AD:DP:GQ:PL	0/1:39,35:74:99:849,0,881	18	0	1	0
chr1	156544469	156544469	G	A	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon20:c.C2308T:p.H770Y	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0013	0.00299521	0.0030	0.0003	0.0004	0	0.0132	0.0020	0.0022	0.0081	0.0027425	424	154602	rs1078890	0.0024	0.0024	0.0021	0.0027	0.0085	0.0023	0.0023	0.0080	0.0078	0.0002	0.0008	3.827e-05	2.519e-05	0.0138	0.0033	0.0017	0.0019	0.0085	0.0025	0.0025	0.0019	0.0031	0.0064	0.0023	0.0022	0.0047	0.0041	0.0003	0	0.0010	0	0.0004	0.0147	0	0.0023	0.0009	0.0064	1.0	0.00964	T	1.0	0.01155	T	0.997	0.70673	D	0.992	0.80445	D	0.000021	0.62929	N	0.115150	0.896841	0.27778	N	1.355	0.33814	L	1.82	0.25018	T	-0.02	0.07299	N	0.179	0.19325	-1.0842	0.06553	T	0.037	0.15770	T	10	0.009949565	0.00223	T	.	.	.	0.117	0.32689	.	.	0.445711490874	0.44190	0.48171997080650863	0.48091	0.167720332786	0.18908	0.375248074532	0.21581	T	0.05014	0.28509	T	-0.511767	0.00490	T	-0.502345	0.22105	T	0.0235875512316063	0.01093	T	0.190681	0.02037	T	0.029790608	0.02532	0.04297259	0.05241	0.029790608	0.02532	0.04297259	0.05241	-4.832	0.34962	T	.	.	0.065	0.02038	B	.	.	2.005127	0.25474	16.78	0.91446367136325746	0.20716	0.15213	0.18800	N	AEFBI	0.062974	0.12139	N	-0.18758735773565	0.33651	1.911532	-0.239020038322842	0.30151	1.695219	0.913933773564548	0.26438	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.73	2.87	0.32523	1.423000	0.34445	5.243000	0.48069	-0.113000	0.14837	0.735000	0.28974	1.000000	0.68203	0.922000	0.45779	0.2961:0.0:0.7039:0.0	6.366	0.20660	621	0.65931	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	rs1078890	Uncertain significance	0	0	0	0	0	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	0.006793	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	690.33	36	chr1	156544469	.	G	A	690.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.405;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.563;SOR=0.709	GT:AD:DP:GQ:PL	0/1:50,33:83:99:704,0,1249	18	0	1	0
chr1	158256794	158256794	G	A	exonic	CD1A	.	nonsynonymous SNV	CD1A:NM_001320652:exon4:c.G580A:p.E194K,CD1A:NM_001763:exon4:c.G613A:p.E205K	.	401	1112	9	0	0	9	0.00403045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.00978435	0.0051	9.858e-05	0.0003	0.0003	0	0.0001	0.0078	0.0361	0.0044049	681	154602	rs199513468	0.0023	0.0023	0.0013	0.0032	0.0343	0.0022	0.0022	0.0332	0.0328	0.0001	0.0001	3.827e-05	0.0001	3.744e-05	0.0005	0.0001	0.0033	0.0343	0.0013	0.0013	0.0007	0.0018	0.0377	0.0011	0.0011	0.0332	0.0315	9.625e-05	0	0.0001	0	0	0	0	1.47e-05	0.0014	0.0377	0.101	0.30375	T	0.083	0.41405	T	0.877	0.48223	P	0.079	0.28749	B	0.018890	0.27379	N	0.174172	0.999999	0.08975	N	0.89	0.21648	L	5.13	0.01211	T	-3.21	0.64826	D	0.447	0.48504	-0.8224	0.53784	T	0.001	0.00348	T	10	0.0057022274	0.00127	T	.	.	.	0.044	0.11924	.	.	0.363751660372	0.35992	0.29426011165058985	0.29339	0.0387264758305	0.04117	0.364788651466	0.20080	T	0.385151	0.74661	T	-0.551955	0.00284	T	-0.539162	0.18378	T	0.033923377512013	0.02624	T	0.714629	0.32694	T	0.35737464	0.57636	0.19285639	0.42823	0.35737464	0.57636	0.19285639	0.42822	-6.375	0.49314	T	.	.	0.084	0.09772	B	.	.	1.502258	0.19308	14.20	0.98255626239123128	0.39612	0.02527	0.07035	N	AEFI	0.040701	0.06091	N	-0.532139653445709	0.21048	1.114114	-0.611250435183947	0.19203	1.029307	0.997173872827245	0.35344	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.84	0.556	0.16442	0.094000	0.14946	-0.239000	0.10608	-0.860000	0.02636	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.115:0.3921:0.4929:0.0	5.562	0.16433	878	0.29785	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003188	0.000000	0.000000	0.000000	0.050000	0.000000	0.003086	0.011450	0.02632	2340.33	46	chr1	158256794	.	G	A	2340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=980;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.49;SOR=0.732	GT:AD:DP:GQ:PL	0/1:109,90:199:99:2354,0,2554	18	0	1	0
chr1	159713802	159713802	G	A	exonic	CRP	.	nonsynonymous SNV	CRP:NM_000567:exon2:c.C398T:p.P133L,CRP:NM_001329057:exon2:c.C398T:p.P133L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.0217423197113	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs34200896	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.39	0.15506	T	0.998	0.73220	D	0.935	0.67021	D	0.062072	0.22124	N	0.472698	0.999993	0.08975	N	1.955	0.52871	M	0.61	0.53516	T	-9.42	0.98394	D	0.171	0.18239	-1.0610	0.11508	T	0.075	0.30242	T	10	0.35481068	0.52256	T	0.021742	0.44549	T	0.224	0.52174	0.574	0.69826	0.65220452611	0.64931	0.7589398457253043	0.75841	0.219023132142	0.24445	0.394662499428	0.24325	T	0.241935	0.61057	T	-0.203516	0.20299	T	-0.530113	0.19275	T	0.998506724834442	0.94337	D	0.819018	0.47665	T	0.46394026	0.64916	0.33837274	0.59616	0.46394026	0.64917	0.33837274	0.59615	-6.317	0.48856	T	.	.	0.303	0.53222	B	.	.	3.707142	0.52905	23.3	0.9867211487581109	0.44484	0.80560	0.40165	D	AEFDI	0.398553	0.47419	N	0.0403723573146546	0.43701	2.657903	-0.0445384242036294	0.37727	2.212929	6.35532909093921E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.73	3.78	0.42629	3.645000	0.54129	4.496000	0.43591	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.734000	0.35233	0.0975:0.1807:0.7217:0.0	6.733	0.22579	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2127.33	40	chr1	159713802	.	G	A	2127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.021;DP=810;ExcessHet=0;FS=1.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.905;SOR=0.853	GT:AD:DP:GQ:PL	0/1:85,76:161:99:2141,0,2345	18	0	1	0
chr1	161525485	161525485	T	C	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.T827C:p.L276P	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.00588033807086	.	.	0.0008	0.0003	0.0014	0.0059	0	0.0001	0.0012	0.0013	0.0003842	10	26028	rs200790521	0.0002	0.0040	0.0002	0.0002	0.0061	0.0002	0.0002	0.0054	0.0051	0.0002	0.0005	7.681e-05	0.0061	0	0.0002	7.019e-05	0.0002	0.0003	0.0021	0.0088	0.0018	0.0024	0.0339	0.0019	0.0018	0.0291	0.0273	0.0021	0	0.0026	0.0006	0.0339	0.0006	0	0.0003	0.0010	0.0068	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.008619	0.30756	U	0.000000	1	0.81001	D	5.29	0.99973	H	4.41	0.02196	T	-5.97	0.89272	D	0.936	0.94196	-0.9143	0.46311	T	0.051	0.21650	T	10	0.2015154	0.36238	T	0.00588	0.15310	T	0.326	0.64826	.	.	0.582989276457	0.57971	0.7350060494777294	0.73445	.	.	0.758608818054	0.75722	T	0.252282	0.62264	T	0.162173	0.70403	D	-0.00482638	0.70022	D	0.910666465759277	0.56597	D	0.60024	0.22396	T	0.96664566	0.97941	0.95434904	0.98656	0.96664566	0.97941	0.95434904	0.98657	-18.233	0.99613	D	.	.	0.996	0.96165	P	.	.	3.710376	0.52968	23.3	0.99857324271766146	0.93639	0.94452	0.61211	D	AEFDGBI	0.825201	0.74494	D	0.811074925446151	0.86794	9.001175	0.572615151786371	0.72983	5.896734	0.999999996164582	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.61531	0.40942	0	0.651492	0.60203	0	.	.	3.12	3.12	0.34986	5.249000	0.65246	3.133000	0.36449	0.585000	0.30472	1.000000	0.71638	0.993000	0.31925	0.817000	0.38496	0.0:0.0:0.0:1.0	9.309	0.37057	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	72.33	34	chr1	161525485	.	T	C	72.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.004;DP=1031;ExcessHet=0;FS=32.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.04;MQRankSum=-5.687;QD=0.54;ReadPosRankSum=-0.149;SOR=5.219	GT:AD:DP:GQ:PL	0/1:122,13:135:86:86,0,3767	18	0	1	0
chr1	163339479	163339479	T	G	splicing	NUF2	NM_145697:exon8:c.606+2T>G;NM_031423:exon8:c.606+2T>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.304e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs755028713	6.837e-05	0.0014	6.814e-05	6.86e-05	7.631e-05	5.74e-05	5.274e-05	6.284e-05	5.779e-05	6.076e-05	2.249e-05	0	0	9.443e-05	0	7.631e-05	8.438e-05	2.341e-05	5.919e-05	0.0004	7.721e-05	4.035e-05	0.0006	3.08e-05	2.212e-05	0.0002	8.429e-05	4.818e-05	0	0.0001	0	0.0006	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277071	0.81064	D	0.160217	0.80821	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.804705	0.78109	26.8	0.98038777028674218	0.37774	0.96435	0.69125	D	AEFBI	.	.	.	0.918641877821744	0.92642	11.54256	0.727675605759747	0.84478	8.303652	0.306131535664577	0.19239	0.099367	0.02607	0	0.104858	0.03167	0	0.128073	0.03558	0	0.117559	0.03655	0	0.900427	0.56741	4.38	4.38	0.52019	4.578000	0.60640	7.262000	0.57963	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.0:0.0:1.0	10.177	0.42122	909	0.22467	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	37.33	82	chr1	163339479	.	T	G	37.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.282;DP=1200;ExcessHet=0;FS=11.047;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.733;SOR=3.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,6:73:51:0|1:163339479_T_G:51,0,2742:163339479	18	0	1	0
chr1	168729065	168729065	C	A	exonic	DPT	.	nonsynonymous SNV	DPT:NM_001937:exon1:c.G110T:p.G37V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0130591021345	.	0.00139776	0.0012	0	0	0	0	0	0.0022	0.0088	0.0010155	157	154602	rs565275697	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0005	0.0090	0.0088	2.987e-05	0	0	0	0	0.0002	7.194e-06	0.0006	0.0095	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	0	0	0.0091	0.035	0.43708	D	0.032	0.53426	D	0.899	0.49514	P	0.49	0.47330	P	0.000756	0.42006	D	0.267246	0.999999	0.58761	D	0.695	0.17993	N	0.87	0.46412	T	-1.22	0.30964	N	0.495	0.52829	-1.0589	0.12032	T	0.061	0.25528	T	9	0.015725493	0.00330	T	0.013059	0.32163	T	0.106	0.30130	0.406	0.43902	0.785964137318	0.78398	0.6515936956534731	0.65095	0.563308935047	0.52772	0.456820905209	0.32875	T	0.166978	0.51343	T	-0.430698	0.01468	T	-0.385047	0.35131	T	0.111157728459889	0.13543	T	0.749125	0.37025	T	0.12774277	0.29885	0.15100794	0.35589	0.15706508	0.35410	0.11832688	0.28562	-3.913	0.22497	T	.	.	0.176	0.38480	B	.	.	2.421762	0.31145	18.65	0.99608830904154133	0.74694	0.51349	0.28875	D	AEFBCIJ	0.495916	0.53108	N	0.0832051882814886	0.45680	2.820512	0.0715507140757433	0.43125	2.620812	0.999997042689818	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	0.777000	0.26379	0.831000	0.21948	0.599000	0.40250	0.133000	0.23395	0.244000	0.23872	0.998000	0.85391	0.0:0.87:0.0:0.13	10.167	0.42064	928	0.17405	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2651.33	41	chr1	168729065	.	C	A	2651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.154;DP=878;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.627;SOR=0.657	GT:AD:DP:GQ:PL	0/1:110,103:213:99:2665,0,2855	18	0	1	0
chr1	169169535	169169535	C	T	exonic	NME7	.	nonsynonymous SNV	NME7:NM_013330:exon11:c.G1010A:p.R337H,NME7:NM_197972:exon11:c.G902A:p.R301H	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0410636196253	.	0.00159744	0.0011	9.628e-05	0	0	0	0	0	0.0078	0.0008926	138	154602	rs550467565	0.0005	0.0005	0.0003	0.0007	0.0072	0.0004	0.0004	0.0067	0.0065	2.988e-05	0	0	2.52e-05	0	0.0003	2.069e-05	0.0005	0.0072	0.0003	0.0003	7.71e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	2.408e-05	0	0	0	0	0	0	2.941e-05	0	0.0089	0.002	0.72154	D	0.07	0.43913	T	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	2.35	0.67516	M	0.51	0.55439	T	-4.04	0.74427	D	0.91	0.91162	-0.4866	0.69129	T	0.255	0.62575	T	9	0.0136627555	0.00289	T	0.041064	0.59724	D	0.290	0.60924	0.47	0.54376	0.796077393333	0.79417	0.6752220365856174	0.67460	0.373081078296	0.38782	0.717466711998	0.69677	T	0.270586	0.64286	T	-0.318384	0.07031	T	-0.225267	0.52228	T	0.128982964644575	0.15287	T	0.986601	0.95955	D	0.38122073	0.59405	0.2372449	0.49017	0.38122073	0.59405	0.2372449	0.49016	-6.122	0.51214	T	.	.	0.238	0.48061	B	.;.	.;.	5.434025	0.90852	32	0.99920078274738433	0.98721	0.90067	0.50958	D	AEFI	0.652876	0.62612	D	0.677189744601149	0.78139	6.811	0.628981208281043	0.77053	6.606074	0.973418426961393	0.29454	0.706298	0.61202	0	0.670034	0.63936	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.48	4.57	0.55860	5.958000	0.70050	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.923:0.0:0.0769	13.402	0.60336	624	0.65661	Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain|NDPK7, second NDPk domain;Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain|NDPK7, second NDPk domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	986.33	33	chr1	169169535	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=679;ExcessHet=0;FS=3.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-2.014;SOR=1.321	GT:AD:DP:GQ:PL	0/1:31,37:68:99:1000,0,698	18	0	1	0
chr1	169541138	169541138	G	T	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon13:c.C3952A:p.Q1318K	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	862735	Factor_V_deficiency|Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|Budd-Chiari_syndrome|Ischemic_stroke|Pregnancy_loss,_recurrent,_susceptibility_to,_1|Thrombophilia_due_to_thrombin_defect	Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131|Human_Phenotype_Ontology:HP:0002140,MedGen:C0948008,OMIM:601367|MONDO:MONDO:0013727,MeSH:D000026,MedGen:C3280670,OMIM:614389|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	.	.	0.00319489	0.0017	0	0	0.0001	0	0	0	0.0128	0.0015006	232	154602	rs538359973	0.0003	0.0003	0.0001	0.0005	0.0053	0.0003	0.0003	0.0048	0.0047	0	0	0	0	0	0.0002	9.173e-07	0.0002	0.0053	0.0003	0.0003	0.0001	0.0004	0.0086	0.0002	0.0002	0.0065	0.0058	4.847e-05	0	0	0	0	0	0	0	0	0.0086	0.028	0.48186	D	0.548	0.09489	T	0.799	0.44910	P	0.112	0.31615	B	0.984105	0.08074	N	0.992567	1	0.08975	N	2.325	0.66631	M	1.39	0.33842	T	-1.3	0.32590	N	0.233	0.26233	-1.0351	0.18825	T	0.040	0.17149	T	9	0.004408002	0.00090	T	.	.	.	0.068	0.19811	0.207	0.12356	0.379193981924	0.37526	0.5156648822068403	0.51489	0.11607837955	0.13092	0.196179002523	0.00354	T	0.036265	0.24038	T	-0.562324	0.00246	T	-0.581036	0.14453	T	0.0458388258513645	0.04755	T	0.572443	0.20452	T	0.042975	0.06616	0.05312397	0.08886	0.033009578	0.03435	0.043180063	0.05314	-9.453	0.70566	D	0.5072039466640682	0.58147	0.128	0.27192	B	.;.	.;.	0.902549	0.12763	9.283	0.85550484342504696	0.15963	0.12129	0.17077	N	AEFGBI	0.174937	0.30209	N	-0.557287898212923	0.20255	1.066479	-0.708969733160126	0.16737	0.8868281	0.0111148131088354	0.12133	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.33	2.29	0.27658	0.323000	0.19340	0.117000	0.14863	-0.893000	0.02373	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.3359:0.6641:0.0	12.004	0.52538	773	0.48803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002114	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	4773.33	383	chr1	169541138	.	G	T	4773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.317;DP=3400;ExcessHet=0;FS=0.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.67;MQRankSum=0.517;QD=18.87;ReadPosRankSum=-0.921;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,130:253:99:0|1:169541138_G_T:4787,0,4619:169541138	18	0	1	0
chr1	172589659	172589659	T	C	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282751:exon16:c.T869C:p.L290S,SUCO:NM_016227:exon17:c.T3011C:p.L1004S,SUCO:NM_014283:exon18:c.T2558C:p.L853S	.	.	.	.	.	.	.	.	.	.	.	2879028	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00205147240893	.	.	4.146e-05	0	0	0	0	4.508e-05	0	0.0001	3.23e-05	5	154602	rs771443282	1.779e-05	1.779e-05	1.225e-05	2.338e-05	0.0005	1.238e-05	1.052e-05	0.0001	7.541e-05	0	2.239e-05	0	0	0	0.0005	6.296e-06	4.968e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.931	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.257578	0.15381	N	0.625324	1	0.08975	N	1.245	0.31408	L	.	.	.	-0.24	0.10833	N	0.285	0.33030	-0.9678	0.37652	T	0.019	0.07939	T	9	0.05289665	0.05396	T	0.002051	0.03748	T	0.087	0.25287	.	.	0.226586394389	0.22295	0.19967654318831893	0.19884	0.20325364087	0.22742	0.312353134155	0.12262	T	0.100007	0.40539	T	-0.41227	0.01920	T	-0.593305	0.13382	T	0.0129610681906343	0.00224	T	0.573543	0.20534	T	0.056752305	0.11207	0.062234342	0.12145	0.056752305	0.11207	0.062234342	0.12145	-2.511	0.07269	T	.	.	0.070	0.03443	B	.;.;.;.	.;.;.;.	1.728832	0.22006	15.44	0.95379883548325262	0.26802	0.21500	0.21423	N	AEFGBHCI	0.039199	0.05659	N	-0.723827778685287	0.15354	0.7730089	-0.597989644290286	0.19545	1.049136	0.999966637075303	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.608884	0.39905	0	0.638787	0.57140	0	.	.	5.29	2.94	0.33188	0.769000	0.26267	0.002000	0.13306	0.665000	0.62972	0.455000	0.26605	0.000000	0.08366	0.993000	0.69303	0.0:0.2281:0.0:0.7719	7.946	0.29150	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	.	.	.	.	.	.	.	.	0.02632	1234.33	40	chr1	172589659	.	T	C	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=758;ExcessHet=0;FS=6.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.36;SOR=1.278	GT:AD:DP:GQ:PL	0/1:62,46:108:99:1248,0,1693	18	0	1	0
chr1	182900066	182900066	C	T	exonic	SHCBP1L	.	nonsynonymous SNV	SHCBP1L:NM_030933:exon10:c.G1879A:p.V627I,SHCBP1L:NM_001345928:exon11:c.G1522A:p.V508I	.	495	1026	1	0	0	1	0.000487092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00374286982206	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1478384500	6.845e-06	6.84e-06	5.449e-06	8.256e-06	2.988e-05	3.46e-06	2.52e-06	3.85e-06	1.44e-06	2.988e-05	2.24e-05	0	0	0	0	4.498e-06	1.657e-05	2.322e-05	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	0.367	0.11659	T	0.236	0.24694	T	.	.	.	.	.	.	0.013232	0.28908	N	0.243688	0.934616	0.26965	N	.	.	.	0.98	0.42122	T	-0.26	0.11185	N	0.077	0.05162	-1.0738	0.08598	T	0.038	0.16376	T	10	0.051856756	0.05131	T	0.003743	0.08682	T	0.025	0.05312	.	.	0.0611884634855	0.05136	0.224163108759251	0.22331	0.137318649521	0.15482	0.421790122986	0.28083	T	.	.	.	-0.302701	0.08406	T	-0.672586	0.07443	T	0.224868547035791	0.21704	T	0.652935	0.26315	T	0.034833066	0.03986	0.03277407	0.02066	0.034833066	0.03985	0.03277407	0.02066	-3.523	0.16755	T	.	.	0.083	0.09239	B	.	.	2.313663	0.29619	18.18	0.94894292018025017	0.25739	0.52646	0.29181	D	AEFI	0.084417	0.17108	N	-0.447983520794218	0.23808	1.281187	-0.220623917477258	0.30796	1.737183	4.99530584079893E-4	0.07150	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.39	3.52	0.39415	1.037000	0.29850	3.988000	0.40963	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.6416:0.1749:0.1835	5.001	0.13610	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	519.33	35	chr1	182900066	.	C	T	519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.195;DP=673;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.679;SOR=0.973	GT:AD:DP:GQ:PL	0/1:31,24:55:99:533,0,815	18	0	1	0
chr1	196334041	196334041	C	A	exonic	KCNT2	.	nonsynonymous SNV	KCNT2:NM_001287820:exon16:c.G1653T:p.L551F,KCNT2:NM_001287819:exon17:c.G1803T:p.L601F,KCNT2:NM_198503:exon17:c.G1803T:p.L601F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.012105287825	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201543486	6.846e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.41096	T	0.036	0.53072	D	0.001	0.20732	B	0.012	0.24256	B	0.000361	0.45440	D	0.000000	0.996586	0.44459	D	2.025	0.55430	M	1.98	0.36512	T	-1.89	0.46503	N	0.336	0.46555	-1.0652	0.10502	T	0.083	0.32527	T	10	0.14280558	0.27120	T	0.012105	0.30367	T	0.053	0.14996	0.317	0.29419	0.0675242888579	0.06100	0.43125153942951505	0.43042	0.616326265864	0.56095	0.763530135155	0.76456	T	0.08949	0.38383	T	-0.222763	0.17618	T	-0.55776	0.16587	T	0.481928139925003	0.31968	T	0.958004	0.84234	D	0.11447911	0.27025	0.12778498	0.30755	0.11447911	0.27025	0.12778498	0.30754	-12.046	0.85074	D	.	.	0.463	0.65616	A	.;.;.;.	.;.;.;.	2.382206	0.30579	18.48	0.99583402547239686	0.73159	0.28146	0.23473	N	AEFI	0.330168	0.43029	N	-0.469291829117066	0.23091	1.237592	-0.423259572657237	0.24317	1.330898	1.76826620748042E-4	0.05786	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.5	2.41	0.28644	-1.740000	0.01938	0.818000	0.21820	0.517000	0.23534	0.001000	0.13787	0.999000	0.35428	0.998000	0.85391	0.0:0.6389:0.0:0.3611	6.76	0.22723	534	0.73357	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	640.33	33	chr1	196334041	.	C	A	640.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.625;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=1.19;SOR=0.755	GT:AD:DP:GQ:PL	0/1:30,24:54:99:654,0,818	18	0	1	0
chr1	201066300	201066300	C	T	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon21:c.G2674A:p.V892M	Hypokalemic periodic paralysis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	930228	Inborn_genetic_diseases|Hypokalemic_periodic_paralysis,_type_1|Malignant_hyperthermia,_susceptibility_to,_5	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.919	0.149602679448	7.7e-05	.	1.652e-05	0	0	0	0	3.004e-05	0	0	1.29e-05	2	154602	rs146823170	4.11e-06	4.104e-06	5.453e-06	2.753e-06	2.519e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	2.519e-05	0	0	4.497e-06	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.003	0.79402	D	0.999	0.77913	D	0.971	0.72444	D	0.000008	0.62929	D	0.063680	0.999992	0.58761	D	2.675	0.78361	M	-4.96	0.98448	D	-2.74	0.58248	D	0.668	0.67650	1.098	0.99594	D	0.965	0.98890	D	10	0.8296261	0.82129	D	0.149603	0.83139	D	0.919	0.97928	.	.	0.943833370957	0.94324	0.7865709030766226	0.78609	0.505372073468	0.48780	0.828764021397	0.86373	D	0.680392	0.93116	D	0.339454	0.85799	D	0.265312	0.86342	D	0.966197848320007	0.67506	D	0.984901	0.94937	D	0.83699596	0.86394	0.81267464	0.89070	0.83699596	0.86395	0.81267464	0.89071	-11.963	0.84671	D	0.4489849538429753	0.53314	0.323	0.54703	B	.;.	.;.	5.121147	0.85661	28.7	0.9987845210205788	0.95491	0.98216	0.80621	D	AEFDBI	0.922228	0.89690	D	0.722262126209959	0.81093	7.441885	0.610212039832014	0.75680	6.35366	0.999996694037129	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.92	3.92	0.44525	7.827000	0.84873	7.567000	0.60617	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	16.269	0.82430	917	0.20147	Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	822.33	36	chr1	201066300	.	C	T	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.586;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.86;SOR=0.749	GT:AD:DP:GQ:PL	0/1:44,38:82:99:836,0,1074	18	0	1	0
chr1	201208018	201208018	G	T	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G3125T:p.G1042V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0988081760911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.889e-06	2.736e-06	4.277e-06	1.463e-06	3.708e-06	6.8e-07	4.6e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.708e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.997635	0.81001	D	.	.	.	-0.54	0.70950	T	-3.8	0.71762	D	0.134	0.13055	-0.9962	0.30974	T	0.157	0.48858	T	6	0.1386368	0.26364	T	0.098808	0.77003	D	0.148	0.39182	0.483	0.56462	0.321393169273	0.31749	0.6262559975265019	0.62558	.	.	0.313875854015	0.12493	T	.	.	.	-0.123854	0.32496	T	-0.415684	0.31571	T	0.904001116752625	0.55735	D	0.460054	0.13307	T	.	.	.	.	.	.	.	.	-6.248	0.48309	T	.	.	0.211	0.43842	B	.	.	1.950707	0.24774	16.52	0.98197573127921622	0.39088	0.18292	0.20200	N	AEFBI	0.125765	0.24241	N	-0.792898526055585	0.13493	0.6651674	-0.875887901081291	0.12667	0.6528983	2.10869177097071E-4	0.05948	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.23	2.31	0.27816	-0.205000	0.09413	0.707000	0.20898	-0.106000	0.15538	0.000000	0.06391	0.238000	0.23831	0.010000	0.09038	0.1192:0.0:0.8808:0.0	8.632	0.33085	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	.	.	.	.	.	.	.	.	0.02632	936.33	81	chr1	201208018	.	G	T	936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.447;DP=1712;ExcessHet=0;FS=2.633;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-0.506;SOR=0.687	GT:AD:DP:GQ:PL	0/1:69,36:105:99:950,0,1938	18	0	1	0
chr1	204468985	204468985	G	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon2:c.C818A:p.P273H,PIK3C2B:NM_001377335:exon4:c.C818A:p.P273H,PIK3C2B:NM_002646:exon4:c.C818A:p.P273H	.	422	1076	24	0	0	24	0.0110294	.	.	.	707014	not_provided|PIK3C2B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.323	.	0.0061	0.00339457	0.0060	0.0012	0.0022	0.0002	0.0101	0.0076	0.0099	0.0062	0.0059508	920	154602	rs61740701	0.0073	0.0073	0.0071	0.0075	0.0079	0.0072	0.0072	0.0077	0.0077	0.0012	0.0029	0.0086	5.038e-05	0.0095	0.0061	0.0079	0.0067	0.0069	0.0057	0.0057	0.0058	0.0056	0.0080	0.0054	0.0053	0.0075	0.0072	0.0016	0.0022	0.0065	0.0081	0.0012	0.0078	0.0068	0.0080	0.0043	0.0056	0.001	0.78490	D	0.016	0.67890	D	1.0	0.90584	D	0.997	0.86255	D	0.000038	0.55875	D	0.000000	0.99684	0.43455	D	1.955	0.52871	M	-0.03	0.63077	T	-2.39	0.52612	N	0.778	0.77507	-0.4104	0.71698	T	0.286	0.65753	T	10	0.009295911	0.00210	T	.	.	.	0.323	0.64522	.	.	0.519059196697	0.51549	0.4877293472835381	0.48692	1.08075512065	0.77127	0.644070386887	0.59142	T	0.171018	0.51898	T	-0.166881	0.25707	T	-0.00524001	0.69996	D	0.0170075414915406	0.00449	T	0.854615	0.55989	D	0.22388941	0.45019	0.35641825	0.61153	0.22388941	0.45019	0.35641825	0.61152	-5.516	0.42017	T	.	.	0.642	0.70584	P	.;.	.;.	4.729751	0.76160	26.5	0.99607224880428702	0.74575	0.96302	0.68477	D	AEFDGBHCI	0.809462	0.73297	D	0.663345084485605	0.77235	6.635858	0.655544852013524	0.79022	6.99584	0.999999999987651	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	8.900000	0.92179	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	0.0:0.0:1.0:0.0	16.830	0.85807	609	0.67094	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.010101	0.002717	0.002924	0.000000	0.000000	0.012195	0.018939	0.02632	1818.33	37	chr1	204468985	.	G	T	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.114;DP=745;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-1.228;SOR=0.604	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1832,0,1526	18	0	1	0
chr1	205992641	205992641	T	G	exonic	RAB7B	.	nonsynonymous SNV	RAB7B:NM_177403:exon3:c.A235C:p.K79Q,RAB7B:NM_001164522:exon4:c.A235C:p.K79Q,RAB7B:NM_001304839:exon4:c.A235C:p.K79Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970857512	1.217e-05	7.952e-06	1.645e-05	8.01e-06	0.0003	3.24e-06	9e-07	4.724e-05	1.95e-05	0	0.0003	0	0	0	0	0	6.108e-05	0	1.969e-05	1.968e-05	1.285e-05	2.684e-05	0.0002	5.24e-06	2.45e-06	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.52386	.	.	.	.	.	.	.	0.2653666	0.44032	T	.	.	.	.	.	.	.	.	.	0.378611897903864	0.37776	.	.	.	.	.	0.27339	0.64583	T	.	.	.	.	.	.	.	.	.	0.866813	0.61581	D	.	.	.	.	.	.	.	.	-7.472	0.57413	T	.	.	0.490	0.64104	A	.;.;.	.;.;.	4.641073	0.73888	26.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.763000	0.61953	7.846000	0.70742	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	.	.	.	.	.	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1799.33	43	chr1	205992641	.	T	G	1799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.097;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.494;SOR=0.728	GT:AD:DP:GQ:PL	0/1:68,72:140:99:1813,0,1672	18	0	1	0
chr1	213241202	213241202	G	A	exonic	RPS6KC1	.	nonsynonymous SNV	RPS6KC1:NM_001349663:exon6:c.G331A:p.D111N,RPS6KC1:NM_001349665:exon7:c.G331A:p.D111N,RPS6KC1:NM_001349667:exon8:c.G331A:p.D111N,RPS6KC1:NM_001349670:exon8:c.G331A:p.D111N,RPS6KC1:NM_001349672:exon8:c.G331A:p.D111N,RPS6KC1:NM_001287220:exon9:c.G331A:p.D111N,RPS6KC1:NM_001349657:exon9:c.G835A:p.D279N,RPS6KC1:NM_001349664:exon9:c.G331A:p.D111N,RPS6KC1:NM_001349671:exon9:c.G331A:p.D111N,RPS6KC1:NM_001136138:exon10:c.G1690A:p.D564N,RPS6KC1:NM_001287221:exon10:c.G1183A:p.D395N,RPS6KC1:NM_001349646:exon10:c.G1633A:p.D545N,RPS6KC1:NM_001349647:exon10:c.G1363A:p.D455N,RPS6KC1:NM_001349666:exon10:c.G331A:p.D111N,RPS6KC1:NM_001349668:exon10:c.G331A:p.D111N,RPS6KC1:NM_001287218:exon11:c.G1090A:p.D364N,RPS6KC1:NM_001287219:exon11:c.G1090A:p.D364N,RPS6KC1:NM_001349658:exon11:c.G835A:p.D279N,RPS6KC1:NM_001349661:exon11:c.G670A:p.D224N,RPS6KC1:NM_001349669:exon11:c.G331A:p.D111N,RPS6KC1:NM_012424:exon11:c.G1726A:p.D576N,RPS6KC1:NM_001349648:exon12:c.G1183A:p.D395N,RPS6KC1:NM_001349649:exon12:c.G1183A:p.D395N,RPS6KC1:NM_001349653:exon12:c.G1183A:p.D395N,RPS6KC1:NM_001349654:exon12:c.G1090A:p.D364N,RPS6KC1:NM_001349662:exon12:c.G670A:p.D224N,RPS6KC1:NM_001349650:exon13:c.G1183A:p.D395N,RPS6KC1:NM_001349652:exon13:c.G1183A:p.D395N,RPS6KC1:NM_001349659:exon13:c.G670A:p.D224N,RPS6KC1:NM_001349651:exon14:c.G1183A:p.D395N,RPS6KC1:NM_001349660:exon14:c.G670A:p.D224N	.	.	.	.	.	.	.	.	.	.	.	2271959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0023215072552	.	.	8.294e-06	0	8.761e-05	0	0	0	0	0	6.5e-06	1	154602	rs533269129	5.474e-06	5.472e-06	5.446e-06	5.502e-06	2.988e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	2.988e-05	2.239e-05	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29823	T	0.195	0.32675	T	0.097	0.25541	B	0.018	0.18489	B	0.084852	0.20674	N	0.493876	0.916961	0.28232	N	1.525	0.38595	L	1.38	0.34050	T	-1.41	0.34795	N	0.161	0.19861	-0.9717	0.36841	T	0.110	0.39723	T	10	0.11521724	0.21700	T	0.002322	0.04479	T	0.055	0.15663	0.126	0.03173	0.356072328145	0.35220	0.1518321273441709	0.15105	0.0720696283556	0.08078	0.358369171619	0.19148	T	0.013743	0.11830	T	-0.410752	0.01965	T	-0.646266	0.09218	T	0.133827939629555	0.15731	T	0.922308	0.71764	D	0.07585937	0.17118	0.084567845	0.19463	0.07585937	0.17118	0.084567845	0.19463	-3.906	0.22393	T	.	.	0.084	0.10883	B	.;.;.;.;.;.	.;.;.;.;.;.	2.893075	0.38319	20.7	0.98541403895807	0.42719	0.95925	0.66748	D	AEFBI	0.437828	0.49747	N	-0.249074038493051	0.31140	1.743182	-0.187700419177678	0.31988	1.815494	0.0218196262778002	0.13380	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	4.11	0.47350	3.273000	0.51326	3.877000	0.40219	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.795000	0.37519	0.0753:0.0:0.9247:0.0	13.595	0.61453	521	0.74284	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1094.33	33	chr1	213241202	.	G	A	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=705;ExcessHet=0;FS=1.897;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.624;SOR=0.93	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1108,0,942	18	0	1	0
chr1	225859264	225859264	T	C	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon15:c.A1309G:p.T437A	.	428	1082	12	0	0	12	0.00551471	.	.	.	1709657	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.364	0.0165538578836	0.0004	0.000399361	0.0008	0	0.0002	0	0.0015	0.0008	0	0.0016	0.0006662	103	154602	rs149848059	0.0007	0.0007	0.0006	0.0007	0.0033	0.0006	0.0006	0.0022	0.0018	8.961e-05	0.0002	0.0040	0	0.0017	0.0033	0.0005	0.0009	0.0016	0.0006	0.0006	0.0005	0.0007	0.0015	0.0005	0.0004	0.0007	0.0005	2.411e-05	0	0.0003	0.0043	0	0.0010	0	0.0006	0.0019	0.0015	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.91	0.84121	M	1.57	0.29342	T	-4.88	0.81350	D	0.741	0.74098	-0.6026	0.64710	T	0.236	0.60355	T	10	0.04238665	0.02983	T	0.016554	0.37860	T	0.364	0.68407	.	.	0.397838977388	0.39401	0.8697822686528869	0.86943	0.745040649288	0.63462	0.623672246933	0.56247	T	0.094788	0.39487	T	-0.200704	0.20704	T	-0.0743041	0.65318	T	0.0936489957348904	0.11644	T	0.999883	0.99972	D	0.80730873	0.84377	0.68790513	0.81642	0.80730873	0.84378	0.68790513	0.81643	-11.597	0.82832	D	0.5821562219136742	0.64898	0.691	0.72585	P	.	.	4.614181	0.73203	26.0	0.99811349838816488	0.89531	0.97909	0.78046	D	AEFBI	0.691830	0.65170	D	0.739429626177363	0.82215	7.707942	0.68285554828568	0.81080	7.443284	0.999174914721863	0.38651	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	5.883000	0.69466	7.645000	0.63394	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.121	0.72119	749	0.51929	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.05263	5557.83	39	chr1	225859264	.	T	C	5557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.69;DP=1197;ExcessHet=0.119;FS=1.107;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.488;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,99:208:99:.:.:2520,0,2826:.	17	0	2	0
chr1	228282095	228282095	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon31:c.G8360A:p.R2787H,OBSCN:NM_052843:exon31:c.G8360A:p.R2787H,OBSCN:NM_001271223:exon36:c.G9647A:p.R3216H	.	.	.	.	.	.	.	.	.	.	.	3577287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.100	0.0916624922792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	0	5.502e-06	4.639e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.639e-05	6.568e-06	6.566e-06	0	1.344e-05	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.557	0.06441	T	0.096	0.49942	T	0.058	0.30546	B	0.012	0.25828	B	0.444358	0.12587	N	0.723524	0.999996	0.28133	N	1.24	0.30952	L	-0.26	0.67187	T	-1.48	0.36189	N	0.255	0.35727	-0.8157	0.54202	T	0.209	0.56839	T	10	0.14782989	0.28004	T	0.091662	0.75747	D	0.100	0.28662	0.442	0.49811	0.690045052197	0.68738	0.19185448544488415	0.19103	0.539597992946	0.51187	0.273836553097	0.06647	T	0.032902	0.22686	T	-0.102795	0.35962	T	-0.385434	0.35085	T	0.300997278384915	0.25045	T	0.90141	0.77964	D	0.0656184	0.14042	0.043885704	0.05561	0.0656184	0.14041	0.043885704	0.05560	-3.663	0.18773	T	.	.	0.087	0.11317	B	.;.;.;.;.;.	.;.;.;.;.;.	2.771525	0.36384	20.2	0.96583607860884524	0.30344	0.64049	0.32282	D	AEFBI	0.135714	0.25614	N	-0.38761070762208	0.25910	1.41005	-0.368063261833648	0.25955	1.430612	0.936509298387484	0.27257	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.45	3.53	0.39533	3.171000	0.50524	5.727000	0.49501	0.672000	0.70159	0.911000	0.31706	1.000000	0.68203	0.011000	0.09372	0.3585:0.0:0.6414:0.0	5.897	0.18188	430	0.80826	.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|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	.	.	.	.	.	.	.	.	0.02632	1511.33	35	chr1	228282095	.	G	A	1511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.101;DP=806;ExcessHet=0;FS=0.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.032;SOR=0.62	GT:AD:DP:GQ:PL	0/1:87,63:150:99:1525,0,2295	18	0	1	0
chr2	45953	45953	T	C	exonic	FAM110C	.	nonsynonymous SNV	FAM110C:NM_001077710:exon1:c.A433G:p.K145E	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00884437064015	0.0017	0.000798722	0.0040	0.0019	0.0004	0	0.0044	0.0057	0.0060	0.0009	0.0012225	189	154602	rs201895172	0.0025	0.0023	0.0025	0.0024	0.0029	0.0024	0.0024	0.0028	0.0028	0.0003	0.0003	0.0010	0	0.0020	0.0002	0.0029	0.0021	0.0002	0.0014	0.0014	0.0015	0.0013	0.0022	0.0012	0.0012	0.0019	0.0018	0.0005	0	0.0003	0.0012	0.0002	0.0025	0	0.0022	0.0009	0.0004	0.172	0.22660	T	0.38	0.15988	T	0.005	0.12996	B	0.002	0.06944	B	0.001331	0.00770	U	19.859000	1	0.08975	N	1.1	0.28011	L	1.57	0.29342	T	-1.21	0.30762	N	0.131	0.12627	-1.0574	0.12414	T	0.036	0.15683	T	10	0.0052008033	0.00113	T	0.008844	0.23318	T	0.006	0.00375	.	.	0.134241683229	0.13084	0.07682671463907509	0.07618	0.954038324041	0.72747	0.587029635906	0.51076	T	0.010839	0.09742	T	-0.685227	0.00045	T	-0.759479	0.03132	T	0.00377817800165676	0.00040	T	0.307969	0.05936	T	0.06273188	0.13134	0.07462964	0.16346	0.06273188	0.13133	0.07462964	0.16345	-2.956	0.09715	T	.	.	0.088	0.11606	B	.	.	-0.268644	0.02757	0.370	0.88702386252432242	0.18186	0.02276	0.06567	N	AEFDBCI	0.048543	0.08294	N	-1.39121661418668	0.02720	0.1204962	-1.46774553603141	0.02613	0.1204871	0.999999582493396	0.74766	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	4.1	-6.6	0.01657	-1.731000	0.01953	-4.457000	0.02147	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.3446:0.2617:0.3937	5.521	0.16220	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	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	570.33	40	chr2	45953	.	T	C	570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.985;DP=781;ExcessHet=0;FS=10.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=1.32;SOR=0.732	GT:AD:DP:GQ:PL	0/1:46,26:72:99:584,0,1295	18	0	1	0
chr2	1267494	1267494	G	A	exonic	SNTG2	.	nonsynonymous SNV	SNTG2:NM_018968:exon14:c.G1207A:p.V403M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.121845791434	8.2e-05	.	.	.	.	.	.	.	.	.	.	.	.	rs373854662	1.232e-05	1.231e-05	1.089e-05	1.375e-05	1.619e-05	7.7e-06	6.35e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.92359	D	0.000010	0.62929	D	0.064948	1	0.81001	D	2.62	0.76659	M	-1.14	0.77843	T	-2.84	0.60982	D	0.569	0.64308	0.409	0.89233	D	0.635	0.87219	D	10	0.77288336	0.77224	D	0.121846	0.80270	D	0.554	0.81601	.	.	0.816140063499	0.81441	0.6990113195975344	0.69842	0.316933666598	0.33943	0.553874254227	0.46404	T	0.208755	0.56877	T	0.213226	0.75136	D	0.0685085	0.74811	D	0.970504701137543	0.68973	D	0.892211	0.62852	D	0.41121703	0.61501	0.34126624	0.59868	0.41121703	0.61502	0.34126624	0.59867	-10.704	0.80469	D	.	.	0.182	0.39459	B	.;.	.;.	3.845896	0.55678	23.6	0.99831894831142198	0.91370	0.97998	0.78750	D	AEFGBI	0.810100	0.73344	D	0.537670714570277	0.69334	5.34227	0.393336184482028	0.61154	4.311565	0.999997393349102	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.61	4.61	0.56724	7.486000	0.80232	6.219000	0.55104	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.059000	0.15899	0.0:0.0:1.0:0.0	17.042	0.86366	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3423.33	258	chr2	1267494	.	G	A	3423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.94;DP=3312;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.854;SOR=0.611	GT:AD:DP:GQ:PL	0/1:134,132:266:99:3437,0,3283	18	0	1	0
chr2	9452935	9452935	A	G	exonic	CPSF3	.	nonsynonymous SNV	CPSF3:NM_001321833:exon12:c.A1307G:p.K436R,CPSF3:NM_001321834:exon12:c.A1307G:p.K436R,CPSF3:NM_001321835:exon12:c.A1001G:p.K334R,CPSF3:NM_016207:exon12:c.A1418G:p.K473R,CPSF3:NM_001321836:exon13:c.A1430G:p.K477R	.	435	1072	15	0	0	15	0.00694766	.	.	.	2815523	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.00916414986072	0.0045	0.00339457	0.0046	0.0014	0.0057	0	0.0003	0.0066	0.0022	0.0019	0.0045601	705	154602	rs1128215	0.0064	0.0064	0.0065	0.0063	0.0148	0.0063	0.0062	0.0122	0.0113	0.0012	0.0058	0.0156	2.522e-05	0.0005	0.0148	0.0071	0.0077	0.0019	0.0044	0.0043	0.0044	0.0043	0.0065	0.0041	0.0040	0.0060	0.0058	0.0013	0	0.0049	0.0161	0	0.0004	0.0374	0.0065	0.0080	0.0014	0.175	0.23631	T	0.251	0.24987	T	0.0	0.02946	B	0.004	0.10090	B	0.000001	0.62929	N	0.096092	0.999995	0.58761	D	0.85	0.21244	L	0.9	0.45248	T	-1.17	0.29933	N	0.271	0.36884	-1.0930	0.05051	T	0.059	0.24797	T	10	0.009083629	0.00205	T	0.009164	0.24083	T	0.065	0.18881	.	.	0.534191878353	0.53070	0.36333158560544615	0.36247	0.360493717213	0.37718	0.644317030907	0.59177	T	0.035966	0.23924	T	-0.573346	0.00211	T	-0.592203	0.13476	T	0.0149002921350576	0.00317	T	0.836816	0.50885	T	0.13815202	0.31962	0.16709857	0.38569	0.13815202	0.31961	0.16709857	0.38568	-6.108	0.47174	T	.	.	0.069	0.03162	B	.;.	.;.	2.653231	0.34548	19.66	0.99593209825021978	0.73748	0.92775	0.56515	D	AEFDBI	0.262052	0.37988	N	-0.200126292962074	0.33129	1.876089	-0.0107525427220578	0.39228	2.322746	0.87509975930707	0.25498	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.81	4.65	0.57626	3.575000	0.53614	4.610000	0.44033	0.728000	0.85494	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9306:0.0:0.0694:0.0	11.640	0.50486	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	0	0	1	0	0.012085	0.005051	0.010870	0.023392	0.050000	0.000000	0.012195	0.003788	0.02632	522.33	38	chr2	9452935	.	A	G	522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.945;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.01;ReadPosRankSum=0.094;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,20:29:99:536,0,218	18	0	1	0
chr2	17515931	17515931	A	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.T2485A:p.Y829N,RAD51AP2:NM_001321233:exon5:c.T2458A:p.Y820N	.	467	1050	5	0	0	5	0.0023753	.	.	.	2427274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.0224668206143	0.0003	.	0.0002	0	0	0	0	0.0002	0.0011	0.0008	0.0001811	28	154602	rs370600205	9.032e-05	9.577e-05	6.717e-05	0.0001	0.0010	7.749e-05	7.29e-05	0.0008	0.0007	0	0	0.0013	0	0	0.0004	6.311e-06	0.0001	0.0010	7.899e-05	7.884e-05	5.149e-05	0.0001	0.0010	4.504e-05	3.518e-05	0.0004	0.0003	0	0	0	0.0012	0	0	0	4.417e-05	0	0.0010	0.078	0.33923	T	0.074	0.42976	T	0.4	0.34852	B	0.252	0.39069	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.33	0.35031	T	-5.49	0.85765	D	0.292	0.33030	-0.9623	0.38742	T	0.056	0.23488	T	9	0.018589675	0.00406	T	0.022467	0.45362	T	0.025	0.05312	.	.	0.0762999501168	0.06990	0.07542390067140127	0.07478	0.140722918308	0.15870	0.291297465563	0.09110	T	0.069886	0.33822	T	-0.491776	0.00636	T	-0.55844	0.16523	T	0.0968670818173914	0.12007	T	0.605339	0.22755	T	0.14584185	0.33413	0.3256797	0.58482	0.14584185	0.33412	0.3256797	0.58481	-1.494	0.01752	T	.	.	0.086	0.10787	B	.	.	0.027255	0.04473	1.189	0.61537561846614452	0.06734	0.03399	0.08513	N	AEDGBI	0.043322	0.06836	N	-1.20696287281599	0.04897	0.2220251	-1.35854085801754	0.03706	0.1734319	0.999244826510629	0.38873	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	-6.59	0.01663	-0.392000	0.07375	-0.096000	0.11999	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.363000	0.25954	0.5446:0.0995:0.3558:0.0	9.037	0.35458	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	3939.83	36	chr2	17515931	.	A	T	3939.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.89;DP=1670;ExcessHet=0.119;FS=0.422;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.038;SOR=0.648	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1753,0,1669	17	0	2	0
chr2	20308537	20308537	C	T	exonic	PUM2	.	nonsynonymous SNV	PUM2:NM_001282752:exon5:c.G398A:p.R133H,PUM2:NM_001282790:exon5:c.G566A:p.R189H,PUM2:NM_001282791:exon6:c.G398A:p.R133H,PUM2:NM_001352917:exon6:c.G566A:p.R189H,PUM2:NM_001352918:exon6:c.G566A:p.R189H,PUM2:NM_001352919:exon6:c.G566A:p.R189H,PUM2:NM_001352920:exon6:c.G566A:p.R189H,PUM2:NM_001352923:exon6:c.G566A:p.R189H,PUM2:NM_001352925:exon6:c.G566A:p.R189H,PUM2:NM_001352926:exon6:c.G566A:p.R189H,PUM2:NM_001352927:exon6:c.G566A:p.R189H,PUM2:NM_001352928:exon6:c.G566A:p.R189H,PUM2:NM_015317:exon6:c.G566A:p.R189H,PUM2:NM_001352929:exon7:c.G398A:p.R133H	.	.	.	.	.	.	.	.	.	.	.	3582270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0146109401228	.	.	5.803e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs773602472	1.574e-05	1.573e-05	8.169e-06	2.338e-05	0.0005	1.048e-05	8.75e-06	0.0003	0.0002	2.988e-05	0	0	0.0005	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.109	0.37449	T	0.996	0.68779	D	0.796	0.58006	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	2.22	0.18875	T	-0.68	0.26639	N	0.628	0.65245	-1.1067	0.03369	T	0.087	0.33802	T	10	0.09733656	0.17524	T	0.014611	0.34839	T	0.132	0.35948	0.195	0.10705	0.184605227958	0.18053	0.29254994196472944	0.29167	1.20288586385	0.80593	0.643659949303	0.59085	T	0.021506	0.20509	T	-0.231671	0.16429	T	-0.19471	0.55147	T	0.266427731193125	0.23594	T	0.979602	0.95194	D	.	.	.	.	.	.	.	.	-5.084	0.38054	T	.	.	0.126	0.26700	B	.;.;.;.;.;.	.;.;.;.;.;.	5.203464	0.87303	29.2	0.9994505745873985	0.99886	0.98985	0.89557	D	AEFDBI	0.794263	0.72202	D	0.387587286900382	0.60749	4.267292	0.46792257560914	0.65877	4.879502	0.999999982313721	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	5.2	0.71720	4.917000	0.63068	4.927000	0.46095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9333:0.0:0.0667	15.299	0.73631	829	0.39537	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1517.33	36	chr2	20308537	.	C	T	1517.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=754;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.195;SOR=0.558	GT:AD:DP:GQ:PL	0/1:46,59:105:99:1531,0,1016	18	0	1	0
chr2	20619129	20619129	A	C	exonic	HS1BP3	.	nonsynonymous SNV	HS1BP3:NM_022460:exon7:c.T1037G:p.V346G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0109265782619	.	0.000798722	0.0004	0	0	0.0053	0	0	0.0011	0	0.0003299	51	154602	rs183773608	0.0002	0.0003	0.0002	0.0003	0.0089	0.0002	0.0002	0.0081	0.0078	0	0	0	0.0089	0	0	1.799e-06	0.0002	0	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0001	0.0040	0.0035	0	0	0	0	0.0056	9.506e-05	0	1.472e-05	0.0005	0	0.035	0.43708	D	0.368	0.16570	T	0.002	0.09854	B	0.003	0.08700	B	0.493734	0.05051	N	1.341480	1	0.08975	N	1.735	0.44892	L	2.12	0.19726	T	-1.85	0.43334	N	0.125	0.11769	-0.9939	0.31591	T	0.034	0.14464	T	10	0.0042313337	0.00085	T	0.010927	0.28020	T	0.031	0.07369	.	.	0.193865811164	0.18958	0.2064622341911485	0.20563	0.172126857099	0.19387	0.248938858509	0.03656	T	0.006293	0.05726	T	-0.565388	0.00236	T	-0.584101	0.14181	T	0.0298435777309106	0.01965	T	0.413959	0.10802	T	0.09398987	0.22088	0.087375976	0.20305	0.09398987	0.22088	0.087375976	0.20304	-5.728	0.43942	T	.	.	0.120	0.24800	B	.	.	1.313624	0.17168	13.00	0.93399428828064579	0.23157	0.11881	0.16921	N	AEFGBCI	0.117574	0.23027	N	-0.80725347869874	0.13124	0.6443807	-0.798806666344339	0.14525	0.7593352	0.999999697704589	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.47	3.11	0.34883	0.234000	0.17708	1.190000	0.24759	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.668000	0.33194	0.8179:0.0:0.1821:0.0	6.926	0.23596	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1482.33	42	chr2	20619129	.	A	C	1482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.243;SOR=0.62	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1496,0,810	18	0	1	0
chr2	24799720	24799720	C	A	exonic	CENPO	.	nonsynonymous SNV	CENPO:NM_001199803:exon2:c.C74A:p.S25Y,CENPO:NM_001322101:exon3:c.C92A:p.S31Y,CENPO:NM_024322:exon3:c.C92A:p.S31Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	.	0.00239617	0.0007	0	0	0.0092	0	0	0.0011	0.0004	0.0006856	106	154602	rs142759452	0.0002	0.0002	0.0003	0.0002	0.0058	0.0002	0.0002	0.0052	0.0050	0	2.236e-05	0	0.0058	0	0.0002	4.496e-06	0.0010	0.0007	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0074	0.0066	0	0	0	0	0.0095	0	0	0	0	0.0015	0.192	0.20988	T	0.12	0.35970	T	0.845	0.46707	P	0.361	0.47904	B	0.005302	0.32910	N	0.220173	1	0.08975	N	2.135	0.59519	M	0.8	0.49068	T	-2.04	0.46842	N	0.357	0.39861	-0.9897	0.32677	T	0.080	0.31645	T	10	0.003691256	0.00068	T	.	.	.	0.078	0.22779	.	.	0.516659694907	0.51310	0.2960349776563589	0.29516	0.430764046418	0.43306	0.374795973301	0.21517	T	0.024534	0.18521	T	-0.44458	0.01215	T	-0.40199	0.33153	T	0.0574092738530819	0.06755	T	0.59684	0.22194	T	0.1045646	0.24721	0.10190353	0.24409	0.1045646	0.24720	0.10190353	0.24408	-2.274	0.08128	T	.	.	0.091	0.18497	B	.;.;.	.;.;.	0.749904	0.11194	7.831	0.83591910360255683	0.14810	0.17866	0.20021	N	AEFBI	0.085296	0.17290	N	-0.17334023292879	0.34248	1.952494	-0.292752844621714	0.28337	1.579224	0.999647850776758	0.41316	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.54	4.54	0.55220	1.038000	0.29863	0.318000	0.17154	0.585000	0.30472	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.0:1.0:0.0:0.0	12.699	0.56389	364	0.84707	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1267.33	38	chr2	24799720	.	C	A	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.188;DP=875;ExcessHet=0;FS=1.454;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.94;SOR=0.83	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1281,0,1756	18	0	1	0
chr2	26197705	26197705	T	C	exonic	HADHA	.	nonsynonymous SNV	HADHA:NM_000182:exon14:c.A1465G:p.K489E	Fatty liver, acute, of pregnancy, Autosomal recessive;HELLP syndrome, maternal, of pregnancy, Autosomal recessive;LCHAD deficiency, Autosomal recessive;Trifunctional protein deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	486890	Mitochondrial_trifunctional_protein_deficiency|Long_chain_3-hydroxyacyl-CoA_dehydrogenase_deficiency|Mitochondrial_trifunctional_protein_deficiency_1|not_provided	MONDO:MONDO:0012172,MedGen:C1969443,OMIM:PS609015,Orphanet:746|MONDO:MONDO:0012173,MedGen:C3711645,OMIM:609016,Orphanet:5|MONDO:MONDO:0958181,MedGen:CN376812,OMIM:609015|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.371	0.0320499147111	0.0002	0.00119808	0.0002	0.0004	0	0.0017	0	0	0	0.0001	0.0002264	35	154602	rs145422395	6.763e-05	7.466e-05	5.138e-05	8.369e-05	0.0006	5.596e-05	5.179e-05	0.0004	0.0003	0	0	0	0.0006	0	0	1.31e-05	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0015	0.0012	0.0003	0	0	0	0.0025	0	0	0	0.0005	0.0006	0.139	0.25768	T	0.336	0.18232	T	0.122	0.26746	B	0.292	0.40739	B	0.000000	0.84330	D	0.040063	0.999988	0.54805	D	1.805	0.47535	L	-1.05	0.76690	T	-1.93	0.44852	N	0.57	0.59308	-0.5199	0.67917	T	0.395	0.74771	T	10	0.022107005	0.00544	T	0.03205	0.53977	D	0.371	0.69016	.	.	0.713007841789	0.71049	0.6128944860860636	0.61221	0.7545477971	0.63944	0.58507835865	0.50801	T	0.51979	0.83185	D	-0.230399	0.16596	T	-0.144262	0.59748	T	0.051258303280453	0.05720	T	0.936606	0.76191	D	0.8044772	0.84193	0.66988146	0.80632	0.8044772	0.84195	0.66988146	0.80633	-12.815	0.88586	D	0.5065340055728946	0.58090	0.132	0.28550	B	.;.;.	.;.;.	3.956616	0.58003	23.9	0.99808836469536388	0.89264	0.94368	0.60943	D	AEFDGBHCI	0.608759	0.59822	D	-0.0203284285484779	0.40937	2.439752	0.106878763046652	0.44898	2.762872	0.999998610064728	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.68	4.5	0.54382	4.059000	0.57184	5.135000	0.47677	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.2823:0.7177	11.505	0.49713	683	0.59664	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	568.33	35	chr2	26197705	.	T	C	568.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.463;DP=684;ExcessHet=0;FS=3.817;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-0.008;SOR=0.296	GT:AD:DP:GQ:PL	0/1:32,25:57:99:582,0,908	18	0	1	0
chr2	27370287	27370287	C	G	exonic	EIF2B4	.	nonsynonymous SNV	EIF2B4:NM_001034116:exon1:c.G28C:p.E10Q,EIF2B4:NM_015636:exon1:c.G28C:p.E10Q	Leukoencephaly with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.394593408713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs542570644	2.436e-05	2.394e-05	2.548e-05	2.321e-05	0.0007	1.753e-05	1.547e-05	0.0002	0.0001	0	0.0001	0	0	0	0.0007	1.757e-05	0.0001	1.256e-05	5.907e-05	5.905e-05	1.284e-05	0.0001	0.0004	3.074e-05	2.208e-05	0.0001	8.276e-05	0	0	0.0003	0	0	0	0	2.94e-05	0	0.0004	0.015	0.52492	D	0.387	0.17531	T	0.029	0.22331	B	0.057	0.32300	B	0.983335	0.08079	N	0.992704	1	0.81001	D	1.39	0.34934	L	-3.46	0.94508	D	-0.34	0.12661	N	0.207	0.22998	-0.0607	0.80978	T	0.704	0.89827	D	10	0.10210335	0.18693	T	0.394593	0.93264	D	0.211	0.50185	0.179	0.08626	0.594013328804	0.59079	.	.	.	.	.	.	.	0.006719	0.25553	T	-0.18603	0.22842	T	-0.240567	0.50743	T	0.0780466168391562	0.09734	T	0.770723	0.40088	T	0.2425328	0.47182	0.15180118	0.35744	0.2425328	0.47182	0.15180118	0.35743	-4.156	0.26170	T	.	.	0.224	0.45495	B	.;.;.	.;.;.	1.651048	0.21061	15.03	0.98552601546525298	0.42871	0.22346	0.21715	N	ALL	0.250938	0.37090	N	-0.514591586284088	0.21607	1.147964	-0.422531005526238	0.24337	1.332165	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.18	4.24	0.49486	-0.130000	0.10477	1.517000	0.27065	0.524000	0.24156	0.000000	0.06391	0.888000	0.27792	0.644000	0.32530	0.0:0.8844:0.0:0.1156	8.916	0.34740	321	0.86949	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	565.33	35	chr2	27370287	.	C	G	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=718;ExcessHet=0;FS=3.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=0.353;SOR=1.27	GT:AD:DP:GQ:PL	0/1:42,24:66:99:579,0,1143	18	0	1	0
chr2	27445394	27445394	C	T	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon46:c.G4970A:p.R1657Q	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3263821	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.0152116491581	.	.	9.271e-06	0	0	0	0	1.664e-05	0	0	1.29e-05	2	154602	rs766353582	2.944e-05	3.01e-05	3.133e-05	2.753e-05	0.0002	2.218e-05	1.971e-05	2.371e-05	2.104e-05	5.976e-05	0	0	0	0	0.0002	3.239e-05	6.628e-05	0	1.314e-05	1.313e-05	1.286e-05	1.344e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.485	0.08115	T	0.627	0.07267	T	0.33	0.33247	B	0.043	0.24256	B	0.000005	0.62929	D	0.063715	0.999993	0.81001	D	0.51	0.13489	N	1.05	0.39990	T	-0.17	0.09627	N	0.462	0.49874	-1.0696	0.09501	T	0.059	0.24612	T	10	0.1937328	0.35154	T	0.015212	0.35810	T	0.047	0.12962	0.243	0.17677	0.286465849087	0.28247	0.31684449800213965	0.31597	0.210666846013	0.23558	0.576460421085	0.49586	T	0.082726	0.36893	T	-0.156033	0.27372	T	-0.398261	0.33586	T	0.232868889359833	0.22087	T	0.966403	0.87711	D	0.13004255	0.30354	0.10111874	0.24197	0.13004255	0.30354	0.10111874	0.24196	-3.326	0.14074	T	0.11923076855938967	0.11085	0.084	0.09675	B	.	.	3.429605	0.47660	22.5	0.90790806040158412	0.20040	0.95157	0.63647	D	AEFDBI	0.581663	0.58159	D	-0.0669167994272967	0.38850	2.281819	0.131588917882724	0.46174	2.867719	0.99999999214598	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.22	5.22	0.72285	4.681000	0.61353	4.859000	0.45451	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.467	0.75142	62	0.97349	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1182.33	39	chr2	27445394	.	C	T	1182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=758;ExcessHet=0;FS=1.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.051;SOR=0.605	GT:AD:DP:GQ:PL	0/1:52,45:97:99:1196,0,1368	18	0	1	0
chr2	36808551	36808551	T	A	exonic	VIT	.	nonsynonymous SNV	VIT:NM_001177970:exon13:c.T1361A:p.V454E,VIT:NM_001177971:exon13:c.T1358A:p.V453E,VIT:NM_001177969:exon14:c.T1424A:p.V475E,VIT:NM_001328661:exon14:c.T1403A:p.V468E,VIT:NM_053276:exon15:c.T1469A:p.V490E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.0689531476277	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923432194	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.005	0.74150	D	0.985	0.61118	D	0.923	0.65830	D	0.000018	0.62929	D	0.115897	0.999989	0.58761	D	2.43	0.70455	M	0.47	0.56114	T	-3.25	0.69835	D	0.799	0.79503	-0.5914	0.65165	T	0.276	0.64742	T	10	0.7380029	0.74757	D	0.068953	0.70595	D	0.241	0.54641	0.67	0.80803	0.688990105682	0.68632	0.9172248043982921	0.91697	0.0489332366469	0.05346	0.445464611053	0.31324	T	0.348745	0.71669	T	-0.0806893	0.39602	T	-0.256827	0.49140	T	0.930004179477692	0.59443	D	0.928207	0.74555	D	0.43428695	0.63032	0.4857524	0.70235	0.43428695	0.63033	0.4857524	0.70235	-14.91	0.96401	D	.	.	0.378	0.58487	A	.;.;.;.;.;.	.;.;.;.;.;.	4.262252	0.64784	24.7	0.98555528601929077	0.42909	0.91198	0.53052	D	AEFBCI	0.719386	0.67029	D	0.304820295171823	0.56397	3.804203	0.219925142477622	0.50953	3.282252	0.999463399567322	0.39843	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.26	2.93	0.33092	4.004000	0.56780	3.462000	0.38521	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.341000	0.25455	0.0:0.1494:0.0:0.8506	9.004	0.35264	720	0.55521	.;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	.	.	.	.	.	.	.	.	0.02632	2075.33	36	chr2	36808551	.	T	A	2075.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=804;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.006;SOR=0.696	GT:AD:DP:GQ:PL	0/1:71,76:147:99:2089,0,1796	18	0	1	0
chr2	65018676	65018676	T	C	exonic	SLC1A4	.	nonsynonymous SNV	SLC1A4:NM_001193493:exon6:c.T467C:p.I156T,SLC1A4:NM_001348406:exon7:c.T701C:p.I234T,SLC1A4:NM_001348407:exon7:c.T701C:p.I234T,SLC1A4:NM_003038:exon7:c.T1361C:p.I454T	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.106596639987	7.7e-05	.	8.243e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs376729396	2.394e-05	2.394e-05	2.995e-05	1.788e-05	4.472e-05	1.738e-05	1.539e-05	1.746e-05	1.503e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	2.518e-05	4.967e-05	0	3.944e-05	3.94e-05	5.141e-05	2.69e-05	7.241e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.241e-05	0	6.552e-05	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.003	0.76473	D	0.987	0.61912	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.75	0.95014	H	0.05	0.61923	T	-2.31	0.58085	N	0.953	0.99670	0.184	0.85639	D	0.508	0.81507	D	10	0.85410285	0.84600	D	0.106597	0.78228	D	0.586	0.83416	.	.	0.918698969145	0.91787	0.9088934662583353	0.90863	1.17662573671	0.79888	0.858147025108	0.90837	D	0.515545	0.82958	D	0.175057	0.71587	D	0.293116	0.87857	D	0.913348972797394	0.56958	D	0.963904	0.86656	D	0.83406717	0.86187	0.73104954	0.84108	0.83406717	0.86188	0.73104954	0.84109	-7.957	0.60776	D	0.34939980664409265	0.44670	0.748	0.76407	P	.;.	.;.	4.979870	0.82485	27.8	0.99826966265997918	0.90939	0.97062	0.72468	D	AEFDBCIJ	0.907113	0.86073	D	0.911667442714906	0.92320	11.35606	0.875209298230321	0.94398	12.731	0.999999999999992	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.92	5.92	0.95557	8.017000	0.88732	7.935000	0.75225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.378	0.83253	886	0.28090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	772.33	40	chr2	65018676	.	T	C	772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.245;DP=719;ExcessHet=0;FS=0.927;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.766;SOR=0.504	GT:AD:DP:GQ:PL	0/1:42,30:72:99:786,0,1211	18	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	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:113,40:153:99:953,0,3302	0	0	19	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:151,20:171:99:188,0,4443	5	0	14	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:130,82:212:99:1705,0,3606	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:131,54:185:99:1502,0,3931	0	0	19	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	5066.16	228	chr2	95855586	.	T	C	5066.16	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.521;DP=5385;ExcessHet=13.8672;FS=16.143;InbreedingCoeff=-0.5518;MLEAC=13;MLEAF=0.342;MQ=47.07;MQRankSum=-6.648;QD=1.42;ReadPosRankSum=-2.146;SOR=2.347	GT:AD:DP:GQ:PL	0/1:158,26:184:99:307,0,6328	6	0	13	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:136,45:181:99:1136,0,4128	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:70,8:78:65:65,0,2881	6	0	13	0
chr2	95859919	95859922	TTTC	-	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.4933_4936del:p.E1645*	.	883	625	11	3	0	17	0.0134175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs768643439	2.009e-05	0.0015	1.84e-05	2.183e-05	6.369e-05	1.393e-05	1.199e-05	2.459e-05	1.549e-05	6.369e-05	2.828e-05	0	2.817e-05	0.0003	0	2.786e-06	3.457e-05	6.362e-05	6.589e-06	0.0009	1.289e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	230.75	104	chr2	95859918	.	ATTTC	A	230.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.928;DP=2254;ExcessHet=0.3672;FS=0.711;InbreedingCoeff=-0.0856;MLEAC=3;MLEAF=0.079;MQ=58.54;MQRankSum=-4.385;QD=0.62;ReadPosRankSum=0.84;SOR=0.583	GT:AD:DP:GQ:PL	0/1:90,9:99:99:107,0,3725	16	0	3	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,23:121:99:0|1:95859969_A_AT:627,0,3991:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,23:121:99:0|1:95859969_A_AT:627,0,3991:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,23:121:99:0|1:95859969_A_AT:636,0,3991:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:100,20:120:99:510,0,2579	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,19:118:99:0|1:95860002_T_A:500,0,4096:95860002	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,18:119:99:0|1:95860002_T_A:452,0,4142:95860002	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,15:113:99:0|1:95860020_G_A:335,0,3983:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,13:110:99:0|1:95860020_G_A:254,0,3954:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:76,7:83:66:66,0,2057	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,18:76:99:0|1:95927222_G_GAT:581,0,2381:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,23:85:99:0|1:95927222_G_GAT:779,0,2534:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,28:88:99:0|1:95927222_G_GAT:995,0,2435:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,44:122:99:0|1:95927222_G_GAT:1613,0,3143:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,63:144:99:0|1:95927222_G_GAT:2381,0,3212:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,65:146:99:0|1:95927222_G_GAT:2425,0,3174:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,34:120:99:0|1:95929092_T_C:1098,0,3436:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,39:132:99:0|1:95929092_T_C:1358,0,3788:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,52:154:99:0|1:95929092_T_C:1876,0,4126:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,56:163:99:0|1:95929092_T_C:2029,0,4324:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,59:170:99:0|1:95929092_T_C:2124,0,4455:95929092	0	0	19	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,10:102:99:0|1:97185336_GC_G:143,0,3833:97185336	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,10:106:99:0|1:97185336_GC_G:131,0,4001:97185336	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,10:107:99:0|1:97185336_GC_G:128,0,4043:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,10:109:99:0|1:97185336_GC_G:122,0,4127:97185336	2	0	17	0
chr2	97196788	97196788	G	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon42:c.G2653C:p.V885L	.	548	972	2	0	0	2	0.00102775	1.0000	0.876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413627419	5.021e-06	6.156e-06	4.249e-06	5.813e-06	5.56e-06	2.09e-06	1.34e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.56e-06	1.723e-05	0	6.582e-06	6.569e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.0	0.91255	D	0.069	0.43913	T	0.734	0.42776	P	0.55	0.49239	P	.	.	.	.	1	0.08975	N	1.75	0.45442	L	-1.14	0.77843	T	-0.16	0.09460	N	0.12	0.11054	-0.6115	0.64341	T	0.428	0.77101	T	8	0.15589231	0.29371	T	0.007485	0.19846	T	0.189	0.46613	0.076	0.00544	0.514811571519	0.51123	.	.	.	.	0.732054591179	0.71807	T	0.002366	0.01759	T	-0.234497	0.16060	T	-0.446837	0.28048	T	0.195064420463176	0.20139	T	0.569643	0.20837	T	0.24145216	0.47061	0.2600372	0.51761	0.24145216	0.47061	0.2600372	0.51760	-8.207	0.62472	D	.	.	0.442	0.61806	A	.;.	.;.	3.602124	0.50884	23.0	0.86650243096674007	0.16679	0.25467	0.22707	N	AEFGBI	0.070875	0.14085	N	-0.409246735889057	0.25145	1.362777	-0.607367550776906	0.19304	1.035073	0.0590397470283429	0.15147	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.192219	0.04218	2	.	.	0.673	0.673	0.17109	1.873000	0.39195	2.559000	0.33304	0.323000	0.19410	0.994000	0.38300	1.000000	0.68203	0.032000	0.13371	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	643.33	43	chr2	97196788	.	G	C	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.753;DP=844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=1.07;SOR=0.7	GT:AD:DP:GQ:PL	0/1:18,27:45:99:657,0,460	18	0	1	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1112.14	36	chr2	97243965	.	C	A	1112.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.5;DP=1690;ExcessHet=4.0268;FS=20.316;InbreedingCoeff=-0.2647;MLEAC=8;MLEAF=0.211;MQ=38.8;MQRankSum=-3.599;QD=0.97;ReadPosRankSum=-1.119;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,4:46:21:0|1:97243955_G_A:21,0,1721:97243955	11	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,4:45:45:0|1:97243981_C_T:45,0,1710:97243981	8	0	11	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,6:48:99:0|1:97243981_C_T:126,0,1746:97243981	7	0	12	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,33:127:99:0|1:97513219_T_C:1103,0,3848:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,37:137:99:0|1:97513219_T_C:1191,0,4088:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,53:154:99:.:.:1812,0,2329:.	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,52:164:99:0|1:97513253_A_G:1846,0,4508:97513253	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,52:164:99:0|1:97513253_A_G:1846,0,4508:97513253	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,58:175:99:0|1:97513268_C_T:2084,0,4703:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,58:178:99:0|1:97513268_C_T:2075,0,4785:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,58:177:99:0|1:97513268_C_T:2077,0,4778:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,59:182:99:0|1:97513268_C_T:2093,0,4792:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:90,21:111:99:274,0,2257	0	0	19	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	144.83	36	chr2	106413119	.	A	G	144.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=682;ExcessHet=0.119;FS=27.969;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=47.82;MQRankSum=-3.338;QD=1.77;ReadPosRankSum=-0.833;SOR=4.777	GT:AD:DP:GQ:PL	0/1:24,5:29:72:72,0,662	17	0	2	0
chr2	106425126	106425126	T	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.A2841C:p.L947F	.	113	1395	14	0	0	14	0.00499287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0020587420718	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1476016006	0.0005	0.0005	0.0005	0.0006	0.0046	0.0005	0.0005	0.0030	0.0025	0.0020	0.0011	0.0091	0.0005	9.36e-05	0.0046	0.0002	0.0014	0.0005	0.0019	0.0024	0.0019	0.0020	0.0025	0.0018	0.0017	0.0021	0.0020	0.0025	0.0066	0.0022	0.0203	0.0004	0	0.0308	0.0009	0.0033	0.0010	0.574	0.06106	T	0.78	0.04330	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999998	0.08975	N	-1.01	0.01154	N	0.99	0.41750	T	-0.98	0.25986	N	0.03	0.00942	-1.0068	0.27912	T	0.031	0.13330	T	9	0.005949378	0.00133	T	0.002059	0.03775	T	0.030	0.07022	0.216	0.13643	0.0138822411134	0.00435	0.018732201110094104	0.01827	.	.	0.342962920666	0.16881	T	0.001418	0.00874	T	-0.354284	0.04464	T	-0.746681	0.03617	T	0.0213250157278407	0.00834	T	0.0176316	0.00098	T	0.034799747	0.03973	0.05283961	0.08786	0.034799747	0.03973	0.05283961	0.08785	-4.196	0.26694	T	.	.	0.050	0.00681	B	.;.	.;.	-0.178293	0.03203	0.531	0.095329349896583163	0.00099	0.01478	0.04921	N	AEFI	0.048129	0.08182	N	-1.51119489834506	0.01775	0.07778743	-1.43651834146274	0.02894	0.1340043	6.37762098460014E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.35	1.35	0.21078	0.207000	0.17194	0.674000	0.20619	-0.675000	0.04277	0.001000	0.13787	0.023000	0.20922	0.056000	0.15673	0.3626:0.0:0.3923:0.2451	2.125	0.03510	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	.	.	.	.	.	.	.	.	0.02632	182.33	45	chr2	106425126	.	T	G	182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.91;DP=902;ExcessHet=0;FS=0.883;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.17;MQRankSum=-6.895;QD=1.28;ReadPosRankSum=3.52;SOR=0.812	GT:AD:DP:GQ:PL	0/1:120,22:142:99:196,0,3426	18	0	1	0
chr2	119263325	119263325	C	T	exonic	STEAP3	.	nonsynonymous SNV	STEAP3:NM_001008410:exon5:c.C1454T:p.T485M,STEAP3:NM_018234:exon6:c.C1454T:p.T485M,STEAP3:NM_182915:exon6:c.C1484T:p.T495M	.	413	1096	13	0	0	13	0.00589569	.	.	.	3803973	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.121	.	7.7e-05	0.0175719	0.0106	0.0001	0.0007	0	0	3.711e-05	0.0085	0.0701	0.0076713	1186	154602	rs141086904	0.0037	0.0037	0.0021	0.0053	0.0596	0.0036	0.0036	0.0583	0.0577	0.0002	4.494e-05	0	5.043e-05	0	0.0014	3.059e-05	0.0039	0.0596	0.0022	0.0022	0.0014	0.0031	0.0666	0.0020	0.0019	0.0606	0.0582	0.0002	0	6.546e-05	0	0.0004	0	0	1.471e-05	0.0014	0.0666	0.183	0.21718	T	0.012	0.63918	D	0.997	0.70673	D	0.784	0.57456	P	0.004593	0.33588	N	0.246616	1	0.81001	D	2.215	0.62545	M	3.11	0.08194	T	-0.34	0.12661	N	0.239	0.27077	-1.1777	0.00404	T	0.038	0.16203	T	9	0.0023077726	0.00034	T	.	.	.	0.121	0.33580	.	.	0.381239546501	0.37731	0.4382685838113282	0.43743	0.656627174343	0.58652	0.337816208601	0.16111	T	0.045491	0.27138	T	-0.476182	0.00779	T	-0.410442	0.32175	T	0.0282693833428354	0.01728	T	0.838216	0.51127	T	0.030691225	0.02777	0.04746581	0.06844	0.02951852	0.02460	0.04746581	0.06843	-4.83	0.36436	T	.	.	0.109	0.20780	B	.;.;.	.;.;.	3.490302	0.48778	22.7	0.99507748147826458	0.68440	0.62894	0.31921	D	AEFDBI	0.406900	0.47920	N	0.217874491831188	0.52066	3.383194	0.157484541678619	0.47541	2.982691	0.999998687254177	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.82	4.82	0.61641	2.198000	0.42339	4.870000	0.45558	0.599000	0.40250	0.785000	0.29533	1.000000	0.68203	0.110000	0.18741	0.0:0.9129:0.0:0.0871	10.632	0.44732	938	0.14419	.;.;.	.	.	.	.	.	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	0.008056	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.030303	0.02632	335.33	34	chr2	119263325	.	C	T	335.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.276;DP=603;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.03;SOR=0.481	GT:AD:DP:GQ:PL	0/1:19,16:35:99:349,0,442	18	0	1	0
chr2	127620434	127620434	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon26:c.G3415A:p.G1139S	.	.	.	.	.	.	.	.	.	.	.	3206935	MYO7B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.761	.	0.0025	0.00259585	0.0010	0.0109	0.0005	0	0	6.114e-05	0	6.428e-05	0.0008991	139	154602	rs199900811	0.0003	0.0003	0.0004	0.0003	0.0108	0.0003	0.0003	0.0099	0.0095	0.0108	0.0007	0	0	5.636e-05	0.0009	3.071e-05	0.0009	4.67e-05	0.0032	0.0032	0.0031	0.0032	0.0106	0.0029	0.0028	0.0098	0.0095	0.0106	0	0.0018	0	0	0	0	5.883e-05	0.0038	0	0.098	0.30800	T	0.168	0.30631	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.89	0.50145	L	-2.84	0.91305	D	-5.65	0.86988	D	0.811	0.80669	0.393	0.88997	D	0.719	0.90368	D	10	0.015123755	0.00318	T	.	.	.	0.761	0.91879	.	.	0.864806235569	0.86349	0.6878761299856756	0.68727	0.415926434887	0.42235	0.725630760193	0.70869	T	0.250687	0.62082	T	-0.0790588	0.39869	T	0.124049	0.78502	D	0.0582590248090995	0.06892	T	0.967003	0.87984	D	0.65402657	0.75579	0.66022193	0.80093	0.65402657	0.75580	0.66022193	0.80094	-6.535	0.50556	T	.	.	0.245	0.48103	B	.;.	.;.	5.112594	0.85479	28.6	0.99868702467244774	0.94637	0.97798	0.77211	D	AEFDBI	0.953517	0.96987	D	0.608113122335976	0.73686	6.007019	0.582933204999272	0.73718	6.01635	0.999999999999908	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.16	4.16	0.48138	9.410000	0.96665	11.711000	0.94653	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.049	0.86387	946	0.12043	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 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	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	527.33	46	chr2	127620434	.	G	A	527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=3.31;SOR=0.892	GT:AD:DP:GQ:PL	0/1:18,20:38:99:541,0,443	18	0	1	0
chr2	130339141	130339141	C	A	exonic	CCDC115	.	nonsynonymous SNV	CCDC115:NM_001321118:exon5:c.G507T:p.Q169H,CCDC115:NM_001321119:exon5:c.G498T:p.Q166H,CCDC115:NM_032357:exon5:c.G522T:p.Q174H	Congenital disorder of glycosylation, type IIo, Autosomal recessive	430	1088	4	0	0	4	0.00183486	.	.	.	2125804	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.00210084697673	7.7e-05	0.000798722	0.0004	0	8.658e-05	0	0	4.507e-05	0	0.0029	0.0003687	57	154602	rs375063387	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	1.876e-05	0.0010	2.968e-05	0.0003	0.0025	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	9.696e-05	0.0022	0.0018	0	0	0.0001	0	0	0	0	8.819e-05	0	0.0035	0.088	0.34095	T	0.192	0.28300	T	0.001	0.12183	B	0.004	0.14941	B	0.753894	0.06500	N	1.124610	1	0.19072	N	1.785	0.46417	L	1.94	0.22678	T	-1.87	0.43717	N	0.121	0.16028	-0.9875	0.33224	T	0.036	0.15640	T	10	0.0072297156	0.00164	T	0.002101	0.03882	T	0.065	0.18881	0.094	0.01195	0.273938319068	0.27005	0.2672728501604312	0.26640	0.255596257143	0.28147	0.33934545517	0.16341	T	0.120973	0.44360	T	-0.600057	0.00146	T	-0.640264	0.09650	T	0.0463063327358821	0.04839	T	0.544846	0.18617	T	0.07897821	0.18016	0.036506947	0.03110	0.07897821	0.18016	0.036506947	0.03110	-4.967	0.36479	T	.	.	0.112	0.27283	B	.;.	.;.	1.375325	0.17862	13.41	0.95886090125588952	0.28090	0.48494	0.28219	N	AEFDBIJ	0.052660	0.09420	N	-0.709043830726751	0.15767	0.7974915	-0.693640714435391	0.17119	0.9088306	0.999948644710096	0.47345	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.0	1.07	0.19399	0.554000	0.23113	.	.	0.549000	0.26987	0.991000	0.37257	0.239000	0.23838	0.210000	0.22183	0.391:0.5017:0.0:0.1073	4.555	0.11529	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	774.33	33	chr2	130339141	.	C	A	774.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.355;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.554;SOR=0.773	GT:AD:DP:GQ:PL	0/1:47,32:79:99:788,0,1357	18	0	1	0
chr2	130509105	130509105	C	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.G131C:p.G44A,POTEI:NM_001371926:exon2:c.G131C:p.G44A	.	445	1073	3	0	1	4	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00670092047845	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1172032725	6.902e-07	1.373e-06	0	1.387e-06	9.026e-07	0	0	.	.	0	0	0	0	0	0	9.026e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.5	0.37844	L	-1.65	0.82625	D	-0.52	0.16187	N	0.073	0.19728	-0.7080	0.60051	T	0.346	0.71099	T	6	0.07718462	0.12150	T	0.006701	0.17699	T	0.165	0.42395	0.386	0.40624	0.0611884634855	0.05136	0.010405848084612982	0.01001	.	.	0.493091166019	0.37867	T	0.017477	0.14250	T	-0.191462	0.22043	T	-0.512799	0.21028	T	0.0550540752168022	0.06366	T	0.756024	0.38228	T	0.07629352	0.17246	0.09242864	0.21783	0.07629352	0.17245	0.09242864	0.21782	-8.85	0.66726	D	.	.	0.174	0.38043	B	.;.;.	.;.;.	2.182785	0.27823	17.59	0.85208430055464002	0.15751	0.00268	0.01460	N	AEFI	0.028725	0.02584	N	-1.2100028865274	0.04853	0.2199423	-1.43743100838247	0.02886	0.1335958	3.57838110354988E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-0.244000	0.08921	.	.	0.191000	0.17858	0.082000	0.22389	0.000000	0.08366	0.032000	0.13371	.	.	.	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	.	.	.	.	.	.	.	.	0.02778	1947.8	130	chr2	130509105	.	C	G	1947.8	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.661;DP=1433;ExcessHet=0.119;FS=2.63;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=49.4;MQRankSum=-0.039;QD=4.42;ReadPosRankSum=-0.374;SOR=0.488	GT:AD:DP:GQ:PL	0/1:81,76:157:99:1961,0,2086	17	0	1	1
chr2	131264570	131264570	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.G3115A:p.V1039M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.181998000204	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340227061	0.0008	0.0010	0.0009	0.0008	0.0013	0.0008	0.0007	0.0010	0.0009	0.0008	0.0002	5.28e-05	0.0013	0.0151	0.0003	0.0002	0.0010	0.0008	0.0012	0.0017	0.0008	0.0016	0.0026	0.0010	0.0010	0.0015	0.0012	0.0003	0	0	0	0.0026	0.0139	0	0.0003	0.0006	0.0015	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.86	0.61233	P	.	.	.	.	1	0.81001	D	4.845	0.99712	H	-3.6	0.95009	D	-2.22	0.49846	N	0.388	0.42931	0.818	0.94630	D	0.927	0.97604	D	8	0.03802854	0.02194	T	0.181998	0.85592	D	0.471	0.76487	0.772	0.89846	0.844756491308	0.84327	0.015369438433464408	0.01492	.	.	0.689803123474	0.65678	T	0.742892	0.92893	D	-0.17937	0.23830	T	-0.0312678	0.68284	D	0.17251884542116	0.18750	T	0.865513	0.56452	D	0.23717295	0.46577	0.2602486	0.51786	0.23717295	0.46577	0.2602486	0.51785	-10.918	0.79207	D	.	.	0.403	0.59716	A	.	.	3.087079	0.41550	21.4	0.99526757873198946	0.69591	0.63594	0.32138	D	AEFI	0.343255	0.43913	N	0.346296523023586	0.58544	4.027296	0.0171496876502731	0.40511	2.418871	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	6.898000	0.75496	.	.	0.199000	0.17910	1.000000	0.71638	0.993000	0.31925	0.563000	0.30483	8.0E-4:0.0:0.9992:0.0	5.905	0.18235	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	.	.	.	.	.	.	.	.	0.02632	153.35	6	chr2	131264570	.	G	A	153.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.633;DP=235;ExcessHet=0;FS=6.99;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.026;MQ=26.82;MQRankSum=-0.963;QD=10.22;ReadPosRankSum=-0.793;SOR=0.048	GT:AD:DP:GQ:PL	0/1:8,7:15:99:167,0,210	18	0	1	0
chr2	159225745	159225745	A	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon21:c.A3266G:p.Q1089R,TANC1:NM_001350063:exon22:c.A3500G:p.Q1167R,TANC1:NM_001145909:exon24:c.A3845G:p.Q1282R,TANC1:NM_001350064:exon24:c.A3848G:p.Q1283R,TANC1:NM_033394:exon24:c.A3869G:p.Q1290R,TANC1:NM_001350065:exon25:c.A3848G:p.Q1283R	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.0534964807248	0.0007	0.000798722	0.0018	0.0003	0.0028	0	0.0003	0.0013	0.0045	0.0056	0.0015847	245	154602	rs199615131	0.0011	0.0011	0.0009	0.0013	0.0066	0.0010	0.0010	0.0062	0.0060	0.0004	0.0018	0.0023	2.519e-05	9.36e-05	0.0019	0.0007	0.0020	0.0066	0.0007	0.0007	0.0007	0.0007	0.0052	0.0006	0.0006	0.0036	0.0031	9.62e-05	0	0.0012	0.0023	0	9.411e-05	0	0.0007	0.0009	0.0052	0.023	0.48186	D	0.145	0.33000	T	0.943	0.53072	P	0.811	0.58656	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-0.46	0.70014	T	-1.84	0.43149	N	0.61	0.62696	-0.1862	0.78024	T	0.442	0.78002	T	9	0.011367381	0.00249	T	0.053496	0.65491	D	0.530	0.80188	.	.	0.749038299637	0.74677	0.697122691076064	0.69653	0.46764219819	0.46137	0.793706059456	0.81006	T	0.185714	0.53878	T	-0.0687969	0.41519	T	0.130736	0.78940	D	0.0450868787807642	0.04617	T	0.854814	0.54193	D	0.37676585	0.59082	0.34330449	0.60044	0.37676585	0.59082	0.34330449	0.60044	-9.909	0.73365	D	.	.	0.244	0.47827	B	.	.	4.480025	0.69888	25.4	0.99865948305939289	0.94366	0.95888	0.66586	D	AEFDBHCI	0.939664	0.94057	D	0.695800779805498	0.79355	7.060656	0.718718804657128	0.83802	8.117907	1.0	0.98316	0.714207	0.82060	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616919	0.45865	0	.	.	5.63	5.63	0.86108	9.205000	0.94181	9.281000	0.79714	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.832	0.78541	651	0.62880	Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	682.33	33	chr2	159225745	.	A	G	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.531;DP=721;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.278;SOR=0.826	GT:AD:DP:GQ:PL	0/1:38,30:68:99:696,0,1120	18	0	1	0
chr2	176117357	176117357	C	T	exonic	HOXD10	.	nonsynonymous SNV	HOXD10:NM_002148:exon1:c.C524T:p.T175I	Charcot-Marie-Tooth disease, foot deformity of, Autosomal dominant;Vertical talus, congenital, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.0289503775012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.426	0.13872	T	0.001	0.07471	B	0.006	0.12133	B	0.000029	0.55875	D	0.161366	0.999973	0.53665	D	1.36	0.34107	L	-3.27	0.93640	D	-1.58	0.38151	N	0.714	0.71676	0.153	0.85105	D	0.720	0.90393	D	10	0.63892794	0.68943	D	0.02895	0.51542	D	0.415	0.72555	0.375	0.38830	0.936525638422	0.93587	0.34754309459326327	0.34668	0.101051018076	0.11422	0.719819486141	0.70020	T	0.226528	0.59157	T	0.264769	0.79969	D	0.142546	0.79711	D	0.72340589761734	0.41871	D	0.89801	0.64352	D	0.1601951	0.35944	0.23321559	0.48504	0.1601951	0.35944	0.23321559	0.48503	-5.76	0.44224	T	.	.	0.185	0.39982	B	.	.	4.986033	0.82625	27.8	0.98829335663409479	0.46919	0.95047	0.63245	D	AEFDBIJ	0.711029	0.66460	D	0.0418103546293579	0.43765	2.663194	0.254056935505751	0.52881	3.459975	0.999999999999962	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.99	5.99	0.97299	4.466000	0.59882	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.476	0.99179	719	0.55657	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2336.33	38	chr2	176117357	.	C	T	2336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.033;DP=837;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.639;SOR=0.606	GT:AD:DP:GQ:PL	0/1:118,94:212:99:2350,0,3097	18	0	1	0
chr2	178595558	178595558	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon123:c.A30601G:p.M10201V,TTN:NM_133432:exon124:c.A30976G:p.M10326V,TTN:NM_133437:exon124:c.A31177G:p.M10393V,TTN:NM_133378:exon244:c.A50092G:p.M16698V,TTN:NM_001256850:exon245:c.A52873G:p.M17625V,TTN:NM_001267550:exon295:c.A57796G:p.M19266V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2411496	Cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.0431530124307	8.4e-05	.	0.0001	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs372963343	2.113e-05	2.121e-05	1.672e-05	2.564e-05	0.0004	1.499e-05	1.301e-05	0.0002	0.0002	0	0	0	0	0	0.0004	3.674e-06	1.699e-05	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.554	0.06502	T	.	.	.	0.002	0.09854	B	0.011	0.15521	B	.	.	.	.	0.890397	0.35940	D	-0.695	0.01866	N	0.7	0.51474	T	-2.19	0.49352	N	0.359	0.45803	-1.0212	0.23324	T	0.057	0.24018	T	9	0.111819774	0.20953	T	0.043153	0.60838	D	0.206	0.49396	.	.	0.19670166235	0.19296	.	.	0.0859450684059	0.09713	0.458904266357	0.33159	T	.	.	.	-0.320359	0.06868	T	-0.393403	0.34152	T	0.102887866230179	0.12672	T	0.862114	0.57764	D	.	.	.	.	.	.	.	.	-1.617	0.03482	T	.	.	0.097	0.16010	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.608412	0.33872	19.47	0.88658093706104735	0.18151	0.98031	0.79020	D	AEFBI	0.960583	0.98147	D	-0.196164463204247	0.33293	1.887234	0.0710597949212003	0.43101	2.618892	0.997314306916037	0.35488	0.475973	0.10046	0	0.446627	0.06534	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	6.07	4.9	0.63643	6.177000	0.71893	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1296:0.8704	13.589	0.61412	418	0.81602	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1101.33	37	chr2	178595558	.	T	C	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.153;DP=778;ExcessHet=0;FS=0.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.59;SOR=0.573	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1115,0,886	18	0	1	0
chr2	178650756	178650756	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon163:c.C32402G:p.P10801R,TTN:NM_001256850:exon164:c.C35183G:p.P11728R,TTN:NM_001267550:exon209:c.C39704G:p.P13235R	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1461	59	2	0	63	0.0211055	.	.	.	56094	Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Cardiomyopathy|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0027	0.0393371	0.0306	0.0011	0.0060	0.1733	0.0345	0.0093	0.0292	0.0519	0.0160865	2487	154602	rs72650066	0.0092	0.0093	0.0082	0.0102	0.1324	0.0091	0.0090	0.1294	0.1281	0.0010	0.0021	0.0204	0.1324	0.0248	0.0181	0.0019	0.0140	0.0379	0.0096	0.0096	0.0080	0.0112	0.1243	0.0092	0.0090	0.1164	0.1132	0.0013	0.0044	0.0020	0.0196	0.1243	0.0241	0.0068	0.0029	0.0104	0.0377	0.22	0.30515	T	.	.	.	0.01	0.15535	B	0.01	0.14941	B	.	.	.	.	0.999584	0.38299	P	1.935	0.51832	L	-0.03	0.64630	T	-2.03	0.75297	N	0.088	0.14622	-1.0863	0.06173	T	0.001	0.00287	T	8	0.003309399	0.00057	T	.	.	.	0.104	0.29647	.	.	.	.	.	.	0.0905780317128	0.10218	0.281594097614	0.07715	T	.	.	.	-0.518947	0.00446	T	-0.388388	0.34741	T	0.00381521306306221	0.00040	T	0.206579	0.08622	T	.	.	.	.	.	.	.	.	-8.184	0.64469	D	.	.	0.096	0.28807	B	.;.;.;.;.	.;.;.;.;.	2.490476	0.32130	18.95	0.90375552909682755	0.19638	0.34615	0.25109	N	AEFDBI	0.164300	0.29068	N	-0.915212809601297	0.10486	0.5013117	-0.84299206343616	0.13457	0.6981461	0.232525281216098	0.18481	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.91	3.08	0.34576	2.103000	0.41430	.	.	-0.110000	0.15115	0.095000	0.22689	1.000000	0.68203	0.149000	0.20271	0.0:0.1349:0.7247:0.1404	11.644	0.50508	441	0.80015	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.016633	0.005051	0.012228	0.032164	0.050000	0.008772	0.018293	0.022727	0.05263	1173.83	33	chr2	178650756	.	G	C	1173.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.162;DP=692;ExcessHet=0.119;FS=0.726;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.266;SOR=0.706	GT:AD:DP:GQ:PL	0/1:26,20:46:99:500,0,675	17	0	2	0
chr2	178724331	178724331	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon69:c.C17312T:p.A5771V,TTN:NM_001256850:exon70:c.C20093T:p.A6698V,TTN:NM_001267550:exon72:c.C21044T:p.A7015V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1469	50	2	0	54	0.0180481	.	.	.	55845	Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.243	.	0.0026	0.0357428	0.0165	0.0012	0.0025	0.1206	0.0234	0.0040	0.0201	0.0283	0.0150904	2333	154602	rs72648960	0.0081	0.0081	0.0075	0.0088	0.1315	0.0080	0.0080	0.1285	0.1273	0.0011	0.0015	0.0107	0.1315	0.0249	0.0165	0.0016	0.0128	0.0263	0.0089	0.0089	0.0075	0.0104	0.1238	0.0085	0.0084	0.1159	0.1127	0.0017	0.0044	0.0019	0.0109	0.1238	0.0243	0.0034	0.0025	0.0104	0.0257	0.074	0.34621	T	.	.	.	0.096	0.25489	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	-2.43	0.53258	N	0.144	0.19861	-1.1269	0.01936	T	0.002	0.00738	T	9	0.0019120276	0.00026	T	.	.	.	0.243	0.54921	.	.	.	.	.	.	0.103848864121	0.11752	0.359437406063	0.19304	T	.	.	.	-0.453742	0.01073	T	-0.294725	0.45280	T	0.0290006924244436	0.01838	T	0.756924	0.39714	T	.	.	.	.	.	.	.	.	-5.853	0.45033	T	.	.	0.121	0.25265	B	.;.;.;.	.;.;.;.	3.504248	0.49039	22.7	0.96988817785172754	0.31892	0.91942	0.54598	D	AEFBI	0.709002	0.66323	D	0.0698934415565155	0.45062	2.769151	0.266236103342934	0.53580	3.526084	0.999691923627461	0.41870	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	0.757000	0.26098	.	.	0.676000	0.76740	0.946000	0.32893	1.000000	0.68203	0.990000	0.65344	0.0:0.168:0.832:0.0	16.243	0.82250	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014099	0.005051	0.009511	0.029240	0.000000	0.008621	0.012195	0.015152	0.05263	4193.83	35	chr2	178724331	.	G	A	4193.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.324;DP=987;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.611;SOR=0.687	GT:AD:DP:GQ:PL	0/1:95,80:175:99:2040,0,2598	17	0	2	0
chr2	178756545	178756545	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133437:exon44:c.G10418A:p.S3473N,TTN:NM_001267550:exon46:c.G10931A:p.S3644N	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	.	141536	not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Tibial_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.106	.	0.0003	0.0161741	0.0066	0.0001	0.0004	0.0576	0.0227	0.0014	0.0112	0.0027	0.0059637	922	154602	rs78535378	0.0037	0.0037	0.0037	0.0038	0.0861	0.0036	0.0036	0.0837	0.0827	0.0002	0.0002	0.0007	0.0861	0.0247	0.0017	0.0002	0.0035	0.0022	0.0042	0.0043	0.0032	0.0053	0.0622	0.0040	0.0039	0.0566	0.0544	9.621e-05	0	0.0003	0.0012	0.0622	0.0235	0	0.0007	0.0014	0.0025	0.636	0.05061	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.23052	N	.	.	.	-0.5	0.70480	T	0.16	0.05217	N	0.063	0.03502	-1.0805	0.07252	T	0.007	0.02399	T	8	0.0015839636	0.00018	T	.	.	.	0.106	0.30130	.	.	0.444807159249	0.44105	.	.	0.0777257753559	0.08742	.	.	.	.	.	.	-0.617091	0.00115	T	-0.562468	0.16145	T	0.0113518299514934	0.00169	T	0.338366	0.07261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.559225	0.19974	14.53	0.93154339230994887	0.22803	0.22221	0.21673	N	AEFGBI	.	.	.	-0.339329586410404	0.27666	1.519755	-0.250841348771231	0.29742	1.668832	0.999995802299368	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	4.63	0.57175	0.633000	0.24289	.	.	0.599000	0.40250	0.132000	0.23378	0.000000	0.08366	0.856000	0.40543	0.1429:0.6449:0.1382:0.074	5.716	0.17232	341	0.85936	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1959.33	42	chr2	178756545	.	C	T	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.502;DP=899;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.696;SOR=0.665	GT:AD:DP:GQ:PL	0/1:67,72:139:99:1973,0,1857	18	0	1	0
chr2	178802144	178802144	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001256850:exon3:c.G289A:p.V97M,TTN:NM_001267550:exon3:c.G289A:p.V97M,TTN:NM_003319:exon3:c.G289A:p.V97M,TTN:NM_133378:exon3:c.G289A:p.V97M,TTN:NM_133379:exon3:c.G289A:p.V97M,TTN:NM_133432:exon3:c.G289A:p.V97M,TTN:NM_133437:exon3:c.G289A:p.V97M	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	173627	not_specified|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiovascular_phenotype|not_provided|Dilated_cardiomyopathy_1G	MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.623	.	0.0003	0.00119808	0.0021	0.0003	8.637e-05	0	0.0228	0.0014	0.0066	0	0.0017011	263	154602	rs185921345	0.0011	0.0011	0.0011	0.0011	0.0007	0.0010	0.0010	0.0002	0.0001	0.0002	2.236e-05	0.0007	2.519e-05	0.0246	0.0007	0.0002	0.0011	4.638e-05	0.0020	0.0020	0.0013	0.0027	0.0008	0.0018	0.0017	0.0004	0.0004	0.0002	0	0	0.0012	0.0008	0.0234	0	0.0006	0.0009	0	0.004	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.84481	D	.	.	.	.	0.836786	0.42826	D	.	.	.	-1.24	0.78967	T	-1.83	0.53258	N	0.438	0.78641	0.782	0.94191	D	0.683	0.89058	D	9	0.008271962	0.00188	T	.	.	.	0.623	0.85406	.	.	0.762971822872	0.76081	.	.	0.454083579922	0.45095	0.673191070557	0.63292	T	.	.	.	-0.215569	0.18602	T	-0.0879748	0.64313	T	0.0544091394271735	0.06259	T	0.985101	0.95549	D	.	.	.	.	.	.	.	.	-9.74	0.72396	D	.	.	0.878	0.81337	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.367601	0.67210	25.1	0.96433080349155653	0.29799	0.96253	0.68242	D	AEFBI	0.809447	0.73295	D	1.0330374043781	0.96673	14.99194	0.945742052970925	0.97275	15.86066	0.999999999992921	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	6.088000	0.71022	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.9272:0.0:0.0728	13.159	0.58953	365	0.84644	.;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1150.33	33	chr2	178802144	.	C	T	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=765;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.482;SOR=0.498	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1164,0,1389	18	0	1	0
chr2	196274090	196274090	C	T	exonic	HECW2	.	nonsynonymous SNV	HECW2:NM_001304840:exon14:c.G2101A:p.V701I,HECW2:NM_001348768:exon16:c.G3169A:p.V1057I,HECW2:NM_020760:exon16:c.G3169A:p.V1057I	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	743602	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.301	0.0423978529589	.	.	0.0001	0	8.688e-05	0	0	0	0	0.0007	8.41e-05	13	154602	rs375808221	4.447e-05	4.446e-05	2.314e-05	6.601e-05	0.0008	3.575e-05	3.257e-05	0.0006	0.0006	0	0	0	0	0	0	0	0	0.0008	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.019	0.50132	D	0.085	0.41074	T	0.994	0.66517	D	0.97	0.72226	D	0.000215	0.47681	D	0.140583	1	0.81001	D	2.08	0.57402	M	-1.89	0.84557	D	-0.2	0.10136	N	0.358	0.39962	0.274	0.87137	D	0.684	0.89080	D	10	0.13611254	0.25897	T	0.042398	0.60441	D	0.301	0.62179	0.168	0.07302	0.584956310741	0.58168	0.18994431902551312	0.18912	0.769564632785	0.64698	0.564721286297	0.47933	T	0.049329	0.28275	T	-0.182652	0.23342	T	-0.0998975	0.63405	T	0.240822289145108	0.22457	T	0.908809	0.67676	D	0.15459196	0.34981	0.09394721	0.22216	0.15459196	0.34981	0.09394721	0.22216	-5.206	0.39003	T	0.27351752399763946	0.36756	0.077	0.17402	B	.;.;.;.	.;.;.;.	3.568102	0.50241	22.9	0.99771647839279798	0.85918	0.92243	0.55265	D	AEFGBCI	0.667695	0.63573	D	0.66177444646864	0.77132	6.616359	0.66927836602036	0.80053	7.214273	0.999999999999999	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.608075	0.38828	0	0.735409	0.98432	0	.	.	5.45	5.45	0.79688	4.580000	0.60654	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.642	0.88043	870	0.31527	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	873.33	33	chr2	196274090	.	C	T	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=716;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.83;SOR=1.085	GT:AD:DP:GQ:PL	0/1:52,34:86:99:887,0,1358	18	0	1	0
chr2	206663253	206663253	-	CC	exonic	DYTN	.	frameshift insertion	DYTN:NM_001093730:exon11:c.1282_1283insGG:p.E428Gfs*61	.	426	1072	21	3	0	27	0.0124367	.	.	.	576096	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	0.0021	0.00339457	0.0042	0.0003	0.0015	0	0.0009	0.0030	0.0045	0.0167	0.0004226	11	26028	rs534558800	0.0035	0.0035	0.0030	0.0040	0.0180	0.0034	0.0034	0.0173	0.0170	0.0002	0.0010	0.0084	2.519e-05	0.0022	0.0049	0.0026	0.0032	0.0180	0.0024	0.0024	0.0023	0.0024	0.0180	0.0022	0.0021	0.0150	0.0139	0.0006	0	0.0006	0.0052	0	0.0014	0	0.0030	0.0028	0.0180	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.015152	0.02632	2224.29	37	chr2	206663253	.	T	TCC	2224.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.433;DP=861;ExcessHet=0;FS=6.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.598;SOR=1.25	GT:AD:DP:GQ:PL	0/1:84,64:148:99:2238,0,3122	18	0	1	0
chr2	218890259	218890259	A	G	exonic	WNT10A	.	nonsynonymous SNV	WNT10A:NM_025216:exon3:c.A652G:p.M218V	Odontoonychodermal dysplasia, Autosomal recessive;Schopf-Schulz-Passarge syndrome, Autosomal recessive;Tooth agenesis, selective, 4, Autosomal recessive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	284757	Tooth_agenesis,_selective,_4|Odonto-onycho-dermal_dysplasia|not_provided|Inborn_genetic_diseases|SchC6pf-Schulz-Passarge_syndrome	MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Orphanet:99798|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,Orphanet:2721|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,Orphanet:50944	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.126	0.0141032217069	7.7e-05	.	6.765e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs373991357	6.298e-05	6.293e-05	3.951e-05	8.669e-05	0.0006	5.232e-05	4.849e-05	0.0004	0.0004	0	0	0	2.519e-05	0	0.0003	3.417e-05	4.968e-05	0.0006	3.284e-05	3.281e-05	1.285e-05	5.373e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0006	0.932	0.02239	T	0.846	0.03548	T	0.0	0.02946	B	0.002	0.06944	B	0.000069	0.52346	N	0.128612	0.604187	0.30915	N	-2.08	0.00163	N	-0.62	0.71895	T	-0.15	0.09297	N	0.295	0.33360	-0.9444	0.41911	T	0.069	0.28213	T	10	0.053732544	0.05612	T	0.014103	0.33987	T	0.126	0.34673	.	.	0.633945079878	0.63094	0.37590291508837986	0.37504	0.0735930790758	0.08253	0.335866063833	0.15819	T	0.161913	0.50636	T	-0.410972	0.01958	T	-0.463947	0.26170	T	0.00867787473416869	0.00106	T	0.789321	0.42944	T	0.04733538	0.08075	0.0656489	0.13335	0.04733538	0.08074	0.0656489	0.13335	2.987	0.00021	T	0.08899138239684137	0.05393	0.036	0.00006	B	.	.	1.986193	0.25231	16.69	0.43360318253045371	0.03259	0.22142	0.21646	N	AEFBI	0.066839	0.13110	N	-0.848685919378769	0.12082	0.5868043	-0.548879251386358	0.20836	1.124404	0.999984588337406	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.46	3.57	0.40014	3.376000	0.52148	7.578000	0.60885	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.092:0.0:0.908:0.0	11.137	0.47604	777	0.48198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1467.33	36	chr2	218890259	.	A	G	1467.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.634;DP=745;ExcessHet=0;FS=1.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.186;SOR=0.944	GT:AD:DP:GQ:PL	0/1:45,58:103:99:1481,0,1276	18	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,95:95:99:1|1:232847516_CACA_C:4152,286,0:232847516	6	3	10	0
chr2	237371833	237371833	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon6:c.G2363A:p.R788Q,COL6A3:NM_057164:exon7:c.G2963A:p.R988Q,COL6A3:NM_057165:exon8:c.G3566A:p.R1189Q,COL6A3:NM_057167:exon8:c.G3566A:p.R1189Q,COL6A3:NM_004369:exon9:c.G4184A:p.R1395Q	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	100829	Bethlem_myopathy_1A|Dystonia_27|Ullrich_congenital_muscular_dystrophy_1A|not_provided|Collagen_6-related_myopathy|not_specified	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0014627,MedGen:C4225336,OMIM:616411,Orphanet:464440|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:C3661900|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.256	.	0.0005	0.0181709	0.0092	0.0004	0.0273	0.0745	0.0056	0.0011	0.0055	0.0022	0.0083763	1295	154602	rs80272723	0.0036	0.0036	0.0037	0.0035	0.0757	0.0035	0.0035	0.0735	0.0726	0.0004	0.0223	0.0002	0.0757	0.0071	0.0016	0.0003	0.0041	0.0024	0.0044	0.0044	0.0039	0.0049	0.0779	0.0041	0.0040	0.0716	0.0692	0.0006	0	0.0081	0	0.0779	0.0052	0	0.0006	0.0019	0.0042	0.363	0.18184	T	0.672	0.33000	T	0.933	0.52105	P	0.341	0.42432	B	0.002747	0.36001	N	0.119023	0.976172	0.39253	D	0.455	0.12820	N	-1.65	0.82625	D	-0.57	0.17834	N	0.215	0.26475	-0.8600	0.51263	T	0.025	0.10464	T	10	0.0020683706	0.00029	T	.	.	.	0.256	0.56694	.	.	0.844122399407	0.84262	0.327226935328165	0.32635	0.494085474366	0.47983	0.265912353992	0.05615	T	0.147401	0.48546	T	-0.409031	0.02017	T	-0.302795	0.44429	T	0.0173847819792866	0.00476	T	0.891911	0.62748	D	0.080497004	0.18448	0.03938273	0.04017	0.08278213	0.19085	0.039549347	0.04072	-5.137	0.42232	T	0.07706686783883282	0.03577	0.084	0.18331	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.193687	0.27969	17.64	0.98657143777394474	0.44275	0.57514	0.30396	D	AEFDBI	0.251373	0.37125	N	-0.327679387743932	0.28101	1.547169	-0.203961634891066	0.31394	1.776257	0.999768398395006	0.42728	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.64	4.77	0.60425	0.596000	0.23744	2.156000	0.30947	-0.187000	0.09635	0.874000	0.30870	1.000000	0.68203	0.844000	0.39860	0.0:0.7979:0.0:0.2021	9.481	0.38067	940	0.13648	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1149.33	35	chr2	237371833	.	C	T	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=749;ExcessHet=0;FS=6.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.408;SOR=1.417	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1163,0,1323	18	0	1	0
chr2	240046030	240046030	C	T	exonic	OR6B3	.	nonsynonymous SNV	OR6B3:NM_173351:exon1:c.G43A:p.V15M	.	415	1105	2	0	0	2	0.000904159	.	.	.	3367355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00342251321051	0.0002	0.000599042	0.0005	0	0	0	0.0005	0.0006	0	0.0008	0.0004657	72	154602	rs200327452	0.0004	0.0004	0.0004	0.0004	0.0013	0.0004	0.0004	0.0011	0.0010	5.976e-05	0.0002	0.0039	0	0.0004	0.0003	0.0003	0.0008	0.0013	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	4.815e-05	0	6.537e-05	0.0046	0.0002	9.427e-05	0	0.0002	0.0005	0.0012	0.064	0.36509	T	0.062	0.45318	T	0.236	0.30770	B	0.081	0.28987	B	0.765398	0.09589	U	0.825249	1	0.08975	N	0.93	0.23535	L	5.32	0.01079	T	-0.4	0.13805	N	0.04	0.01347	-0.9392	0.42743	T	0.005	0.01578	T	10	0.00798592	0.00181	T	0.003423	0.07694	T	0.066	0.19193	.	.	0.0846915920261	0.08053	0.05659280976282616	0.05600	0.812701319876	0.66811	0.230189681053	0.01982	T	0.006514	0.05941	T	-0.69024	0.00042	T	-0.788886	0.02195	T	0.0273453657955827	0.01593	T	0.718228	0.33111	T	0.039347447	0.05414	0.08618407	0.19951	0.039347447	0.05414	0.08618407	0.19950	-4.471	0.30507	T	.	.	0.147	0.32469	B	.;.	.;.	1.052163	0.14333	10.91	0.93918300916545416	0.23958	0.07212	0.13237	N	AEFDGBI	0.082022	0.16603	N	-0.995352723524068	0.08703	0.4090556	-1.01536503288813	0.09447	0.4700561	0.00165441506172001	0.08750	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.03	-1.46	0.08338	-1.536000	0.02312	-20.000000	0.00162	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.520000	0.29475	0.0:0.172:0.828:0.0	19.626	0.95672	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	.	.	.	.	.	.	.	.	0.02632	2007.33	34	chr2	240046030	.	C	T	2007.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.636;DP=1222;ExcessHet=0;FS=4.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.87;MQRankSum=-0.273;QD=15.44;ReadPosRankSum=0.787;SOR=1.119	GT:AD:DP:GQ:PL	0/1:60,70:130:99:2021,0,1517	18	0	1	0
chr2	241653596	241653596	G	A	exonic	ATG4B	.	nonsynonymous SNV	ATG4B:NM_013325:exon4:c.G269A:p.R90Q,ATG4B:NM_178326:exon4:c.G269A:p.R90Q	.	428	1066	27	1	0	29	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0074	0.00379393	0.0133	0.0019	0.0151	0	0.0038	0.0217	0.0203	0.0059	0.0054721	846	154602	rs143448469	0.0084	0.0084	0.0086	0.0082	0.0115	0.0083	0.0083	0.0094	0.0093	0.0012	0.0061	0.0085	0	0.0019	0.0115	0.0095	0.0081	0.0058	0.0063	0.0063	0.0069	0.0056	0.0101	0.0060	0.0058	0.0095	0.0092	0.0020	0	0.0059	0.0089	0.0002	0.0014	0.0170	0.0101	0.0085	0.0052	0.161	0.31834	T	0.322	0.20100	T	0.556	0.38244	P	0.091	0.30945	B	0.000000	0.84330	D	0.047151	1	0.81001	D	2.23	0.63091	M	0.95	0.43279	T	-1.7	0.50992	N	0.368	0.42149	-1.0923	0.05159	T	0.069	0.28379	T	10	0.011255324	0.00247	T	.	.	.	0.139	0.37390	.	.	0.481781477641	0.47810	0.6773881101384202	0.67677	0.531207737867	0.50628	0.730025172234	0.71509	T	0.192883	0.54817	T	-0.431599	0.01450	T	-0.383344	0.35330	T	0.0161125259673247	0.00388	T	0.90111	0.76517	D	0.22813143	0.45527	0.14164001	0.33723	0.22813143	0.45527	0.14164001	0.33722	-10.691	0.78884	D	.	.	0.102	0.30291	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.449558	0.48029	22.5	0.99368769700867821	0.61326	0.86693	0.46028	D	AEFDGBHCI	0.595943	0.59030	D	-0.0734414435126395	0.38560	2.260309	0.0329078568499295	0.41254	2.475339	0.999999999999996	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	4.72	0.59248	3.977000	0.56581	6.481000	0.55737	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0767:0.0:0.9233:0.0	13.453	0.60636	976	0.04745	.;.;.;.;.;.;.;.	GAL3ST2|AC114730.3	Adipose_Subcutaneous|Artery_Aorta	D2HGDH	Nerve_Tibial	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007107	0.005208	0.009537	0.005882	0.000000	0.000000	0.009317	0.007634	0.07895	3393.79	36	chr2	241653596	.	G	A	3393.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.472;DP=820;ExcessHet=0.3672;FS=1.555;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.21;SOR=0.801	GT:AD:DP:GQ:PL	0/1:29,27:56:99:843,0,799	16	0	3	0
chr3	9818851	9818851	G	A	exonic	TTLL3	.	nonsynonymous SNV	TTLL3:NM_001025930:exon6:c.G889A:p.V297I,TTLL3:NM_001366051:exon6:c.G460A:p.V154I	.	421	1099	2	0	0	2	0.000909091	.	.	.	3935849	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0310225235443	0.0002	0.000199681	3.312e-05	0	0	0	0	5.993e-05	0	0	5.17e-05	8	154602	rs374967773	4.583e-05	4.583e-05	5.581e-05	3.575e-05	0.0002	3.661e-05	3.347e-05	4.351e-05	3.944e-05	2.987e-05	0	0	0	0	0.0002	5.486e-05	4.967e-05	1.159e-05	4.597e-05	4.593e-05	3.855e-05	5.372e-05	0.0001	2.108e-05	1.526e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	1.0	0.07545	T	0.671	0.11443	T	.	.	.	.	.	.	0.067317	0.21750	U	0.359453	1	0.81001	D	.	.	.	1.16	0.38073	T	0.04	0.07155	N	0.153	0.15749	-1.0473	0.15159	T	0.034	0.14464	T	9	0.03063941	0.01191	T	0.031023	0.53207	D	0.050	0.13987	.	.	0.149567049428	0.14543	0.11379244015927799	0.11307	0.0964755797854	0.10890	0.497183531523	0.38436	T	.	.	.	-0.357853	0.04253	T	-0.554164	0.16929	T	0.144250566096565	0.16636	T	0.806819	0.46699	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.24901	B	.;.;.;.	.;.;.;.	3.312661	0.45526	22.1	0.8720493464940009	0.17062	0.75754	0.37107	D	AEFDGBCI	0.289024	0.40077	N	-0.169515961324761	0.34408	1.963568	0.0149970021947869	0.40409	2.411214	0.998624921623848	0.37330	0.706548	0.73137	0	0.643519	0.57511	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	2.815000	0.47717	6.610000	0.56085	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0862:0.2148:0.6991:0.0	8.056	0.29765	481	0.77356	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1369.33	37	chr3	9818851	.	G	A	1369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.01;DP=761;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.048;SOR=0.681	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1383,0,1269	18	0	1	0
chr3	12817705	12817705	G	A	exonic	CAND2	.	nonsynonymous SNV	CAND2:NM_012298:exon8:c.G2494A:p.A832T,CAND2:NM_001162499:exon10:c.G2773A:p.A925T	.	.	.	.	.	.	.	.	.	.	.	2726671	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0375546645316	.	.	2.646e-05	0	0	0	0	4.65e-05	0	0	1.94e-05	3	154602	rs774791381	1.87e-05	2.668e-05	2.2e-05	1.535e-05	3.027e-05	1.281e-05	1.098e-05	1.389e-05	1.16e-05	3.027e-05	0	4.051e-05	0	1.91e-05	0	2.085e-05	1.681e-05	0	1.313e-05	1.313e-05	2.568e-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	0.119	0.32141	T	0.289	0.21078	T	1.0	0.90584	D	0.992	0.80445	D	0.115825	0.19218	N	0.547106	0.632991	0.31258	N	1.745	0.45235	L	-0.2	0.66113	T	-1.6	0.38540	N	0.113	0.10056	-0.6923	0.60801	T	0.285	0.65734	T	10	0.11951935	0.22620	T	0.037555	0.57689	D	0.086	0.25016	0.217	0.13788	0.757704877949	0.75550	0.1280928331873558	0.12734	0.172383796929	0.19416	0.536725819111	0.43984	T	0.010335	0.09344	T	-0.179496	0.23811	T	-0.49561	0.22805	T	0.260822236537933	0.23350	T	0.823718	0.48487	T	0.070553094	0.15551	0.08143518	0.18506	0.070553094	0.15550	0.08143518	0.18506	-5.689	0.43596	T	.	.	0.085	0.14201	B	.;.	.;.	2.423873	0.31176	18.66	0.99895444036361492	0.96819	0.89861	0.50605	D	AEFDBI	0.237732	0.35997	N	0.111983478148435	0.47022	2.933755	0.186267654270288	0.49095	3.116822	0.999438337562011	0.39683	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.491896	0.07777	0	.	.	4.74	4.74	0.59717	1.131000	0.31019	4.021000	0.41251	0.676000	0.76740	0.608000	0.27813	1.000000	0.68203	0.930000	0.46718	0.0:0.1821:0.8179:0.0	11.483	0.49587	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	.	.	.	.	.	.	.	.	0.02632	2205.33	40	chr3	12817705	.	G	A	2205.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.235;DP=835;ExcessHet=0;FS=2.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.251;SOR=0.884	GT:AD:DP:GQ:PL	0/1:62,85:147:99:2219,0,1474	18	0	1	0
chr3	15451673	15451673	C	T	exonic	COLQ	.	nonsynonymous SNV	COLQ:NM_080539:exon16:c.G1237A:p.D413N,COLQ:NM_005677:exon17:c.G1339A:p.D447N,COLQ:NM_080538:exon17:c.G1309A:p.D437N	Myasthenic syndrome, congenital, 5, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	YES	631002	Congenital_myasthenic_syndrome_5|Inborn_genetic_diseases	MONDO:MONDO:0011281,MedGen:C1864233,OMIM:603034,Orphanet:590|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.783	0.613245393386	.	.	1.648e-05	0	8.639e-05	0.0001	0	0	0	0	1.29e-05	2	154602	rs770753693	1.368e-05	1.368e-05	1.633e-05	1.1e-05	0.0001	8.94e-06	7.26e-06	4.907e-05	3.165e-05	0	6.708e-05	0	0.0001	0	0	6.295e-06	3.312e-05	3.478e-05	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.92359	D	0.000000	0.84330	D	0.046027	1	0.81001	D	2.34	0.67151	M	-3.42	0.94348	D	-2.52	0.60507	D	0.691	0.90476	1.012	0.97389	D	0.908	0.96949	D	10	0.83328635	0.82488	D	0.613245	0.96630	D	0.783	0.92787	.	.	0.982093447026	0.98190	0.7548930069117097	0.75436	0.0949871506179	0.10726	0.73571228981	0.72342	T	0.50555	0.82414	D	-0.0501656	0.44421	T	-0.0176871	0.69181	D	0.386661409556021	0.28437	T	0.934707	0.75876	D	0.62252843	0.73899	0.5722859	0.75229	0.62252843	0.73900	0.5722859	0.75229	-7.024	0.54209	T	0.6396002771396248	0.71011	0.223	0.47632	B	.;.;.;.	.;.;.;.	5.426590	0.90767	31	0.99888928951962375	0.96359	0.98669	0.85367	D	AEFI	0.879865	0.80610	D	0.828683388508142	0.87864	9.367681	0.806621333846898	0.90248	10.322	0.999999999998764	0.74766	0.614807	0.35715	0	0.588066	0.40923	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	7.442000	0.79626	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.361	0.94428	527	0.73864	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1143.33	34	chr3	15451673	.	C	T	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.772;DP=702;ExcessHet=0;FS=1.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.33;SOR=0.468	GT:AD:DP:GQ:PL	0/1:37,46:83:99:1157,0,957	18	0	1	0
chr3	16227466	16227466	G	A	exonic	GALNT15	.	nonsynonymous SNV	GALNT15:NM_001319052:exon5:c.G476A:p.R159H,GALNT15:NM_054110:exon10:c.G1886A:p.R629H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00619977307506	.	.	3.296e-05	9.612e-05	8.657e-05	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs756197962	1.026e-05	1.026e-05	5.445e-06	1.513e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	5.974e-05	2.236e-05	0	0	0	0.0003	8.094e-06	0	1.159e-05	1.314e-05	1.313e-05	2.57e-05	0	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.244	0.17468	T	0.625	0.07316	T	0.004	0.12183	B	0.001	0.04355	B	0.828632	0.09123	N	0.922020	0.998355	0.29366	N	0.92	0.23413	L	1.53	0.30401	T	-0.69	0.19720	N	0.065	0.03726	-0.9519	0.40643	T	0.110	0.39604	T	10	0.041873336	0.02883	T	0.006	0.16259	T	0.021	0.04004	.	.	0.0920862733494	0.08535	0.16483035889546718	0.16403	0.0442287248236	0.04768	0.222121089697	0.01436	T	0.015787	0.13173	T	-0.383619	0.02956	T	-0.607291	0.12205	T	0.0409140959382057	0.03856	T	0.658834	0.26791	T	0.09096778	0.21301	0.07500923	0.16470	0.09096778	0.21301	0.07500923	0.16470	-4.702	0.33428	T	.	.	0.057	0.00533	B	.	.	-0.303947	0.02601	0.322	0.76446029193459586	0.11471	0.03425	0.08555	N	AEFI	0.085101	0.17251	N	-0.711117712967965	0.15709	0.7940276	-0.800127640681174	0.14492	0.7574852	0.00270084125270477	0.09639	0.623552	0.39893	0	0.547309	0.14657	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.4	0.574	0.16553	-0.546000	0.06152	-1.801000	0.04701	-0.113000	0.14837	0.004000	0.16614	0.000000	0.08366	0.099000	0.18236	0.4212:0.0:0.5788:0.0	7.947	0.29154	872	0.31118	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1107.33	37	chr3	16227466	.	G	A	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.91;DP=774;ExcessHet=0;FS=7.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=2.08;SOR=0.702	GT:AD:DP:GQ:PL	0/1:31,41:72:99:1121,0,700	18	0	1	0
chr3	30671754	30671754	G	A	exonic	TGFBR2	.	nonsynonymous SNV	TGFBR2:NM_003242:exon4:c.G571A:p.V191I,TGFBR2:NM_001024847:exon5:c.G646A:p.V216I	Colorectal cancer, hereditary nonpolyposis, type 6;Esophageal cancer, somatic;Loeys-Dietz syndrome 2, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	141338	Loeys-Dietz_syndrome|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|Loeys-Dietz_syndrome_2|Colorectal_cancer,_hereditary_nonpolyposis,_type_6|Malignant_tumor_of_esophagus|not_specified	MONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192,Orphanet:60030|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MONDO:MONDO:0012427,MedGen:C2674574,OMIM:610168,Orphanet:558|MONDO:MONDO:0013695,MedGen:C1860896,OMIM:614331,Orphanet:144|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239,Orphanet:99977|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	.	0.00399361	0.0016	0.0003	0.0003	0.0187	0	3e-05	0	0.0015	0.0014359	222	154602	rs56105708	0.0005	0.0005	0.0005	0.0006	0.0130	0.0005	0.0005	0.0121	0.0118	0.0001	8.944e-05	0.0003	0.0130	3.744e-05	0.0003	2.338e-05	0.0009	0.0017	0.0007	0.0007	0.0005	0.0009	0.0170	0.0006	0.0005	0.0141	0.0131	7.215e-05	0	6.536e-05	0	0.0170	0	0	1.47e-05	0	0.0023	0.454	0.12305	T	0.38	0.15988	T	0.001	0.07471	B	0.001	0.04355	B	0.013132	0.28942	N	0.392978	0.999998	0.08975	N	1.1	0.28011	L	-0.1	0.64264	T	-0.33	0.12472	N	0.06	0.05162	-1.0490	0.14677	T	0.073	0.29707	T	10	0.003921181	0.00075	T	.	.	.	0.044	0.11924	.	.	0.185906805712	0.18197	0.22926216477411798	0.22841	0.428904230715	0.43201	0.347205489874	0.17511	T	0.325929	0.69659	T	-0.525775	0.00407	T	-0.51308	0.20999	T	0.0120333356674731	0.00190	T	0.860314	0.55333	D	0.039510984	0.05469	0.03974742	0.04138	0.034988083	0.04031	0.040069323	0.04246	-3.595	0.17785	T	0.15669441868854578	0.18870	0.074	0.06341	B	.;.	.;.	2.766702	0.36307	20.2	0.96686468180010476	0.30719	0.66433	0.33076	D	AEFDBHCI	0.254604	0.37389	N	-0.457207383341804	0.23497	1.262205	-0.335011477060621	0.26977	1.493762	0.999998626796156	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.28	4.4	0.52402	2.222000	0.42568	5.235000	0.48044	0.674000	0.70861	0.981000	0.35396	1.000000	0.68203	0.422000	0.27272	0.2181:0.0:0.7819:0.0	8.881	0.34533	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1330.33	38	chr3	30671754	.	G	A	1330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.69;DP=765;ExcessHet=0;FS=5.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=1.19;SOR=1.258	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1344,0,1275	18	0	1	0
chr3	31533134	31533134	G	A	exonic	STT3B	.	nonsynonymous SNV	STT3B:NM_178862:exon1:c.G136A:p.G46S	.	415	1106	1	0	0	1	0.000451875	.	.	.	691371	STT3B-congenital_disorder_of_glycosylation	MONDO:MONDO:0014271,MedGen:C2931007,OMIM:615597,Orphanet:370924	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.093	.	.	0.00299521	0.0031	0	0	0.0424	0	0	0	0.0021	0.0004851	75	154602	rs527396203	0.0002	0.0003	0.0002	0.0002	0.0067	0.0002	0.0002	0.0059	0.0056	0	0	0	0.0067	0	0	1.67e-05	0.0006	0.0013	0.0004	0.0004	0.0004	0.0004	0.0106	0.0003	0.0003	0.0084	0.0076	0	0	6.573e-05	0	0.0106	0	0	2.953e-05	0	0.0008	0.446	0.09101	T	0.401	0.14961	T	0.84	0.46486	P	0.495	0.47504	P	.	.	.	.	0.884867	0.35827	D	0.805	0.20218	L	.	.	.	-0.06	0.07882	N	0.186	0.20262	-0.9886	0.32953	T	0.111	0.39841	T	8	0.0049657524	0.00106	T	.	.	.	0.093	0.26882	0.115	0.02372	0.221890330934	0.21812	0.48282286541460606	0.48202	0.842956260801	0.68156	0.896368026733	0.96027	D	0.081938	0.36712	T	-0.425162	0.01587	T	-0.373104	0.36526	T	0.142977323729141	0.16528	T	0.513749	0.16498	T	0.1301855	0.30385	0.2523996	0.50868	0.1301855	0.30384	0.2523996	0.50867	-4.16	0.26170	T	.	.	0.097	0.15921	B	.	.	2.556910	0.33103	19.24	0.98783640850043097	0.46175	0.74580	0.36487	D	ALL	0.247123	0.36776	N	-0.0746622136045438	0.38507	2.256334	-0.0260698863087299	0.38542	2.272179	0.999999999999981	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	3.47	3.47	0.38831	1.913000	0.39587	.	.	0.494000	0.22454	1.000000	0.71638	.	.	0.994000	0.71098	0.0:0.0:1.0:0.0	14.227	0.65410	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	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	0.000543	0.000000	0.001433	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	714.33	14	chr3	31533134	.	G	A	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.871;DP=403;ExcessHet=0;FS=1.5;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.01;ReadPosRankSum=-0.681;SOR=0.627	GT:AD:DP:GQ:PL	0/1:10,24:34:99:728,0,211	18	0	1	0
chr3	38126510	38126510	C	T	exonic	ACAA1	.	nonsynonymous SNV	ACAA1:NM_001130410:exon7:c.G718A:p.G240R,ACAA1:NM_001607:exon8:c.G817A:p.G273R	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.915	0.311249327291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-3.25	0.96243	D	-7.23	0.95131	D	0.969	0.97961	1.038	0.97869	D	0.913	0.97106	D	10	0.9718852	0.96815	D	0.311249	0.91192	D	0.967	0.99571	0.919	0.98532	0.9658348867	0.96546	0.96655591358103	0.96643	1.23110400944	0.81337	0.783590376377	0.79470	T	0.866347	0.97076	D	0.529293	0.95157	D	0.522516	0.95085	D	0.990754663944244	0.80985	D	0.989912	0.96822	D	0.9821175	0.99268	0.96789396	0.99370	0.9821175	0.99268	0.96789396	0.99371	-11.884	0.84281	D	.	.	0.975	0.90188	P	.;.;.	.;.;.	7.107172	0.96149	35	0.9992506800356612	0.99042	0.94701	0.62033	D	AEFDBCI	0.973003	0.99465	D	0.930941201293935	0.93192	11.87919	0.867294275545993	0.93986	12.42063	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	5.981000	0.70207	4.707000	0.44438	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.063	0.93081	553	0.71930	Thiolase, N-terminal;.;Thiolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	923.33	33	chr3	38126510	.	C	T	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.802;DP=726;ExcessHet=0;FS=10.564;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.175;SOR=0.464	GT:AD:DP:GQ:PL	0/1:32,37:69:99:937,0,862	18	0	1	0
chr3	42699048	42699048	G	A	exonic	HHATL	.	nonsynonymous SNV	HHATL:NM_020707:exon4:c.C272T:p.T91M	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0499675344458	.	0.000599042	0.0001	0	0	0.0015	0	0	0.0022	0.0001	0.0001358	21	154602	rs61739734	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	9.767e-05	0.0016	0.0014	5.974e-05	0	3.826e-05	0.0019	0	0.0009	5.306e-05	0.0002	0.0002	0.0001	0.0001	5.138e-05	0.0002	0.0021	8.162e-05	6.719e-05	0.0012	0.0009	0	0	0	0	0.0021	0	0	8.82e-05	0	0.0004	0.004	0.65419	D	0.003	0.76473	D	0.952	0.54136	P	0.186	0.36104	B	0.003784	0.34487	N	0.316615	0.99999	0.58761	D	1.445	0.36358	L	2.21	0.86549	T	-1.46	0.57110	N	0.461	0.49874	-0.1585	0.78708	T	0.434	0.77504	T	10	0.0418863	0.02885	T	0.049968	0.64040	D	0.181	0.45247	.	.	0.796913402319	0.79502	0.48007255572469754	0.47927	0.519238787512	0.49752	0.582083106041	0.50378	T	0.03829	0.27785	T	-0.242647	0.15013	T	-0.145949	0.59600	T	0.113800369394138	0.13813	T	0.955704	0.86510	D	0.09492799	0.22329	0.15150467	0.35685	0.09492799	0.22329	0.15150467	0.35684	-5.363	0.40562	T	.	.	0.139	0.45470	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.882078	0.56424	23.7	0.99779879063723986	0.86693	0.90880	0.52436	D	AEFDBHCI	0.941570	0.94501	D	0.312585275534194	0.56793	3.844772	0.399264288477608	0.61520	4.353191	0.999999999985017	0.74766	0.554377	0.28877	0	0.578056	0.33634	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.1	5.1	0.68917	9.886000	0.98550	8.433000	0.77176	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.0:1.0:0.0	18.528	0.90933	406	0.82375	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1915.33	44	chr3	42699048	.	G	A	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=766;ExcessHet=0;FS=3.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.027;SOR=0.466	GT:AD:DP:GQ:PL	0/1:62,72:134:99:1929,0,1544	18	0	1	0
chr3	42914407	42914407	T	G	exonic	ZNF662	.	nonsynonymous SNV	ZNF662:NM_001134656:exon4:c.T412G:p.S138A,ZNF662:NM_207404:exon5:c.T334G:p.S112A	.	425	1090	7	0	0	7	0.00320073	.	.	.	2827308	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.00765343810189	0.0018	0.000599042	0.0019	0.0005	0.0013	0	0.0014	0.0021	0.0011	0.0039	0.0020569	318	154602	rs149596515	0.0025	0.0025	0.0025	0.0026	0.0029	0.0025	0.0024	0.0028	0.0027	0.0003	0.0014	0.0003	0	0.0007	0.0024	0.0029	0.0025	0.0029	0.0019	0.0020	0.0020	0.0019	0.0034	0.0018	0.0017	0.0030	0.0029	0.0004	0	0.0016	0.0003	0	0.0002	0.0068	0.0034	0.0033	0.0027	0.231	0.18246	T	0.714	0.07220	T	0.231	0.30614	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	0.64	0.52867	T	-0.74	0.20791	N	0.149	0.21319	-1.0341	0.19141	T	0.075	0.30055	T	9	0.004776776	0.00101	T	0.007653	0.20299	T	0.018	0.03083	.	.	0.529161192476	0.52563	0.05169968579732348	0.05111	0.0510955764814	0.05625	0.365413248539	0.20171	T	0.00831	0.07636	T	-0.518119	0.00451	T	-0.518174	0.20480	T	0.00766812092723879	0.00089	T	0.492351	0.15167	T	0.05923834	0.12014	0.03759628	0.03447	0.05923834	0.12014	0.03759628	0.03447	-4.721	0.33657	T	.	.	0.102	0.17995	B	.;.	.;.	1.027465	0.14072	10.64	0.69761514520715495	0.09076	0.00415	0.02058	N	AEFBCI	0.089980	0.18236	N	-0.83406891995665	0.12446	0.6066866	-0.889067855517039	0.12352	0.6348957	0.999702336949515	0.41986	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	2.93	1.76	0.23776	0.002000	0.12962	-0.036000	0.12731	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.673000	0.33338	0.2365:0.1374:0.0:0.626	2.456	0.04253	628	0.65206	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1160.33	34	chr3	42914407	.	T	G	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-1.336;SOR=0.737	GT:AD:DP:GQ:PL	0/1:33,40:73:99:1174,0,871	18	0	1	0
chr3	49110787	49110787	C	A	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001351102:exon23:c.G3274T:p.V1092L,USP19:NM_001351103:exon23:c.G3319T:p.V1107L,USP19:NM_001351104:exon23:c.G3325T:p.V1109L,USP19:NM_001351106:exon23:c.G3319T:p.V1107L,USP19:NM_001351108:exon23:c.G3280T:p.V1094L,USP19:NM_006677:exon23:c.G3313T:p.V1105L,USP19:NM_001199160:exon24:c.G3616T:p.V1206L,USP19:NM_001199161:exon24:c.G3622T:p.V1208L,USP19:NM_001199162:exon24:c.G3586T:p.V1196L,USP19:NM_001351098:exon24:c.G3583T:p.V1195L,USP19:NM_001351099:exon24:c.G3613T:p.V1205L,USP19:NM_001351100:exon24:c.G3619T:p.V1207L,USP19:NM_001351101:exon24:c.G3622T:p.V1208L,USP19:NM_001351105:exon24:c.G3466T:p.V1156L,USP19:NM_001351107:exon24:c.G3577T:p.V1193L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00724607402375	.	.	.	.	.	.	.	.	.	.	.	.	.	rs563967011	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.49613	D	0.018	0.59732	D	0.663	0.40973	P	0.252	0.39069	B	0.000001	0.62929	D	0.097664	0.991783	0.41474	D	0.63	0.15941	N	1.8	0.25344	T	-1.61	0.38734	N	0.543	0.59986	-1.1253	0.02021	T	0.029	0.12541	T	10	0.47426373	0.60048	T	0.007246	0.19225	T	0.191	0.46948	0.763	0.89133	0.134007934775	0.12933	0.27834612520134283	0.27747	0.583846362237	0.54080	0.753840625286	0.75013	T	0.025523	0.27918	T	-0.146684	0.28831	T	-0.365612	0.37401	T	0.712140619754791	0.41305	D	0.854015	0.53996	D	0.13864501	0.32058	0.1188575	0.28690	0.13864501	0.32058	0.1188575	0.28689	-5.603	0.42820	T	.	.	0.559	0.71237	A	.;.;.;.;.;.	.;.;.;.;.;.	4.227207	0.63986	24.6	0.99612586620465349	0.74932	0.98909	0.88484	D	AEFDBI	0.717972	0.66931	D	0.179400202425321	0.50212	3.213285	0.32831445401124	0.57210	3.885917	0.999985924109549	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.65	0.57626	4.998000	0.63670	5.929000	0.51288	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.6578:0.0:0.3422	3.665	0.07790	0	0.99858	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.;.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1530.33	36	chr3	49110787	.	C	A	1530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=773;ExcessHet=0;FS=1.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.405;SOR=0.839	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1544,0,1775	18	0	1	0
chr3	50289298	50289298	C	T	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon8:c.G842A:p.G281D	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.223879235158	0.0004	0.000599042	0.0010	0.0005	0.0041	0	0.0005	0.0013	0	0.0003	0.000401	62	154602	rs200964278	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	0.0001	0.0010	0	0	9.605e-05	0.0005	0.0006	0.0007	0.0005	0.0004	0.0004	0.0005	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	0.0005	0	0	0	0	0.0006	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	-0.12	0.64630	T	-6.63	0.92173	D	0.935	0.94077	0.136	0.84808	D	0.508	0.81493	D	10	0.34879106	0.51786	T	0.223879	0.87923	D	0.771	0.92294	.	.	0.913650058545	0.91278	0.8627013955263363	0.86234	.	.	0.782371461391	0.79285	T	0.568111	0.85655	D	0.082294	0.62308	D	0.266172	0.86386	D	0.277674555778503	0.24073	T	0.954105	0.82551	D	0.93165517	0.94402	0.9243303	0.96701	0.93165517	0.94403	0.9243303	0.96702	-15.485	0.96885	D	.	.	0.993	0.94691	P	.;.	.;.	5.002361	0.83007	27.9	0.99829716794358681	0.91198	0.97108	0.72736	D	AEFBCI	0.785544	0.71589	D	0.85114359018627	0.89174	9.864012	0.78670130163603	0.88852	9.741135	0.999999979394153	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	5.360000	0.65839	5.942000	0.51497	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.762000	0.36218	0.0:1.0:0.0:0.0	16.942	0.86090	3	0.99430	Interferon-related developmental regulator, N-terminal;Interferon-related developmental regulator, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.02632	1168.33	35	chr3	50289298	.	C	T	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.605;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.153;SOR=0.705	GT:AD:DP:GQ:PL	0/1:63,45:108:99:1182,0,1658	18	0	1	0
chr3	52442890	52442890	G	A	exonic	SEMA3G	.	nonsynonymous SNV	SEMA3G:NM_020163:exon2:c.C133T:p.R45C	.	417	1101	4	0	0	4	0.00181324	.	.	.	3601943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.325	0.0927602468743	.	.	3.31e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs756251735	1.173e-05	1.163e-05	8.227e-06	1.528e-05	8.317e-05	7.15e-06	5.84e-06	3.849e-05	2.715e-05	0	0	0	0	0	0	8.138e-06	1.672e-05	8.317e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0	0	0	0	0	0.0002	0.035	0.65419	D	0.047	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.002924	0.35704	N	0.216523	0.999955	0.52396	D	2.595	0.75868	M	1.87	0.24085	T	-3.17	0.69835	D	0.823	0.81857	-0.8439	0.52386	T	0.162	0.49847	T	10	0.42082208	0.56851	T	0.09276	0.75949	D	0.325	0.64725	0.536	0.64585	0.543561272632	0.54008	0.8509915681883926	0.85061	0.883893223361	0.69880	0.651868581772	0.60250	T	0.068859	0.38977	T	0.11472	0.65838	D	-0.0729895	0.65412	T	0.941725134849548	0.61524	D	0.929807	0.77081	D	0.14281641	0.32851	0.17369232	0.39713	0.14281641	0.32850	0.17369232	0.39712	-8.947	0.67355	D	.	.	0.232	0.56863	B	.;.	.;.	6.181853	0.94741	34	0.99910473049066417	0.98022	0.85633	0.44787	D	AEFDBI	0.421174	0.48770	N	0.533420862692859	0.69081	5.306349	0.450257162285572	0.64732	4.735429	0.999994282421895	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.528226	0.09195	0	.	.	4.93	4.06	0.46572	3.289000	0.51454	9.888000	0.82251	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0878:0.0:0.9122:0.0	11.078	0.47259	68	0.97118	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	.	.	.	.	.	.	.	.	0.02632	1309.33	35	chr3	52442890	.	G	A	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.644;DP=795;ExcessHet=0;FS=1.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=1.15;SOR=0.5	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1323,0,995	18	0	1	0
chr3	54918601	54918601	A	-	exonic	LRTM1	.	frameshift deletion	LRTM1:NM_001304389:exon3:c.668delT:p.V223Gfs*4,LRTM1:NM_020678:exon3:c.896delT:p.V299Gfs*4	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0005	9.615e-05	0.0004	0	0.0002	0.0007	0	0.0008	0.0005239	81	154602	rs750192575	0.0010	0.0010	0.0010	0.0010	0.0014	0.0009	0.0009	0.0012	0.0012	0.0001	0.0003	0.0002	2.519e-05	0.0005	0.0002	0.0011	0.0009	0.0014	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0008	0.0007	0.0003	0	0.0004	0	0	0.0003	0	0.0009	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1764.29	40	chr3	54918600	.	CA	C	1764.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=843;ExcessHet=0;FS=3.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.216;SOR=0.675	GT:AD:DP:GQ:PL	0/1:87,55:142:99:1778,0,3059	18	0	1	0
chr3	57630458	57630458	T	G	exonic	DENND6A	.	nonsynonymous SNV	DENND6A:NM_152678:exon18:c.A1583C:p.K528T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00623712404706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.288	0.21144	T	0.991	0.64070	D	0.642	0.52168	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.27	0.64531	M	.	.	.	-3.86	0.72471	D	0.69	0.69562	-0.7874	0.55880	T	0.227	0.59246	T	9	0.5948583	0.66584	D	0.006237	0.16376	T	0.320	0.64215	0.57	0.69299	0.24933006939	0.24537	0.627926300067591	0.62725	0.834932950729	0.67778	0.833869338036	0.87156	D	0.143205	0.47921	T	0.212163	0.75034	D	0.0669805	0.74708	D	0.987965404987335	0.78366	D	0.953805	0.82399	D	0.60184544	0.72790	0.31509185	0.57497	0.60184544	0.72791	0.31509185	0.57497	-12.471	0.87069	D	.	.	0.734	0.74359	P	.	.	4.778888	0.77442	26.7	0.99822157275806311	0.90502	0.98930	0.88779	D	AEFDGBIJ	0.735728	0.68145	D	0.499857939807725	0.67083	5.03446	0.550086621562705	0.71403	5.649585	0.999999999921513	0.74766	0.75658	0.98901	0	0.708844	0.79440	0	0.743671	0.96076	0	0.656636	0.63459	0	.	.	5.74	5.74	0.90070	5.950000	0.69982	7.934000	0.75174	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.018	0.80260	201	0.92177	Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	512.33	33	chr3	57630458	.	T	G	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.899;DP=649;ExcessHet=0;FS=3.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.748;SOR=0.268	GT:AD:DP:GQ:PL	0/1:17,20:37:99:526,0,518	18	0	1	0
chr3	72848308	72848308	A	C	exonic	SHQ1	.	nonsynonymous SNV	SHQ1:NM_018130:exon1:c.T33G:p.D11E	.	427	1091	4	0	0	4	0.00182983	.	.	.	720631	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.243	0.00466636702786	0.0020	0.00139776	0.0014	0.0002	0.0004	0.0001	0	0.0023	0	0.0007	0.0013907	215	154602	rs146220182	0.0022	0.0022	0.0022	0.0022	0.0026	0.0021	0.0021	0.0024	0.0024	0.0002	0.0011	0.0060	2.519e-05	0.0001	0.0026	0.0025	0.0022	0.0008	0.0014	0.0014	0.0014	0.0013	0.0026	0.0012	0.0012	0.0019	0.0017	0.0004	0.0110	0.0026	0.0046	0	0.0002	0.0068	0.0018	0.0024	0.0002	0.088	0.32296	T	0.015	0.61642	D	0.006	0.13644	B	0.025	0.20508	B	0.000000	0.84330	D	0.000000	0.999717	0.48481	D	2.13	0.59329	M	1.56	0.29602	T	-2.77	0.58733	D	0.281	0.31814	-1.0740	0.08556	T	0.057	0.23904	T	10	0.007459402	0.00169	T	0.004666	0.11566	T	0.243	0.54921	0.572	0.69564	0.165133752707	0.16062	0.5913796959812789	0.59067	0.0591815698512	0.06573	0.524812698364	0.42305	T	0.112693	0.42916	T	-0.437827	0.01332	T	-0.407542	0.32509	T	0.0137107989545512	0.00256	T	0.731927	0.34732	T	0.5738682	0.71272	0.18034878	0.40828	0.5738682	0.71274	0.18034878	0.40828	-5.515	0.42008	T	.	.	0.225	0.45629	B	.	.	1.489845	0.19165	14.12	0.95518578919279018	0.27134	0.38610	0.26027	N	ALL	0.130360	0.24889	N	-0.786829083007534	0.13652	0.674118	-0.780277192897034	0.14978	0.7854812	0.999999999968203	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	5.81	0.994	0.18950	0.316000	0.19217	1.649000	0.27835	-0.784000	0.03305	0.730000	0.28923	0.931000	0.28545	0.178000	0.21234	0.4583:0.1543:0.3874:0.0	4.779	0.12566	772	0.48957	CS 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	0.003021	0.015152	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1608.33	35	chr3	72848308	.	A	C	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.84;DP=773;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.225;SOR=0.699	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1622,0,1910	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,33:113:99:0|1:75730450_C_T:1084,0,3229:75730450	0	0	19	0
chr3	75730602	75730602	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.G2245A:p.E749K	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333683426	0	1.272e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0100	0.0004	0.0006	0.0044	0.0004	0.0004	0.0029	0.0024	0.0007	0	0.0004	0.0003	0.0010	0.0005	0	0.0002	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	53.33	121	chr3	75730602	.	C	T	53.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.305;DP=1584;ExcessHet=0;FS=7.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.47;MQRankSum=-5.21;QD=0.81;ReadPosRankSum=-0.125;SOR=2.503	GT:AD:DP:GQ:PL	0/1:59,7:66:67:67,0,2380	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,25:143:99:0|1:75736884_G_GA:695,0,4859:75736884	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,26:150:99:0|1:75736884_G_GA:719,0,5045:75736884	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,20:146:99:0|1:75736920_C_A:426,0,5181:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,20:148:99:0|1:75736920_C_A:455,0,5268:75736920	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:126,19:145:29:29,0,3968	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:115,23:138:99:179,0,4139	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,35:173:99:.:.:399,0,4651:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,48:183:99:0|1:75737092_C_T:1609,0,5463:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,48:186:99:0|1:75737092_C_T:1600,0,5589:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,47:183:99:0|1:75737092_C_T:1564,0,5569:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,42:182:99:0|1:75737092_C_T:1322,0,5597:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,27:152:99:0|1:75737151_G_A:757,0,5167:75737151	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	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	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,8:92:80:.:.:80,0,3492:.	7	0	12	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,69:158:99:.:.:2533,0,3412:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,85:178:99:0|1:75737590_A_G:3263,0,3577:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,93:184:99:0|1:75737590_A_G:3631,0,3541:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,92:190:99:0|1:75737590_A_G:3568,0,3838:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,84:188:99:0|1:75737590_A_G:3214,0,4114:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,73:158:99:0|1:75737590_A_G:2809,0,3349:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,46:154:99:0|1:75737814_C_T:1581,0,4270:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,22:144:99:0|1:75737881_T_C:433,0,4898:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,17:142:99:0|1:75737881_T_C:272,0,5142:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,14:137:99:0|1:75737881_T_C:218,0,5092:75737881	1	0	18	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	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,11:155:16:0|1:75737994_T_C:16,0,5966:75737994	7	0	12	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:81,10:91:72:72,0,2488	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:50,18:68:99:331,0,1428	1	0	18	0
chr3	98580709	98580709	G	A	exonic	CPOX	.	nonsynonymous SNV	CPOX:NM_000097:exon7:c.C1339T:p.R447C	Coproporphyria, Autosomal dominant;Harderoporphyria, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	15498	not_provided|Hereditary_coproporphyria|Coproporphyria	MedGen:C3661900|MONDO:MONDO:0007369,MedGen:C0162531,OMIM:121300,Orphanet:79273|MedGen:C0342856	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.856	0.130931915103	7.7e-05	0.000199681	0.0005	9.614e-05	8.66e-05	0	0	0.0006	0.0022	0.0012	0.0004916	76	154602	rs28931603	0.0003	0.0003	0.0003	0.0003	0.0013	0.0003	0.0003	0.0011	0.0011	0.0001	8.944e-05	0	2.519e-05	5.617e-05	0.0003	0.0003	0.0002	0.0013	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	7.213e-05	0.0022	0.0002	0	0	0	0	0.0004	0.0005	0.0008	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.931	0.66596	D	0.000000	0.84330	D	0.049049	1	0.81001	A	2.965	0.85198	M	-3.23	0.93414	D	-5.89	0.88767	D	0.841	0.83678	1.033	0.97771	D	0.872	0.95748	D	9	0.5640648	0.64950	D	0.130932	0.81314	D	0.856	0.95581	.	.	0.946289092156	0.94572	0.724178119186816	0.72361	1.67917241818	0.89949	0.526952803135	0.42605	T	0.721312	0.92126	D	0.0434571	0.57496	T	0.244095	0.85341	D	0.226823409425112	0.21799	T	0.995839	0.98556	D	0.69564253	0.77818	0.3690235	0.62181	0.577449	0.71470	0.46184576	0.68751	-8.199	0.62419	D	0.3586552622947066	0.45528	0.119	0.24294	B	.;.	.;.	5.444201	0.90971	32	0.99914058298546604	0.98238	0.98053	0.79201	D	AEFGBI	0.827079	0.74643	D	0.73888704046814	0.82179	7.69923	0.670749664784127	0.80164	7.238399	0.999999851734118	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	3.83	0.43287	6.178000	0.71900	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0778:0.0:0.7782:0.144	9.195	0.36385	484	0.77165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1254.33	33	chr3	98580709	.	G	A	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=719;ExcessHet=0;FS=1.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.441;SOR=0.905	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1268,0,755	18	0	1	0
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L,ABI3BP:NM_001349332:exon28:c.G2359C:p.V787L,ABI3BP:NM_001349331:exon35:c.G2746C:p.V916L,ABI3BP:NM_001365642:exon40:c.G3112C:p.V1038L,ABI3BP:NM_001377332:exon49:c.G3691C:p.V1231L,ABI3BP:NM_001349330:exon54:c.G4015C:p.V1339L,ABI3BP:NM_001349329:exon57:c.G4225C:p.V1409L,ABI3BP:NM_001375549:exon59:c.G4390C:p.V1464L,ABI3BP:NM_001375550:exon59:c.G4396C:p.V1466L,ABI3BP:NM_001375547:exon60:c.G4438C:p.V1480L	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010111	0.000000	0.002717	0.005848	0.000000	0.000000	0.018405	0.034351	0.05263	1387.83	34	chr3	100775231	.	C	G	1387.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.204;DP=719;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.776;SOR=0.76	GT:AD:DP:GQ:PL	0/1:16,25:41:99:601,0,410	17	0	2	0
chr3	114236396	114236396	A	T	exonic	ZNF80	.	nonsynonymous SNV	ZNF80:NM_007136:exon1:c.T679A:p.Y227N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00102636918161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.259	0.23097	T	0.008	0.14655	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	-0.22	0.03977	N	3.19	0.07353	T	-0.25	0.11008	N	0.12	0.11054	-0.9392	0.42743	T	0.008	0.02842	T	9	0.031539798	0.01291	T	0.001026	0.01120	T	0.018	0.03083	0.24	0.17218	0.132336055621	0.12781	0.01500929834017997	0.01457	0.433043292513	0.43471	0.286775559187	0.08454	T	0.00353	0.02940	T	-0.375842	0.03309	T	-0.777647	0.02525	T	0.0865440948463593	0.10802	T	0.334967	0.07125	T	0.06284952	0.13171	0.058449436	0.10801	0.06284952	0.13171	0.058449436	0.10800	-4.236	0.27270	T	.	.	0.227	0.45906	B	.;.	.;.	0.492193	0.08614	5.383	0.84242186446358369	0.15178	0.00494	0.02336	N	AEFDBI	0.046264	0.07664	N	-1.22288377155059	0.04669	0.2112395	-1.23911309510458	0.05294	0.251908	0.0184579517394489	0.13060	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.22	-0.601	0.11054	-1.098000	0.03456	-0.229000	0.10694	0.728000	0.85494	0.000000	0.06391	0.000000	0.08366	0.225000	0.22599	0.3876:0.1937:0.2301:0.1885	0.331	0.00297	838	0.37812	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1578.33	106	chr3	114236396	.	A	T	1578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.792;DP=1843;ExcessHet=0;FS=1.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=-0.061;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,58:85:99:1592,0,868	18	0	1	0
chr3	123124132	123124132	G	A	exonic	PDIA5	.	nonsynonymous SNV	PDIA5:NM_006810:exon9:c.G676A:p.G226S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.0571235572356	.	.	5.766e-05	0	0.0002	0	0	1.499e-05	0.0011	0.0002	4.53e-05	7	154602	rs763335058	3.763e-05	3.762e-05	2.995e-05	4.538e-05	0.0003	2.96e-05	2.656e-05	0.0002	0.0002	2.987e-05	0.0001	0	0	0	0.0002	1.889e-05	3.312e-05	0.0003	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	0.006	0.61437	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.135	0.28956	L	-0.45	0.69896	T	-5.22	0.83830	D	0.603	0.62103	-0.2952	0.75119	T	0.446	0.78197	T	10	0.8860818	0.87936	D	0.057124	0.66853	D	0.641	0.86333	0.843	0.94784	0.893365600727	0.89231	0.8643225492454258	0.86396	0.233473178775	0.25879	0.584162533283	0.50671	T	0.230466	0.59654	T	0.143879	0.68692	D	0.243195	0.85298	D	0.765461564064026	0.44169	D	0.855414	0.54290	D	0.58412653	0.71833	0.50171405	0.71195	0.58412653	0.71834	0.50171405	0.71195	-6.409	0.49579	T	.	.	0.086	0.10691	B	.	.	4.812824	0.78317	26.9	0.99896608364897044	0.96971	0.98767	0.86589	D	AEFDBI	0.878821	0.80433	D	0.743752340266674	0.82497	7.77726	0.730732814313527	0.84714	8.369155	0.999999999847936	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	6.834000	0.75131	7.540000	0.60069	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.0:1.0:0.0	17.267	0.86975	829	0.39537	Thioredoxin domain|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	.	.	.	.	.	.	.	.	0.02632	2254.33	37	chr3	123124132	.	G	A	2254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.602;DP=783;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.297;SOR=0.796	GT:AD:DP:GQ:PL	0/1:62,86:148:99:2268,0,1446	18	0	1	0
chr3	123931177	123931177	T	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366336:exon8:c.A1247G:p.E416G,CCDC14:NM_001366338:exon8:c.A1247G:p.E416G,CCDC14:NM_001366339:exon9:c.A1364G:p.E455G,CCDC14:NM_001366337:exon10:c.A1247G:p.E416G,CCDC14:NM_001308317:exon11:c.A1247G:p.E416G,CCDC14:NM_022757:exon11:c.A1580G:p.E527G,CCDC14:NM_001366335:exon12:c.A1703G:p.E568G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0280318344195	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330740715	1.027e-05	1.026e-05	5.449e-06	1.514e-05	0.0001	6.17e-06	4.89e-06	8.024e-05	6.257e-05	0	0	0	2.522e-05	0	0	0	3.315e-05	0.0001	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.156	0.92824	T	0.992	0.64738	D	0.73	0.55268	P	0.001179	0.39978	N	0.206931	0.862698	0.35416	D	.	.	.	0.55	0.54728	T	-4.53	0.79829	D	0.521	0.55453	-0.5548	0.66603	T	0.245	0.61354	T	10	0.33476645	0.50645	T	0.028032	0.50763	D	0.124	0.34239	.	.	0.720972507343	0.71851	0.13512863371810796	0.13436	0.351684003519	0.37005	0.377224862576	0.21863	T	0.294173	0.66686	T	-0.0995123	0.36506	T	-0.280089	0.46794	T	0.952404379844666	0.63783	D	0.805919	0.64163	T	.	.	.	.	.	.	.	.	-8.875	0.68248	D	.	.	0.186	0.43869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.944466	0.81627	27.6	0.99919642734404479	0.98654	0.86759	0.46109	D	AEFGBI	0.224830	0.34900	N	0.29540124871822	0.55916	3.755646	0.345965930486884	0.58265	3.996072	0.782480471031075	0.23869	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.17	4.01	0.45821	4.008000	0.56815	5.930000	0.51304	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0894:0.0:0.9106	9.686	0.39263	779	0.47767	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.050000	0.000000	0.000000	0.000000	0.02632	1095.33	35	chr3	123931177	.	T	C	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.323;DP=722;ExcessHet=0;FS=5.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.782;SOR=1.273	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1109,0,1299	18	0	1	0
chr3	126158447	126158447	G	A	exonic	ALDH1L1	.	nonsynonymous SNV	ALDH1L1:NM_001270364:exon3:c.C350T:p.P117L,ALDH1L1:NM_001270365:exon3:c.C320T:p.P107L,ALDH1L1:NM_012190:exon3:c.C320T:p.P107L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.0826987222533	0.0008	0.000399361	0.0008	0.0003	0.0003	0	0	0.0014	0	0.0002	0.0006662	103	154602	rs149080804	0.0011	0.0011	0.0011	0.0011	0.0013	0.0011	0.0010	0.0013	0.0013	0.0002	0.0006	3.831e-05	0	0.0002	0.0002	0.0013	0.0011	0.0002	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0013	0	0	9.411e-05	0	0.0011	0.0019	0	0.001	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.35	0.98464	H	-1.97	0.85173	D	-8.96	0.98804	D	0.914	0.94432	0.927	0.96063	D	0.836	0.94503	D	10	0.6392314	0.68960	D	0.082699	0.73957	D	0.828	0.94541	.	.	0.975417919692	0.97515	0.9103714976162477	0.91011	0.750607852197	0.63758	0.793024301529	0.80902	T	0.80987	0.95237	D	0.0979201	0.64067	D	0.363888	0.90848	D	0.388467460870743	0.28506	T	0.997234	0.98911	D	0.7894856	0.83241	0.67623496	0.80987	0.7894856	0.83242	0.67623496	0.80988	-13.156	0.94077	D	.	.	0.967	0.89791	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.105365	0.85319	28.6	0.99872071616988545	0.94989	0.98872	0.87979	D	AEFDBI	0.971973	0.99391	D	0.948209888882295	0.93913	12.36614	0.822035725929392	0.91283	10.80852	0.999999980386838	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.84	4.84	0.62125	9.822000	0.98298	11.594000	0.93426	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.397000	0.26714	0.0:0.0:1.0:0.0	15.449	0.74987	794	0.45591	Formyl transferase, N-terminal;.;Formyl transferase, N-terminal;.;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal;Formyl transferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1612.33	39	chr3	126158447	.	G	A	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.87;DP=747;ExcessHet=0;FS=5.514;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.437;SOR=1.279	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1626,0,1522	18	0	1	0
chr3	129252353	129252353	A	C	exonic	COPG1	.	nonsynonymous SNV	COPG1:NM_016128:exon3:c.A163C:p.I55L	.	.	.	.	.	.	.	.	.	.	.	3235536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0060217471161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0097	0.0056	0.0049	0.0064	0.0052	0.0051	0.0063	0.0062	0.0037	0.0003	0.0022	0.0011	0.0001	0.0030	0.0064	0.0038	0.0016	3.286e-05	6.566e-05	3.859e-05	2.688e-05	5.886e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	0	0	0	0	0	9.457e-05	0	5.886e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	0.999539	0.47451	D	-0.57	0.02306	N	1.72	0.26588	T	-0.22	0.10480	N	0.403	0.44379	-1.0706	0.09282	T	0.028	0.12058	T	10	0.22875726	0.39787	T	0.006022	0.15728	T	0.130	0.35528	0.772	0.89846	0.265735104816	0.26182	0.5028169752677454	0.50203	0.366017429103	0.38187	0.809481918812	0.83413	D	0.067902	0.33321	T	-0.184249	0.23104	T	-0.502438	0.22094	T	0.347409278154373	0.26917	T	0.816718	0.47282	T	0.2182684	0.44330	0.12141374	0.29295	0.2182684	0.44330	0.12141374	0.29295	-4.394	0.29475	T	.	.	0.073	0.04847	B	.	.	2.886678	0.38214	20.7	0.76156090026892409	0.11355	0.91759	0.54203	D	AEBCI	0.618301	0.60416	D	-0.372133318062997	0.26466	1.444651	-0.127561790552725	0.34283	1.970341	0.999999548183057	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.03	5.03	0.67015	6.116000	0.71264	6.964000	0.57067	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	12.737	0.56601	508	0.75398	Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	36.33	34	chr3	129252353	.	A	C	36.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.576;DP=786;ExcessHet=0;FS=71.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=0.357;SOR=6.593	GT:AD:DP:GQ:PL	0/1:110,26:136:50:50,0,2655	18	0	1	0
chr3	130661991	130661991	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6185A:p.G2062D	.	427	1094	1	0	0	1	0.00045683	.	.	.	2284897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.644	0.047430954349	8.3e-05	.	8.286e-05	0	0	0	0	7.494e-05	0	0.0003	6.47e-05	10	154602	rs372431409	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0010	4.059e-05	3.734e-05	0.0005	0.0003	0	0	0.0001	0	0	0.0010	2.428e-05	9.938e-05	0.0004	5.257e-05	5.254e-05	6.425e-05	4.035e-05	0.0004	2.557e-05	1.83e-05	7.29e-05	3.029e-05	2.414e-05	0	0	0	0	9.429e-05	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	.	.	.	.	0.931995	0.37007	D	3.155	0.88459	M	-2.03	0.85613	D	-5.95	0.89152	D	0.913	0.91505	0.721	0.93438	D	0.756	0.91675	D	9	0.9451467	0.93839	D	0.047431	0.62920	D	0.644	0.86485	.	.	0.665750352487	0.66293	0.5739850754486059	0.57327	0.409156735794	0.41733	0.550466656685	0.45923	T	0.447486	0.78973	T	-0.0188773	0.49012	T	0.0396552	0.72905	D	0.824996829032898	0.48146	D	0.941906	0.78301	D	0.7146814	0.78866	0.7352693	0.84354	0.7146814	0.78867	0.7352693	0.84355	-12.831	0.88654	D	.	.	0.916	0.83930	P	.	.	4.695326	0.75284	26.3	0.99725833786828255	0.82406	0.87275	0.46765	D	AEFBI	0.498742	0.53272	N	0.5554910787063	0.70419	5.498476	0.455725821692303	0.65087	4.779376	0.462217057372942	0.20634	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	5.17	0.70848	4.711000	0.61570	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0679:0.13:0.8021:0.0	11.924	0.52089	448	0.79501	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	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	0.02632	2090.33	33	chr3	130661991	.	G	A	2090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.121;DP=811;ExcessHet=0;FS=0.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.285;SOR=0.632	GT:AD:DP:GQ:PL	0/1:102,81:183:99:2104,0,2932	18	0	1	0
chr3	138162433	138162433	T	C	exonic	DBR1	.	nonsynonymous SNV	DBR1:NM_016216:exon8:c.A1091G:p.N364S	.	431	1090	1	0	0	1	0.000458505	.	.	.	2098486	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.346	.	0.0005	0.00559105	0.0027	0.0014	8.639e-05	0.0337	0	0.0001	0	0.0007	0.0025097	388	154602	rs117574050	0.0010	0.0010	0.0010	0.0010	0.0290	0.0009	0.0009	0.0276	0.0270	0.0013	4.472e-05	0.0011	0.0290	0	0	3.597e-05	0.0015	0.0008	0.0015	0.0015	0.0013	0.0017	0.0324	0.0014	0.0013	0.0284	0.0269	0.0012	0	0.0003	0.0003	0.0324	0	0	8.82e-05	0.0005	0.0004	0.06	0.37326	T	0.056	0.46632	T	0.261	0.31520	B	0.367	0.43430	B	0.000380	0.45194	N	0.274240	0.999958	0.52396	D	2.13	0.59329	M	-0.11	0.64445	T	-4.56	0.78636	D	0.187	0.20395	-0.6535	0.62561	T	0.070	0.28577	T	10	0.008396745	0.00190	T	.	.	.	0.346	0.66769	.	.	0.285698343383	0.28168	0.6988408204198442	0.69825	0.336636038769	0.35660	0.303295791149	0.10893	T	0.430938	0.77923	T	-0.535889	0.00354	T	-0.511843	0.21125	T	0.0978463634093577	0.12118	T	0.762324	0.38756	T	0.101667725	0.24017	0.18749988	0.41986	0.101667725	0.24017	0.18749988	0.41985	-9.99	0.73852	D	.	.	0.051	0.00195	B	.	.	-0.836611	0.01037	0.044	0.95764078461665059	0.27759	0.88145	0.47945	D	AEFDGBI	0.074168	0.14859	N	-1.01379197555464	0.08317	0.3895424	-1.11629516365328	0.07389	0.3592012	0.999995328245904	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.99	-10.9	0.00151	0.172000	0.16518	-11.510000	0.00598	-1.462000	0.01081	0.987000	0.36337	0.000000	0.08366	0.868000	0.41282	0.0:0.655:0.0:0.345	20.248	0.98401	530	0.73653	Lariat debranching enzyme, C-terminal|Lariat debranching enzyme, 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	.	.	.	.	.	.	.	.	0.02632	2161.33	44	chr3	138162433	.	T	C	2161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.461;DP=853;ExcessHet=0;FS=2.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=2.59;SOR=0.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,76:126:99:0|1:138162423_T_A:2175,0,1504:138162423	18	0	1	0
chr3	149968529	149968529	C	T	exonic	PFN2	.	nonsynonymous SNV	PFN2:NM_002628:exon2:c.G154A:p.V52I,PFN2:NM_053024:exon2:c.G154A:p.V52I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0159572332623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.28900	T	0.189	0.37310	T	0.007	0.19245	B	0.009	0.14300	B	0.026221	0.25958	N	0.440690	0.932823	0.81001	D	0.795	0.19620	N	-2.11	0.86888	D	-0.63	0.19085	N	0.259	0.33578	-0.4138	0.71589	T	0.393	0.74641	T	10	0.24845102	0.42141	T	0.015957	0.36975	T	0.199	0.48268	0.493	0.58048	0.546836033694	0.54339	0.7340708309852572	0.73352	0.96515572476	0.73150	0.686116635799	0.65147	T	0.405111	0.76138	T	-0.100723	0.36305	T	-0.382458	0.35434	T	0.492427051067352	0.32353	T	0.862114	0.55677	D	0.10226245	0.24163	0.09642907	0.22912	0.10226245	0.24162	0.09642907	0.22912	-3.047	0.10696	T	.	.	0.096	0.22135	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.588335	0.50618	23.0	0.98956341352744948	0.49246	0.77955	0.38392	D	AEFDBHCI	.	.	.	-0.220370960934859	0.32298	1.820033	-0.0285801526218841	0.38428	2.263993	0.999982751229931	0.51787	0.542737	0.22433	0	0.627608	0.54475	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.42	4.53	0.55009	3.133000	0.50225	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8517:0.0:0.1483	10.719	0.45226	861	0.33516	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	638.33	34	chr3	149968529	.	C	T	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.67;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.722;SOR=0.583	GT:AD:DP:GQ:PL	0/1:48,28:76:99:652,0,1326	18	0	1	0
chr3	159993478	159993478	A	C	exonic	IL12A	.	nonsynonymous SNV	IL12A:NM_001354583:exon3:c.A292C:p.T98P,IL12A:NM_000882:exon4:c.A406C:p.T136P	.	426	1086	8	2	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.00843435092597	.	0.000199681	0.0004	0	0	0	0	0.0002	0	0.0020	0.0003363	52	154602	rs201655135	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0015	0.0015	0	0.0002	0	0	0	0.0016	0.0001	0.0001	0.0018	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0006	0.0005	4.814e-05	0	0.0010	0	0	0	0.0034	0.0002	0	0.0012	0.022	0.48642	D	0.059	0.45961	T	0.952	0.54136	P	0.6	0.50752	P	0.675530	0.10304	N	0.845782	0.999238	0.46406	D	.	.	.	.	.	.	-2.33	0.51646	N	0.17	0.21839	-0.8153	0.54226	T	0.188	0.53886	T	9	0.024997741	0.00708	T	0.008434	0.22307	T	0.529	0.80128	.	.	0.495773158881	0.49211	0.2888499817382312	0.28797	0.439593300517	0.43988	0.31991392374	0.13408	T	0.093031	0.39127	T	-0.31318	0.07470	T	-0.228186	0.51947	T	0.0752771075845379	0.09372	T	0.577942	0.21745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10835	B	.;.	.;.	1.972634	0.25058	16.62	0.98293580775060374	0.39973	0.31389	0.24325	N	AEFBI	0.167280	0.29394	N	-0.0949251910993832	0.37615	2.190934	-0.247640804069643	0.29853	1.675935	0.999196270100104	0.38711	0.57788	0.32782	0	0.546412	0.12157	0	0.491513	0.07944	0	0.421255	0.06892	1	.	.	3.8	2.66	0.30672	0.756000	0.26084	0.632000	0.20237	0.751000	0.87719	0.009000	0.18154	0.015000	0.20450	0.194000	0.21720	0.8789:0.0:0.1211:0.0	5.666	0.16971	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	399.33	31	chr3	159993478	.	A	C	399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=650;ExcessHet=0;FS=2.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.25;SOR=0.144	GT:AD:DP:GQ:PL	0/1:22,14:36:99:413,0,767	18	0	1	0
chr3	167621509	167621509	A	C	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon4:c.T741G:p.D247E,WDR49:NM_001348952:exon4:c.T741G:p.D247E,WDR49:NM_001366157:exon4:c.T741G:p.D247E	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	.	0.000599042	0.0050	0.0052	0	0	0.0192	0.0069	0.0153	0.0008	0.0014812	229	154602	rs199768118	0.0074	0.0070	0.0074	0.0073	0.0082	0.0072	0.0072	0.0081	0.0080	0.0009	0.0017	0.0019	8.405e-05	0.0221	0.0012	0.0082	0.0059	0.0010	0.0062	0.0062	0.0059	0.0065	0.0091	0.0059	0.0057	0.0085	0.0083	0.0015	0.0055	0.0010	0.0026	0	0.0210	0.0034	0.0091	0.0010	0.0006	0.093	0.31532	T	0.036	0.52060	D	0.999	0.77913	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	1.53	0.30401	T	-1.66	0.46503	N	0.387	0.42834	-0.9810	0.34771	T	0.089	0.34353	T	8	0.008512706	0.00193	T	.	.	.	0.193	0.47281	0.622	0.75690	0.152612264143	0.14878	.	.	.	.	.	.	.	.	.	.	-0.457512	0.01019	T	-0.419573	0.31125	T	0.0388814978897951	0.03489	T	0.477752	0.14466	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.52671	B	.;.;.;.	.;.;.;.	2.552193	0.33039	19.22	0.98786345254888808	0.46222	0.85376	0.44503	D	AEFI	0.304131	0.41192	N	0.0974093780209554	0.46340	2.876	0.0712987830678102	0.43112	2.619833	1.95318645543187E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	1.61	0.22752	1.420000	0.34411	2.594000	0.33484	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7765:0.0:0.2235:0.0	9.159	0.36171	842	0.36989	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1063.33	34	chr3	167621509	.	A	C	1063.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=693;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.019;SOR=0.823	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1077,0,943	18	0	1	0
chr3	167627286	167627286	G	C	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon3:c.C172G:p.Q58E,WDR49:NM_001348952:exon3:c.C172G:p.Q58E,WDR49:NM_001366157:exon3:c.C172G:p.Q58E	.	435	1061	25	1	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	.	0.0135783	0.0012	0.0159	0	0	0	0	0	0.025	0.0009508	147	154602	rs77319753	0.0014	0.0014	0.0014	0.0015	0.0269	0.0014	0.0014	0.0252	0.0245	0.0269	0.0032	0	7.53e-05	9.303e-05	0.0090	0.0004	0.0041	0.0141	0.0085	0.0085	0.0084	0.0085	0.0262	0.0081	0.0079	0.0250	0.0244	0.0262	0.0022	0.0037	0	0.0012	0	0.0068	0.0008	0.0071	0.0127	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	1.01	0.41058	T	0.51	0.02898	N	0.048	0.01999	-1.0941	0.04884	T	0.016	0.06425	T	8	0.0038439333	0.00073	T	.	.	.	0.125	0.34456	.	.	0.144782658237	0.14088	.	.	.	.	.	.	.	.	.	.	-0.674961	0.00051	T	-0.723387	0.04633	T	0.00859171539074002	0.00105	T	0.174383	0.01678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.00142	B	.;.	.;.	1.165256	0.15545	11.93	0.79373966206559421	0.12713	0.01533	0.05044	N	AEFI	0.056392	0.10421	N	-0.676723383152416	0.16687	0.8523274	-0.584740273411319	0.19891	1.069224	0.0113295462184001	0.12167	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.1	5.1	0.68917	3.438000	0.52634	3.927000	0.40510	-0.174000	0.10959	1.000000	0.71638	1.000000	0.68203	0.275000	0.23893	0.0:0.8562:0.1438:0.0	14.996	0.71087	805	0.43675	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	804.33	33	chr3	167627286	.	G	C	804.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=707;ExcessHet=0;FS=3.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.604;SOR=0.377	GT:AD:DP:GQ:PL	0/1:54,33:87:99:818,0,1378	18	0	1	0
chr3	179745208	179745208	C	T	exonic	USP13	.	nonsynonymous SNV	USP13:NM_003940:exon13:c.C1700T:p.A567V	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.018163752203	.	0.00139776	0.0007	0	8.642e-05	0	0	0	0	0.0050	0.0005886	91	154602	rs554239812	0.0003	0.0003	0.0002	0.0005	0.0047	0.0003	0.0003	0.0043	0.0041	0.0001	0	0	0	0	0.0002	4.033e-06	0.0001	0.0047	0.0002	0.0002	0.0001	0.0002	0.0062	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0062	0.427	0.13610	T	0.379	0.16668	T	0.206	0.29860	B	0.09	0.29851	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	0.33	0.10399	N	-0.77	0.73523	T	0.03	0.08971	N	0.23	0.30233	-0.8115	0.54460	T	0.210	0.56987	T	10	0.010353208	0.00231	T	0.018164	0.40130	T	0.204	0.49076	0.379	0.39482	0.76226186153	0.76009	0.5042067756078514	0.50342	0.307753395875	0.33067	0.865832209587	0.91966	D	0.026181	0.19430	T	-0.30699	0.08016	T	-0.213068	0.53402	T	0.108240590602843	0.13240	T	0.792821	0.44420	T	0.1585431	0.35663	0.13017787	0.31286	0.1585431	0.35662	0.13017787	0.31285	-7.344	0.62532	T	.	.	0.376	0.58185	A	.;.;.	.;.;.	4.808499	0.78206	26.9	0.94813394510028126	0.25576	0.94230	0.60510	D	AEFBIJ	0.413439	0.48311	N	-0.100722153289776	0.37361	2.172543	0.0867337742179027	0.43879	2.680682	0.999998852049275	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	4.5	0.54382	3.219000	0.50901	7.551000	0.60274	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.842000	0.39752	0.1385:0.8615:0.0:0.0	15.535	0.75733	808	0.43318	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	629.33	35	chr3	179745208	.	C	T	629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=692;ExcessHet=0;FS=12.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.48;SOR=0.081	GT:AD:DP:GQ:PL	0/1:22,25:47:99:643,0,516	18	0	1	0
chr3	184038904	184038904	C	A	exonic	HTR3D	.	nonsynonymous SNV	HTR3D:NM_182537:exon6:c.C769A:p.L257M,HTR3D:NM_001145143:exon8:c.C1144A:p.L382M,HTR3D:NM_001163646:exon8:c.C1294A:p.L432M	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	.	0.0090	0.00938498	0.0049	0.0255	0.0084	0.0002	0.0003	0.0023	0.0110	0.0035	0.0045795	708	154602	rs115389821	0.0026	0.0026	0.0026	0.0026	0.0273	0.0026	0.0025	0.0258	0.0252	0.0273	0.0079	0.0064	0.0004	0.0003	0.0135	0.0015	0.0062	0.0036	0.0089	0.0089	0.0088	0.0090	0.0225	0.0085	0.0083	0.0213	0.0208	0.0225	0	0.0114	0.0046	0	0.0003	0.0442	0.0022	0.0184	0.0048	0.036	0.43393	D	0.036	0.52060	D	0.372	0.68779	B	0.377	0.60615	B	0.000124	0.49741	D	0.000000	0.998285	0.22833	N	2.165	0.60562	M	-1.85	0.84267	D	-1.59	0.39503	N	0.459	0.51672	-0.3990	0.72059	T	0.438	0.77708	T	10	0.010040611	0.00225	T	.	.	.	0.469	0.76355	.	.	0.535584383668	0.53208	0.09576115716129735	0.09508	0.56031135281	0.52562	.	.	.	0.00821	0.07549	T	-0.305625	0.08140	T	-0.192861	0.55322	T	0.0194617689242302	0.00650	T	0.511449	0.16356	T	0.15048273	0.34256	0.15137953	0.35662	0.15048273	0.34256	0.15137953	0.35661	-6.913	0.58778	T	.	.	0.170	0.40164	B	.;.;.;.	.;.;.;.	3.198392	0.43488	21.7	0.9938717465868433	0.62157	0.97399	0.74502	D	AEFDGBI	0.397479	0.47354	N	0.188782622342907	0.50661	3.253971	0.215602674663568	0.50713	3.260472	0.938049403297843	0.27325	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.11	3.23	0.36150	4.016000	0.56871	1.049000	0.23621	0.596000	0.33519	0.998000	0.41325	0.063000	0.22074	0.583000	0.30967	0.0:0.878:0.0:0.122	7.056	0.24278	237	0.90758	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.070707	0.042120	0.014620	0.050000	0.008621	0.000000	0.000000	0.02632	3460.33	90	chr3	184038904	.	C	A	3460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.169;DP=1826;ExcessHet=0;FS=0.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.6;MQRankSum=-2.979;QD=14.66;ReadPosRankSum=2.04;SOR=0.763	GT:AD:DP:GQ:PL	0/1:103,133:236:99:3474,0,3699	18	0	1	0
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	1683.63	189	chr3	195779400	.	A	*	1683.63	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.547;DP=3282;ExcessHet=0.2319;FS=1.813;InbreedingCoeff=0.242;MLEAC=17;MLEAF=0.531;MQ=55.64;MQRankSum=-11.35;QD=0.78;ReadPosRankSum=3.35;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	7	6	3	3
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3477.33	189	chr3	195779404	.	G	*	3477.33	.	AC=14;AF=0.389;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	10	6	2	1
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779410	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.792;DP=3196;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.6;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	10	6	2	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779411	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.366;DP=3193;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.56;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	10	6	2	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3192.38	189	chr3	195779418	.	A	*	3192.38	.	AC=12;AF=0.353;AN=34;DP=3161;ExcessHet=0.0001;FS=0.615;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	10	5	2	2
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	3190.95	189	chr3	195779420	.	CAT	*	3190.95	.	AC=14;AF=0.412;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=15;MLEAF=0.441;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	9	6	2	2
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3191.99	189	chr3	195779431	.	G	*	3191.99	.	AC=12;AF=0.333;AN=36;DP=3005;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7221;MLEAC=13;MLEAF=0.361;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	11	5	2	1
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	6862.64	189	chr3	195779432	.	G	*	6862.64	.	AC=12;AF=0.353;AN=34;BaseQRankSum=1.82;DP=3050;ExcessHet=0.0001;FS=2.447;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=58.49;MQRankSum=8.1;QD=4.01;ReadPosRankSum=-0.688;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	10	5	2	2
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3317.78	189	chr3	195779444	.	T	*	3317.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=4.59;DP=2827;ExcessHet=0;FS=3.028;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.03;MQRankSum=1.77;QD=2.71;ReadPosRankSum=2.62;SOR=0.102	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	11	6	1	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3285.78	189	chr3	195779447	.	C	*	3285.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.025;DP=2844;ExcessHet=0;FS=1.652;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.09;MQRankSum=0.958;QD=2.68;ReadPosRankSum=1.99;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,93:93:99:.:.:4072,288,0:.	11	6	1	1
chr3	195779612	195779612	T	0	exonic	MUC4	.	.	.	.	599	673	33	49	168	299	0.0886933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9936.45	223	chr3	195779612	.	T	*	9936.45	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.06;DP=3149;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7301;MLEAC=14;MLEAF=0.389;MQ=56.36;MQRankSum=3.81;QD=3.83;ReadPosRankSum=-0.184;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	10	6	2	1
chr3	195779614	195779614	T	0	exonic	MUC4	.	.	.	.	600	676	33	49	164	295	0.0883345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9937.47	223	chr3	195779614	.	T	*	9937.47	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.18;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7271;MLEAC=15;MLEAF=0.417;MQ=56.23;MQRankSum=3.81;QD=3.83;ReadPosRankSum=0.136;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	10	6	2	1
chr3	195779615	195779615	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9912.43	223	chr3	195779615	.	C	*	9912.43	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.27;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7287;MLEAC=15;MLEAF=0.417;MQ=56.26;MQRankSum=3.86;QD=3.83;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	10	6	2	1
chr3	195779623	195779623	G	0	exonic	MUC4	.	.	.	.	548	729	34	47	164	292	0.0807062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	9823.81	223	chr3	195779623	.	G	*	9823.81	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.2;DP=3131;ExcessHet=0;FS=1.316;InbreedingCoeff=0.7693;MLEAC=14;MLEAF=0.368;MQ=56.3;MQRankSum=3.87;QD=3.77;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	11	6	2	0
chr3	195779628	195779628	G	0	exonic	MUC4	.	.	.	.	61	94	11	17	43	88	0.193133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	10317.3	223	chr3	195779628	.	G	*	10317.3	.	AC=14;AF=0.538;AN=26;BaseQRankSum=1.35;DP=2933;ExcessHet=0.002;FS=0.723;InbreedingCoeff=0.5476;MLEAC=19;MLEAF=0.731;MQ=56.44;MQRankSum=0.448;QD=4.3;ReadPosRankSum=-1.193;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	5	6	2	6
chr3	195779658	195779658	A	0	exonic	MUC4	.	.	.	.	544	791	3	17	167	204	0.0228536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2457.99	223	chr3	195779658	.	A	*	2457.99	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.12;DP=2993;ExcessHet=0;FS=0.688;InbreedingCoeff=0.7788;MLEAC=14;MLEAF=0.368;MQ=55.73;MQRankSum=0.326;QD=1.1;ReadPosRankSum=-0.172;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	11	6	2	0
chr3	195779659	195779663	CGGCT	0	exonic	MUC4	.	.	.	.	825	508	5	15	169	204	0.0333016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	2306.53	112	chr3	195779659	.	CGGCT	*	2306.53	.	AC=15;AF=0.577;AN=26;BaseQRankSum=2.14;DP=2891;ExcessHet=0;FS=0.744;InbreedingCoeff=0.6696;MLEAC=20;MLEAF=0.769;MQ=53.89;MQRankSum=1.62;QD=1.11;ReadPosRankSum=0.401;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	5	7	1	6
chr3	195779676	195779676	A	0	exonic	MUC4	.	.	.	.	468	870	11	10	163	194	0.0175042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	2274.57	157	chr3	195779676	.	A	*	2274.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-0.398;DP=2996;ExcessHet=0;FS=1.264;InbreedingCoeff=0.8688;MLEAC=11;MLEAF=0.344;MQ=54.34;MQRankSum=1.62;QD=1.98;ReadPosRankSum=2.7;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	11	5	0	3
chr3	195779678	195779678	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	5878.28	124	chr3	195779678	.	A	*	5878.28	.	AC=13;AF=0.433;AN=30;BaseQRankSum=1.34;DP=3041;ExcessHet=0;FS=0;InbreedingCoeff=0.6827;MLEAC=15;MLEAF=0.5;MQ=51.99;MQRankSum=3.07;QD=3.82;ReadPosRankSum=3.4;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	8	6	1	4
chr3	195779698	195779698	A	0	exonic	MUC4	.	.	.	.	13	166	3	2	42	49	0.020649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	2558.51	129	chr3	195779698	.	A	*	2558.51	.	AC=11;AF=0.423;AN=26;BaseQRankSum=2.63;DP=3146;ExcessHet=0;FS=0;InbreedingCoeff=0.5756;MLEAC=14;MLEAF=0.538;MQ=52.04;MQRankSum=3.14;QD=2.14;ReadPosRankSum=1.88;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,128:133:99:1|1:195779564_T_G:5331,255,0:195779564	7	5	1	6
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	59846.4	195	chr3	195779882	.	G	*	59846.4	.	AC=14;AF=0.538;AN=26;BaseQRankSum=0.967;DP=4496;ExcessHet=0;FS=0;InbreedingCoeff=0.4742;MLEAC=18;MLEAF=0.692;MQ=59.04;MQRankSum=-0.232;QD=18.15;ReadPosRankSum=-0.056;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,85:85:99:.:.:3742,270,0:.	5	6	2	6
chr3	195780062	195780062	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11518T:p.P3840S,MUC4:NM_001322468:exon15:c.C10078T:p.P3360S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00191585631282	.	.	0.0011	0	0	0	0	0.0031	0	0	0.0001294	20	154602	rs77359000	4.961e-05	0.0003	4.155e-05	5.806e-05	0.0008	3.601e-05	3.186e-05	0.0003	0.0002	8.663e-05	0	0.0001	0.0008	0	0.0005	4.027e-05	7.523e-05	2.452e-05	7.115e-05	0.0011	6.979e-05	7.257e-05	0.0007	2.36e-05	1.418e-05	.	.	8.741e-05	0.0028	0	0	0.0007	0	0	3.551e-05	0	0	0.195	0.20759	T	0.743	0.04930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.72	0.02099	N	0.081	0.05670	-1.0123	0.26196	T	0.046	0.19680	T	7	0.008221775	0.00187	T	0.001916	0.03377	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.0039050109296569226	0.00366	.	.	0.447340726852	0.31581	T	.	.	.	-0.349742	0.04743	T	-0.740157	0.03884	T	0.0408287172558713	0.03842	T	0.649735	0.26051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09143	B	.;.	.;.	0.464580	0.08344	5.093	0.88083583345962002	0.17703	0.00192	0.01112	N	AEFBI	0.054969	0.10039	N	-1.24007928164337	0.04431	0.1999952	-1.34230980039169	0.03896	0.1827371	1.27391591289984E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.778000	0.04770	-0.825000	0.07279	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.123552	0.272727	0.153179	0.140845	0.000000	0.064516	0.089109	0.052632	0.05882	4631.74	396	chr3	195780062	.	G	A	4631.74	.	AC=2;AF=0.059;AN=34;BaseQRankSum=1.81;DP=4944;ExcessHet=0.0107;FS=4.271;InbreedingCoeff=0.3667;MLEAC=2;MLEAF=0.059;MQ=56.06;MQRankSum=1.96;QD=3.14;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,155:156:99:.:.:4657,457,0:.	16	1	0	2
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	820.79	19	chr3	195780215	.	C	*	820.79	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-0.755;DP=8489;ExcessHet=2.1469;FS=13.715;InbreedingCoeff=-0.2667;MLEAC=5;MLEAF=0.208;MQ=55.03;MQRankSum=-8.258;QD=0.49;ReadPosRankSum=0.181;SOR=1.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,32:145:99:0|1:195780165_C_G:927,0,4567:195780165	8	0	4	7
chr3	195781207	195781207	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10373T:p.P3458L,MUC4:NM_001322468:exon12:c.C9173T:p.P3058L	.	432	1042	10	0	38	48	0.00477555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00120307283544	.	.	0.0006	0.0005	0	0	0.0012	0.0010	0	0	.	.	.	rs879759934	0.0011	0.0026	0.0011	0.0012	0.0053	0.0011	0.0011	0.0035	0.0030	0.0019	0.0009	0.0011	0.0002	0.0007	0.0053	0.0012	0.0010	0.0002	0.0002	0.0009	0.0002	0.0002	0.0002	0.0001	9.857e-05	0.0001	9.874e-05	8.503e-05	0	0.0001	0	0	0.0004	0	0.0002	0	0.0002	0.013	0.53900	D	0.398	0.15206	T	.	.	.	.	.	.	.	.	.	.	1	0.21520	N	.	.	.	1.08	0.39401	T	0.1	0.06138	N	0.046	0.01825	-1.0168	0.24755	T	0.103	0.38019	T	8	0.02877155	0.01007	T	0.001203	0.01558	T	0.033	0.08068	0.159	0.06287	0.202086224978	0.19791	7.427820568819189E-4	0.00068	.	.	0.513316571712	0.40686	T	.	.	.	-0.285342	0.10110	T	-0.64765	0.09120	T	0.0210792842930623	0.00810	T	0.746025	0.37107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.36594	B	.;.	.;.	1.994383	0.25342	16.73	0.76875715862694394	0.11645	0.02620	0.07203	N	AEFBCI	0.055164	0.10093	N	-0.679693110555333	0.16601	0.8472753	-0.923299002498952	0.11544	0.5888008	4.84207045945908E-5	0.03989	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	0.743	0.743	0.17496	0.283000	0.18605	-0.221000	0.10763	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	1.0E-4:0.0:0.9999:0.0	6.905	0.23486	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	.	.	.	.	.	.	.	.	0.02778	1748.71	567	chr3	195781207	.	G	A	1748.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.991;DP=7014;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=55.32;MQRankSum=-2.03;QD=7.14;ReadPosRankSum=-2.34;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,60:245:99:0|1:195781207_G_A:1762,0,7353:195781207	17	0	1	1
chr3	195781234	195781234	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10346T:p.A3449V,MUC4:NM_001322468:exon12:c.C9146T:p.A3049V	.	460	1029	28	2	3	35	0.015311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.000563479903346	.	.	0.0005	0.0027	0	0	0.0012	0.0003	0	0.0001	.	.	.	rs865988567	0.0002	0.0012	0.0002	0.0002	0.0031	0.0001	0.0001	0.0026	0.0024	0.0031	0.0004	0.0001	3.17e-05	6.908e-05	0.0003	7.206e-05	0.0003	0.0001	0.0003	0.0018	0.0003	0.0004	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	7.698e-05	0	0	0.0002	0	0.0001	0	0	0.369	0.11586	T	0.095	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.46	0.32958	T	-0.7	0.19933	N	0.041	0.01421	-1.0086	0.27354	T	0.038	0.16591	T	8	0.012799859	0.00274	T	5.63E-4	0.00221	T	0.028	0.06331	.	.	0.0138822411134	0.00435	1.400514204918446E-4	0.00012	.	.	0.488370060921	0.37212	T	.	.	.	-0.369719	0.03608	T	-0.768852	0.02806	T	0.0145343560725451	0.00297	T	0.691131	0.30243	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24260	B	.;.	.;.	-0.084122	0.03738	0.772	0.63688682330724611	0.07290	0.02188	0.06398	N	AEFBCI	0.058145	0.10887	N	-1.73849665328504	0.00714	0.03082306	-1.85502480068086	0.00599	0.02659145	2.27321539588462E-5	0.03498	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	0.743	-1.49	0.08259	-0.413000	0.07188	-1.144000	0.06200	-1.683000	0.00782	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.265:0.0:0.735:0.0	4.978	0.13495	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000687	0.000000	0.002008	0.000000	0.000000	0.000000	0.000000	0.000000	0.05556	666.58	540	chr3	195781234	.	G	A	666.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.66;DP=7854;ExcessHet=0.119;FS=13.702;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=56.7;MQRankSum=-2.231;QD=1;ReadPosRankSum=-4.172;SOR=2.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,25:228:99:0|1:195781207_G_A:439,0,8428:195781207	16	0	2	1
chr3	195781555	195781555	-	CC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.10024_10025insGG:p.T3342Rfs*918,MUC4:NM_001322468:exon12:c.8824_8825insGG:p.S2942Rfs*560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673	0.0116	0.0319	0.0508	0.1072	0.0441	0.1087	0.1044	.	.	.	rs767488255	3.671e-05	0.0020	3.447e-05	3.903e-05	0.0003	2.783e-05	2.478e-05	5.335e-05	3.146e-05	0.0002	6.518e-05	4.921e-05	3.324e-05	0.0003	0.0003	1.933e-05	0.0001	0	0.0008	0.0046	0.0007	0.0010	0.0018	0.0007	0.0007	0.0010	0.0007	0.0010	0	0.0009	0.0006	0.0018	0.0015	0	0.0006	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	109.65	679	chr3	195781555	.	G	GCC	109.65	.	AC=1;AF=0.031;AN=32;DP=8430;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.031;MQ=56.05;QD=0.06;SOR=1.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,18:227:99:0|1:195781555_G_GCC:122,0,8681:195781555	15	0	1	3
chr3	195781558	195781559	TC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.10021_10022del:p.D3341Hfs*32,MUC4:NM_001322468:exon12:c.8821_8822del:p.T2941Qfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0681	0.0117	0.0346	0.0520	0.1081	0.0448	0.1087	0.1052	.	.	.	rs760242746	4.615e-05	0.0025	4.469e-05	4.764e-05	0.0005	3.567e-05	3.224e-05	0.0003	0.0002	0.0005	6.619e-05	0	3.409e-05	0.0004	0.0003	2.124e-05	8.638e-05	0	0.0007	0.0048	0.0006	0.0008	0.0018	0.0006	0.0005	0.0009	0.0007	0.0008	0	0.0009	0.0007	0.0018	0.0014	0	0.0005	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	30.65	679	chr3	195781557	.	GTC	G	30.65	.	AC=1;AF=0.031;AN=32;DP=8414;ExcessHet=0.3672;FS=3.271;InbreedingCoeff=-0.1343;MLEAC=1;MLEAF=0.031;MQ=55.86;QD=0.02;SOR=1.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,16:222:43:0|1:195781555_G_GCC:43,0,8562:195781555	15	0	1	3
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	58698.1	630	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	58698.1	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.997;DP=7467;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.2599;MLEAC=7;MLEAF=0.206;MQ=54.21;MQRankSum=-0.328;QD=11.66;ReadPosRankSum=0.523;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:28,45:176:99:.:.:5277,3360,5139:.	11	1	5	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,153:181:99:0|1:195781605_G_*:6161,0,328:195781605	5	5	8	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	5142.35	626	chr3	195781639	.	A	*	5142.35	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.999;DP=5165;ExcessHet=0.0045;FS=0.658;InbreedingCoeff=0.4524;MLEAC=11;MLEAF=0.55;MQ=54.5;MQRankSum=-1.273;QD=3.6;ReadPosRankSum=2.35;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,153:181:99:0|1:195781605_G_*:6161,0,328:195781605	5	2	3	9
chr3	195781645	195781645	G	0	exonic	MUC4	.	.	.	.	536	587	364	31	4	430	0.26625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	11129.9	626	chr3	195781645	.	G	*	11129.9	.	AC=5;AF=0.313;AN=16;DP=5120;ExcessHet=0;FS=0;InbreedingCoeff=0.4965;MLEAC=9;MLEAF=0.563;MQ=59.87;QD=13.51;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,153:181:99:0|1:195781605_G_*:6161,0,328:195781605	5	2	1	11
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	4726.44	626	chr3	195781647	.	A	*	4726.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.821;DP=4938;ExcessHet=0.0072;FS=3.612;InbreedingCoeff=0.475;MLEAC=11;MLEAF=0.55;MQ=54.6;MQRankSum=-3.859;QD=4.23;ReadPosRankSum=-5.711;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,153:181:99:0|1:195781605_G_*:6161,0,328:195781605	5	2	3	9
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	3832.91	626	chr3	195781666	.	A	*	3832.91	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.147;DP=4792;ExcessHet=0.0045;FS=1.45;InbreedingCoeff=0.5048;MLEAC=11;MLEAF=0.5;MQ=53.13;MQRankSum=-8.387;QD=2.81;ReadPosRankSum=-3.179;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,153:181:99:0|1:195781605_G_*:6161,0,328:195781605	6	2	3	8
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,93:210:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2014,0,4462:195781775	7	1	10	1
chr3	195782411	195782411	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9169G:p.L3057V	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0018974840316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158136848	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	7.625e-05	0.0004	0.0015	3.796e-05	0.0015	0	0.0004	0.0006	0	0.0016	0.0052	0.0017	0.0014	0.0022	0.0014	0.0013	0.0019	0.0018	0.0006	0.0086	0.0011	0.0031	0	0.0015	0	0.0022	0.0005	0.0004	0.371	0.22660	T	0.666	0.06427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.32482	T	-0.02	0.07299	N	0.043	0.01577	-1.0380	0.17924	T	0.029	0.12278	T	7	0.009854794	0.00221	T	0.001897	0.03351	T	0.010	0.01040	.	.	0.0297737177859	0.01360	1.492367004788712E-4	0.00012	.	.	0.472234934568	0.34987	T	.	.	.	-0.305642	0.08138	T	-0.67681	0.07180	T	0.0302767216235338	0.02032	T	0.807619	0.45757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28377	B	.;.	.;.	0.701192	0.10700	7.393	0.7859687701517204	0.12370	0.00224	0.01258	N	AEFBI	0.046021	0.07594	N	-1.07037780474094	0.07194	0.3334489	-1.266179450805	0.04896	0.2320322	1.15922054809651E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.360000	0.19987	-4.502000	0.02124	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.6539:0.0:0.3461:0.0	3.379	0.06826	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	.	.	.	.	.	.	.	.	0.05263	236.02	625	chr3	195782411	.	G	C	236.02	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.64;DP=7570;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.65;MQRankSum=-3.478;QD=0.19;ReadPosRankSum=-4.439;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,25:336:69:0|1:195782411_G_C:69,0,12753:195782411	17	0	2	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	41102.2	908	chr3	195782558	.	A	*	41102.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=1.27;DP=8955;ExcessHet=0;FS=0;InbreedingCoeff=0.7718;MLEAC=8;MLEAF=0.308;MQ=54.8;MQRankSum=-4.934;QD=12.17;ReadPosRankSum=1.41;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:50,99:277:99:1|0:195782507_G_C:5372,2091,8257:195782507	7	0	6	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2111.23	845	chr3	195782572	.	A	*	2111.23	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.65;DP=9235;ExcessHet=2.2993;FS=0;InbreedingCoeff=-0.2677;MLEAC=7;MLEAF=0.35;MQ=54.73;MQRankSum=-9.794;QD=0.84;ReadPosRankSum=-2.64;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,99:273:99:0|1:195782557_G_*:2916,0,9578:195782557	5	0	5	9
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15317.1	821	chr3	195782605	.	A	*	15317.1	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-1.5;DP=9299;ExcessHet=0.0001;FS=0.605;InbreedingCoeff=0.4242;MLEAC=8;MLEAF=0.333;MQ=53.4;MQRankSum=-2.794;QD=6.19;ReadPosRankSum=-1.596;SOR=0.643	GT:AD:DP:GQ:PL	0/1:88,99:237:99:3307,296,7220	6	0	6	7
chr3	195783018	195783020	AGC	0	exonic	MUC4	.	.	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6698.88	493	chr3	195783018	.	AGC	*	6698.88	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2;DP=8800;ExcessHet=0.3892;FS=0;InbreedingCoeff=0.0686;MLEAC=2;MLEAF=0.056;MQ=54.08;MQRankSum=9.63;QD=5.25;ReadPosRankSum=-1.705;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:365,71:437:99:.:.:842,0,13780:.	16	0	2	1
chr3	195783022	195783116	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6522.88	493	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*	6522.88	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.02;DP=8396;ExcessHet=0.3892;FS=0.53;InbreedingCoeff=0.0686;MLEAC=2;MLEAF=0.056;MQ=55.23;MQRankSum=6.95;QD=4.46;ReadPosRankSum=-1.243;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:365,71:437:99:.:.:842,0,13780:.	16	0	2	1
chr3	195783057	195783057	T	0	exonic	MUC4	.	.	.	.	0	207	1	0	18	19	0.00240964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1071	859.77	493	chr3	195783057	.	T	*	859.77	.	AC=3;AF=0.107;AN=28;BaseQRankSum=1.43;DP=8169;ExcessHet=0.8031;FS=0.56;InbreedingCoeff=-0.1091;MLEAC=4;MLEAF=0.143;MQ=55.83;MQRankSum=-6.533;QD=0.53;ReadPosRankSum=5.71;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:365,71:437:99:.:.:842,0,13780:.	11	0	3	5
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10805.8	355	chr3	195783068	.	G	*	10805.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=2.51;DP=7610;ExcessHet=1.4758;FS=5.085;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.22;MQRankSum=-10.42;QD=3.69;ReadPosRankSum=-2.88;SOR=1.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,70:309:99:0|1:195783068_G_*:1275,0,8683:195783068	8	0	4	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	10736.8	358	chr3	195783070	.	A	*	10736.8	.	AC=4;AF=0.167;AN=24;BaseQRankSum=3.79;DP=7581;ExcessHet=1.4758;FS=7.09;InbreedingCoeff=-0.1681;MLEAC=5;MLEAF=0.208;MQ=56.3;MQRankSum=-10.39;QD=3.64;ReadPosRankSum=-2.999;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,70:312:99:0|1:195783068_G_*:1275,0,8683:195783068	8	0	4	7
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	92777.8	319	chr3	195783084	.	A	*	92777.8	.	AC=4;AF=0.125;AN=32;BaseQRankSum=0.675;DP=7548;ExcessHet=0.007;FS=2.736;InbreedingCoeff=0.437;MLEAC=4;MLEAF=0.125;MQ=57.31;MQRankSum=7.15;QD=22.91;ReadPosRankSum=3.08;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:26,123:302:99:0|1:195783084_A_*:9084,4850,5645:195783084	12	0	4	3
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6977.18	326	chr3	195783086	.	A	*	6977.18	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.104;DP=7530;ExcessHet=3.5988;FS=4.05;InbreedingCoeff=-0.2453;MLEAC=7;MLEAF=0.25;MQ=57.15;MQRankSum=-9.801;QD=1.64;ReadPosRankSum=-1.832;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,123:304:99:0|1:195783068_G_*:3635,0,5670:195783068	8	0	6	5
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	108773.0	320	chr3	195783093	.	A	*	108773.0	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-2.349;DP=7624;ExcessHet=0.0275;FS=3.375;InbreedingCoeff=0.3644;MLEAC=5;MLEAF=0.179;MQ=57.42;MQRankSum=4.92;QD=23.07;ReadPosRankSum=3.47;SOR=0.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,123:298:99:0|1:195783084_A_*:9264,5002,5649:195783084	10	0	4	5
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	412.43	329	chr3	195783103	.	A	*	412.43	.	AC=5;AF=0.227;AN=22;BaseQRankSum=2.67;DP=7574;ExcessHet=5.3327;FS=6.335;InbreedingCoeff=-0.0965;MLEAC=7;MLEAF=0.318;MQ=57.66;MQRankSum=-9.084;QD=0.15;ReadPosRankSum=-0.959;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,124:291:99:0|1:195783068_G_*:3656,0,5474:195783068	6	0	5	8
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	329.52	321	chr3	195783105	.	C	*	329.52	.	AC=4;AF=0.154;AN=26;BaseQRankSum=4.36;DP=7378;ExcessHet=1.7113;FS=6.552;InbreedingCoeff=0.0048;MLEAC=5;MLEAF=0.192;MQ=57.33;MQRankSum=-7.859;QD=0.2;ReadPosRankSum=3.55;SOR=1.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,54:282:99:0|1:195783068_G_*:1515,0,7534:195783068	9	0	4	6
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27,MUC4:NM_001322468:exon6:c.6265_6266insG:p.S2089Cfs*110	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09375	2631.34	1686	chr3	195785314	.	A	AC	2631.34	.	AC=3;AF=0.094;AN=32;BaseQRankSum=1.56;DP=17159;ExcessHet=0.3672;FS=1.913;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.094;MQ=57.24;MQRankSum=-2.505;QD=1.25;ReadPosRankSum=1.93;SOR=0.789	GT:AD:DP:GQ:PL	0/1:571,52:623:99:333,0,21412	13	0	3	3
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	573736.0	1545	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	573736.0	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.84;DP=17971;ExcessHet=0;FS=0;InbreedingCoeff=0.6577;MLEAC=2;MLEAF=0.056;MQ=57.37;MQRankSum=-0.512;QD=26.8;ReadPosRankSum=0.165;SOR=0.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,47:621:99:.:.:25055,19236,22488:.	16	0	2	1
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	4502.91	22	chr3	195787579	.	G	*	4502.91	.	AC=11;AF=0.344;AN=32;DP=817;ExcessHet=0;FS=4.104;InbreedingCoeff=0.7912;MLEAC=13;MLEAF=0.406;MQ=51.17;QD=6.84;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,26:27:36:1|1:195787508_T_C:1125,36,0:195787508	10	5	1	3
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	3569.69	15	chr3	195787584	.	A	*	3569.69	.	AC=11;AF=0.423;AN=26;DP=792;ExcessHet=0;FS=5.111;InbreedingCoeff=0.6864;MLEAC=15;MLEAF=0.577;MQ=50.02;QD=5.6;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,26:27:36:1|1:195787508_T_C:1125,36,0:195787508	7	5	1	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	725.76	4	chr3	195787598	.	GCAT	*	725.76	.	AC=11;AF=0.344;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=14;MLEAF=0.438;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,26:27:36:1|1:195787508_T_C:1125,36,0:195787508	10	5	1	3
chr3	195787599	195787599	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787599	.	C	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,26:27:36:1|1:195787508_T_C:1125,36,0:195787508	4	8	1	6
chr3	195787600	195787600	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787600	.	A	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,26:27:36:1|1:195787508_T_C:1125,36,0:195787508	4	8	1	6
chr4	443038	443038	G	C	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.C1429G:p.Q477E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000448489632608	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1260573139	6.842e-06	1.3e-05	9.531e-06	4.127e-06	3.478e-05	3.46e-06	2.52e-06	9.24e-06	4.56e-06	0	2.237e-05	0	0	5.621e-05	0	2.699e-06	0	3.478e-05	6.577e-06	1.313e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.095	0.04716	N	3.2	0.07236	T	1.59	0.00660	N	0.085	0.15469	-0.9923	0.32012	T	0.007	0.02244	T	9	0.03588298	0.01858	T	4.48E-4	0.00107	T	0.010	0.01040	0.436	0.48828	0.0297737177859	0.01360	0.023733510322340532	0.02325	0.0150299860871	0.01430	0.257909834385	0.04645	T	1.41E-4	0.00020	T	-0.53848	0.00342	T	-0.842137	0.01067	T	0.0143588420002369	0.00288	T	0.717128	0.32987	T	0.02941972	0.02434	0.031573538	0.01765	0.02941972	0.02434	0.031573538	0.01765	2.728	0.00030	T	.	.	0.050	0.00145	B	.;.	.;.	-1.390028	0.00367	0.007	0.28286990665899414	0.01445	0.00000	0.00017	N	AEFDGBHCI	0.013455	0.00179	N	-2.47009730337398	0.00019	0.0008092529	-2.49880825969549	0.00023	0.001029596	0.88807391003443	0.25780	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	0.71	-1.42	0.08446	-2.199000	0.01323	.	.	-1.929000	0.00500	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5161:0.3089:0.175	5.761	0.17465	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1323.33	39	chr4	443038	.	G	C	1323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=709;ExcessHet=0;FS=4.255;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.73;MQRankSum=-0.924;QD=16.97;ReadPosRankSum=-0.911;SOR=0.652	GT:AD:DP:GQ:PL	0/1:37,41:78:99:1337,0,1035	18	0	1	0
chr4	654863	654863	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_001145292:exon4:c.G130A:p.G44S,PDE6B:NM_001350154:exon4:c.G130A:p.G44S,PDE6B:NM_001379246:exon4:c.G130A:p.G44S,PDE6B:NM_001379247:exon4:c.G130A:p.G44S,PDE6B:NM_000283:exon6:c.G967A:p.G323S,PDE6B:NM_001145291:exon6:c.G967A:p.G323S	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	892052	Congenital_stationary_night_blindness_autosomal_dominant_2|not_provided|Retinal_dystrophy|Retinitis_pigmentosa	MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215|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:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.431	0.0249782502675	.	0.00139776	0.0003	0	0	0.0037	0	4.518e-05	0	6.058e-05	0.0002846	44	154602	rs140224236	0.0001	0.0002	0.0002	0.0001	0.0044	0.0001	0.0001	0.0039	0.0037	6.13e-05	0	0	0.0044	0	0	1.87e-05	0.0002	4.688e-05	0.0002	0.0002	0.0002	0.0002	0.0041	0.0001	0.0001	0.0027	0.0023	0	0	0	0	0.0041	0	0	4.442e-05	0.0005	0.0002	0.059	0.59928	T	0.026	0.69154	D	0.674	0.42361	P	0.345	0.46961	B	0.000182	0.48115	D	0.179987	1	0.81001	D	1.855	0.49169	L	-0.22	0.74896	T	-3.62	0.83027	D	0.664	0.67477	-0.3312	0.74098	T	0.321	0.69021	T	10	0.01349321	0.00286	T	0.024978	0.47963	T	0.431	0.73735	.	.	0.895324698227	0.89429	0.5497008890001466	0.54896	0.497184019327	0.48212	0.786742091179	0.79946	T	0.724945	0.92255	D	-0.168495	0.25463	T	-0.0162803	0.69274	D	0.143936469913823	0.16609	T	0.928807	0.74365	D	0.26999554	0.50071	0.25338337	0.50985	0.26999554	0.50071	0.25338337	0.50984	-10.486	0.77157	D	.	.	0.146	0.48756	B	.;.;.;.	.;.;.;.	4.571351	0.72134	25.8	0.99811246689350919	0.89531	0.99409	0.95660	D	AEFBI	0.930427	0.91771	D	0.412700597148136	0.62118	4.422767	0.422077444512614	0.62943	4.518603	0.99999999985894	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.67	4.67	0.58089	9.605000	0.97771	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	15.468	0.75149	799	0.44747	.;GAF domain|GAF domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1470.33	38	chr4	654863	.	G	A	1470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.13;DP=1182;ExcessHet=0;FS=1.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.555;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,57:127:99:0|1:654854_G_A:1484,0,1835:654854	18	0	1	0
chr4	1380214	1380214	G	A	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon11:c.G1736A:p.R579H,UVSSA:NM_001317935:exon11:c.G1736A:p.R579H,UVSSA:NM_020894:exon11:c.G1736A:p.R579H	UV-sensitive syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.461865422825	.	.	3.556e-05	0	0	0.0001	0	4.842e-05	0	0	2.59e-05	4	154602	rs762685790	1.028e-05	1.163e-05	8.18e-06	1.24e-05	8.967e-05	6.17e-06	4.89e-06	2.376e-05	1.258e-05	8.967e-05	4.478e-05	0	0	0	0	8.099e-06	0	1.16e-05	4.599e-05	4.597e-05	3.853e-05	5.38e-05	0.0002	2.109e-05	1.527e-05	4.737e-05	3.052e-05	0.0001	0	0	0	0.0002	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	0.000003	0.62929	D	0.099386	0.999991	0.58761	D	2.98	0.85499	M	0.12	0.78645	T	-4.78	0.81985	D	0.868	0.86511	0.552	0.91264	D	0.683	0.89036	D	10	0.9649173	0.95956	D	0.461865	0.94527	D	0.722	0.90191	0.818	0.93195	0.620813946232	0.61774	0.5771072443821271	0.57639	0.122210248799	0.13767	0.688712954521	0.65521	T	0.50874	0.82589	D	0.0222467	0.54685	T	0.0308479	0.72333	D	0.953314960002899	0.63997	D	0.949405	0.80515	D	0.76000965	0.81453	0.5953921	0.76511	0.76000965	0.81455	0.5953921	0.76512	-11.282	0.81182	D	0.8628695844321808	0.92585	0.820	0.78250	P	.;.;.;.;.	.;.;.;.;.	5.781295	0.93525	33	0.99946730993656618	0.99913	0.96300	0.68467	D	AEFBI	0.747716	0.68968	D	0.725764836437161	0.81323	7.494904	0.631101123573498	0.77209	6.635702	0.999201348446486	0.38742	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.01	4.16	0.48138	6.984000	0.75959	11.632000	0.93711	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.1405:0.8595:0.0	15.346	0.74050	822	0.40702	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	752.33	39	chr4	1380214	.	G	A	752.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.709;SOR=0.66	GT:AD:DP:GQ:PL	0/1:37,28:65:99:766,0,931	18	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	153.78	40	chr4	3074927	.	G	*	153.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.204;DP=935;ExcessHet=2.0135;FS=2.431;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.19;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,18:39:99:.:.:675,0,1395:.	14	0	5	0
chr4	5801966	5801966	C	T	exonic	EVC	.	nonsynonymous SNV	EVC:NM_001306090:exon16:c.C2321T:p.A774V,EVC:NM_153717:exon16:c.C2321T:p.A774V	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrodental dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2116804	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0136015650185	.	.	3.317e-05	9.775e-05	0	0	0	4.518e-05	0	0	2.59e-05	4	154602	rs767144263	4.859e-05	4.857e-05	4.902e-05	4.814e-05	5.799e-05	3.927e-05	3.606e-05	4.438e-05	4.028e-05	2.988e-05	2.237e-05	0	0	0	0	5.576e-05	3.314e-05	5.799e-05	2.628e-05	2.627e-05	5.138e-05	0	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.008	0.58626	D	0.029	0.54541	D	0.003	0.11197	B	0.005	0.11217	B	0.009359	0.30401	N	0.306691	1	0.08975	N	2.565	0.75005	M	0.24	0.59583	T	-2.58	0.55662	D	0.266	0.30118	-0.9059	0.47343	T	0.153	0.48239	T	10	0.20072776	0.36130	T	0.013602	0.33126	T	0.056	0.15993	0.253	0.19223	0.557129077062	0.55373	0.20628153067692098	0.20545	.	.	0.301299452782	0.10595	T	0.400396	0.75798	T	-0.288348	0.09803	T	-0.469822	0.25534	T	0.355865806341171	0.27248	T	0.720928	0.33404	T	0.0699885	0.15379	0.10659333	0.25648	0.0699885	0.15379	0.10659333	0.25647	-3.866	0.21794	T	0.7064917870547098	0.78616	0.120	0.24633	B	.	.	3.151586	0.42666	21.6	0.98563485498798764	0.43012	0.45072	0.27457	N	AEFDBI	0.065662	0.12820	N	-0.537968035790677	0.20862	1.102986	-0.557016751560471	0.20619	1.111761	0.579104028873806	0.21556	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.82	1.97	0.25278	2.118000	0.41572	1.589000	0.27519	0.599000	0.40250	0.962000	0.33725	0.886000	0.27767	0.059000	0.15899	0.1622:0.6555:0.0:0.1822	5.321	0.15186	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	755.33	34	chr4	5801966	.	C	T	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.794;DP=921;ExcessHet=0;FS=2.159;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=1.07;SOR=0.464	GT:AD:DP:GQ:PL	0/1:26,33:59:99:769,0,584	18	0	1	0
chr4	6301953	6301953	A	G	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.A2158G:p.I720V,WFS1:NM_006005:exon8:c.A2158G:p.I720V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	141622	Monogenic_diabetes|WFS1-Related_Spectrum_Disorders|not_provided|not_specified|Wolfram_syndrome_1|Cataract_41|Autosomal_dominant_nonsyndromic_hearing_loss_6|Type_2_diabetes_mellitus|Wolfram-like_syndrome|Diabetes_mellitus	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN239410|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590|Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.433	.	0.0003	0.014976	0.0074	0.0001	0	0.0599	0.0186	0.0027	0.0219	0.0029	0.0065394	1011	154602	rs1805070	0.0036	0.0036	0.0036	0.0036	0.0698	0.0035	0.0035	0.0676	0.0667	8.962e-05	0.0001	0.0011	0.0698	0.0224	0.0010	0.0006	0.0060	0.0027	0.0045	0.0045	0.0032	0.0059	0.0642	0.0042	0.0041	0.0585	0.0563	9.619e-05	0	0.0003	0.0006	0.0642	0.0203	0	0.0013	0.0038	0.0052	0.201	0.20306	T	0.224	0.25591	T	0.004	0.12183	B	0.014	0.16862	B	0.000003	0.62929	N	0.100429	0.740196	0.33814	D	1.39	0.34934	L	-4.15	0.96798	D	-0.57	0.17210	N	0.186	0.20262	-0.2873	0.75340	T	0.280	0.65149	T	10	0.0034231544	0.00060	T	.	.	.	0.433	0.73879	.	.	0.92911295316	0.92838	0.5829553482745569	0.58224	.	.	0.468299537897	0.34447	T	0.145148	0.48213	T	-0.211243	0.19203	T	-0.0119817	0.69556	D	0.0144258577593717	0.00291	T	0.813919	0.46746	T	0.035162937	0.04086	0.0638598	0.12712	0.04181572	0.06228	0.05910474	0.11036	-3.417	0.15286	T	0.15401895742049693	0.18365	0.068	0.03026	B	.;.	.;.	1.359349	0.17679	13.31	0.96611758788161461	0.30445	0.93496	0.58375	D	AEFDBI	0.494324	0.53017	N	-0.349017230391587	0.27307	1.497231	-0.236204943316298	0.30249	1.701557	0.0881872003004449	0.16054	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	0.341	0.15229	3.912000	0.56099	0.906000	0.22588	0.653000	0.53440	1.000000	0.71638	0.453000	0.24963	0.946000	0.48989	0.7098:0.0:0.2902:0.0	8.843	0.34310	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1815.33	165	chr4	6301953	.	A	G	1815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.576;DP=2015;ExcessHet=0;FS=3.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.783;SOR=0.551	GT:AD:DP:GQ:PL	0/1:66,74:140:99:1829,0,1768	18	0	1	0
chr4	9210852	9210852	G	T	exonic	USP17L10	.	stopgain	USP17L10:NM_001256852:exon1:c.G196T:p.E66X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs370796842	4.654e-05	0.0018	1.579e-05	7.621e-05	0.0006	2.679e-05	2.057e-05	0.0002	0.0001	0	0	0	0.0006	0	0	4.219e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.860432	0.08899	U	0.889113	0.994777	0.81001	N	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185535	0.72552	D	0.0287322	0.72195	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	3.647222	0.51748	23.1	0.98758829053807906	0.45785	0.20073	0.20904	N	AEFI	0.055651	0.10223	N	0.174833157836009	0.49992	3.193744	-0.247014208612486	0.29873	1.677308	1.67667411561021E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.035000	0.13685	.	.	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	2.0E-4:0.0:0.9998:0.0	6.567	0.21715	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	33.09	.	chr4	9210852	.	G	T	33.09	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=332;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=24.91;MQRankSum=0.967;QD=11.03;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:15:40,0,15	8	0	1	10
chr4	9243884	9243884	G	C	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.G6C:p.E2D	.	490	1019	13	0	0	13	0.00633837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.785207235613	.	.	0.0034	0	0.0099	0	0	0.0046	0	0	0.0004657	72	154602	rs746198002	0.0020	0.0075	0.0020	0.0019	0.0022	0.0019	0.0019	0.0021	0.0021	0.0004	0.0018	0.0038	0	0.0027	0.0019	0.0022	0.0015	0.0005	0.0003	0.0015	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	9.674e-05	0	0.0003	0	0	0.0002	0	0.0004	0	0	0.123	0.27544	T	0.315	0.22627	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.69	0.12268	T	0.15	0.05310	N	0.15	0.15328	-0.9454	0.41748	T	0.021	0.08963	T	6	0.03258398	0.01413	T	0.785207	0.98310	D	0.018	0.03083	0.246	0.18139	0.0401082797425	0.02173	0.020831925818852563	0.02036	.	.	0.541121840477	0.44603	T	0.00744	0.06846	T	-0.62805	0.00098	T	-0.66782	0.07749	T	0.00538380027744191	0.00058	T	0.390461	0.09684	T	0.08194392	0.18854	0.09321036	0.22005	0.08194392	0.18853	0.09321036	0.22004	-3.994	0.23714	T	.	.	0.121	0.25133	B	.;.	.;.	0.735441	0.11045	7.701	0.96409607182053592	0.29720	0.01105	0.04049	N	AEFI	0.030943	0.03210	N	-0.870095447995878	0.11559	0.558448	-1.05359465695228	0.08632	0.4253761	1.14241020842926E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.094000	0.14946	.	.	0.304000	0.19002	0.121000	0.23193	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009499	0.021277	0.016194	0.000000	0.000000	0.000000	0.000000	0.005495	0.05263	268.83	629	chr4	9243884	.	G	C	268.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.67;DP=9206;ExcessHet=0.119;FS=2.95;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=35.01;MQRankSum=0.925;QD=0.22;ReadPosRankSum=-0.137;SOR=0.37	GT:AD:DP:GQ:PL	0/1:378,53:431:43:43,0,10067	17	0	2	0
chr4	10087915	10087915	T	C	exonic	WDR1	.	nonsynonymous SNV	WDR1:NM_005112:exon5:c.A323G:p.H108R,WDR1:NM_017491:exon8:c.A743G:p.H248R	.	425	1049	46	2	0	50	0.0232775	.	.	.	1154593	Lazy_leukocyte_syndrome|not_provided	MONDO:MONDO:0007883,MedGen:C0272174,OMIM:150550,Orphanet:652522|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0048	0.00678914	0.0124	0.0022	0.0056	0	0.0167	0.0109	0.02	0.0185	0.0050452	780	154602	rs41268387	0.0070	0.0070	0.0066	0.0075	0.0216	0.0069	0.0069	0.0185	0.0173	0.0010	0.0034	0.0088	0.0001	0.0166	0.0216	0.0063	0.0064	0.0167	0.0053	0.0053	0.0048	0.0057	0.0168	0.0050	0.0048	0.0138	0.0127	0.0013	0	0.0035	0.0098	0.0010	0.0168	0.0204	0.0056	0.0047	0.0168	0.817	0.08534	T	0.554	0.24334	T	0.0	0.07471	B	0.002	0.06944	B	0.000190	0.48115	N	0.182612	0.99051	0.41175	D	0.09	0.08384	N	0.23	0.59717	T	0.92	0.05125	N	0.361	0.40565	-1.0858	0.06263	T	0.060	0.25237	T	10	0.0067503154	0.00153	T	.	.	.	0.067	0.19503	.	.	0.218628672733	0.21463	0.31849216096257105	0.31762	0.507810000154	0.48961	0.509267151356	0.40119	T	0.076434	0.35419	T	-0.45722	0.01023	T	-0.415916	0.31544	T	0.00694049655315045	0.00079	T	0.781022	0.45098	T	0.114508115	0.27032	0.09213647	0.21697	0.114508115	0.27032	0.09213647	0.21697	-5.521	0.42064	T	.	.	0.081	0.15430	B	.;.;.;.	.;.;.;.	2.535099	0.32784	19.15	0.91713494636780124	0.21009	0.95272	0.64079	D	AEFBCI	0.666365	0.63485	D	-0.392156960646774	0.25748	1.400014	-0.167274809422776	0.32748	1.866268	0.999999980427769	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.64	4.46	0.53567	4.560000	0.60512	2.236000	0.31572	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.996000	0.76049	0.0:0.074:0.0:0.926	10.835	0.45886	784	0.47045	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016293	0.000000	0.017906	0.038235	0.000000	0.008621	0.012422	0.007692	0.05263	4029.83	34	chr4	10087915	.	T	C	4029.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.188;DP=950;ExcessHet=0.119;FS=0.393;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.882;SOR=0.648	GT:AD:DP:GQ:PL	0/1:83,66:149:99:1612,0,2174	17	0	2	0
chr4	17633765	17633765	G	T	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon17:c.C3013A:p.P1005T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	0.00638978	0.0025	0.0251	0	0	0	0	0.0041	0	0.000718	111	154602	rs61741415	0.0006	0.0005	0.0006	0.0005	0.0198	0.0005	0.0005	0.0185	0.0180	0.0198	0.0015	3.971e-05	0	0	0.0012	6.488e-06	0.0015	2.525e-05	0.0060	0.0060	0.0063	0.0057	0.0207	0.0057	0.0055	0.0195	0.0191	0.0207	0	0.0024	0	0	0	0	8.82e-05	0.0052	0.0002	0.096	0.31088	T	0.741	0.04965	T	0.884	0.48618	P	0.54	0.48825	P	0.006431	0.32040	N	0.304356	0.502456	0.31714	N	1.745	0.45235	L	1.14	0.38397	T	-3.45	0.67589	D	0.143	0.14338	-0.9027	0.47705	T	0.055	0.23300	T	10	0.004603654	0.00096	T	.	.	.	0.049	0.13647	.	.	0.101711395817	0.09552	0.20801400943861192	0.20717	.	.	0.529324233532	0.42939	T	0.287868	0.66067	T	-0.522749	0.00424	T	-0.507413	0.21581	T	0.0435420173909338	0.04337	T	0.621638	0.23898	T	0.18518077	0.39869	0.17391366	0.39751	0.18518077	0.39869	0.17391366	0.39750	-4.16	0.26170	T	.	.	0.125	0.26451	B	.	.	2.384590	0.30617	18.49	0.98939030044196652	0.48902	0.68668	0.33889	D	AEFDBI	0.043719	0.06945	N	0.141755494703456	0.48421	3.054674	0.182828284367549	0.48905	3.100439	0.929723972875027	0.26979	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.43	4.59	0.56297	2.335000	0.43588	11.744000	0.95258	-0.105000	0.15698	0.993000	0.37899	1.000000	0.68203	0.951000	0.49849	0.0:0.0:0.6304:0.3696	12.222	0.53749	661	0.61838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001208	0.000000	0.000000	0.004348	0.000000	0.000000	0.000000	0.000000	0.02632	1163.33	33	chr4	17633765	.	G	T	1163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.659;DP=741;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.35;SOR=0.787	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1177,0,1089	18	0	1	0
chr4	26481792	26481792	C	T	exonic	CCKAR	.	nonsynonymous SNV	CCKAR:NM_000730:exon5:c.G1133A:p.R378H	.	315	1205	2	0	0	2	0.000829187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.117258391812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	2.865	0.83145	M	0.34	0.58176	T	-4.6	0.78976	D	0.945	0.95256	-0.2872	0.75343	T	0.346	0.71060	T	10	0.973677	0.97053	D	0.117258	0.79698	D	0.635	0.86027	0.848	0.95084	0.711180351677	0.70865	0.9348165022051695	0.93461	0.813825509068	0.66852	0.719319283962	0.69947	T	0.747933	0.93070	D	0.200139	0.73904	D	0.049709	0.73564	D	0.999215364456177	0.96570	D	0.946705	0.79569	D	0.7401936	0.80303	0.54057866	0.73448	0.7401936	0.80305	0.54057866	0.73449	-9.421	0.70367	D	.	.	0.708	0.73293	P	.	.	5.599562	0.92448	32	0.99948980619868766	0.99931	0.97744	0.76819	D	AEFDBI	0.910433	0.86834	D	0.737300940057996	0.82075	7.674065	0.686699940710809	0.81367	7.51033	0.99999999999205	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.41	4.57	0.55860	7.834000	0.84963	7.652000	0.63756	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9273:0.0:0.0727	14.102	0.64590	887	0.27948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1578.33	59	chr4	26481792	.	C	T	1578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.205;DP=870;ExcessHet=0;FS=15.934;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.112;SOR=1.702	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1592,0,1603	18	0	1	0
chr4	40354085	40354085	C	A	exonic	CHRNA9	.	nonsynonymous SNV	CHRNA9:NM_017581:exon5:c.C1005A:p.H335Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	.	7.7e-05	0.00439297	0.0028	9.612e-05	8.637e-05	0.0027	0	8.991e-05	0.0033	0.0187	0.0024579	380	154602	rs200543085	0.0012	0.0012	0.0007	0.0017	0.0184	0.0012	0.0011	0.0176	0.0173	8.961e-05	8.944e-05	0	0.0014	0	0.0002	2.968e-05	0.0016	0.0184	0.0008	0.0008	0.0005	0.0012	0.0207	0.0007	0.0007	0.0174	0.0162	0.0001	0	6.537e-05	0	0.0031	0	0	0.0001	0	0.0207	0.497	0.07821	T	0.587	0.08302	T	0.001	0.07471	B	0.002	0.06944	B	0.010258	0.30003	N	0.431667	0.996306	0.43129	D	0.435	0.12660	N	-1.91	0.84701	D	-1.19	0.30346	N	0.031	0.00770	-0.5660	0.66173	T	0.354	0.71728	T	10	0.011682123	0.00254	T	.	.	.	0.203	0.48915	0.299	0.26522	0.884440965958	0.88330	0.35682375276498274	0.35596	0.065084757058	0.07269	0.255490064621	0.04368	T	0.173628	0.52256	T	-0.483807	0.00703	T	-0.453452	0.27315	T	0.0135835750892417	0.00251	T	0.365463	0.08501	T	0.14545335	0.33341	0.08862785	0.20676	0.14545335	0.33341	0.08862785	0.20676	-2.908	0.09223	T	.	.	0.092	0.13597	B	.	.	0.837922	0.12098	8.648	0.96313951011915377	0.29390	0.36982	0.25658	N	AEFDBI	0.231350	0.35459	N	-0.362949575091242	0.26800	1.465403	-0.176586999996762	0.32400	1.842929	0.869846398938082	0.25393	0.497415	0.19182	0	0.547309	0.14657	0	0.612816	0.40813	0	0.542086	0.14980	0	.	.	5.72	4.84	0.62125	-0.114000	0.10729	0.574000	0.19636	0.599000	0.40250	0.258000	0.24929	0.085000	0.22446	0.794000	0.37478	0.1054:0.7384:0.1562:0.0	12.947	0.57774	814	0.42100	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2038.33	35	chr4	40354085	.	C	A	2038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.216;DP=994;ExcessHet=0;FS=2.299;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=1.28;SOR=0.509	GT:AD:DP:GQ:PL	0/1:56,77:133:99:2052,0,1474	18	0	1	0
chr4	68655133	68655133	G	A	exonic	UGT2B15	.	nonsynonymous SNV	UGT2B15:NM_001076:exon4:c.C1055T:p.T352I	.	428	1080	13	1	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.0122603512082	0.0022	0.00319489	0.0036	0.0007	0.0008	0.0001	0.0012	0.0040	0.0044	0.0085	0.0034993	541	154602	rs148583958	0.0042	0.0043	0.0040	0.0044	0.0092	0.0041	0.0041	0.0086	0.0084	0.0004	0.0019	0.0007	0	0.0012	0.0051	0.0044	0.0039	0.0092	0.0029	0.0029	0.0024	0.0034	0.0112	0.0026	0.0026	0.0088	0.0080	0.0005	0	0.0030	0.0023	0.0002	0.0005	0	0.0043	0.0033	0.0112	0.022	0.48642	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	0.528353	0.31954	D	3.41	0.91792	M	-0.19	0.65931	T	-5.83	0.88361	D	0.595	0.61426	-0.0907	0.80312	T	0.328	0.69589	T	10	0.029805511	0.01107	T	0.01226	0.30673	T	0.389	0.70521	.	.	0.739250118084	0.73691	0.3489616763953976	0.34810	0.159855645627	0.18038	0.531564950943	0.43255	T	0.125632	0.45147	T	-0.296996	0.08946	T	-0.194404	0.55176	T	0.0538535720832315	0.06164	T	0.925507	0.72634	D	0.79608405	0.83657	0.4849404	0.70186	0.79608405	0.83659	0.4849404	0.70187	-9.17	0.68785	D	.	.	0.470	0.63171	A	.	.	3.799319	0.54735	23.5	0.99846306690567688	0.92576	0.90590	0.51892	D	AEFDGBIJ	0.776452	0.70956	D	0.417574039395309	0.62387	4.453953	0.24909980984466	0.52600	3.433636	0.999999514429661	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.57	2.57	0.29928	4.647000	0.61115	.	.	0.671000	0.69459	1.000000	0.71638	0.990000	0.31317	0.038000	0.14061	0.0:0.0:1.0:0.0	10.831	0.45865	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005959	0.005051	0.001359	0.000000	0.000000	0.000000	0.009202	0.018939	0.02632	1473.33	34	chr4	68655133	.	G	A	1473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.836;DP=764;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.2;MQRankSum=1.9;QD=10.91;ReadPosRankSum=-0.724;SOR=0.794	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1487,0,1876	18	0	1	0
chr4	72147028	72147028	C	T	exonic	NPFFR2	.	nonsynonymous SNV	NPFFR2:NM_004885:exon4:c.C479T:p.A160V,NPFFR2:NM_053036:exon4:c.C479T:p.A160V,NPFFR2:NM_001144756:exon5:c.C488T:p.A163V	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0273809494167	7.7e-05	0.000199681	0.0003	9.641e-05	0.0007	0	0	0.0004	0	0.0001	0.0003169	49	154602	rs201155248	0.0003	0.0003	0.0003	0.0004	0.0165	0.0003	0.0003	0.0138	0.0128	0.0002	0.0008	0.0025	0	0.0001	0.0165	0.0002	0.0007	0.0002	0.0003	0.0003	0.0003	0.0004	0.0008	0.0003	0.0002	0.0005	0.0004	0.0001	0	0.0008	0.0009	0	0	0.0170	0.0003	0.0038	0	0.031	0.45039	D	0.116	0.36497	T	0.946	0.56202	P	0.718	0.54779	P	0.000030	0.55875	D	0.000000	1	0.81001	D	2.71	0.79292	M	1.04	0.40218	T	-3.49	0.68056	D	0.715	0.71765	-0.6781	0.61460	T	0.230	0.59521	T	10	0.28600973	0.46183	T	0.027381	0.50196	D	0.383	0.70029	.	.	0.599832994901	0.59664	0.9070966354525973	0.90682	0.216282985703	0.24154	0.459649205208	0.33262	T	0.118168	0.43878	T	-0.171724	0.24974	T	-0.112182	0.62437	T	0.157708734273911	0.17700	T	0.871513	0.57764	D	0.32570082	0.55116	0.25961912	0.51713	0.32570082	0.55116	0.25961912	0.51712	-9.16	0.68721	D	.	.	0.257	0.49127	B	.;.;.	.;.;.	3.504348	0.49049	22.7	0.99877167723932536	0.95410	0.98828	0.87388	D	AEFI	0.907409	0.86141	D	0.571565994287012	0.71404	5.645801	0.53391602446316	0.70288	5.483028	0.999999953067997	0.74766	0.553676	0.25195	0	0.624306	0.53593	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	7.779000	0.84281	3.121000	0.36400	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.003000	0.05239	0.0:1.0:0.0:0.0	19.678	0.95940	774	0.48577	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	0.012588	0.000000	0.014946	0.035088	0.000000	0.017241	0.003049	0.000000	0.02632	1836.33	33	chr4	72147028	.	C	T	1836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.276;DP=754;ExcessHet=0;FS=6.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.035;SOR=1.196	GT:AD:DP:GQ:PL	0/1:72,68:140:99:1850,0,1845	18	0	1	0
chr4	76741720	76741720	C	T	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon5:c.C3547T:p.R1183W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00745707599219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.13e-07	4.788e-06	1.408e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.718e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.022	0.57587	D	0.072	0.23997	B	0.008	0.13708	B	0.403603	0.04549	N	1.415430	1	0.08975	N	2.67	0.78151	M	1.89	0.23688	T	-0.99	0.26200	N	0.248	0.28028	-0.9701	0.37179	T	0.059	0.24575	T	10	0.07696858	0.12089	T	0.007457	0.19792	T	0.056	0.15993	0.27	0.21893	0.273495378476	0.26946	0.25086407044291753	0.25000	0.329912800313	0.35087	0.619096755981	0.55602	T	0.081955	0.36717	T	-0.211767	0.19130	T	-0.541965	0.18105	T	0.153738304972649	0.17398	T	0.877212	0.59013	D	0.0433919	0.06755	0.039589424	0.04085	0.0433919	0.06755	0.039589424	0.04085	-4.634	0.32596	T	.	.	0.086	0.16319	B	.;.	.;.	2.239808	0.28600	17.85	0.99691066890488922	0.79909	0.04841	0.10572	N	AEFDBI	0.113766	0.22434	N	-0.990161426795719	0.08813	0.4146716	-1.14283472580968	0.06897	0.3335945	0.999999002071498	0.74766	0.700653	0.57754	0	0.610034	0.51514	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.34	-5.08	0.02708	-0.776000	0.04780	-0.678000	0.07901	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5079:0.1936:0.172:0.1266	3.398	0.06890	591	0.68823	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1189.33	38	chr4	76741720	.	C	T	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.61;DP=803;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.628;SOR=0.699	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1203,0,1059	18	0	1	0
chr4	80274953	80274953	C	T	exonic	FGF5	.	stopgain	FGF5:NM_004464:exon2:c.C400T:p.R134X	Trichomegaly, Autosomal recessive	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	8.305e-05	9.699e-05	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs201539600	5.045e-05	5.131e-05	4.403e-05	5.693e-05	0.0009	4.101e-05	3.772e-05	0.0003	0.0002	0	0.0001	0	5.123e-05	0	0.0009	4.445e-05	3.344e-05	0.0001	4.607e-05	5.909e-05	5.149e-05	4.039e-05	0.0002	2.112e-05	1.529e-05	1.918e-05	1.032e-05	7.235e-05	0	6.554e-05	0.0003	0.0002	0	0.0034	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000002	0.62929	D	0.058700	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.932	0.93723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460244	0.92936	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.987951	0.99488	44	0.99769439094524903	0.85750	0.92356	0.55522	D	AEFDBI	0.115712	0.22740	N	0.911684965634348	0.92320	11.35653	0.79994817156133	0.89790	10.12222	0.999999999381138	0.74766	0.648238	0.45900	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	5.483000	0.66561	4.880000	0.45656	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.715	0.96105	791	0.46100	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3197.33	34	chr4	80274953	.	C	T	3197.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=890;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.62;SOR=0.725	GT:AD:DP:GQ:PL	0/1:112,138:250:99:3211,0,2286	18	0	1	0
chr4	83284595	83284595	C	G	exonic	COQ2	.	nonsynonymous SNV	COQ2:NM_001358921:exon1:c.G170C:p.S57T,COQ2:NM_015697:exon1:c.G320C:p.S107T	Coenzyme Q10 deficiency, primary, 1, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	.	549913	COQ2-related_disorder|not_specified|Coenzyme_Q10_deficiency,_primary,_1|not_provided	.|MedGen:CN169374|MONDO:MONDO:0011829,MedGen:C3551954,OMIM:607426,Orphanet:255249|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.843565336733	.	0.000199681	0.0012	0	0	0	0	0.0031	0.0072	0.0001	0.0005304	82	154602	rs550949678	0.0010	0.0010	0.0010	0.0010	0.0063	0.0009	0.0009	0.0046	0.0041	0.0009	0.0022	0.0050	0	0.0001	0.0063	0.0009	0.0023	8.91e-05	0.0010	0.0010	0.0010	0.0010	0.0028	0.0009	0.0008	0.0021	0.0019	0.0003	0	0.0028	0.0060	0	0	0	0.0010	0.0033	0.0002	0.139	0.27904	T	0.28	0.22828	T	0.671	0.41189	P	0.107	0.31211	B	0.000053	0.53742	D	0.180545	0.999002	0.45857	D	.	.	.	-1.12	0.77593	T	-0.94	0.25118	N	0.5	0.72835	-0.5780	0.65696	T	0.293	0.66508	T	10	0.0127670765	0.00273	T	0.843565	0.98791	D	0.261	0.57352	.	.	0.843218408993	0.84172	0.45118818275583905	0.45036	0.314366465134	0.33721	0.823191761971	0.85517	D	0.082652	0.36877	T	-0.423935	0.01615	T	-0.379256	0.35809	T	0.108678089042021	0.13286	T	0.621038	0.23867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15788	B	.;.;.	.;.;.	2.024864	0.25732	16.87	0.87410022446757152	0.17207	0.63814	0.32207	D	ALL	0.342438	0.43859	N	-0.163996714250332	0.34642	1.979735	-0.219296149736526	0.30844	1.740237	1.0	0.98316	0.441713	0.08003	0	0.093493	0.02558	3	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.59	3.59	0.40253	4.045000	0.57081	2.339000	0.32242	0.547000	0.25779	1.000000	0.71638	0.994000	0.32194	0.008000	0.08271	0.0:1.0:0.0:0.0	11.000	0.46812	606	0.67383	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011470	0.000000	0.020891	0.006024	0.000000	0.018182	0.003247	0.000000	0.02632	1024.33	50	chr4	83284595	.	C	G	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.579;DP=854;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=-1.163;SOR=0.678	GT:AD:DP:GQ:PL	0/1:24,36:60:99:1038,0,608	18	0	1	0
chr4	85972140	85972140	C	T	exonic	ARHGAP24	.	nonsynonymous SNV	ARHGAP24:NM_001346093:exon3:c.C125T:p.A42V,ARHGAP24:NM_031305:exon3:c.C425T:p.A142V,ARHGAP24:NM_001042669:exon4:c.C419T:p.A140V,ARHGAP24:NM_001287805:exon4:c.C449T:p.A150V,ARHGAP24:NM_001025616:exon6:c.C704T:p.A235V	.	411	1109	1	1	0	3	0.00135074	.	.	.	3282742	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.190	0.0203155919161	.	.	7.43e-05	0	0	0	0	3.003e-05	0	0.0004	5.82e-05	9	154602	rs760970265	4.242e-05	4.241e-05	2.859e-05	5.638e-05	0.0006	3.377e-05	3.065e-05	0.0005	0.0004	2.987e-05	2.236e-05	0	2.519e-05	0	0	4.497e-06	6.623e-05	0.0006	5.933e-05	5.916e-05	7.726e-05	4.052e-05	0.0005	3.086e-05	2.217e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0	0.0005	0	0.002	0.78490	D	0.008	0.72224	D	0.907	0.59675	P	0.665	0.61001	P	0.000060	0.53742	D	0.169713	1	0.81001	D	1.315	0.32790	L	0.95	0.43279	T	-3.2	0.66206	D	0.697	0.70175	-0.8404	0.52620	T	0.203	0.56073	T	10	0.35636705	0.52377	T	0.020316	0.42890	T	0.190	0.46781	0.57	0.69299	0.660676212287	0.65783	0.35592191526004957	0.35506	0.381722051695	0.39521	0.743844091892	0.73539	T	0.164641	0.51018	T	-0.165473	0.25922	T	-0.126035	0.61303	T	0.392708957195282	0.28667	T	0.988564	0.96090	D	0.436703	0.63189	0.4725988	0.69426	0.436703	0.63189	0.4725988	0.69427	-12.443	0.86942	D	.	.	0.548	0.67564	A	.;.;.;.;.;.	.;.;.;.;.;.	4.256745	0.64661	24.7	0.99797405919036553	0.88283	0.98589	0.84429	D	AEFBI	0.908430	0.86373	D	0.608431182495738	0.73706	6.010331	0.643035414532747	0.78095	6.807407	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.772000	0.84213	4.748000	0.44643	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	19.351	0.94373	445	0.79730	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	989.33	33	chr4	85972140	.	C	T	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.691;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.026;SOR=0.624	GT:AD:DP:GQ:PL	0/1:35,42:77:99:1003,0,861	18	0	1	0
chr4	87615731	87615731	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,15:15:96:1|1:87615730_ATAG_A:1401,96,0:87615730	1	11	7	0
chr4	87615740	87615740	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	108.23	38	chr4	87615740	.	C	*	108.23	.	AC=19;AF=0.5;AN=38;DP=820;ExcessHet=0.0541;FS=13.908;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=58.19;QD=0.43;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,15:15:97:1|1:87615730_ATAG_A:1401,97,0:87615730	7	7	5	0
chr4	87615746	87615746	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,15:15:97:1|1:87615730_ATAG_A:1401,97,0:87615730	7	7	5	0
chr4	87615749	87615767	CAGCAGTGACAGCAGCGAT	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	1015	436	27	4	40	75	0.0385888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1003.04	32	chr4	87615749	.	CAGCAGTGACAGCAGCGAT	*	1003.04	.	AC=13;AF=0.5;AN=26;BaseQRankSum=2.3;DP=810;ExcessHet=2.7716;FS=0.432;InbreedingCoeff=-0.3684;MLEAC=16;MLEAF=0.615;MQ=58.37;MQRankSum=-2.137;QD=3.37;ReadPosRankSum=0.68;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,15:15:54:.:.:760,54,0:.	2	2	9	6
chr4	88504356	88504356	G	A	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon21:c.G2707A:p.E903K	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0126514632592	0.0020	0.000798722	0.0019	0.0005	0.0005	0	0.0008	0.0030	0.0011	0.0008	0.0019728	305	154602	rs141622783	0.0027	0.0027	0.0028	0.0026	0.0033	0.0026	0.0026	0.0033	0.0032	0.0003	0.0004	7.675e-05	0	0.0007	0.0007	0.0033	0.0017	0.0009	0.0016	0.0016	0.0016	0.0015	0.0029	0.0014	0.0013	0.0026	0.0024	0.0006	0	0.0004	0	0	0.0004	0	0.0029	0.0014	0.0008	0.174	0.31088	T	0.1	0.42086	T	0.61	0.39628	P	0.206	0.37138	B	0.170900	0.17378	N	0.441650	0.959862	0.26169	N	3.085	0.87354	M	0.39	0.57419	T	-2.14	0.55181	N	0.3	0.33904	-0.8192	0.53984	T	0.154	0.48412	T	10	0.017840087	0.00383	T	0.012651	0.31409	T	0.245	0.55201	.	.	0.657455092868	0.65459	0.7232464949343388	0.72268	0.227251636705	0.25277	0.363119006157	0.19840	T	0.051207	0.28814	T	-0.34942	0.04763	T	-0.273603	0.47456	T	0.0678192026261492	0.08343	T	0.750625	0.37241	T	0.13662615	0.31665	0.17004263	0.39084	0.13662615	0.31664	0.17004263	0.39083	-5.882	0.45281	T	.	.	0.077	0.07507	B	.;.	.;.	2.651460	0.34524	19.65	0.99788184362064047	0.87396	0.21696	0.21492	N	AEFGBI	0.147614	0.27133	N	-0.112810100842337	0.36834	2.134538	-0.181212302979921	0.32228	1.831442	0.997681446676739	0.35903	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.62	4.62	0.56946	0.291000	0.18748	5.789000	0.49856	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.193000	0.21690	0.0:0.0:1.0:0.0	14.995	0.71081	835	0.38313	HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	2346.33	33	chr4	88504356	.	G	A	2346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=843;ExcessHet=0;FS=3.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.577;SOR=0.483	GT:AD:DP:GQ:PL	0/1:93,94:187:99:2360,0,2115	18	0	1	0
chr4	88704237	88704237	A	T	exonic	HERC3	.	nonsynonymous SNV	HERC3:NM_001375477:exon22:c.A2419T:p.M807L,HERC3:NM_001375481:exon22:c.A2257T:p.M753L,HERC3:NM_001271602:exon23:c.A2443T:p.M815L,HERC3:NM_001375478:exon23:c.A2773T:p.M925L,HERC3:NM_001375482:exon23:c.A2773T:p.M925L,HERC3:NM_001375479:exon24:c.A2773T:p.M925L,HERC3:NM_001375480:exon24:c.A2794T:p.M932L,HERC3:NM_001375483:exon24:c.A2773T:p.M925L,HERC3:NM_014606:exon24:c.A2797T:p.M933L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0153411246528	0.0033	0.00119808	0.0020	0.0007	0.0003	0	0.0008	0.0034	0	0.0002	0.0024644	381	154602	rs61750820	0.0046	0.0046	0.0048	0.0045	0.0058	0.0045	0.0045	0.0057	0.0057	0.0004	0.0005	0	0	0.0008	0.0002	0.0058	0.0026	0.0003	0.0028	0.0028	0.0029	0.0026	0.0054	0.0025	0.0025	0.0049	0.0047	0.0010	0	0.0005	0	0	0.0003	0	0.0054	0.0005	0.0006	0.175	0.22400	T	0.35	0.17478	T	0.997	0.70673	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.325	0.03546	N	0.98	0.42122	T	-1.26	0.31778	N	0.549	0.57690	-1.0370	0.18233	T	0.075	0.30179	T	10	0.011879921	0.00258	T	0.015341	0.36015	T	0.319	0.64112	0.63	0.76588	0.551732665033	0.54831	0.7594565624804365	0.75893	1.42206919977	0.85631	0.664188981056	0.62009	T	0.027449	0.20098	T	-0.170803	0.25112	T	-0.0101617	0.69674	D	0.0453315118011441	0.04662	T	0.952805	0.82030	D	0.35361192	0.57346	0.30972826	0.56986	0.35361192	0.57347	0.30972826	0.56985	-7.063	0.54493	T	.	.	0.277	0.51059	B	.;.	.;.	4.131010	0.61814	24.4	0.95716628151126648	0.27633	0.99110	0.91373	D	AEFBI	0.887435	0.81968	D	0.362733286092775	0.59415	4.120735	0.45771118800367	0.65214	4.795532	0.999999999972303	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	9.325000	0.96006	9.082000	0.78719	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.353	0.74119	780	0.47616	HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1417.33	34	chr4	88704237	.	A	T	1417.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=721;ExcessHet=0;FS=3.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.565;SOR=1.078	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1431,0,1039	18	0	1	0
chr4	100189895	100189895	C	T	exonic	DDIT4L	.	nonsynonymous SNV	DDIT4L:NM_145244:exon2:c.G89A:p.S30N	.	.	.	.	.	.	.	.	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00233408938224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.06935	T	0.476	0.12037	T	0.0	0.02946	B	0.0	0.01387	B	0.015925	0.28113	N	0.378995	0.973828	0.25525	N	-1.355	0.00654	N	0.96	0.42888	T	-0.58	0.17417	N	0.079	0.05414	-1.0411	0.16981	T	0.032	0.13811	T	10	0.06280911	0.08088	T	0.002334	0.04507	T	0.056	0.15993	0.379	0.39482	0.259272394797	0.25527	0.12480316716165732	0.12406	0.0271791063544	0.02775	0.383204579353	0.22710	T	0.007647	0.07043	T	-0.356961	0.04305	T	-0.750526	0.03465	T	0.197885617613792	0.20298	T	0.569643	0.20265	T	0.043557044	0.06808	0.047739666	0.06941	0.043557044	0.06808	0.047739666	0.06940	-4.093	0.25187	T	.	.	0.062	0.01512	B	.;.;.	.;.;.	1.655822	0.21119	15.06	0.82727913258902963	0.14343	0.13390	0.17829	N	AEFDBCI	0.046201	0.07644	N	-0.663555998014116	0.17066	0.8750554	-0.481866937319825	0.22652	1.23149	0.999609441028911	0.40866	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.41	1.34	0.21018	0.110000	0.15273	0.612000	0.20040	0.599000	0.40250	0.990000	0.36992	0.224000	0.23735	0.873000	0.41610	0.0:0.38:0.3472:0.2728	3.971	0.08945	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	.	.	.	.	.	.	.	.	0.02632	1192.33	33	chr4	100189895	.	C	T	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.63;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.268;SOR=0.744	GT:AD:DP:GQ:PL	0/1:40,54:94:99:1206,0,918	18	0	1	0
chr4	104491304	104491304	-	GCTGCCGCC	exonic	CXXC4	.	nonframeshift insertion	CXXC4:NM_025212:exon2:c.498_499insGGCGGCAGC:p.S166_R167insGGS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.989e-07	6.841e-07	0	1.406e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.702e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	541.29	42	chr4	104491304	.	T	TGCTGCCGCC	541.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.633;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=0.764;SOR=0.77	GT:AD:DP:GQ:PL	0/1:14,15:29:99:555,0,476	18	0	1	0
chr4	108165124	108165124	C	T	exonic	LEF1	.	nonsynonymous SNV	LEF1:NM_001130713:exon2:c.G253A:p.D85N,LEF1:NM_001130714:exon2:c.G253A:p.D85N,LEF1:NM_001166119:exon2:c.G49A:p.D17N,LEF1:NM_016269:exon2:c.G253A:p.D85N	Sebaceous tumors, somatic (3)	432	1045	42	3	0	48	0.0224509	.	.	.	698331	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.486	.	0.0052	0.00579073	0.0084	0.0018	0.0110	0.0021	0.0103	0.0077	0.0066	0.0161	0.00815	1260	154602	rs61752607	0.0086	0.0086	0.0084	0.0087	0.0167	0.0085	0.0084	0.0160	0.0157	0.0018	0.0098	0.0014	0.0070	0.0095	0.0099	0.0083	0.0085	0.0167	0.0062	0.0063	0.0065	0.0059	0.0123	0.0059	0.0058	0.0098	0.0089	0.0018	0.0121	0.0088	0.0006	0.0027	0.0087	0.0068	0.0079	0.0104	0.0123	0.301	0.78490	T	0.258	0.64786	T	0.165	0.49442	B	0.028	0.37187	B	0.000000	0.84330	D	0.049443	0.994903	0.43008	D	1.385	0.34509	L	-5.56	0.99392	D	-2.18	0.55662	N	0.536	0.61002	0.801	0.94421	D	0.883	0.96129	D	10	0.010001779	0.00224	T	.	.	.	0.486	0.77464	.	.	0.802756854265	0.80091	0.26479490399013794	0.26392	0.279026521573	0.30382	0.602982640266	0.53325	T	0.495556	0.81823	T	-0.262121	0.12654	T	-0.136322	0.60436	T	0.0226908288392035	0.00987	T	0.981302	0.95706	D	0.21579985	0.44022	0.3188588	0.57851	0.21579985	0.44022	0.3188588	0.57850	-4.164	0.31356	T	.	.	0.104	0.24294	B	.;.;.;.;.;.	.;.;.;.;.;.	4.467721	0.69589	25.4	0.99902625920476185	0.97426	0.97734	0.76747	D	AEFDBI	0.791559	0.72011	D	0.268939013737371	0.54580	3.623	0.409850153705389	0.62176	4.428918	0.999999999997982	0.74766	0.625279	0.40028	0	0.60822	0.50512	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	5.399000	0.66059	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.069	0.97712	943	0.12886	CTNNB1 binding, N-teminal;.;.;.;CTNNB1 binding, N-teminal;CTNNB1 binding, N-teminal	.	.	.	.	.	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	0.008569	0.010101	0.012228	0.008824	0.050000	0.017241	0.006098	0.015152	0.02632	967.33	34	chr4	108165124	.	C	T	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.345;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.335;SOR=0.655	GT:AD:DP:GQ:PL	0/1:44,43:87:99:981,0,1034	18	0	1	0
chr4	109844159	109844159	G	A	exonic	RRH	.	nonsynonymous SNV	RRH:NM_006583:exon7:c.G976A:p.D326N	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	0.0045	0.00319489	0.0038	0.0005	0.0055	0	0.0009	0.0056	0.0077	0.0001	0.0039327	608	154602	rs144856430	0.0054	0.0054	0.0055	0.0052	0.0069	0.0053	0.0052	0.0063	0.0062	0.0008	0.0069	0.0012	0	0.0010	0.0019	0.0063	0.0057	9.278e-05	0.0044	0.0044	0.0044	0.0045	0.0117	0.0042	0.0040	0.0103	0.0098	0.0011	0	0.0117	0.0009	0	0.0008	0.0034	0.0062	0.0057	0.0002	0.475	0.08359	T	0.639	0.06992	T	0.0	0.02946	B	0.001	0.04355	B	0.033981	0.01780	N	2.486670	0.605369	0.32574	D	1.1	0.28011	L	1.26	0.36330	T	0.6	0.02518	N	0.042	0.01498	-1.0046	0.28577	T	0.053	0.22617	T	10	0.00325796	0.00056	T	.	.	.	0.148	0.39182	.	.	0.42828666871	0.42450	0.6450264407993006	0.64437	0.0240129519137	0.02436	0.322860658169	0.13855	T	0.015326	0.12876	T	-0.669609	0.00055	T	-0.730619	0.04300	T	0.00972666445201905	0.00127	T	0.657134	0.26688	T	0.030601827	0.02753	0.030692099	0.01557	0.030601827	0.02752	0.030692099	0.01557	-2.97	0.09861	T	.	.	0.082	0.08560	B	.	.	2.246033	0.28689	17.88	0.7761830606590705	0.11951	0.73200	0.35809	D	AEFI	0.116212	0.22816	N	-0.439012079605759	0.24114	1.299779	-0.290848757559635	0.28399	1.583171	0.00812204511013033	0.11615	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	3.96	0.45097	5.064000	0.64169	3.415000	0.38214	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.6596:0.0:0.3404:0.0	4.682	0.12124	691	0.58815	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.020202	0.014946	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1352.33	35	chr4	109844159	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.628;DP=743;ExcessHet=0;FS=1.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.178;SOR=0.579	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1366,0,863	18	0	1	0
chr4	112278361	112278361	G	A	exonic	TIFA	.	nonsynonymous SNV	TIFA:NM_052864:exon2:c.C56T:p.T19M	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	.	0.0108	0.0113818	0.0032	0.0337	0.0019	0.0001	0	0.0003	0	0.0002	0.0030077	465	154602	rs6834237	0.0010	0.0010	0.0011	0.0009	0.0313	0.0009	0.0009	0.0297	0.0291	0.0313	0.0022	0	2.523e-05	0	0.0051	8.672e-05	0.0026	7.098e-05	0.0094	0.0094	0.0098	0.0090	0.0322	0.0090	0.0088	0.0307	0.0302	0.0322	0	0.0033	0	0.0002	0	0.0034	0.0003	0.0100	0.0002	0.011	0.55530	D	0.006	0.70582	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.62929	D	0.097241	0.999431	0.47043	D	2.75	0.80375	M	0.81	0.48460	T	-3.21	0.64826	D	0.229	0.29889	-0.6714	0.61765	T	0.145	0.46786	T	10	0.0067516863	0.00153	T	.	.	.	0.211	0.50185	.	.	0.724680275035	0.72224	0.6335347604182903	0.63287	1.18544460508	0.80128	0.505062520504	0.39533	T	0.197802	0.55458	T	-0.400934	0.02283	T	-0.324316	0.42100	T	0.0295651626667107	0.01922	T	0.835117	0.50455	T	0.23997004	0.46894	0.1895631	0.42310	0.23997004	0.46894	0.1895631	0.42310	-5.982	0.46129	T	.	.	0.107	0.20235	B	.;.	.;.	4.601672	0.72891	25.9	0.99913413061629464	0.98238	0.89611	0.50186	D	AEFDGBCI	0.418177	0.48591	N	0.7543497403034	0.83187	7.952312	0.740233992652113	0.85425	8.57691	0.999999999573468	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	3.947000	0.56362	7.406000	0.58608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	20.334	0.98733	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.014946	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	737.33	37	chr4	112278361	.	G	A	737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.335;SOR=0.6	GT:AD:DP:GQ:PL	0/1:45,30:75:99:751,0,1151	18	0	1	0
chr4	119256334	119256334	A	G	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon6:c.A461G:p.K154R,USP53:NM_001371397:exon6:c.A461G:p.K154R,USP53:NM_001371399:exon6:c.A461G:p.K154R,USP53:NM_001371398:exon7:c.A461G:p.K154R,USP53:NM_019050:exon7:c.A461G:p.K154R,USP53:NM_001371395:exon8:c.A461G:p.K154R	.	439	1062	18	3	0	24	0.0111732	.	.	.	2103584	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.354	0.0126248131803	0.0011	0.00239617	0.0020	0.0002	0.0020	0.0002	0.0003	0.0013	0.0056	0.0078	0.0019922	308	154602	rs61736682	0.0019	0.0019	0.0016	0.0021	0.0076	0.0018	0.0018	0.0071	0.0069	0.0004	0.0017	0.0006	0.0001	0.0002	0.0040	0.0016	0.0021	0.0076	0.0011	0.0012	0.0009	0.0014	0.0056	0.0010	0.0010	0.0039	0.0034	0.0003	0	0.0029	0	0.0002	0.0003	0.0102	0.0011	0.0024	0.0056	0.035	0.43708	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.997474	0.43918	D	1.95	0.52479	M	3.46	0.05249	T	-2.62	0.56301	D	0.803	0.80964	-1.1769	0.00417	T	0.050	0.21378	T	10	0.025051028	0.00712	T	0.012625	0.31353	T	0.354	0.67510	.	.	0.69033799254	0.68767	0.5029245270469038	0.50214	0.554734309268	0.52204	0.741073608398	0.73131	T	0.066471	0.32955	T	-0.267715	0.12012	T	-0.153186	0.58960	T	0.0251293542542769	0.01290	T	0.935406	0.75832	D	0.3369419	0.56035	0.37806222	0.62892	0.3369419	0.56035	0.37806222	0.62892	-9.576	0.71331	D	0.5955656123590426	0.66244	0.293	0.52459	B	.;.	.;.	4.788932	0.77693	26.8	0.998821011568918	0.95813	0.99256	0.93532	D	AEFBI	0.875797	0.79942	D	0.746605719785329	0.82682	7.823556	0.75212881491673	0.86316	8.850223	0.999942378791536	0.47345	0.706548	0.73137	0	0.588015	0.36545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	9.181000	0.94000	11.049000	0.85275	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.781	0.78035	538	0.73119	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.000000	0.02632	880.33	33	chr4	119256334	.	A	G	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.865;DP=683;ExcessHet=0;FS=4.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.379;SOR=1.204	GT:AD:DP:GQ:PL	0/1:33,39:72:99:894,0,899	18	0	1	0
chr4	137530243	137530243	G	A	exonic	PCDH18	.	nonsynonymous SNV	PCDH18:NM_001300828:exon1:c.C1846T:p.L616F,PCDH18:NM_019035:exon1:c.C1846T:p.L616F	.	422	1065	33	2	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0053	0.00499201	0.0046	0.0080	0.0029	0	0.0014	0.0039	0.0066	0.0100	0.004379	677	154602	rs74512322	0.0047	0.0047	0.0045	0.0050	0.0205	0.0046	0.0046	0.0175	0.0163	0.0085	0.0028	0.0034	0	0.0010	0.0205	0.0045	0.0055	0.0104	0.0045	0.0045	0.0048	0.0043	0.0104	0.0042	0.0041	0.0081	0.0073	0.0064	0.0033	0.0022	0.0017	0	0.0010	0.0306	0.0043	0.0099	0.0104	0.051	0.39334	T	0.028	0.55341	D	0.003	0.23653	B	0.019	0.36391	B	0.026242	0.25951	N	0.184300	0.997932	0.81001	D	1.995	0.54099	M	0.61	0.53516	T	-3.5	0.68178	D	0.285	0.41162	-0.7214	0.59394	T	0.170	0.51101	T	10	0.01097846	0.00242	T	.	.	.	0.159	0.41286	.	.	0.635465298753	0.63247	0.6266247032032225	0.62595	0.128549610524	0.14494	0.497563928366	0.38489	T	0.284	0.65687	T	-0.474932	0.00792	T	-0.447021	0.28026	T	0.0418836800110794	0.04033	T	0.876612	0.58915	D	0.29476544	0.52432	0.28233165	0.54221	0.29476544	0.52432	0.28233165	0.54220	-6.488	0.50194	T	.	.	0.169	0.48156	B	.;.;.	.;.;.	3.206075	0.43621	21.8	0.99352932025997598	0.60656	0.87495	0.47053	D	AEFBHCI	.	.	.	0.0827075386403198	0.45657	2.818593	0.187786125238016	0.49178	3.124076	0.999999994461327	0.74766	0.627647	0.40530	0	0.588015	0.36545	0	0.672317	0.60874	0	0.567892	0.33627	0	.	.	5.8	4.95	0.64894	1.977000	0.40211	8.427000	0.77162	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0736:0.0:0.9264:0.0	13.982	0.63823	986	0.02773	Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.020202	0.010870	0.014620	0.050000	0.025862	0.012195	0.003788	0.07895	10495.8	33	chr4	137530243	.	G	A	10495.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.184;DP=1355;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.135;SOR=0.701	GT:AD:DP:GQ:PL	0/1:124,113:237:99:2919,0,3433	16	0	3	0
chr4	151147938	151147938	A	G	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001128924:exon4:c.T1118C:p.L373P,SH3D19:NM_001378128:exon10:c.T1226C:p.L409P,SH3D19:NM_001378131:exon10:c.T1226C:p.L409P,SH3D19:NM_001009555:exon11:c.T1226C:p.L409P,SH3D19:NM_001128923:exon11:c.T1226C:p.L409P,SH3D19:NM_001243349:exon11:c.T1226C:p.L409P,SH3D19:NM_001378121:exon11:c.T2066C:p.L689P,SH3D19:NM_001378122:exon11:c.T2066C:p.L689P,SH3D19:NM_001378126:exon11:c.T1226C:p.L409P,SH3D19:NM_001378127:exon11:c.T1226C:p.L409P,SH3D19:NM_001378130:exon11:c.T1226C:p.L409P,SH3D19:NM_001378124:exon12:c.T1889C:p.L630P,SH3D19:NM_001378129:exon12:c.T1226C:p.L409P,SH3D19:NM_001378123:exon13:c.T1889C:p.L630P	.	437	1079	6	0	0	6	0.00277264	.	.	.	3199848	SH3D19-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.464	.	0.0006	0.0255591	0.0137	0.0012	0.0946	0.0536	0	0.0003	0.0079	0.0018	0.0128976	1994	154602	rs78397848	0.0048	0.0048	0.0052	0.0043	0.0831	0.0047	0.0046	0.0809	0.0800	0.0010	0.0831	0.0009	0.0660	1.874e-05	0.0017	0.0001	0.0049	0.0025	0.0093	0.0093	0.0077	0.0109	0.0638	0.0089	0.0087	0.0605	0.0592	0.0020	0	0.0638	0.0012	0.0578	0	0	0.0003	0.0057	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.916	0.50672	P	0.636	0.51948	P	0.410403	0.13004	N	0.640308	4.23628e-11	0.58761	P	2.485	0.72352	M	-1.39	0.80387	T	-3.75	0.74661	D	0.676	0.83678	-0.5355	0.67334	T	0.054	0.23034	T	9	0.010321617	0.00230	T	.	.	.	0.464	0.76023	.	.	.	.	0.5556463954193352	0.55491	0.631323549782	0.57095	0.621222496033	0.55902	T	0.309736	0.68174	T	-0.0153823	0.49507	T	0.279881	0.87121	D	0.0464229472110277	0.04861	T	0.872113	0.61284	D	0.7620676	0.81575	0.75503224	0.85522	0.7620676	0.81577	0.75503224	0.85523	-5.189	0.88098	T	.	.	0.971	0.89510	P	.;.;.;.;.;.	.;.;.;.;.;.	4.630760	0.73628	26.0	0.9989045637046472	0.96436	0.97687	0.76416	D	AEFBI	0.893724	0.83198	D	0.525854408803516	0.68622	5.242823	0.546660981267886	0.71165	5.613513	0.991753199793551	0.32597	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	6.381000	0.73094	11.210000	0.89365	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	14.931	0.70561	614	0.66605	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	546.33	37	chr4	151147938	.	A	G	546.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.282;DP=698;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.398;SOR=0.965	GT:AD:DP:GQ:PL	0/1:35,23:58:99:560,0,992	18	0	1	0
chr4	168275458	168275458	C	T	exonic	DDX60	.	nonsynonymous SNV	DDX60:NM_017631:exon16:c.G2191A:p.V731I	.	432	1081	6	3	0	12	0.00551978	.	.	.	2820259	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.0144953495856	0.0041	0.000599042	0.0039	0.0011	0.0054	0	0.0055	0.0048	0.0067	0.0027	0.0037904	586	154602	rs17853802	0.0046	0.0046	0.0045	0.0046	0.0051	0.0045	0.0044	0.0050	0.0049	0.0006	0.0045	0.0009	2.524e-05	0.0057	0.0023	0.0051	0.0037	0.0029	0.0040	0.0040	0.0040	0.0040	0.0068	0.0037	0.0036	0.0063	0.0061	0.0007	0	0.0032	0.0009	0	0.0048	0	0.0068	0.0043	0.0017	0.43	0.09543	T	0.493	0.11443	T	0.018	0.17786	B	0.015	0.17295	B	0.078053	0.21067	N	0.440664	0.999975	0.18612	N	0.39	0.12200	N	2.4	0.15608	T	-0.43	0.14390	N	0.069	0.04188	-0.9938	0.31617	T	0.017	0.06950	T	10	0.0035449564	0.00064	T	0.014495	0.34657	T	0.011	0.01250	.	.	0.137902524267	0.13322	0.12448782424348202	0.12374	0.131275834207	0.14802	0.24141561985	0.02919	T	0.003285	0.02687	T	-0.742999	0.00020	T	-0.828366	0.01291	T	4.27490194851998e-05	0.00000	T	0.493251	0.15238	T	0.02144217	0.00746	0.025741957	0.00631	0.02144217	0.00746	0.025741957	0.00630	-4.076	0.24935	T	.	.	0.079	0.07507	B	.	.	-1.262852	0.00471	0.010	0.47691831979692767	0.03920	0.01546	0.05073	N	AEFGBI	0.025664	0.01796	N	-1.40475498097985	0.02597	0.1148803	-1.41741239736317	0.03078	0.1428674	0.559684569556126	0.21403	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.37	-1.82	0.07433	-2.766000	0.00852	-9.926000	0.00760	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4141:0.1966:0.3893	6.829	0.23081	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	971.33	34	chr4	168275458	.	C	T	971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.768;SOR=0.757	GT:AD:DP:GQ:PL	0/1:46,43:89:99:985,0,1173	18	0	1	0
chr4	176683966	176683966	C	T	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon7:c.G1220A:p.R407H	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00864073040337	.	.	4.141e-05	0.0001	0	0.0001	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs776421656	4.378e-05	4.378e-05	4.084e-05	4.675e-05	0.0002	3.509e-05	3.193e-05	7.123e-05	5.481e-05	0.0001	0	0	5.039e-05	0	0.0002	3.867e-05	3.312e-05	0.0001	4.599e-05	4.596e-05	2.569e-05	6.725e-05	7.238e-05	2.109e-05	1.527e-05	1.972e-05	1.124e-05	7.238e-05	0	0	0	0	0	0	5.879e-05	0	0	.	.	.	0.114	0.36765	T	0.877	0.48223	P	0.139	0.33484	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	.	.	.	.	.	.	0.327	0.36779	-0.7765	0.56498	T	0.156	0.48841	T	9	0.3295274	0.50204	T	0.008641	0.22829	T	.	.	.	.	0.332902724076	0.32905	0.550696865296671	0.54995	.	.	0.599817633629	0.52878	T	0.354833	0.72193	T	-0.128771	0.31694	T	-0.186078	0.55957	T	0.349131281526967	0.26985	T	0.913009	0.68959	D	0.36047047	0.57871	0.2196709	0.46714	0.36047047	0.57872	0.2196709	0.46713	-6.843	0.52878	T	.	.	0.114	0.22753	B	.	.	3.634251	0.51500	23.1	0.99859539471104919	0.93820	0.88286	0.48145	D	AEFBCI	0.627449	0.60990	D	0.342994399856481	0.58371	4.008866	0.416882294863327	0.62617	4.480065	0.999999903235599	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.57	5.57	0.84021	5.343000	0.65746	3.328000	0.37603	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:1.0:0.0:0.0	19.922	0.97094	939	0.14249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1234.33	33	chr4	176683966	.	C	T	1234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=742;ExcessHet=0;FS=10.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.285;SOR=0.974	GT:AD:DP:GQ:PL	0/1:62,52:114:99:1248,0,1474	18	0	1	0
chr4	177362292	177362292	G	T	exonic	NEIL3	.	nonsynonymous SNV	NEIL3:NM_018248:exon10:c.G1639T:p.A547S	.	436	1082	4	0	0	4	0.00184502	.	.	.	2820286	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.379	0.041363763725	0.0038	0.00159744	0.0035	0.0011	0.0020	0	0.0015	0.0055	0.0045	6.682e-05	0.0034476	533	154602	rs36005630	0.0049	0.0049	0.0050	0.0048	0.0060	0.0048	0.0048	0.0058	0.0058	0.0010	0.0022	7.908e-05	2.542e-05	0.0021	0.0034	0.0060	0.0042	8.482e-05	0.0030	0.0030	0.0035	0.0025	0.0054	0.0028	0.0027	0.0049	0.0047	0.0008	0.0044	0.0022	0	0	0.0017	0.0136	0.0054	0.0028	0.0002	0.011	0.55530	D	0.01	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.61	0.76335	M	1.8	0.25344	T	-1.4	0.34596	N	0.552	0.57775	-0.8701	0.50522	T	0.116	0.41120	T	10	0.014539331	0.00306	T	0.041364	0.59888	D	0.379	0.69696	.	.	0.498830998431	0.49518	0.32259066869747194	0.32172	0.570982421097	0.53242	0.566270709038	0.48152	T	0.068972	0.33593	T	-0.361487	0.04046	T	-0.285771	0.46209	T	0.033225995942482	0.02508	T	0.893711	0.63166	D	0.65656847	0.75715	0.41561836	0.65670	0.65656847	0.75716	0.41561836	0.65671	-7.185	0.55373	T	.	.	0.230	0.46214	B	.	.	4.631241	0.73641	26.0	0.9970892665413007	0.81213	0.98880	0.88090	D	AEFDBI	0.888430	0.82154	D	0.675755343885018	0.78042	6.792921	0.621898073340892	0.76533	6.508625	0.999999860680663	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	5.16	4.31	0.50718	9.719000	0.97996	11.852000	0.98107	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:0.8586:0.1414	15.285	0.73524	896	0.25515	Zinc finger, GRF-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	0.005035	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	943.33	33	chr4	177362292	.	G	T	943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.167;DP=679;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.286;SOR=0.56	GT:AD:DP:GQ:PL	0/1:26,36:62:99:957,0,696	18	0	1	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	1715.13	137	chr4	189957425	.	A	G	1715.13	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.209;DP=2042;ExcessHet=2.9153;FS=2.505;InbreedingCoeff=-0.2471;MLEAC=7;MLEAF=0.194;MQ=46.97;MQRankSum=-1.588;QD=2.23;ReadPosRankSum=-0.709;SOR=0.94	GT:AD:DP:GQ:PL	0/1:62,10:72:33:33,0,1736	11	0	7	1
chr5	5464420	5464420	C	A	exonic	ICE1	.	nonsynonymous SNV	ICE1:NM_015325:exon13:c.C5086A:p.P1696T	.	418	1084	19	1	0	21	0.00959342	.	.	.	699115	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00696914659558	0.0019	0.00159744	0.0016	0.0039	0.0009	0	0.0002	0.0013	0.0023	0.0035	0.0015006	232	154602	rs201780270	0.0010	0.0010	0.0009	0.0011	0.0097	0.0010	0.0010	0.0077	0.0069	0.0058	0.0010	0.0070	0	7.493e-05	0.0097	0.0006	0.0020	0.0030	0.0023	0.0023	0.0022	0.0023	0.0050	0.0021	0.0020	0.0045	0.0043	0.0050	0	0.0029	0.0075	0.0002	0.0002	0.0068	0.0006	0.0028	0.0019	0.306	0.14207	T	0.751	0.04790	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	2.84	0.10674	T	-0.95	0.25332	N	0.018	0.00252	-0.9285	0.44357	T	0.008	0.02801	T	9	0.0038103461	0.00071	T	0.006969	0.18458	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.11298806026524169	0.11226	0.104874384788	0.11861	0.278141140938	0.07234	T	0.014733	0.12488	T	-0.713136	0.00030	T	-0.795089	0.02028	T	0.000480072017607736	0.00004	T	0.682432	0.29103	T	0.022594998	0.00933	0.033577852	0.02276	0.022594998	0.00933	0.033577852	0.02276	-4.271	0.27768	T	.	.	0.076	0.05800	B	.	.	0.066843	0.04764	1.383	0.46320027297151689	0.03701	0.03164	0.08136	N	AEFGBI	0.021940	0.01037	N	-1.39993683557654	0.02640	0.1168466	-1.39235374901299	0.03333	0.1552532	0.997232817439051	0.35404	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	-1.79	0.07504	0.940000	0.28589	0.027000	0.13676	-0.257000	0.07002	0.001000	0.13787	0.000000	0.08366	0.043000	0.14563	0.4909:0.1542:0.2591:0.0957	3.059	0.05819	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.005051	0.006793	0.011696	0.000000	0.000000	0.003049	0.003788	0.02632	1864.33	94	chr5	5464420	.	C	A	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.499;DP=1291;ExcessHet=0;FS=0.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.283;SOR=0.643	GT:AD:DP:GQ:PL	0/1:94,79:173:99:1878,0,2579	18	0	1	0
chr5	17655153	17655153	C	T	exonic	H3Y1	.	nonsynonymous SNV	H3Y1:NM_001355258:exon1:c.G386A:p.R129H	.	933	584	5	0	0	5	0.00426257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	.	.	.	.	.	.	.	.	0.0058399	152	26028	rs139670564	0.0078	0.0062	0.0075	0.0080	0.0101	0.0075	0.0074	0.0082	0.0080	0.0008	0.0059	0.0041	0	0.0141	0.0101	0.0085	0.0053	0.0100	0.0058	0.0058	0.0058	0.0058	0.0115	0.0055	0.0053	0.0091	0.0082	0.0007	0	0.0036	0.0014	0	0.0146	0.0068	0.0083	0.0052	0.0115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011746377	0.00255	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.923508	0.72088	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.49769	B	.	.	1.646546	0.21009	15.01	0.89699310346711458	0.19023	0.51438	0.28895	D	AEFDGI	.	.	.	.	.	.	.	.	.	0.0413807614660387	0.14481	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.103547	0.22722	0.547	-0.473	0.11508	4.108000	0.57555	-0.502000	0.08796	-0.251000	0.07141	1.000000	0.71638	0.002000	0.18203	0.053000	0.15439	0.3309:0.669:0.0:0.0	5.332	0.15246	986	0.02773	Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	442.83	33	chr5	17655153	.	C	T	442.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.53;DP=486;ExcessHet=0.119;FS=1.198;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.49;MQRankSum=0.402;QD=9.42;ReadPosRankSum=-0.485;SOR=1.029	GT:AD:DP:GQ:PL	0/1:18,5:23:99:99,0,491	17	0	2	0
chr5	53483680	53483680	G	C	exonic	FST	.	nonsynonymous SNV	FST:NM_006350:exon3:c.G454C:p.E152Q,FST:NM_013409:exon3:c.G454C:p.E152Q	.	425	1080	16	1	0	18	0.00826446	.	.	.	721476	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	0.0241769684911	0.0059	0.00179712	0.0045	0.0008	0.0010	0	0.0089	0.0067	0.0033	0.0007	0.0043919	679	154602	rs11745088	0.0056	0.0056	0.0058	0.0055	0.0063	0.0055	0.0055	0.0062	0.0062	0.0005	0.0015	0.0051	2.519e-05	0.0110	0.0061	0.0063	0.0052	0.0006	0.0043	0.0043	0.0044	0.0041	0.0063	0.0040	0.0039	0.0058	0.0056	0.0006	0	0.0021	0.0052	0.0002	0.0119	0.0136	0.0063	0.0043	0.0002	0.464	0.09514	T	0.37	0.16473	T	0.348	0.33602	B	0.147	0.34014	B	0.000000	0.84330	D	0.047074	0.999996	0.58761	D	-0.465	0.02725	N	3.71	0.04046	T	0.13	0.05503	N	0.286	0.32370	-0.7316	0.58882	T	0.007	0.02399	T	10	0.0072375834	0.00165	T	0.024177	0.47165	T	0.249	0.55752	.	.	0.514671000977	0.51109	0.4039563713797913	0.40311	1.09766738397	0.77629	0.51988941431	0.41611	T	0.202543	0.56075	T	-0.506073	0.00528	T	-0.494869	0.22882	T	0.0576691014953399	0.06797	T	0.784922	0.77539	T	0.41348022	0.61655	0.35712525	0.61211	0.41348022	0.61656	0.35712525	0.61211	-3.422	0.15395	T	.	.	0.1	0.17146	B	.;.;.	.;.;.	3.520150	0.49340	22.8	0.98722578926768989	0.45230	0.99252	0.93473	D	AEFDBCI	0.960724	0.98167	D	0.0491711700034256	0.44105	2.690619	0.280021017350146	0.54374	3.602582	1.0	0.98316	0.660085	0.49399	0	0.563428	0.19063	0	0.662677	0.59975	0	0.530356	0.10902	0	.	.	5.76	5.76	0.90726	9.757000	0.98114	9.862000	0.82064	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.970	0.97283	852	0.35056	Kazal domain|Kazal domain|Kazal domain;.;Kazal domain|Kazal domain|Kazal 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	0.010101	0.006793	0.011696	0.000000	0.000000	0.006098	0.007576	0.05263	2404.83	33	chr5	53483680	.	G	C	2404.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.68;DP=802;ExcessHet=0.119;FS=2.456;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.576;SOR=0.88	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1441,0,1232	17	0	2	0
chr5	60603566	60603566	A	G	exonic	DEPDC1B	.	nonsynonymous SNV	DEPDC1B:NM_001145208:exon9:c.T1067C:p.M356T,DEPDC1B:NM_018369:exon9:c.T1067C:p.M356T	.	.	.	.	.	.	.	.	0.0584	0.266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0555907273999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.609	0.39586	P	0.119	0.32162	B	0.000000	0.84330	D	0.036985	1	0.81001	D	2.455	0.71248	M	1.01	0.41058	T	-4.35	0.77061	D	0.919	0.92200	-0.8849	0.49365	T	0.129	0.43767	T	9	0.7507193	0.75617	D	0.055591	0.66293	D	0.361	0.68141	0.442	0.49811	0.757653053903	0.75545	0.6838780957182191	0.68326	0.256720259627	0.28242	0.752918839455	0.74878	T	0.479888	0.80911	T	0.261294	0.79649	D	0.137554	0.79385	D	0.983119308948517	0.74903	D	0.819018	0.49341	T	0.7051757	0.78341	0.7716519	0.86520	0.7051757	0.78342	0.7716519	0.86521	-9.674	0.74466	D	.	.	0.639	0.70478	P	.;.	.;.	4.107910	0.61310	24.3	0.98345020452911924	0.40477	0.99383	0.95317	D	AEFGBI	0.928474	0.91275	D	0.356782722530896	0.59098	4.086598	0.420136077589213	0.62819	4.504128	0.999999937926433	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	8.650000	0.90829	11.033000	0.85085	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	1.0:0.0:0.0:0.0	15.348	0.74073	566	0.70798	Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	257.33	34	chr5	60603566	.	A	G	257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.739;DP=648;ExcessHet=0;FS=1.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.141;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,11:21:99:0|1:60603566_A_G:271,0,225:60603566	18	0	1	0
chr5	61332354	61332354	A	0	exonic	ZSWIM6	.	.	.	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	747.6	28	chr5	61332354	.	A	*	747.6	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.396;DP=479;ExcessHet=0.0101;FS=0.986;InbreedingCoeff=0.4351;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.496;SOR=0.551	GT:AD:DP:GQ:PL	0/1:7,10:17:99:403,0,252	18	0	1	0
chr5	77636984	77636984	G	A	exonic	OTP	.	nonsynonymous SNV	OTP:NM_032109:exon2:c.C284T:p.A95V	.	430	1073	18	1	0	20	0.00923361	.	.	.	2827850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.189	0.041481411508	0.0038	0.00239617	0.0057	0.0005	0.0040	0	0.0011	0.0075	0.0055	0.0073	0.0052263	808	154602	rs148662448	0.0052	0.0052	0.0050	0.0054	0.0146	0.0051	0.0050	0.0121	0.0111	0.0008	0.0041	0.0229	2.519e-05	0.0007	0.0146	0.0051	0.0058	0.0067	0.0039	0.0039	0.0042	0.0037	0.0055	0.0037	0.0036	0.0051	0.0049	0.0012	0	0.0040	0.0222	0	0.0004	0.0068	0.0055	0.0062	0.0041	0.044	0.41096	D	0.265	0.22694	T	0.164	0.28467	B	0.027	0.21085	B	0.777347	0.06633	N	1.125700	0.87462	0.35629	D	0	0.06538	N	-3.77	0.95595	D	-0.89	0.24026	N	0.259	0.29313	-0.2946	0.75136	T	0.614	0.86334	D	10	0.0064309537	0.00146	T	0.041481	0.59948	D	0.189	0.46613	.	.	0.44573540394	0.44196	0.27040516834635187	0.26953	0.857873265978	0.68834	0.600927710533	0.53035	T	0.082963	0.36947	T	-0.286225	0.10017	T	-0.179914	0.56531	T	0.0161223072741637	0.00389	T	0.711029	0.32195	T	0.18169217	0.39352	0.22694777	0.47689	0.18169217	0.39351	0.22694777	0.47688	-5.655	0.43291	T	.	.	0.087	0.11220	B	.	.	3.078151	0.41403	21.3	0.99834735827239218	0.91628	0.96602	0.69965	D	AEFDBHCI	0.706198	0.66133	D	-0.190808562669223	0.33516	1.902364	0.01489791002276	0.40407	2.410867	0.999999798589473	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.42	4.53	0.55009	2.500000	0.45040	5.037000	0.46877	0.676000	0.76740	0.753000	0.29166	1.000000	0.68203	1.000000	0.97212	0.0:0.1428:0.8572:0.0	15.072	0.71718	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.010870	0.002924	0.000000	0.017241	0.021341	0.003788	0.05263	2308.83	33	chr5	77636984	.	G	A	2308.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.705;DP=784;ExcessHet=0.119;FS=2.64;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.174;SOR=0.914	GT:AD:DP:GQ:PL	0/1:43,35:78:99:955,0,1227	17	0	2	0
chr5	80513649	80513649	G	A	exonic	FAM151B	.	nonsynonymous SNV	FAM151B:NM_205548:exon3:c.G197A:p.G66E	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00543392758171	0.0005	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0	0.0003816	59	154602	rs139629089	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0003	0.0009	0.0008	0.0001	0.0011	0.0008	0	0	0.0017	0.0003	0.0006	5.797e-05	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0004	0.0020	0.0018	2.407e-05	0	0.0027	0.0014	0	0	0.0034	0.0003	0.0005	0.0002	0.069	0.35537	T	0.281	0.21612	T	0.039	0.21116	B	0.028	0.21332	B	0.007237	0.31521	N	0.386077	0.911755	0.27491	N	0.775	0.19437	N	2.81	0.10975	T	-2.48	0.54059	N	0.163	0.17140	-1.0216	0.23195	T	0.013	0.05129	T	10	0.0083349645	0.00189	T	0.005434	0.13954	T	0.024	0.04979	.	.	0.0666544352282	0.05500	0.4701767454435021	0.46936	0.146686632738	0.16557	0.286569654942	0.08425	T	0.010352	0.09352	T	-0.612015	0.00123	T	-0.744629	0.03699	T	0.0114656052533619	0.00172	T	0.628437	0.24364	T	0.10101609	0.23857	0.11229566	0.27095	0.10101609	0.23857	0.11229566	0.27094	-5.62	0.42975	T	.	.	0.079	0.07318	B	.	.	2.012169	0.25571	16.81	0.82911332837642193	0.14441	0.28403	0.23544	N	AEFBI	0.058793	0.11057	N	-0.833801359502692	0.12453	0.6070645	-0.790363201224241	0.14731	0.7712563	0.00275098546584675	0.09676	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	6.04	1.76	0.23776	0.776000	0.26365	3.709000	0.39550	-0.153000	0.12021	0.010000	0.18352	1.000000	0.68203	0.316000	0.24877	0.2876:0.1487:0.5637:0.0	5.531	0.16271	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	33	chr5	80513649	.	G	A	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.492;DP=711;ExcessHet=0;FS=0.927;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.174;SOR=0.906	GT:AD:DP:GQ:PL	0/1:36,33:69:99:793,0,943	18	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1959.77	54	chr5	80654889	.	TGCAGCGGCC	*	1959.77	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.317;DP=1361;ExcessHet=1.7862;FS=1.139;InbreedingCoeff=-0.0523;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=-0.052;SOR=0.811	GT:AD:DP:GQ:PL	0/1:29,37:66:99:1430,0,995	10	1	8	0
chr5	80654891	80654891	C	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	937.8	51	chr5	80654891	.	C	*	937.8	.	AC=10;AF=0.278;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=10;MLEAF=0.278;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	0/1:29,37:66:99:1430,0,995	9	1	8	1
chr5	81330515	81330515	C	G	exonic	ACOT12	.	nonsynonymous SNV	ACOT12:NM_130767:exon15:c.G1547C:p.S516T	.	428	1078	16	0	0	16	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0041	0.00379393	0.0022	0.0110	0.0018	0	0	0.0016	0.0044	0.0010	0.0020763	321	154602	rs148630854	0.0012	0.0012	0.0012	0.0012	0.0114	0.0012	0.0011	0.0104	0.0101	0.0114	0.0019	0.0145	0	1.872e-05	0.0080	0.0006	0.0030	0.0009	0.0043	0.0043	0.0044	0.0042	0.0113	0.0040	0.0039	0.0105	0.0101	0.0113	0	0.0039	0.0130	0	0	0	0.0008	0.0090	0.0021	0.024	0.47745	D	0.043	0.49942	D	0.136	0.27347	B	0.129	0.32841	B	0.000018	0.62929	D	0.148152	0.648529	0.32942	D	2.675	0.78361	M	2.48	0.14657	T	-1.31	0.32791	N	0.213	0.23758	-1.1433	0.01240	T	0.038	0.16419	T	10	0.00680092	0.00154	T	.	.	.	0.102	0.29158	.	.	0.33085137897	0.32697	0.43767070057906926	0.43684	0.247984735004	0.27358	0.432376146317	0.29534	T	0.085926	0.37610	T	-0.596935	0.00152	T	-0.619844	0.11197	T	0.0378172540737556	0.03299	T	0.552145	0.19060	T	0.08670919	0.20165	0.13169524	0.31617	0.08670919	0.20165	0.13169524	0.31616	-5.293	0.39874	T	.	.	0.097	0.15832	B	.	.	3.284550	0.45021	22.0	0.9780024171918299	0.36058	0.88285	0.48144	D	AEFI	0.710842	0.66447	D	0.144560799799679	0.48554	3.066328	0.253707566329056	0.52860	3.45814	0.996932734919856	0.35130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	2.651000	0.46338	4.029000	0.41321	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:1.0:0.0:0.0	15.434	0.74858	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.016304	0.008772	0.050000	0.008621	0.003049	0.000000	0.02632	1048.33	33	chr5	81330515	.	C	G	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.161;DP=693;ExcessHet=0;FS=4.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.723;SOR=1.29	GT:AD:DP:GQ:PL	0/1:36,40:76:99:1062,0,948	18	0	1	0
chr5	94520596	94520596	C	G	exonic	KIAA0825	.	nonsynonymous SNV	KIAA0825:NM_001385718:exon4:c.G325C:p.V109L,KIAA0825:NM_001145678:exon5:c.G622C:p.V208L,KIAA0825:NM_001385713:exon5:c.G622C:p.V208L,KIAA0825:NM_001385714:exon5:c.G622C:p.V208L,KIAA0825:NM_001385717:exon5:c.G622C:p.V208L,KIAA0825:NM_001385723:exon5:c.G622C:p.V208L,KIAA0825:NM_173665:exon5:c.G622C:p.V208L,KIAA0825:NM_001385712:exon6:c.G622C:p.V208L,KIAA0825:NM_001385716:exon6:c.G622C:p.V208L,KIAA0825:NM_001385722:exon6:c.G622C:p.V208L,KIAA0825:NM_001385724:exon6:c.G511C:p.V171L,KIAA0825:NM_001385728:exon6:c.G622C:p.V208L,KIAA0825:NM_001385729:exon6:c.G622C:p.V208L,KIAA0825:NM_001385719:exon7:c.G622C:p.V208L,KIAA0825:NM_001385720:exon7:c.G622C:p.V208L,KIAA0825:NM_001385721:exon7:c.G622C:p.V208L,KIAA0825:NM_001385730:exon7:c.G622C:p.V208L,KIAA0825:NM_001385715:exon8:c.G622C:p.V208L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.128737727943	0.0002	.	4.138e-05	0.0002	0	0	0	4.508e-05	0	0	3.23e-05	5	154602	rs373822700	2.532e-05	2.531e-05	2.86e-05	2.201e-05	0.0003	1.868e-05	1.631e-05	6.099e-05	2.524e-05	0.0001	8.951e-05	0	0	0	0.0003	2.159e-05	4.97e-05	0	5.264e-05	5.254e-05	7.718e-05	2.694e-05	0.0001	2.56e-05	1.832e-05	6.284e-05	4.3e-05	0.0001	0	6.557e-05	0	0	0	0.0032	0	0	0	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.710191	0.06253	N	1.128630	0.993891	0.42089	D	2.81	0.81869	M	0.17	0.85173	T	-1.11	0.51157	N	0.847	0.84298	0.205	0.85994	D	0.776	0.92380	D	10	0.7761419	0.77474	D	0.128738	0.81071	D	0.404	0.71714	.	.	0.761626786136	0.75946	0.20455856770004419	0.20372	0.33156140431	0.35231	0.543625593185	0.44958	T	0.139417	0.47342	T	0.202035	0.74083	D	0.289101	0.87614	D	0.271245932262315	0.23801	T	0.885811	0.61165	D	0.23040636	0.45795	0.24659243	0.50172	0.23040636	0.45795	0.24659243	0.50171	-5.278	0.39724	T	.	.	0.735	0.75517	P	.;.	.;.	2.961447	0.39439	21.0	0.99765426859017792	0.85417	0.92441	0.55719	D	AEFGBCI	0.737392	0.68260	D	0.685751277215	0.78699	6.924447	0.643667746928143	0.78139	6.816717	0.999999999999905	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	6.422000	0.73266	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	19.403	0.94629	891	0.26808	.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1450.33	33	chr5	94520596	.	C	G	1450.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=755;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.236;SOR=0.614	GT:AD:DP:GQ:PL	0/1:76,54:130:99:1464,0,2003	18	0	1	0
chr5	111119021	111119021	A	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon17:c.A1805G:p.D602G	Glaucoma 1, open angle, G	1	1506	14	1	0	16	0.00528402	.	.	.	16619	not_specified|Glaucoma_1,_open_angle,_G|not_provided	MedGen:CN169374|MedGen:C1835933,OMIM:609887|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.926	0.145943051313	0.0055	0.00139776	0.0042	0.0009	0.0037	0	0.0015	0.0065	0.0055	0.0007	0.0043919	679	154602	rs34595252	0.0066	0.0067	0.0067	0.0066	0.0078	0.0065	0.0065	0.0077	0.0076	0.0013	0.0041	0.0072	5.044e-05	0.0016	0.0064	0.0078	0.0064	0.0007	0.0046	0.0046	0.0049	0.0042	0.0071	0.0043	0.0042	0.0063	0.0061	0.0015	0.0022	0.0071	0.0087	0	0.0007	0.0102	0.0068	0.0085	0.0015	.	.	.	0.014	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.97	0.96570	H	-1.41	0.80560	T	-6.41	0.91226	D	0.837	0.83269	0.634	0.92336	D	0.702	0.89735	D	9	0.051918864	0.05146	T	0.145943	0.82810	D	0.926	0.98192	.	.	0.951965153022	0.95145	0.7251869714005635	0.72462	0.249442458714	0.27520	0.573815584183	0.49216	T	0.528265	0.83628	D	0.126704	0.67039	D	0.41379	0.92548	D	0.162536933819761	0.18057	T	0.938606	0.76932	D	0.6678618	0.76319	0.8412156	0.90918	0.92143774	0.93389	0.85915357	0.92121	-11.76	0.83662	D	0.7100612210578926	0.79015	0.935	0.85414	P	.;.;.	.;.;.	5.114656	0.85525	28.6	0.99868019287640497	0.94637	0.98820	0.87283	D	AEFBI	0.876605	0.80071	D	0.969284952116705	0.94719	12.98308	0.907067153494353	0.95874	14.05755	0.999999999993032	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	8.035000	0.89178	11.176000	0.88137	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.635	0.84906	899	0.25060	WD40-repeat-containing domain;WD40-repeat-containing domain;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	0.006552	0.015152	0.008152	0.017544	0.000000	0.000000	0.000000	0.000000	0.02632	833.33	40	chr5	111119021	.	A	G	833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=790;ExcessHet=0;FS=9.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.01;SOR=1.865	GT:AD:DP:GQ:PL	0/1:41,30:71:99:847,0,1052	18	0	1	0
chr5	113084135	113084135	C	T	exonic	MCC	.	nonsynonymous SNV	MCC:NM_002387:exon8:c.G1031A:p.R344Q,MCC:NM_001085377:exon10:c.G1601A:p.R534Q	Colorectal cancer, somatic	0	225	1	0	0	1	0.00221729	.	.	.	2301723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.246	0.0277488780238	0.0002	.	4.942e-05	0	0	0	0	8.99e-05	0	0	3.88e-05	6	154602	rs146838176	1.71e-05	1.71e-05	1.906e-05	1.513e-05	2.987e-05	1.174e-05	9.92e-06	1.46e-05	1.227e-05	2.987e-05	0	0	0	0	0	2.158e-05	0	0	1.972e-05	1.971e-05	2.571e-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	0.018	0.53172	D	0.09	0.40267	T	0.994	0.70673	D	0.885	0.71005	P	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	0.895	0.22405	L	2.29	0.38556	T	-0.88	0.23808	N	0.787	0.78356	-0.9491	0.41126	T	0.169	0.50890	T	10	0.6347123	0.68716	D	0.027749	0.50522	D	0.246	0.55340	.	.	0.535102873643	0.53161	0.6142870406330622	0.61360	0.454620261349	0.45150	0.748307943344	0.74196	T	0.132175	0.46211	T	-0.179728	0.23774	T	-0.31004	0.43655	T	0.623989284038544	0.37370	D	0.967703	0.88280	D	0.2964743	0.52587	0.22749856	0.47762	0.2964743	0.52587	0.22749856	0.47761	-3.345	0.14325	T	0.3160423134066734	0.41408	0.113	0.43640	B	.;.;.;.	.;.;.;.	5.420409	0.90688	31	0.99951309836235014	0.99944	0.97574	0.75643	D	AEFBI	0.709559	0.66360	D	0.53196216391727	0.68992	5.294022	0.581978706614635	0.73648	6.00507	0.999999999939711	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.47	5.47	0.80345	5.726000	0.68163	7.704000	0.66446	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	19.325	0.94246	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	.	.	.	.	.	.	.	.	0.02632	1991.33	34	chr5	113084135	.	C	T	1991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.15;DP=761;ExcessHet=0;FS=1.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.66;SOR=0.569	GT:AD:DP:GQ:PL	0/1:62,75:137:99:2005,0,1418	18	0	1	0
chr5	134674651	134674651	G	A	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon5:c.G854A:p.S285N,SEC24A:NM_021982:exon5:c.G854A:p.S285N	.	434	1086	2	0	0	2	0.000919963	.	.	.	2343734	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00298718486868	0.0005	.	0.0003	0	0	0	0	0.0006	0	0.0001	0.0002523	39	154602	rs201538262	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	2.988e-05	0.0001	0.0020	0	1.873e-05	0.0005	0.0002	0.0003	9.282e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	0	6.553e-05	0.0026	0	0	0	0.0004	0.0005	0	0.32	0.13834	T	0.632	0.12491	T	0.0	0.02946	B	0.002	0.06944	B	0.689819	0.10186	N	0.871487	0.875843	0.28132	N	0.77	0.19370	N	1.94	0.22678	T	-0.7	0.25551	N	0.083	0.06454	-0.9945	0.31432	T	0.024	0.10194	T	10	0.018056244	0.00390	T	0.002987	0.06398	T	0.094	0.27141	.	.	0.395745362164	0.39188	0.3301649579888429	0.32929	0.0920772939571	0.10393	0.422906041145	0.28237	T	0.030107	0.21417	T	-0.549715	0.00293	T	-0.709331	0.05329	T	0.0134441190212854	0.00244	T	0.720728	0.33361	T	0.0366955	0.04563	0.03394462	0.02375	0.0366955	0.04562	0.03394462	0.02374	-3.46	0.15876	T	.	.	0.065	0.12371	B	.;.	.;.	1.811930	0.23026	15.86	0.83946714806994682	0.15009	0.79414	0.39347	D	AEFBI	0.076687	0.15433	N	-0.508138599921409	0.21816	1.160553	-0.342978825371054	0.26725	1.478148	0.0016411897304927	0.08740	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	0.92	0.18524	0.700000	0.25278	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2396:0.4959:0.2645:0.0	5.417	0.15679	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	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	633.33	37	chr5	134674651	.	G	A	633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.062;DP=690;ExcessHet=0;FS=7.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.13;SOR=0.183	GT:AD:DP:GQ:PL	0/1:32,25:57:99:647,0,824	18	0	1	0
chr5	140803137	140803137	T	C	exonic	PCDHA3	.	nonsynonymous SNV	PCDHA3:NM_018906:exon1:c.T1940C:p.L647P,PCDHA3:NM_031497:exon1:c.T1940C:p.L647P	.	427	1089	6	0	0	6	0.00274725	.	.	.	3212710	PCDHA3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.523	0.243787462749	0.0009	0.000998403	0.0010	9.709e-05	0.0023	0	0	0.0010	0.0022	0.0011	0.0008861	137	154602	rs149374718	0.0006	0.0006	0.0006	0.0007	0.0088	0.0006	0.0006	0.0069	0.0062	0.0006	0.0021	0.0029	0	5.638e-05	0.0088	0.0004	0.0014	0.0008	0.0006	0.0006	0.0007	0.0005	0.0020	0.0005	0.0005	0.0014	0.0012	9.619e-05	0.0022	0.0020	0.0023	0	0	0.0034	0.0005	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.014402	0.28541	U	0.000000	1	0.81001	D	4.18	0.97724	H	0.26	0.59314	T	-6.37	0.92042	D	0.863	0.88137	0.423	0.89444	D	0.497	0.80941	T	10	0.13322487	0.25357	T	0.243787	0.88816	D	0.523	0.79765	.	.	0.909870636381	0.90897	0.8673886149845436	0.86703	.	.	.	.	.	0.43011	0.77868	T	-0.0107486	0.50162	T	0.206236	0.83467	D	0.252943754196167	0.23004	T	0.939406	0.78031	D	0.93062454	0.94300	0.9138477	0.95962	0.93062454	0.94300	0.9138477	0.95963	-11.766	0.83692	D	.	.	0.914	0.85022	P	.;.	.;.	3.377705	0.46710	22.3	0.99751819565832711	0.84305	0.99214	0.92914	D	AEFBI	0.914545	0.87806	D	0.788223455836083	0.85362	8.553761	0.593143958142618	0.74444	6.138645	0.999998610390679	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.32	4.32	0.50899	5.783000	0.68630	.	.	0.605000	0.46263	0.976000	0.34826	0.962000	0.29361	0.049000	0.15107	0.0:0.0:0.0:1.0	13.767	0.62488	18	0.98631	.;Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.006546	0.005051	0.009511	0.005848	0.050000	0.000000	0.003049	0.000000	0.02632	5876.33	150	chr5	140803137	.	T	C	5876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.388;DP=3003;ExcessHet=0;FS=1.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.715;SOR=0.548	GT:AD:DP:GQ:PL	0/1:252,220:472:99:5890,0,6903	18	0	1	0
chr5	141096081	141096081	C	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C1291A:p.P431T	.	407	1061	53	1	0	55	0.0252641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	0.0038	0.00958466	0.0089	0.0003	0.0015	0.0003	0.0038	0.0050	0.0110	0.0421	0.0078977	1221	154602	rs116177548	0.0061	0.0061	0.0049	0.0073	0.0403	0.0060	0.0059	0.0392	0.0388	0.0010	0.0013	0.0061	0.0003	0.0030	0.0135	0.0040	0.0072	0.0403	0.0042	0.0043	0.0038	0.0047	0.0396	0.0040	0.0039	0.0350	0.0332	0.0009	0	0.0028	0.0063	0.0008	0.0039	0.0170	0.0043	0.0038	0.0396	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.998288	0.44722	D	4.53	0.99067	H	0.47	0.56114	T	-7.69	0.95603	D	0.109	0.09490	0.210	0.86076	D	0.416	0.76272	T	9	0.0071762204	0.00163	T	.	.	.	0.365	0.68495	.	.	0.612105117874	0.60898	0.40462831523539394	0.40378	.	.	0.502436220646	0.39167	T	0.168583	0.51564	T	-0.205426	0.20028	T	-0.0371565	0.67893	D	0.0867931227568148	0.10833	T	0.89531	0.63576	D	0.6614294	0.75975	0.67982537	0.81189	0.6614294	0.75976	0.67982537	0.81190	-12.058	0.85132	D	.	.	0.311	0.53838	B	.	.	3.332482	0.45886	22.2	0.99748695843572432	0.84077	0.94566	0.61582	D	AEFBI	0.362501	0.45174	N	0.709339028336467	0.80246	7.251683	0.535182317702874	0.70373	5.49572	0.999973434895134	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	5.11	5.11	0.69188	2.517000	0.45189	.	.	0.599000	0.40250	0.824000	0.30046	0.964000	0.29435	0.076000	0.17014	0.1465:0.8535:0.0:0.0	14.595	0.67990	461	0.78683	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.010870	0.008772	0.000000	0.017241	0.024390	0.015152	0.07895	12840.8	414	chr5	141096081	.	C	A	12840.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.79;DP=2152;ExcessHet=0.3672;FS=1.104;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.2;MQRankSum=3.72;QD=12.1;ReadPosRankSum=0.645;SOR=0.616	GT:AD:DP:GQ:PL	0/1:127,124:251:99:3499,0,3552	16	0	3	0
chr5	141122851	141122851	G	C	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G853C:p.D285H	.	416	1054	51	1	0	53	0.0245257	.	.	.	698863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0037	0.00958466	0.0091	0.0003	0.0015	0.0003	0.0038	0.0050	0.0111	0.0425	0.0078524	1214	154602	rs149340599	0.0061	0.0061	0.0049	0.0073	0.0409	0.0060	0.0060	0.0398	0.0393	0.0010	0.0013	0.0061	0.0003	0.0030	0.0139	0.0040	0.0072	0.0409	0.0042	0.0042	0.0038	0.0047	0.0402	0.0040	0.0039	0.0356	0.0338	0.0009	0	0.0028	0.0063	0.0008	0.0038	0.0170	0.0043	0.0038	0.0402	0.002	0.72154	D	0.052	0.47581	T	0.592	0.39119	P	0.824	0.59271	P	.	.	.	.	0.995638	0.42782	D	0.975	0.24501	L	-0.19	0.65931	T	-2.03	0.46673	N	0.132	0.12770	-0.4390	0.70763	T	0.277	0.64896	T	9	0.0023590326	0.00035	T	.	.	.	0.163	0.42028	.	.	0.624762870363	0.62171	0.18137512757830604	0.18056	.	.	0.355227172375	0.18689	T	0.027262	0.20004	T	-0.419304	0.01728	T	-0.344377	0.39848	T	0.0769435884720714	0.09592	T	0.70183	0.31167	T	0.4089323	0.61346	0.5137543	0.71903	0.4089323	0.61346	0.5137543	0.71904	-6.845	0.52893	T	.	.	0.115	0.23113	B	.	.	3.029406	0.40572	21.2	0.99417549142401851	0.63597	0.69254	0.34115	D	AEFBI	0.313196	0.41842	N	0.117199949162578	0.47266	2.954661	0.076161419448437	0.43353	2.63879	0.461169955851713	0.20625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	0.765000	0.26211	.	.	0.590000	0.31872	0.000000	0.06391	0.931000	0.28545	0.993000	0.69303	0.0:0.0:1.0:0.0	17.554	0.87781	520	0.74355	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013092	0.005051	0.010870	0.008772	0.000000	0.017241	0.027439	0.015152	0.07895	3350.79	99	chr5	141122851	.	G	C	3350.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.065;DP=1516;ExcessHet=0.3672;FS=5.845;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.865;SOR=0.597	GT:AD:DP:GQ:PL	0/1:39,36:75:99:920,0,1106	16	0	3	0
chr5	141211069	141211069	C	G	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.C2162G:p.P721R	.	372	1101	46	3	0	52	0.0230701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0038	0.0071885	0.0088	0.0005	0.0016	0.0004	0.0044	0.0057	0.0122	0.0369	0.0075872	1173	154602	rs150562956	0.0073	0.0073	0.0061	0.0084	0.0377	0.0071	0.0071	0.0366	0.0361	0.0009	0.0020	0.0033	0.0003	0.0040	0.0149	0.0058	0.0070	0.0377	0.0054	0.0054	0.0048	0.0060	0.0367	0.0051	0.0049	0.0323	0.0306	0.0009	0	0.0040	0.0032	0.0004	0.0047	0.0068	0.0069	0.0047	0.0367	0.004	0.65419	D	0.387	0.16280	T	0.061	0.23190	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.85	0.47130	T	-0.21	0.10308	N	0.05	0.02179	-1.0327	0.19586	T	0.067	0.27640	T	9	0.0026969314	0.00042	T	.	.	.	0.029	0.06676	.	.	0.456275507713	0.45249	0.09963175427583046	0.09894	0.22973312364	0.25525	0.573936104774	0.49234	T	0.001056	0.00580	T	-0.60379	0.00138	T	-0.613619	0.11692	T	0.00680642899000506	0.00077	T	0.250275	0.12411	T	0.07188258	0.15949	0.06356104	0.12609	0.07188258	0.15948	0.06356104	0.12609	-4.549	0.32559	T	.	.	0.091	0.13032	B	.;.	.;.	1.141436	0.15289	11.74	0.86655142440817323	0.16682	0.05152	0.10965	N	AEFDBI	0.065858	0.12867	N	-0.900844477447111	0.10823	0.5191038	-0.962757534171288	0.10628	0.5365001	0.0019811220922222	0.09061	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	3.67	1.7	0.23359	0.519000	0.22570	.	.	0.328000	0.19510	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2725:0.3123:0.4152:0.0	7.747	0.28043	692	0.58729	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.005051	0.010870	0.005848	0.000000	0.017241	0.021341	0.007576	0.07895	5338.79	176	chr5	141211069	.	C	G	5338.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.184;DP=1296;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.988;SOR=0.735	GT:AD:DP:GQ:PL	0/1:81,65:146:99:1521,0,2102	16	0	3	0
chr5	141215723	141215723	T	A	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.T1600A:p.S534T	.	82	1384	52	4	0	60	0.0212164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00559105	0.0070	0.0004	0.0015	0.0002	0.0042	0.0049	0.0122	0.0277	0.0004592	71	154602	rs142003231	0.0063	0.0063	0.0054	0.0072	0.0274	0.0062	0.0061	0.0265	0.0261	0.0009	0.0019	0.0005	0.0002	0.0040	0.0146	0.0055	0.0058	0.0274	0.0049	0.0048	0.0044	0.0053	0.0279	0.0046	0.0044	0.0241	0.0227	0.0008	0	0.0037	0	0.0004	0.0048	0.0068	0.0066	0.0047	0.0279	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	5.18	0.01178	T	2.2	0.00324	N	0.046	0.01825	-0.9294	0.44227	T	0.001	0.00438	T	9	0.015485257	0.00325	T	.	.	.	0.010	0.01040	.	.	0.124217242631	0.12060	0.09065137351058344	0.08998	.	.	0.637654304504	0.58230	T	9.38E-4	0.00486	T	-0.78454	0.00010	T	-0.879441	0.00658	T	0.00595909488213273	0.00066	T	0.240776	0.03459	T	0.033583492	0.03606	0.040221427	0.04296	0.033583492	0.03606	0.040221427	0.04295	1.445	0.00087	T	.	.	0.063	0.01491	B	.	.	-1.559795	0.00261	0.004	0.44196782515171285	0.03381	0.00237	0.01320	N	AEFBI	0.033532	0.03998	N	-2.08608395626137	0.00137	0.005879442	-2.11890146718901	0.00169	0.007454467	0.443293760168707	0.20471	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.42	-5.84	0.02127	-7.928000	0.00035	.	.	-3.762000	0.00061	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3484:0.0:0.301:0.3505	4.108	0.09516	687	0.59234	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009199	0.005376	0.008152	0.004132	0.000000	0.017241	0.019231	0.003817	0.05263	7178.83	162	chr5	141215723	.	T	A	7178.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.07;DP=1947;ExcessHet=0.119;FS=1.755;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.86;MQRankSum=-4.047;QD=20.34;ReadPosRankSum=1.13;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,89:191:99:0|1:141215722_T_C:3388,0,3998:141215722	17	0	2	0
chr5	141375342	141375342	T	A	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.T1259A:p.I420N,PCDHGA6:NM_032086:exon1:c.T1259A:p.I420N	.	.	.	.	.	.	.	.	.	.	.	2767314	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.578	0.172118549401	.	.	0.0002	0	8.67e-05	0	0	0	0	0.0012	0.0001358	21	154602	rs576044355	6.363e-05	6.362e-05	2.995e-05	9.766e-05	0.0010	5.296e-05	4.912e-05	0.0008	0.0008	2.987e-05	0	0	2.519e-05	0	0	2.698e-06	4.969e-05	0.0010	2.627e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.231422	0.15912	U	0.355912	1	0.81001	D	4.47	0.98884	H	0.06	0.61798	T	-6.89	0.93257	D	0.834	0.84713	0.705	0.93231	D	0.618	0.86539	D	10	0.7439717	0.75155	D	0.172119	0.84919	D	0.578	0.82968	0.733	0.86633	0.895898696714	0.89487	0.4021467748251058	0.40130	1.30445785166	0.83093	.	.	.	0.353305	0.72062	T	-0.0332991	0.46935	T	0.13384	0.79143	D	0.711929261684418	0.41295	D	0.979335	0.92822	D	0.8820632	0.89838	0.81899124	0.89474	0.8820632	0.89839	0.81899124	0.89474	-16.389	0.98287	D	.	.	0.858	0.80205	P	.;.	.;.	4.958467	0.81967	27.7	0.99361485447150955	0.61029	0.99698	0.98764	D	AEFBI	0.922646	0.89794	D	0.988999496178048	0.95396	13.57992	0.873535743358436	0.94312	12.66445	0.999999999784699	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.620976	0.48614	0	.	.	5.25	5.25	0.73169	8.017000	0.88732	.	.	0.665000	0.62972	0.984000	0.35821	0.802000	0.26959	0.944000	0.48669	0.0:0.0:0.0:1.0	15.608	0.76440	651	0.62880	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2961.33	34	chr5	141375342	.	T	A	2961.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=1044;ExcessHet=0;FS=9.465;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.144;SOR=0.845	GT:AD:DP:GQ:PL	0/1:117,112:229:99:2975,0,3181	18	0	1	0
chr5	141649286	141649286	G	A	exonic	FCHSD1	.	nonsynonymous SNV	FCHSD1:NM_033449:exon6:c.C398T:p.A133V	.	418	1099	5	0	0	5	0.00226963	.	.	.	2248381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.116	0.00619572378433	7.8e-05	0.000199681	0.0001	0	0.0002	0	0	0.0001	0	0.0003	0.0001229	19	154602	rs372216012	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0006	0.0004	2.987e-05	8.944e-05	0	0	0	0.0012	0.0001	0.0003	0.0003	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.714e-05	0.0002	0.0001	2.406e-05	0	0.0004	0	0	0	0	0.0002	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.216	0.30161	B	0.025	0.20508	B	0.000360	0.45440	D	0.098818	1	0.81001	D	0.62	0.15745	N	2.38	0.15843	T	0.76	0.02130	N	0.495	0.58373	-1.0235	0.22573	T	0.023	0.09968	T	10	0.05957064	0.07181	T	0.006196	0.16229	T	0.116	0.32463	.	.	0.411265580357	0.40742	0.07535445334460282	0.07471	0.160810122729	0.18153	0.653440237045	0.60475	T	0.001142	0.07211	T	-0.327891	0.06272	T	-0.404222	0.32892	T	0.0578291192650795	0.06823	T	0.859714	0.59457	D	0.039221574	0.05375	0.06293877	0.12392	0.039221574	0.05375	0.06293877	0.12392	-4.002	0.23834	T	.	.	0.092	0.15520	B	.;.;.	.;.;.	3.449134	0.48019	22.5	0.99191496683810543	0.54994	0.68652	0.33883	D	AEFDGBHCI	0.097731	0.19706	N	-0.165721492987817	0.34568	1.974674	0.0145683949082476	0.40391	2.409714	0.999999589538723	0.74766	0.712529	0.81865	0	0.606735	0.50208	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	3.696000	0.54489	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.942000	0.48361	0.0909:0.0:0.9091:0.0	10.566	0.44360	785	0.46916	F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3251.33	37	chr5	141649286	.	G	A	3251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=852;ExcessHet=0;FS=4.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.996;SOR=0.454	GT:AD:DP:GQ:PL	0/1:102,122:224:99:3265,0,2369	18	0	1	0
chr5	141928278	141928278	C	T	exonic	DELE1	.	nonsynonymous SNV	DELE1:NM_001142603:exon4:c.C392T:p.P131L,DELE1:NM_014773:exon4:c.C392T:p.P131L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0127986607511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.125e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.008	0.67890	D	0.028	0.19712	B	0.006	0.12133	B	0.169161	0.17427	N	0.613521	1	0.08975	N	.	.	.	2.74	0.17761	T	-1.41	0.51811	N	0.118	0.10769	-1.0360	0.18544	T	0.041	0.17488	T	10	0.07903364	0.12666	T	0.012799	0.31686	T	0.011	0.01250	0.339	0.32979	0.163833314356	0.15978	0.3990724877784135	0.39822	0.173506771255	0.19538	0.383775472641	0.22791	T	0.004178	0.34376	T	-0.239727	0.15385	T	-0.582127	0.14355	T	0.115270115072345	0.13962	T	0.731327	0.34690	T	0.06945335	0.15217	0.068189606	0.14206	0.06945335	0.15217	0.068189606	0.14206	-2.045	0.03355	T	.	.	0.095	0.20508	B	.;.;.	.;.;.	1.672323	0.21320	15.15	0.98043728315046097	0.37812	0.10252	0.15810	N	AEFBI	0.066943	0.13135	N	-0.67546594532911	0.16723	0.8544811	-0.698661748603986	0.16994	0.9016111	0.999871216049649	0.44625	0.722319	0.85440	0	0.724815	0.89359	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	5.53	2.81	0.31971	0.824000	0.27034	.	.	0.549000	0.26987	0.111000	0.23011	0.059000	0.21998	0.717000	0.34675	0.0:0.741:0.0:0.259	7.818	0.28434	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1281.33	41	chr5	141928278	.	C	T	1281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.803;DP=765;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=1.77;SOR=0.52	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1295,0,1835	18	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.1053	3729.43	42	chr5	149621740	.	G	A	3729.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.22;DP=873;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.199;SOR=0.668	GT:AD:DP:GQ:PL	0/1:25,34:59:99:1068,0,540	15	0	4	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,115:277:99:.:.:12053,6710,6351:.	5	7	6	1
chr5	157165928	157165928	G	T	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon1:c.C241A:p.L81I	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.00904159084209	.	.	0.0004	0	8.637e-05	0	0	0.0001	0	0.0028	0.0003493	54	154602	rs753017086	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	2.236e-05	0	0	0	0.0014	6.025e-05	0.0001	0.0027	9.192e-05	9.186e-05	8.993e-05	9.4e-05	0.0015	5.524e-05	4.361e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0015	0.059	0.37536	T	0.013	0.63109	D	1.0	0.90584	D	0.996	0.84481	D	0.008740	0.30696	N	0.211972	0.533176	0.31473	N	2.95	0.84923	M	3.17	0.07599	T	-1.86	0.43524	N	0.542	0.56919	-0.8238	0.53695	T	0.091	0.34928	T	10	0.041705012	0.02851	T	0.009042	0.23797	T	0.201	0.48592	0.491	0.57732	0.221019684889	0.21715	0.16683595858366893	0.16603	0.521529759999	0.49918	0.575483798981	0.49450	T	0.237165	0.60479	T	-0.4485	0.01153	T	-0.421006	0.30959	T	0.256254536269858	0.23150	T	0.893711	0.63166	D	0.14817753	0.33839	0.16372362	0.37964	0.14817753	0.33839	0.16372362	0.37964	-7.7	0.59008	D	.	.	0.224	0.45495	B	.	.	3.838695	0.55534	23.6	0.99580780977141337	0.72980	0.86167	0.45397	D	AEFBI	0.371153	0.45727	N	0.692937394801496	0.79168	7.021389	0.587555663670919	0.74047	6.071048	0.970119861462481	0.29182	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	3.576000	0.53622	7.688000	0.65646	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.464000	0.28207	0.0:0.0:1.0:0.0	13.803	0.62702	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1543.33	33	chr5	157165928	.	G	T	1543.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.58;DP=733;ExcessHet=0;FS=13.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.562;SOR=0.323	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1557,0,1290	18	0	1	0
chr5	157471775	157471775	G	T	exonic	NIPAL4	.	nonsynonymous SNV	NIPAL4:NM_001172292:exon4:c.G673T:p.V225F,NIPAL4:NM_001099287:exon5:c.G544T:p.V182F	Ichthyosis, congenital, autosomal recessive 6, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	302989	Autosomal_recessive_congenital_ichthyosis_6|not_provided	MONDO:MONDO:0012847,MedGen:C2677065,OMIM:612281,Orphanet:313,Orphanet:79394|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.767	0.237532172443	.	0.000399361	0.0015	0.0002	0	0	0	0.0005	0	0.0075	0.0007503	116	154602	rs540992129	0.0005	0.0005	0.0003	0.0007	0.0056	0.0005	0.0005	0.0048	0.0046	0	0.0001	7.747e-05	2.549e-05	0	0.0056	0.0002	0.0007	0.0052	0.0003	0.0003	0.0003	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	2.408e-05	0	0.0010	0	0	0	0	0.0002	0	0.0041	0.023	0.48186	D	0.021	0.58089	D	0.992	0.67487	D	0.868	0.67560	P	0.000010	0.62929	D	0.111083	1	0.81001	D	2.97	0.85306	M	-2.75	0.90792	D	-4.62	0.79143	D	0.412	0.45237	0.786	0.94244	D	0.845	0.94829	D	10	0.0117743015	0.00256	T	0.237532	0.88548	D	0.767	0.92129	.	.	0.708478496362	0.70593	0.7986204205216727	0.79815	1.04843531002	0.76047	0.337402641773	0.16049	T	0.829584	0.95917	D	-0.223419	0.17530	T	-0.0932989	0.63912	T	0.130717685814586	0.15449	T	0.838016	0.51077	T	0.57594025	0.71386	0.36450204	0.61817	0.57594025	0.71387	0.36450204	0.61817	-8.868	0.69210	D	.	.	0.347	0.56377	A	.;.	.;.	3.017177	0.40373	21.2	0.99520259226212537	0.69222	0.94494	0.61346	D	AEFDGBHCI	0.557136	0.56689	D	0.506268914411422	0.67460	5.084561	0.412846485959367	0.62362	4.450615	0.999999324993458	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.505578	0.09266	0	0.584449	0.35598	0	.	.	5.64	2.79	0.31792	1.713000	0.37570	0.276000	0.16712	-0.633000	0.04490	1.000000	0.71638	0.874000	0.27626	0.879000	0.42020	0.2241:0.0:0.7759:0.0	10.547	0.44253	831	0.39019	.;.	.	.	.	.	.	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	0.002016	0.000000	0.001362	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	1184.33	63	chr5	157471775	.	G	T	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=890;ExcessHet=0;FS=2.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.84;SOR=1.012	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1198,0,1428	18	0	1	0
chr5	168423967	168423967	C	T	exonic	WWC1	.	nonsynonymous SNV	WWC1:NM_001161661:exon11:c.C1709T:p.P570L,WWC1:NM_001161662:exon11:c.C1709T:p.P570L,WWC1:NM_015238:exon11:c.C1709T:p.P570L	.	369	1152	1	0	0	1	0.000433839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00597467418284	0.0005	0.000599042	0.0003	0.0008	0.0003	0	0	0.0003	0.0011	0.0002	0.0002393	37	154602	rs146672179	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0.0002	0	2.519e-05	0	0.0007	0.0002	0.0002	9.275e-05	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0	0	0	0	0.0003	0	0.0002	0.369	0.11586	T	0.336	0.18232	T	0.0	0.02946	B	0.0	0.04355	B	0.119912	0.19056	N	0.527164	0.999995	0.08975	N	0.84	0.21119	L	2.18	0.18875	T	0.56	0.02680	N	0.04	0.01347	-1.0199	0.23747	T	0.031	0.13199	T	10	0.0092763305	0.00210	T	0.005975	0.15579	T	0.058	0.16647	.	.	0.148003135375	0.14442	0.14213533605303919	0.14136	0.29165342509	0.31571	0.348112344742	0.17644	T	0.013645	0.11764	T	-0.500009	0.00572	T	-0.547353	0.17580	T	0.00618098095491206	0.00068	T	0.726327	0.34071	T	0.043228112	0.06699	0.04755389	0.06876	0.043228112	0.06698	0.04755389	0.06876	-5.691	0.43614	T	.	.	0.076	0.07602	B	.;.	.;.	1.587138	0.20305	14.69	0.45311821847538819	0.03547	0.11392	0.16603	N	AEFDBI	0.156362	0.28170	N	-0.507071698625849	0.21850	1.16264	-0.385502311368015	0.25429	1.398329	0.999999670526978	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	4.98	4.09	0.47038	2.394000	0.44104	1.415000	0.26314	0.599000	0.40250	0.013000	0.18845	0.001000	0.17328	0.933000	0.47100	0.0:0.7699:0.1517:0.0785	8.839	0.34287	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	705.33	35	chr5	168423967	.	C	T	705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.626;DP=742;ExcessHet=0;FS=9.056;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.43;SOR=0.708	GT:AD:DP:GQ:PL	0/1:34,28:62:99:719,0,890	18	0	1	0
chr5	179550631	179550631	-	GCCGGG	exonic	RUFY1	.	nonframeshift insertion	RUFY1:NM_025158:exon1:c.62_63insGCCGGG:p.G27_S28insPG	.	402	1113	7	0	0	7	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	.	0.0012	0	0	0	0.0156	0.0036	0	0	0.0004995	13	26028	rs745756258	0.0020	0.0019	0.0021	0.0020	0.0036	0.0020	0.0019	0.0023	0.0022	0.0004	0.0016	0.0018	0.0002	0.0004	0.0036	0.0023	0.0023	0.0004	0.0039	0.0035	0.0044	0.0033	0.0075	0.0035	0.0033	0.0056	0.0049	0.0014	0	0.0075	0.0036	0	0.0004	0.0345	0.0049	0.0112	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	525.29	22	chr5	179550631	.	A	AGCCGGG	525.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.916;DP=651;ExcessHet=0;FS=4.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.76;ReadPosRankSum=-0.579;SOR=0.191	GT:AD:DP:GQ:PL	0/1:13,15:28:99:539,0,474	18	0	1	0
chr5	180792838	180792838	C	T	exonic	MGAT1	.	nonsynonymous SNV	MGAT1:NM_001114619:exon2:c.G134A:p.G45D,MGAT1:NM_001114620:exon2:c.G134A:p.G45D,MGAT1:NM_001364382:exon2:c.G134A:p.G45D,MGAT1:NM_001364383:exon2:c.G134A:p.G45D,MGAT1:NM_001364389:exon2:c.G134A:p.G45D,MGAT1:NM_001364390:exon2:c.G134A:p.G45D,MGAT1:NM_001364392:exon2:c.G134A:p.G45D,MGAT1:NM_002406:exon2:c.G134A:p.G45D,MGAT1:NM_001114617:exon3:c.G134A:p.G45D,MGAT1:NM_001114618:exon3:c.G134A:p.G45D,MGAT1:NM_001364377:exon3:c.G134A:p.G45D,MGAT1:NM_001364379:exon3:c.G134A:p.G45D,MGAT1:NM_001364380:exon3:c.G134A:p.G45D,MGAT1:NM_001364381:exon3:c.G134A:p.G45D,MGAT1:NM_001364384:exon3:c.G134A:p.G45D,MGAT1:NM_001364386:exon3:c.G134A:p.G45D,MGAT1:NM_001364387:exon3:c.G134A:p.G45D,MGAT1:NM_001364391:exon3:c.G134A:p.G45D,MGAT1:NM_001364393:exon3:c.G134A:p.G45D,MGAT1:NM_001364394:exon3:c.G134A:p.G45D,MGAT1:NM_001364395:exon3:c.G134A:p.G45D,MGAT1:NM_001364385:exon4:c.G134A:p.G45D,MGAT1:NM_001364388:exon4:c.G134A:p.G45D	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0061	0.0161741	0.0147	0.0383	0.0032	0	0	0.0003	0	0.0273	0.0040168	621	154602	rs61743256	0.0020	0.0020	0.0015	0.0025	0.0233	0.0019	0.0019	0.0224	0.0221	0.0220	0.0015	0	2.727e-05	0	0.0009	2.762e-05	0.0028	0.0233	0.0078	0.0078	0.0073	0.0082	0.0247	0.0074	0.0072	0.0234	0.0229	0.0247	0	0.0025	0	0.0002	0	0	2.94e-05	0.0038	0.0219	1.0	0.02847	T	0.692	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	0.304491	0.14540	N	0.694372	1	0.08975	N	-1.39	0.00611	N	-1.63	0.82440	D	0.51	0.45222	N	0.085	0.07673	-0.9568	0.39771	T	0.131	0.44129	T	10	0.005622059	0.00125	T	.	.	.	0.184	0.45763	.	.	0.525087790474	0.52154	0.30169071396837066	0.30082	1.01688254697	0.74978	0.55193477869	0.46131	T	0.283365	0.66499	T	-0.410521	0.01971	T	-0.343537	0.39944	T	0.00227345686121769	0.00024	T	0.174183	0.04565	T	0.03107151	0.02881	0.05031648	0.07872	0.03107151	0.02881	0.05031648	0.07871	-4.975	0.36568	T	.	.	0.055	0.00563	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.079935	0.04862	1.454	0.7395565728014778	0.10517	0.00899	0.03527	N	AEFBI	0.069498	0.13758	N	-1.20238463057488	0.04965	0.2252661	-1.18210210160975	0.06208	0.2981238	0.999925400028581	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.71	3.41	0.38145	0.251000	0.18025	1.865000	0.29348	-0.189000	0.09497	0.000000	0.06391	0.992000	0.31684	0.004000	0.06068	0.0:0.2398:0.1766:0.5835	4.021	0.09152	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	0.005133	0.015789	0.002747	0.005952	0.000000	0.000000	0.000000	0.011538	0.02632	1390.33	41	chr5	180792838	.	C	T	1390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.665;DP=737;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.45;ReadPosRankSum=-0.157;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,36:68:99:0|1:180792834_G_A:1404,0,1221:180792834	18	0	1	0
chr6	7910699	7910701	CAG	-	exonic	TXNDC5	.	nonframeshift deletion	TXNDC5:NM_030810:exon1:c.76_78del:p.L26del	.	407	1088	27	0	0	27	0.012256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0212	0.0172	0	.	.	0	0	0.0417	6.5e-06	1	154602	rs775841007	0.0006	0.0059	0.0005	0.0008	0.0063	0.0006	0.0006	0.0044	0.0038	0.0007	0.0063	0.0012	0.0022	0.0033	0.0014	0.0005	0.0008	0.0023	2.708e-05	0.0002	2.641e-05	2.778e-05	6.034e-05	8.33e-06	5.27e-06	2.008e-05	1.148e-05	0	0	0	0	0	0	0	6.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056485	0.059322	0.000000	0.051724	0.100000	0.000000	0.057692	0.057692	0.05263	30.46	20	chr6	7910698	.	CCAG	C	30.46	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.53;DP=414;ExcessHet=0.119;FS=2.639;InbreedingCoeff=-0.0604;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.27;SOR=1.561	GT:AD:DP:GQ:PL	0/1:10,1:11:12:12,0,417	17	0	2	0
chr6	11190191	11190191	C	T	exonic	NEDD9	.	nonsynonymous SNV	NEDD9:NM_001271033:exon4:c.G1231A:p.G411S,NEDD9:NM_006403:exon5:c.G1678A:p.G560S,NEDD9:NM_001142393:exon6:c.G1678A:p.G560S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0113912724747	7.7e-05	0.000998403	0.0007	0	0.0002	0	0	0	0	0.0053	0.0006209	96	154602	rs374506429	0.0004	0.0004	0.0002	0.0005	0.0056	0.0003	0.0003	0.0052	0.0050	8.961e-05	0.0002	0	5.038e-05	0	0.0002	1.259e-05	0.0004	0.0056	0.0002	0.0002	6.424e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.406e-05	0	6.536e-05	0	0	0	0	0	0	0.0052	0.304	0.14303	T	0.633	0.15794	T	0.128	0.27003	B	0.025	0.20508	B	0.034548	0.24756	N	0.475522	1	0.08975	N	1.1	0.28011	L	1.24	0.36691	T	0.68	0.02228	N	0.111	0.10483	-1.0964	0.04556	T	0.020	0.08407	T	10	0.005030334	0.00108	T	0.011391	0.28966	T	0.097	0.27909	.	.	0.352914559346	0.34901	0.13273230846907877	0.13197	0.212696024126	0.23774	0.277657389641	0.07168	T	0.107556	0.41986	T	-0.512733	0.00484	T	-0.508191	0.21501	T	0.035973593340295	0.02976	T	0.661834	0.27067	T	0.04205772	0.06308	0.047362603	0.06805	0.04205772	0.06307	0.047362603	0.06804	-2.776	0.07964	T	.	.	0.076	0.07985	B	.;.;.	.;.;.	1.381563	0.17928	13.45	0.9227625737172197	0.21662	0.49681	0.28489	N	AEFBCI	0.131366	0.25028	N	-0.732667805657836	0.15108	0.7585338	-0.606925201771191	0.19315	1.035722	0.999999987241925	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.7	5.7	0.88690	1.411000	0.34311	0.247000	0.16380	-0.176000	0.10722	0.004000	0.16614	0.002000	0.18203	0.087000	0.17632	0.1454:0.8546:0.0:0.0	14.653	0.68420	767	0.49651	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2041.33	35	chr6	11190191	.	C	T	2041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.354;DP=841;ExcessHet=0;FS=3.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=0.379;SOR=0.441	GT:AD:DP:GQ:PL	0/1:53,74:127:99:2055,0,1387	18	0	1	0
chr6	13364750	13364750	T	C	exonic	GFOD1	.	nonsynonymous SNV	GFOD1:NM_001242628:exon2:c.A857G:p.Y286C,GFOD1:NM_001242630:exon2:c.A857G:p.Y286C,GFOD1:NM_018988:exon2:c.A1166G:p.Y389C	.	.	.	.	.	.	.	.	.	.	.	2287519	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.0304506961216	.	.	0.0002	0	0	0	0	3.08e-05	0	0.0011	0.0001229	19	154602	rs758595705	5.961e-05	5.951e-05	2.999e-05	8.955e-05	0.0009	4.891e-05	4.569e-05	0.0008	0.0007	0	0	0	0	0	0	5.4e-06	3.315e-05	0.0009	3.94e-05	3.937e-05	1.285e-05	6.714e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.005	0.65419	D	0.034	0.53788	D	0.013	0.16609	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.5	0.37844	L	0.78	0.49358	T	-0.56	0.17003	N	0.511	0.54234	-1.0496	0.14509	T	0.059	0.24539	T	10	0.09181565	0.16116	T	0.030451	0.52756	D	0.180	0.45073	0.258	0.20002	0.741142980358	0.73881	0.8584013073889615	0.85803	2.12076249528	0.95014	0.817500531673	0.84645	D	0.036362	0.24073	T	-0.269582	0.11803	T	-0.21636	0.53087	T	0.161578697578371	0.17987	T	0.915608	0.69895	D	0.34864354	0.56961	0.15121296	0.35629	0.34864354	0.56961	0.15121296	0.35629	-2.855	0.08701	T	.	.	0.083	0.23041	B	.;.;.	.;.;.	4.476073	0.69796	25.4	0.99699780130055793	0.80522	0.94126	0.60191	D	AEFDBI	0.731909	0.67883	D	-0.0179922535111003	0.41041	2.447863	0.168718057336977	0.48142	3.034209	0.999999941298073	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.22	5.22	0.72285	6.239000	0.72314	7.797000	0.69042	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	14.276	0.65732	866	0.32446	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	708.33	37	chr6	13364750	.	T	C	708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=704;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-1.022;SOR=0.951	GT:AD:DP:GQ:PL	0/1:32,25:57:99:722,0,927	18	0	1	0
chr6	16327663	16327663	-	TGATGCTGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCAGCATCA:p.Q215_Q216insHQH,ATXN1:NM_000332:exon8:c.647_648insTCAGCATCA:p.Q215_Q216insHQH	Spinocerebellar ataxia 1, Autosomal dominant	5	1457	32	0	28	60	0.0108622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.609e-05	0	0	0.0015	0	0	0	0.0002	6.5e-06	1	154602	rs766029394	0.0003	0.0004	0.0002	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0004	0.0004	0	0.0035	0	0.0029	3.916e-05	0.0004	0.0021	0.0008	0.0009	0.0006	0.0009	0.0099	0.0007	0.0006	0.0073	0.0064	0.0007	0	0.0010	0	0.0099	0	0.0214	0.0002	0.0016	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1316.78	41	chr6	16327663	.	C	CTGATGCTGA	1316.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.13;DP=1423;ExcessHet=0.119;FS=11.302;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=3.06;SOR=1.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,25:49:99:0|1:16327663_C_CTGATGCTGA:807,0,938:16327663	18	0	1	0
chr6	16327669	16327669	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G642T:p.Q214H,ATXN1:NM_000332:exon8:c.G642T:p.Q214H	Spinocerebellar ataxia 1, Autosomal dominant	5	1466	29	0	22	51	0.00979399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	.	0.0002	0	0.0003	0.0020	0	5.926e-05	0	0.0003	6.5e-06	1	154602	rs200111316	0.0022	0.0024	0.0019	0.0025	0.0455	0.0021	0.0021	0.0436	0.0428	0.0013	0.0018	0.0007	0.0455	0.0014	0.0040	0.0005	0.0028	0.0077	0.0050	0.0057	0.0045	0.0055	0.0623	0.0047	0.0045	0.0555	0.0528	0.0041	0	0.0055	0.0012	0.0623	0.0012	0.0217	0.0020	0.0089	0.0154	0.581	0.05973	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	0.71	0.51228	T	-0.24	0.10833	N	0.223	0.25006	-1.0332	0.19427	T	0.013	0.05177	T	5	0.003165722	0.00053	T	.	.	.	0.019	0.03383	0.243	0.17677	0.571625278582	0.56828	0.36497057281416573	0.36411	0.386732587604	0.39963	0.513806939125	0.40755	T	0.333686	0.70351	T	-0.170647	0.25137	T	-0.482899	0.24138	T	0.0146633580417803	0.00304	T	0.239776	0.03423	T	0.13407189	0.31163	0.1573729	0.36800	0.14230141	0.32754	0.17445123	0.39841	-6.779	0.52403	T	.	.	0.171	0.37690	B	.;.	.;.	1.005127	0.13839	10.39	0.70744731390196258	0.09396	0.00133	0.00820	N	AEFBI	0.024126	0.01446	N	-1.67939122662585	0.00917	0.03972131	-1.85113512368033	0.00609	0.02705755	0.695613069416805	0.22637	0.372202	0.05800	0	0.379588	0.06130	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	.	.	.	0.000000	0.12910	-0.548000	0.08544	0.000000	0.17513	0.828000	0.30104	0.000000	0.08366	0.189000	0.21571	.	.	.	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014359	0.010870	0.008287	0.023529	0.050000	0.000000	0.009615	0.023077	0.02632	794.33	41	chr6	16327669	.	C	A	794.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.749;DP=1405;ExcessHet=0;FS=1.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=1.11;SOR=0.938	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,25:49:99:0|1:16327663_C_CTGATGCTGA:808,0,936:16327663	18	0	1	0
chr6	20124479	20124479	G	A	exonic	MBOAT1	.	nonsynonymous SNV	MBOAT1:NM_001080480:exon8:c.C836T:p.P279L	.	438	1070	14	0	0	14	0.00649954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00769616227535	0.0008	0.000199681	0.0017	0.0002	0.0046	0	0	0.0019	0.0044	0.0010	0.0016106	249	154602	rs146228602	0.0013	0.0013	0.0012	0.0013	0.0192	0.0012	0.0012	0.0163	0.0153	0.0015	0.0026	0.0073	2.519e-05	0.0001	0.0192	0.0010	0.0022	0.0013	0.0012	0.0012	0.0013	0.0012	0.0024	0.0011	0.0010	0.0017	0.0015	0.0003	0	0.0024	0.0078	0	0	0.0272	0.0014	0.0033	0.0004	0.789	0.03209	T	0.987	0.02382	T	0.0	0.02946	B	0.0	0.01387	B	0.001710	0.38216	N	0.225123	0.639846	0.30625	N	-1.55	0.00465	N	1.88	0.23884	T	0.47	0.03090	N	0.263	0.29774	-0.9068	0.47238	T	0.006	0.02093	T	10	0.005061716	0.00109	T	0.007696	0.20431	T	0.020	0.03691	.	.	0.220303561663	0.21668	0.38392698013635695	0.38307	0.0498426927795	0.05475	0.321025758982	0.13577	T	0.002451	0.01845	T	-0.570574	0.00220	T	-0.597915	0.12986	T	0.0055421875458427	0.00060	T	0.768423	0.39759	T	0.025006266	0.01390	0.023661518	0.00379	0.025006266	0.01390	0.023661518	0.00379	-5.901	0.45444	T	.	.	0.052	0.00234	B	.	.	0.620465	0.09889	6.649	0.27659509698069357	0.01384	0.32297	0.24550	N	AEFBIJ	0.059171	0.11156	N	-1.15634547892508	0.05676	0.2593829	-1.00269412925123	0.09726	0.4855458	0.874897168255725	0.25494	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.61	0.549	0.16403	2.523000	0.45241	3.048000	0.36109	-0.116000	0.14526	0.966000	0.33990	0.999000	0.35428	0.037000	0.13953	0.7298:0.0:0.2702:0.0	9.466	0.37978	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	0.020645	0.010101	0.033967	0.020468	0.000000	0.017241	0.009146	0.003788	0.05263	1783.83	34	chr6	20124479	.	G	A	1783.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.95;DP=710;ExcessHet=0.119;FS=1.402;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.52;SOR=0.542	GT:AD:DP:GQ:PL	0/1:29,35:64:99:974,0,686	17	0	2	0
chr6	21594616	21594616	C	G	exonic	SOX4	.	nonsynonymous SNV	SOX4:NM_003107:exon1:c.C82G:p.L28V	.	401	1088	32	1	0	34	0.0153846	.	.	.	721903	SOX4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0064	0.00658946	0.0099	0.0017	0.0069	0.0004	0.0236	0.0138	0.0104	0.0029	0.0069857	1080	154602	rs140231408	0.0088	0.0088	0.0087	0.0090	0.0231	0.0087	0.0087	0.0198	0.0185	0.0013	0.0061	0.0046	2.535e-05	0.0170	0.0231	0.0096	0.0085	0.0029	0.0084	0.0084	0.0083	0.0085	0.0123	0.0080	0.0078	0.0116	0.0113	0.0015	0.0461	0.0105	0.0037	0.0002	0.0112	0.0068	0.0123	0.0114	0.0035	0.02	0.49613	D	0.041	0.50514	D	0.999	0.77913	D	0.991	0.79672	D	0.008648	0.30737	U	0.228531	0.998091	0.44502	D	2.085	0.57729	M	-4.61	0.97866	D	-1.94	0.45042	N	0.28	0.31702	1.021	0.97545	D	0.930	0.97703	D	10	0.0058346987	0.00130	T	.	.	.	0.393	0.70844	.	.	0.976265630234	0.97601	0.8798186674249182	0.87949	1.76582254262	0.91186	0.850305140018	0.89661	D	0.508715	0.82587	D	-0.20665	0.19853	T	-0.0559893	0.66610	D	0.0263906622172914	0.01459	T	0.767723	0.39623	T	0.40660983	0.61188	0.48305514	0.70070	0.40660983	0.61188	0.48305514	0.70070	-5.077	0.37664	T	.	.	0.239	0.47294	B	.	.	4.612667	0.73162	25.9	0.98579792533148403	0.43219	0.13430	0.17851	N	ALL	0.198450	0.32531	N	0.508664371648211	0.67602	5.103375	0.493918065059826	0.67587	5.103923	0.999999999735307	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.12	5.12	0.69459	0.264000	0.18264	5.555000	0.48903	0.580000	0.29708	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.331	0.87150	674	0.60593	.	.	.	.	.	.	Likely benign	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	1	0	0.014184	0.010309	0.014946	0.011696	0.050000	0.008621	0.015432	0.011364	0.02632	1473.33	38	chr6	21594616	.	C	G	1473.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.21;SOR=0.633	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1487,0,1761	18	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32631.1	654	chr6	31026275	.	A	*	32631.1	.	AC=3;AF=0.083;AN=36;BaseQRankSum=1.05;DP=9373;ExcessHet=0.6689;FS=0.527;InbreedingCoeff=0.015;MLEAC=3;MLEAF=0.083;MQ=59.99;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.68;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,78:296:99:0|1:31026245_ACCACAGGCT_A:2612,0,8917:31026245	15	0	3	1
chr6	31026786	31026786	C	A	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.C1355A:p.A452E,MUC22:NM_001318484:exon3:c.C1364A:p.A455E,MUC22:NM_001322469:exon3:c.C1364A:p.A455E	.	476	1041	4	1	0	6	0.00287356	.	.	.	2822855	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	0.0587179020971	.	0.000399361	0.0017	0	0	0	.	0	0	0.0025	0.0003816	59	154602	rs546686317	0.0044	0.0044	0.0043	0.0045	0.0051	0.0043	0.0043	0.0050	0.0049	0.0006	0.0004	4.037e-05	2.808e-05	0.0006	0.0018	0.0051	0.0033	0.0042	0.0018	0.0025	0.0019	0.0017	0.0034	0.0016	0.0015	0.0030	0.0028	0.0004	0	0.0005	0	0	0.0002	0.0035	0.0034	0.0010	0.0024	0.473	0.08408	T	0.658	0.06554	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.51	0.14284	T	-1.23	0.31170	N	0.126	0.11912	.	.	.	.	.	.	.	0.009105444	0.00206	T	0.058718	0.67414	D	.	.	.	.	0.128392430309	0.12331	0.005546242816993997	0.00524	.	.	0.145974442363	0.00004	T	0.004104	0.03512	T	-0.377263	0.03242	T	-0.779689	0.02463	T	.	.	.	0.0636936	0.00463	T	0.053343132	0.10081	0.07542871	0.16604	0.053343132	0.10081	0.07542871	0.16604	-5.546	0.42296	T	.	.	0.154	0.33981	B	.	.	-2.002359	0.00100	0.002	0.3270428098940108	0.01909	0.02748	0.07430	N	AEFBI	0.021701	0.00997	N	.	.	.	.	.	.	0.00400186367984494	0.10376	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.37	1.48	0.21900	-6.009000	0.00104	.	.	-2.825000	0.00179	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2618:0.5841:0.0:0.154	3.237	0.06367	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001946	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.014706	0.05263	4724.81	582	chr6	31026786	.	C	A	4724.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.694;DP=8245;ExcessHet=0;FS=17.663;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.85;MQRankSum=-0.642;QD=30.73;ReadPosRankSum=3.17;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,112:117:99:1|1:31026786_C_A:4752,328,0:31026786	18	1	0	0
chr6	31026797	31026797	-	CCACCACAGCTTCCACTGAAGGCTCTGAGG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.1366_1367insCCACCACAGCTTCCACTGAAGGCTCTGAGG:p.T458_V459insASTEGSEATT,MUC22:NM_001318484:exon3:c.1375_1376insCCACCACAGCTTCCACTGAAGGCTCTGAGG:p.T461_V462insASTEGSEATT,MUC22:NM_001322469:exon3:c.1375_1376insCCACCACAGCTTCCACTGAAGGCTCTGAGG:p.V462_G1777delinsASTEGSEATTVSTTGSETTTASTAHSETTAASTMGSETTKVSTAGSETTVSTAGSETTAASTEDSETNTAFTEDSKTTTASTTGFETTAASTTGSEPTMASTMGSETTMASTIGPETTKVSTASSEVTTVFAAGSETIRASTVGSETTTVSTTGSETTTASIMGSETSTDSTTGSETTTASTEGSETTTASTEGSEATTVSTTGSETTTVSITDSETTTTCTEGSEMTAVSTTVFETTTASTEGSEITIASTSDSETTTASTEGSETTTVTTAGSETKTAYTTGSETTTASNTGLETTTVFTIGSDTTTASTEGSETTAVSATGSEMTTVSTEGSENTTVSTTGSETTTVSTTGLETTTTSTEGSEMTTVSTTGAETTTDSTEGSGTTAASTAGSETTTVSTADSENTTASTADSETTSASTTGSETTTASTTSSETTTASTEGSETTTVSTTDSETTMVSTTGSERTITSTEGSETTTVSATGSETTVSTEGSGTTTVSITGSETTKVSTTGSETTTTSTEGSEITTASITGSETTTASTEGSETTTASTEGSETTSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	474	1044	3	1	0	5	0.00238892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375621176	0.0007	0.0008	0.0006	0.0008	0.0019	0.0007	0.0007	0.0017	0.0016	0.0003	8.657e-05	4.063e-05	0	0.0004	0.0002	0.0007	0.0011	0.0019	0.0010	0.0012	0.0010	0.0009	0.0018	0.0008	0.0008	0.0015	0.0014	0.0003	0	0.0004	0	0	0.0002	0	0.0018	0.0005	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	4250.77	582	chr6	31026797	.	A	ACCACCACAGCTTCCACTGAAGGCTCTGAGG	4250.77	.	AC=2;AF=0.053;AN=38;DP=8223;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=58.59;QD=33.34;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,98:98:99:1|1:31026786_C_A:4278,295,0:31026786	18	1	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	11439.2	539	chr6	31029723	.	A	AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	11439.2	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-1.076;DP=12410;ExcessHet=0.119;FS=0.551;InbreedingCoeff=-0.1014;MLEAC=2;MLEAF=0.063;MQ=59.33;MQRankSum=-3.73;QD=14.33;ReadPosRankSum=-5.701;SOR=0.661	GT:AD:DP:GQ:PL	0/1:94,169:263:99:5900,0,3074	14	0	2	3
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	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	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.2368	18619.8	199	chr6	31270002	.	C	T	18619.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.347;DP=3202;ExcessHet=5.3738;FS=0.521;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=59.06;MQRankSum=-0.866;QD=12.62;ReadPosRankSum=-0.528;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,66:126:99:.:.:1631,0,1585:.	10	0	9	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.2368	7474.82	61	chr6	31270250	.	C	A	7474.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.055;DP=1875;ExcessHet=5.3738;FS=5.544;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=52.1;MQRankSum=-2.734;QD=9.82;ReadPosRankSum=-1.702;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,25:54:99:.:.:685,0,946:.	10	0	9	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1053	4289.43	172	chr6	31271103	.	C	T	4289.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.236;DP=2622;ExcessHet=0.7564;FS=2.051;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=54.29;MQRankSum=1.21;QD=8.38;ReadPosRankSum=0.539;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,27:97:99:0|1:31271098_G_A:923,0,2754:31271098	15	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	0.2105	2740.21	219	chr6	31355425	.	T	C	2740.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.64;DP=3555;ExcessHet=4.0268;FS=22.975;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58;MQRankSum=-13.22;QD=1.62;ReadPosRankSum=-0.429;SOR=1.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,26:177:99:.:.:330,0,4682:.	11	0	8	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,115:115:99:1|1:31356739_C_A:5114,346,0:31356739	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,83:138:99:0|1:31356827_T_C:5739,2229,1988:31356827	3	7	9	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	32786.2	10	chr6	32521977	.	TG	*	32786.2	.	AC=2;AF=0.056;AN=36;BaseQRankSum=2.51;DP=3685;ExcessHet=1.4183;FS=10.834;InbreedingCoeff=0.0148;MLEAC=2;MLEAF=0.056;MQ=51.82;MQRankSum=-5.073;QD=12.93;ReadPosRankSum=-1.121;SOR=0.95	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,36:239:99:0|1:32521972_G_C:880,0,8335:32521972	16	0	2	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	25650.9	11	chr6	32521981	.	T	*	25650.9	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.318;DP=3616;ExcessHet=1.4183;FS=9.171;InbreedingCoeff=-0.0999;MLEAC=7;MLEAF=0.219;MQ=51.96;MQRankSum=-8.246;QD=10.3;ReadPosRankSum=-3.771;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,61:236:99:0|1:32521972_G_C:2077,0,5695:32521972	11	1	4	3
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	16776.1	118	chr6	32530183	.	CTT	*	16776.1	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.4;DP=1987;ExcessHet=7.7183;FS=6.683;InbreedingCoeff=-0.3571;MLEAC=2;MLEAF=0.053;MQ=54.14;MQRankSum=-8.782;QD=9.02;ReadPosRankSum=-2.13;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,51:136:99:0|1:32530166_A_G:1865,0,3390:32530166	17	0	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,50:133:99:.:.:5688,3488,3371:.	1	6	12	0
chr6	32584175	32584176	CC	-	exonic	HLA-DRB1	.	frameshift deletion	HLA-DRB1:NM_002124:exon2:c.303_304del:p.A102Rfs*25	.	207	1300	14	1	0	16	0.00611621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0008	0	5.464e-05	0	0.0002	0.0010758	28	26028	rs67187877	0.0015	0.0041	0.0014	0.0017	0.0069	0.0015	0.0014	0.0061	0.0058	0.0031	0.0013	0.0045	0.0069	0.0014	0.0011	0.0010	0.0026	0.0033	0.0019	0.0081	0.0019	0.0019	0.0047	0.0017	0.0016	0.0028	0.0023	0.0032	0	0.0024	0.0041	0.0047	0.0008	0.0074	0.0011	0.0018	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	492.09	386	chr6	32584174	.	GCC	G	492.09	.	AC=1;AF=0.029;AN=34;BaseQRankSum=4.15;DP=3959;ExcessHet=0;FS=10.148;InbreedingCoeff=0.3968;MLEAC=1;MLEAF=0.029;MQ=49.48;MQRankSum=-0.264;QD=2.09;ReadPosRankSum=-1.203;SOR=1.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,27:236:99:0|1:32584174_GCC_G:505,0,8648:32584174	16	0	1	2
chr6	32584176	32584178	CCG	0	exonic	HLA-DRB1	.	.	.	.	22	858	448	187	7	829	0.323877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	26443.9	403	chr6	32584176	.	CCG	*	26443.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.77;DP=4234;ExcessHet=4.2649;FS=1.308;InbreedingCoeff=-0.2116;MLEAC=1;MLEAF=0.026;MQ=52.64;MQRankSum=-2.183;QD=8.97;ReadPosRankSum=1.01;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,27:236:99:0|1:32584174_GCC_G:505,0,8648:32584174	17	0	2	0
chr6	32848058	32848058	G	A	exonic	TAP1	.	nonsynonymous SNV	TAP1:NM_000593:exon8:c.C1601T:p.T534M,TAP1:NM_001292022:exon8:c.C998T:p.T333M	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	565562	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.532	0.0530621999543	.	0.000199681	6.306e-05	0.0001	0	0.0002	0	1.936e-05	0.0013	0.0001	5.82e-05	9	154602	rs192572056	3.356e-05	3.42e-05	3.68e-05	3.029e-05	9.287e-05	2.569e-05	2.315e-05	4.584e-05	3.276e-05	2.99e-05	0	0	2.521e-05	0.0002	0	1.259e-05	0.0002	9.287e-05	7.876e-05	7.873e-05	8.992e-05	6.71e-05	0.0004	4.492e-05	3.509e-05	8.867e-05	5.28e-05	4.81e-05	0	0.0003	0	0	0.0002	0	1.47e-05	0.0005	0.0004	0.006	0.61437	D	0.038	0.51421	D	0.997	0.70673	D	0.857	0.61067	P	0.104519	0.19700	N	0.438185	1	0.81001	D	2.465	0.71551	M	-3.35	0.94022	D	-4.64	0.79316	D	0.418	0.45803	0.499	0.90528	D	0.745	0.91313	D	10	0.43269137	0.57594	T	0.053062	0.65320	D	0.532	0.80307	.	.	0.904166217823	0.90320	0.7058731781919805	0.70529	1.43442229967	0.85862	0.352427184582	0.18278	T	0.543751	0.84425	D	-0.0462833	0.45009	T	-0.0675907	0.65797	T	0.534226477146149	0.33890	D	0.963804	0.86607	D	0.078189805	0.17792	0.15872785	0.37054	0.078189805	0.17791	0.15872785	0.37053	-7.692	0.58952	D	.	.	0.076	0.37482	B	.;.	.;.	2.301993	0.29454	18.13	0.99863956959570466	0.94184	0.78077	0.38469	D	AEFDGBHCI	0.139427	0.26102	N	0.286300810678289	0.55452	3.709424	0.213807968550622	0.50613	3.251524	0.999999998033737	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.630245	0.45026	0	0.727631	0.95156	0	.	.	5.3	2.44	0.28875	0.712000	0.25450	.	.	-0.114000	0.14653	0.427000	0.26385	0.351000	0.24472	0.857000	0.40602	0.2582:0.0:0.7418:0.0	8.943	0.34903	934	0.15400	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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1058.33	34	chr6	32848058	.	G	A	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=738;ExcessHet=0;FS=5.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.18;SOR=1.201	GT:AD:DP:GQ:PL	0/1:56,42:98:99:1072,0,1372	18	0	1	0
chr6	32935635	32935635	T	C	exonic	HLA-DMB	.	nonsynonymous SNV	HLA-DMB:NM_002118:exon4:c.A640G:p.M214V	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0001	0.00259585	0.0020	0	0	0	0.0002	0.0001	0.0046	0.0133	0.0015782	244	154602	rs142046749	0.0008	0.0008	0.0005	0.0012	0.0120	0.0008	0.0008	0.0114	0.0111	0.0001	4.473e-05	0.0003	5.038e-05	7.641e-05	0.0023	6.926e-05	0.0012	0.0120	0.0004	0.0004	0.0002	0.0006	0.0096	0.0003	0.0003	0.0074	0.0066	2.409e-05	0	6.539e-05	0.0009	0.0002	0	0	0.0001	0.0009	0.0096	0.289	0.15047	T	0.298	0.20486	T	.	.	.	.	.	.	0.098998	0.02529	N	1.855370	1	0.08975	N	.	.	.	5.54	0.00885	T	-0.49	0.15578	N	0.113	0.10056	-0.9235	0.45070	T	0.001	0.00222	T	10	0.0046008825	0.00096	T	.	.	.	0.039	0.10176	.	.	0.117506650769	0.11410	0.5250331516998152	0.52427	0.375523553379	0.39009	0.233298301697	0.02221	T	.	.	.	-0.67879	0.00049	T	-0.737423	0.04000	T	0.00274916757372555	0.00029	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00195	B	.	.	-0.867952	0.00980	0.039	0.83661462809152221	0.14849	0.01840	0.05702	N	AEFBHCI	0.091434	0.18521	N	-1.39866342964536	0.02651	0.1173677	-1.44118709945545	0.02851	0.1319119	0.999999976825877	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.81	-6.77	0.01565	-2.497000	0.01046	.	.	-0.857000	0.02664	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.1302:0.4874:0.133:0.2494	4.093	0.09452	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	0.003268	0.000000	0.000000	0.005319	0.000000	0.000000	0.000000	0.003788	0.02632	563.33	36	chr6	32935635	.	T	C	563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.572;DP=720;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.052;SOR=0.551	GT:AD:DP:GQ:PL	0/1:26,28:54:99:577,0,657	18	0	1	0
chr6	33164337	33164337	C	T	exonic	COL11A2	.	nonsynonymous SNV	COL11A2:NM_080679:exon62:c.G4679A:p.R1560H,COL11A2:NM_080681:exon63:c.G4742A:p.R1581H,COL11A2:NM_080680:exon65:c.G5000A:p.R1667H	Deafness, autosomal dominant 13, Autosomal dominant;Deafness, autosomal recessive 53, Autosomal recessive;Fibrochondrogenesis 2, Autosomal recessive, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Stickler syndrome, type III, Autosomal dominant;Weissenbacher-Zweymuller syndrome, Autosomal dominant	0	1505	16	1	0	18	0.00594452	.	.	.	174497	not_provided|Fibrochondrogenesis_2|not_specified|Connective_tissue_disorder|Otospondylomegaepiphyseal_dysplasia,_autosomal_recessive|Autosomal_recessive_nonsyndromic_hearing_loss_53|Otospondylomegaepiphyseal_dysplasia,_autosomal_dominant|Stickler_Syndrome,_Dominant	MedGen:C3661900|MONDO:MONDO:0013795,MedGen:C3281128,OMIM:614524,Orphanet:2021|MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0044206,MedGen:C5551484,OMIM:215150,Orphanet:1427|MONDO:MONDO:0012333,MedGen:C1864746,OMIM:609706,Orphanet:90636|MONDO:MONDO:0008490,MedGen:C1848488,OMIM:184840,Orphanet:166100,Orphanet:3450|MedGen:CN239460	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.293	0.0860606376536	0.0009	0.00119808	0.0021	0.0001	0.0026	0.0001	0	0.0018	0.0037	0.0059	0.0018887	292	154602	rs146555195	0.0013	0.0013	0.0011	0.0015	0.0062	0.0012	0.0012	0.0057	0.0056	0.0002	0.0024	0.0014	2.519e-05	3.824e-05	0.0035	0.0009	0.0017	0.0062	0.0012	0.0012	0.0012	0.0011	0.0056	0.0010	0.0010	0.0039	0.0034	7.219e-05	0.0066	0.0022	0.0017	0.0002	0	0.0034	0.0013	0.0057	0.0056	0.028	0.65419	D	0.118	0.36365	T	.	.	.	.	.	.	0.010839	0.29768	N	0.255070	0.972785	0.38973	D	.	.	.	-0.8	0.73845	T	-1.83	0.44094	N	0.258	0.29197	-0.1799	0.78182	T	0.406	0.75614	T	10	0.014077336	0.00297	T	0.086061	0.74660	D	0.293	0.61272	.	.	0.720468078731	0.71800	0.62446606600903	0.62379	0.418499390529	0.42440	0.494466602802	0.38059	T	0.023601	0.21058	T	-0.338688	0.05480	T	-0.257082	0.49114	T	0.0113980037148032	0.00170	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24054	B	.;.;.	.;.;.	3.181810	0.43193	21.7	0.99947872410568039	0.99923	0.31858	0.24442	N	AEFDBI	0.326399	0.42769	N	0.113721188559424	0.47102	2.940713	0.112502918502449	0.45187	2.786353	0.00922045377715666	0.11816	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.87	4.87	0.62877	0.456000	0.21572	0.765000	0.21347	0.589000	0.31548	0.140000	0.23505	0.212000	0.23650	0.777000	0.36790	0.0:1.0:0.0:0.0	15.548	0.75861	830	0.39242	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal;Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, 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	0.005991	0.020202	0.002717	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	455.33	38	chr6	33164337	.	C	T	455.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.459;DP=669;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.063;SOR=0.768	GT:AD:DP:GQ:PL	0/1:22,20:42:99:469,0,523	18	0	1	0
chr6	33292239	33292239	G	A	exonic	RGL2	.	nonsynonymous SNV	RGL2:NM_001243738:exon17:c.C1951T:p.R651W,RGL2:NM_004761:exon18:c.C2197T:p.R733W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.106177590471	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs775378178	7.525e-06	7.524e-06	8.167e-06	6.875e-06	0.0002	4.04e-06	2.95e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	3.311e-05	1.159e-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	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.76916	D	0.000564	0.43250	D	0.000000	1	0.81001	D	1.845	0.48678	L	0.5	0.55608	T	-3.45	0.67589	D	0.318	0.35832	-0.6001	0.64813	T	0.221	0.58485	T	10	0.41106665	0.56228	T	0.106178	0.78165	D	0.316	0.63799	0.572	0.69564	0.814079806744	0.81233	0.7548604797283074	0.75433	1.15701977148	0.79381	0.58854496479	0.51289	T	0.204543	0.56334	T	0.0238469	0.54901	T	-0.188036	0.55774	T	0.983265161514282	0.74996	D	.	.	.	0.54812384	0.69850	0.5283659	0.72750	0.54812384	0.69852	0.5283659	0.72750	-11.882	0.84271	D	.	.	0.198	0.42052	B	.	.	5.104491	0.85307	28.6	0.99914243303600048	0.98309	0.87080	0.46514	D	AEFDBCI	0.549627	0.56243	D	0.49329822136123	0.66696	4.983806	0.450146830355231	0.64725	4.73452	0.999991165822361	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.64	4.76	0.60189	1.740000	0.37852	5.291000	0.48208	0.665000	0.62972	0.905000	0.31549	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.8256:0.1744	11.889	0.51900	653	0.62661	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	.	.	.	.	.	.	.	.	0.02632	1418.33	33	chr6	33292239	.	G	A	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.26;DP=761;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.021;SOR=0.789	GT:AD:DP:GQ:PL	0/1:75,57:132:99:1432,0,1925	18	0	1	0
chr6	35242700	35242700	G	A	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon14:c.G1610A:p.R537Q,SCUBE3:NM_152753:exon14:c.G1613A:p.R538Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	2434771	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.571	0.0316877991409	7.7e-05	0.000199681	0.0003	0	0	0.0007	0	0.0002	0.0011	0.0011	0.0002393	37	154602	rs200921745	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0009	0.0008	5.974e-05	2.236e-05	0	0.0007	0	0.0007	0.0003	0.0003	0.0010	0.0001	0.0001	0.0001	0.0002	0.0017	9.736e-05	8.252e-05	0.0009	0.0007	7.215e-05	0	0	0	0.0017	0	0.0034	8.821e-05	0	0.0006	0.089	0.32141	T	0.096	0.39340	T	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.7	0.43825	L	-1.67	0.82806	D	-1.82	0.42763	N	0.533	0.56145	0.186	0.85679	D	0.633	0.87147	D	10	0.111700594	0.20926	T	0.031688	0.53708	D	0.571	0.82573	.	.	0.727971007717	0.72556	0.635437669502499	0.63477	0.455680664173	0.45236	0.689064741135	0.65572	T	0.150811	0.49046	T	-0.0537344	0.43877	T	0.099597	0.76881	D	0.0449189680202838	0.04588	T	0.916408	0.70110	D	0.34835863	0.56939	0.28522217	0.54524	0.34835863	0.56939	0.28522217	0.54523	-6.61	0.51130	T	.	.	0.220	0.45024	B	.	.	5.533388	0.91895	32	0.99950792873078775	0.99944	0.98720	0.85993	D	AEFDBI	0.886019	0.81705	D	0.765208678125191	0.83892	8.137842	0.762451224370926	0.87087	9.101686	0.999999999999567	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.45	5.45	0.79688	7.608000	0.82114	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.302	0.94135	248	0.90287	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003033	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	841.33	33	chr6	35242700	.	G	A	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=1.01;SOR=0.741	GT:AD:DP:GQ:PL	0/1:59,36:95:99:855,0,1410	18	0	1	0
chr6	35577112	35577112	T	A	exonic	FKBP5	.	nonsynonymous SNV	FKBP5:NM_001145776:exon10:c.A1148T:p.Q383L,FKBP5:NM_004117:exon10:c.A1148T:p.Q383L,FKBP5:NM_001145775:exon11:c.A1148T:p.Q383L	.	422	1091	8	1	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.018912883136	0.0016	0.00259585	0.0019	0.0018	0.0025	0.0006	0.0002	0.0022	0.0044	0.0018	0.0018758	290	154602	rs146787424	0.0017	0.0017	0.0016	0.0017	0.0132	0.0016	0.0016	0.0108	0.0099	0.0014	0.0029	0.0068	0.0006	5.616e-05	0.0132	0.0015	0.0023	0.0018	0.0018	0.0018	0.0017	0.0019	0.0034	0.0016	0.0015	0.0027	0.0024	0.0014	0	0.0034	0.0058	0.0013	0	0.0170	0.0016	0.0057	0.0012	0.233	0.18122	T	0.238	0.24549	T	0.074	0.24142	B	0.021	0.19346	B	0.057842	0.22448	N	0.483081	0.99796	0.48557	D	2.01	0.54746	M	-0.82	0.74053	T	-2.6	0.55983	D	0.346	0.39457	-0.6465	0.62866	T	0.228	0.59334	T	10	0.013197273	0.00281	T	0.018913	0.41124	T	0.226	0.52472	.	.	0.874284516546	0.87305	0.23073804785065413	0.22988	0.302540805648	0.32581	0.421082854271	0.27985	T	0.684351	0.90763	D	-0.329494	0.06150	T	-0.250063	0.49810	T	0.0183052004325224	0.00549	T	0.770723	0.40088	T	0.34287447	0.56507	0.2405378	0.49429	0.34287447	0.56507	0.2405378	0.49428	-6.421	0.49673	T	.	.	0.100	0.16973	B	.;.;.	.;.;.	3.127156	0.42246	21.5	0.98789857504861767	0.46269	0.90336	0.51431	D	AEFGBI	0.452357	0.50594	N	0.0372090316898814	0.43554	2.646137	0.180386521300587	0.48774	3.088801	0.999992792176025	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	2.199000	0.42348	7.713000	0.66906	0.665000	0.62972	0.826000	0.30074	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1466:0.8534	11.790	0.51337	540	0.73006	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020645	0.050505	0.024457	0.023392	0.000000	0.008621	0.012195	0.000000	0.02632	3738.33	40	chr6	35577112	.	T	A	3738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=866;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-1.016;SOR=0.725	GT:AD:DP:GQ:PL	0/1:111,133:244:99:3752,0,2931	18	0	1	0
chr6	36108392	36108392	A	G	exonic	MAPK14	.	nonsynonymous SNV	MAPK14:NM_001315:exon12:c.A1028G:p.D343G,MAPK14:NM_139012:exon12:c.A1028G:p.D343G	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.00945156123078	0.0008	0.00159744	0.0010	0.0008	0.0017	0.0003	0.0002	0.0010	0.0022	0.0012	0.0010543	163	154602	rs45496794	0.0011	0.0011	0.0011	0.0011	0.0021	0.0010	0.0010	0.0015	0.0013	0.0003	0.0018	0.0015	0.0005	0.0002	0.0021	0.0011	0.0017	0.0012	0.0007	0.0007	0.0008	0.0007	0.0014	0.0006	0.0006	0.0007	0.0006	0.0003	0	0.0010	0.0023	0.0014	0.0002	0	0.0009	0.0028	0.0010	0.132	0.26519	T	0.174	0.35330	T	0.0	0.02946	B	0.004	0.10090	B	0.000072	0.52346	D	0.168693	0.999998	0.81001	D	1.84	0.48285	L	0.98	0.42122	T	-3.16	0.64246	D	0.415	0.49420	-1.0976	0.04394	T	0.051	0.21533	T	10	0.021505833	0.00516	T	0.009452	0.24763	T	0.309	0.63055	.	.	0.641978480621	0.63902	0.6136772592270269	0.61299	0.926654878989	0.71671	0.543780326843	0.44979	T	0.743889	0.92929	D	-0.216856	0.18424	T	-0.119653	0.61832	T	0.0765669063433837	0.09542	T	0.868913	0.57326	D	0.56512094	0.70792	0.45242777	0.68147	0.56512094	0.70793	0.45242777	0.68148	-3.436	0.15642	T	.	.	0.176	0.38409	B	.;.;.	.;.;.	3.874720	0.56279	23.7	0.96665292820558468	0.30643	0.99696	0.98747	D	AEFBI	0.940391	0.94228	D	0.10342146099628	0.46621	2.899773	0.320426936476215	0.56743	3.83797	0.999999999958546	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	9.290000	0.95109	9.416000	0.80730	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	16.161	0.81518	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	0.003021	0.020202	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1285.33	35	chr6	36108392	.	A	G	1285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=768;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-2.316;SOR=0.588	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1299,0,1806	18	0	1	0
chr6	36295394	36295394	G	A	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145716:exon5:c.G487A:p.E163K,PNPLA1:NM_001145717:exon5:c.G745A:p.E249K,PNPLA1:NM_001374623:exon5:c.G745A:p.E249K,PNPLA1:NM_173676:exon5:c.G460A:p.E154K	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	302705	Autosomal_recessive_congenital_ichthyosis_10|not_provided|PNPLA1-related_disorder	MONDO:MONDO:0014011,MedGen:C3554355,OMIM:615024,Orphanet:79394|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0170453820994	0.0029	0.00399361	0.0026	0.0022	0.0054	0	0.0002	0.0028	0.0033	0.0025	0.0027684	428	154602	rs45524833	0.0030	0.0030	0.0031	0.0029	0.0068	0.0029	0.0029	0.0062	0.0059	0.0016	0.0068	0.0016	0	0.0002	0.0045	0.0032	0.0034	0.0027	0.0031	0.0031	0.0032	0.0029	0.0076	0.0028	0.0027	0.0065	0.0061	0.0024	0	0.0076	0.0026	0	0.0003	0.0136	0.0029	0.0080	0.0031	0.209	0.20078	T	0.585	0.08361	T	0.005	0.19866	B	0.004	0.10090	B	0.146723	0.18103	N	0.485844	0.99911	0.22098	N	0.895	0.22405	L	-0.51	0.70597	T	0.05	0.08187	N	0.389	0.44474	-1.0676	0.09948	T	0.064	0.26456	T	10	0.01514864	0.00318	T	0.017045	0.38587	T	0.109	0.30843	.	.	0.773713791686	0.77163	.	.	0.327457134625	0.34885	0.408063471317	0.26188	T	5.61E-4	0.00225	T	-0.407426	0.02068	T	-0.355126	0.38615	T	0.00837962907438959	0.00101	T	0.680532	0.29402	T	0.05591676	0.10932	0.06536079	0.13236	0.056079306	0.10984	0.08050326	0.18216	-1.267	0.01349	T	.	.	0.273	0.50708	B	.;.;.;.	.;.;.;.	2.754772	0.36121	20.2	0.98602386920863672	0.43520	0.62455	0.31787	D	AEFDBI	0.195175	0.32222	N	-0.5613545260136	0.20129	1.058876	-0.414707268325894	0.24565	1.345909	0.580902509800171	0.21570	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.81	3.97	0.45241	2.897000	0.48363	6.073000	0.53275	0.676000	0.76740	0.945000	0.32849	1.000000	0.68203	0.267000	0.23694	0.0952:0.2128:0.6919:0.0	7.286	0.25514	799	0.44747	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.030303	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1399.33	33	chr6	36295394	.	G	A	1399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.338;DP=752;ExcessHet=0;FS=2.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.199;SOR=0.618	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1413,0,1320	18	0	1	0
chr6	45422755	45422755	C	A	exonic	RUNX2	.	nonsynonymous SNV	RUNX2:NM_001278478:exon1:c.C179A:p.A60E,RUNX2:NM_001369405:exon1:c.C179A:p.A60E,RUNX2:NM_001015051:exon3:c.C221A:p.A74E,RUNX2:NM_001024630:exon3:c.C221A:p.A74E	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	6	1429	71	5	11	92	0.0275604	.	.	.	1426320	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.179	0.563957239495	.	.	0.0001	0	0	0	0	5.115e-05	0	0.0005	7.12e-05	11	154602	rs753139240	6.522e-05	7e-05	4.434e-05	8.632e-05	0.0006	5.322e-05	4.926e-05	0.0005	0.0004	0	0	0	0	2.278e-05	0.0006	2.351e-05	0.0002	0.0006	4.359e-05	4.334e-05	2.848e-05	5.931e-05	6.758e-05	1.865e-05	1.227e-05	2.276e-05	1.362e-05	0	0.0015	0	0	0	0	0	6.758e-05	0.0005	0	0.007	0.59928	D	0.263	0.74150	T	0.087	0.27581	B	0.02	0.24526	B	0.560670	0.11340	N	0.710186	0.705148	0.37315	D	0.55	0.14455	N	1.98	0.42502	T	-1.36	0.33798	N	0.364	0.43320	-1.0728	0.08808	T	0.021	0.08917	T	10	0.070038736	0.10135	T	0.563957	0.96031	D	0.179	0.44899	.	.	0.724478149945	0.72203	0.5683497064965654	0.56762	0.727131412637	0.62554	0.834606289864	0.87270	D	0.593754	0.86879	D	-0.0496728	0.44498	T	-0.309128	0.43753	T	0.142797999451752	0.16514	T	0.60094	0.22576	T	0.15577787	0.35190	0.27332053	0.53251	0.22907913	0.45639	0.33611405	0.59417	-9.013	0.67871	D	.	.	0.274	0.51669	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.939750	0.39084	20.9	0.98393472500670454	0.40989	0.76520	0.37535	D	AEFDGBCIJ	0.485406	0.52501	N	-0.513762608585363	0.21634	1.149572	-0.348213487231703	0.26564	1.468117	0.999998228576119	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.22	3.22	0.36041	1.146000	0.31201	5.755000	0.49649	0.444000	0.21144	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.1887:0.8113:0.0:0.0	10.899	0.46249	663	0.61610	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1802.43	40	chr6	45422755	.	C	A	1802.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=902;ExcessHet=0.119;FS=0.484;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.015;SOR=0.627	GT:AD:DP:GQ:PL	0/1:54,68:122:99:1816,0,1437	18	0	1	0
chr6	47681687	47681687	A	T	exonic	ADGRF2	.	nonsynonymous SNV	ADGRF2:NM_001368115:exon6:c.A1128T:p.R376S,ADGRF2:NM_153839:exon7:c.A924T:p.R308S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00241247781212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24758	T	0.181	0.34477	T	0.034	0.20480	B	0.006	0.13708	B	0.463622	0.04885	N	1.283870	1	0.08975	N	.	.	.	1.98	0.37230	T	-1.2	0.30555	N	0.073	0.07949	-1.0115	0.26447	T	0.020	0.08453	T	10	0.059034288	0.07033	T	0.002412	0.04729	T	0.023	0.04649	0.493	0.58048	0.0551355673512	0.04727	0.22356580391043948	0.22271	0.0108111970447	0.01002	0.242224380374	0.02994	T	0.025232	0.18911	T	-0.280838	0.10579	T	-0.641181	0.09582	T	0.0549071654677391	0.06341	T	0.316668	0.06305	T	0.11944349	0.28124	0.055917744	0.09896	0.11944349	0.28124	0.055917744	0.09896	-2.144	0.04055	T	.	.	0.117	0.32922	B	.;.;.	.;.;.	0.592866	0.09614	6.387	0.87570630534523708	0.17323	0.01508	0.04988	N	AEFIJ	0.047820	0.08095	N	-1.03259981243168	0.07934	0.3702531	-1.09841256076569	0.07732	0.3772576	0.0319284438173481	0.14028	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	-6.83	0.01532	-1.428000	0.02545	-0.114000	0.11796	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.2142:0.2806:0.2816:0.2236	1.102	0.01581	477	0.77662	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1695.33	115	chr6	47681687	.	A	T	1695.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.553;DP=2129;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=2.18;SOR=0.639	GT:AD:DP:GQ:PL	0/1:61,59:120:99:1709,0,1789	18	0	1	0
chr6	56561475	56561475	T	G	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon38:c.A6274C:p.K2092Q,DST:NM_001374730:exon48:c.A7252C:p.K2418Q,DST:NM_183380:exon48:c.A7252C:p.K2418Q,DST:NM_001144770:exon49:c.A7372C:p.K2458Q,DST:NM_001144769:exon51:c.A7786C:p.K2596Q,DST:NM_001374729:exon53:c.A13510C:p.K4504Q,DST:NM_001374722:exon57:c.A14143C:p.K4715Q,DST:NM_001374734:exon57:c.A14170C:p.K4724Q,DST:NM_001374736:exon57:c.A14143C:p.K4715Q	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.00905923224337	.	.	2.486e-05	0	0	0	0	4.498e-05	0	0	1.94e-05	3	154602	rs756052997	7.526e-06	7.524e-06	6.807e-06	8.252e-06	8.995e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.995e-06	1.656e-05	0	6.568e-06	6.566e-06	0	1.344e-05	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	0.006	0.63226	D	.	.	.	0.523	0.37559	P	0.433	0.45477	B	0.000035	0.55875	D	0.000000	.	.	.	.	.	.	1.31	0.35405	T	-2.52	0.57110	D	0.477	0.51226	-0.8581	0.51398	T	0.163	0.49963	T	9	0.25423393	0.42800	T	0.009059	0.23845	T	0.197	0.47942	.	.	0.441718965978	0.43790	0.41809512000533877	0.41725	0.538655686265	0.51116	0.446060478687	0.31406	T	0.054	0.29487	T	-0.170981	0.25086	T	-0.375722	0.36222	T	0.749819278717041	0.43275	D	0.887111	0.81072	D	.	.	.	.	.	.	.	.	-6.14	0.47436	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.708985	0.52937	23.3	0.98607546444886118	0.43598	0.87878	0.47572	D	AEFGBI	0.486682	0.52575	N	0.566410143235589	0.71087	5.597906	0.627838102392839	0.76968	6.590108	0.999998392906013	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	5.043000	0.64012	7.934000	0.75174	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.822	0.85699	212	0.91760	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1556.33	33	chr6	56561475	.	T	G	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.183;DP=758;ExcessHet=0;FS=2.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-1.858;SOR=0.921	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1570,0,1817	18	0	1	0
chr6	75890141	75890141	A	G	exonic	MYO6	.	nonsynonymous SNV	MYO6:NM_001300899:exon26:c.A2743G:p.K915E,MYO6:NM_001368136:exon26:c.A2743G:p.K915E,MYO6:NM_001368137:exon26:c.A2743G:p.K915E,MYO6:NM_001368138:exon26:c.A2728G:p.K910E,MYO6:NM_001368865:exon26:c.A2743G:p.K915E,MYO6:NM_001368866:exon26:c.A2743G:p.K915E,MYO6:NM_004999:exon26:c.A2743G:p.K915E	Deafness, autosomal dominant 22, Autosomal dominant;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, Autosomal dominant;Deafness, autosomal recessive 37, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0105623084725	.	.	1.812e-05	0	0	0.0001	0	0	0	6.979e-05	1.29e-05	2	154602	rs747453477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.23095	T	0.542	0.14158	T	0.373	0.34173	B	0.117	0.32014	B	0.000068	0.52346	D	0.196289	0.999998	0.58761	D	1.69	0.43327	L	2.21	0.23082	T	-1.41	0.34795	N	0.554	0.58117	-1.1052	0.03517	T	0.034	0.14813	T	10	0.2741276	0.44965	T	0.010562	0.27238	T	0.109	0.30843	0.339	0.32979	0.441636318388	0.43783	0.35755095978188667	0.35669	0.361046545308	0.37764	0.642080307007	0.58859	T	0.120476	0.44274	T	-0.189796	0.22289	T	-0.319373	0.42644	T	0.259058800378748	0.23274	T	0.936106	0.76057	D	.	.	.	.	.	.	.	.	-10.882	0.79167	D	.	.	0.149	0.34071	B	.;.;.;.;.;.	.;.;.;.;.;.	4.161203	0.62489	24.5	0.99508768657685442	0.68499	0.98903	0.88402	D	AEFBI	0.914372	0.87764	D	0.238240124596088	0.53061	3.476703	0.394218951676799	0.61207	4.317691	0.999964400070329	0.48965	0.67177	0.52595	0	0.633656	0.55848	0	0.659464	0.59346	0	0.711	0.71501	0	.	.	5.98	5.98	0.97147	7.904000	0.86152	9.282000	0.79722	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.473	0.83963	414	0.81871	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1008.33	33	chr6	75890141	.	A	G	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.974;DP=713;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.266;SOR=0.533	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1022,0,1185	18	0	1	0
chr6	87612166	87612166	C	A	exonic	ORC3	.	nonsynonymous SNV	ORC3:NM_001197259:exon7:c.C362A:p.P121H,ORC3:NM_012381:exon8:c.C791A:p.P264H,ORC3:NM_181837:exon8:c.C791A:p.P264H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0262506414571	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288865200	4.106e-06	4.104e-06	1.362e-06	6.878e-06	6.958e-05	1.48e-06	9.7e-07	2.996e-05	2.038e-05	0	0	0	0	0	0	0	0	6.958e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	0.99	0.90584	D	0.837	0.78396	P	0.000000	0.84330	D	0.051545	1	0.81001	D	2.935	0.84639	M	1.9	0.23486	T	-7.08	0.93927	D	0.871	0.87590	-0.8215	0.53840	T	0.168	0.50729	T	10	0.8966813	0.89023	D	0.026251	0.49171	D	0.488	0.77592	0.726	0.86024	0.590875523517	0.58763	0.7108773517793953	0.71029	0.598596633043	0.55023	0.711433649063	0.68800	T	0.147898	0.48619	T	0.168611	0.70994	D	0.105051	0.77242	D	0.992096543312073	0.82494	D	0.933007	0.75346	D	0.7769444	0.82466	0.7441116	0.84874	0.7769444	0.82468	0.7441116	0.84875	-11.734	0.83532	D	.	.	0.435	0.61449	A	.;.;.	.;.;.	4.739462	0.76411	26.5	0.99728935166521249	0.82619	0.99108	0.91343	D	AEFDBI	0.887884	0.82051	D	0.867751369130882	0.90094	10.251	0.835888681006405	0.92163	11.27206	0.9999999825536	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.42	5.42	0.78666	7.814000	0.84682	7.641000	0.63200	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.575	0.95431	794	0.45591	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1495.33	33	chr6	87612166	.	C	A	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.754;DP=779;ExcessHet=0;FS=2.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.222;SOR=0.73	GT:AD:DP:GQ:PL	0/1:93,66:159:99:1509,0,2179	18	0	1	0
chr6	89868265	89868265	C	T	exonic	CASP8AP2	.	nonsynonymous SNV	CASP8AP2:NM_001137667:exon8:c.C4975T:p.P1659S,CASP8AP2:NM_001137668:exon8:c.C4975T:p.P1659S,CASP8AP2:NM_012115:exon8:c.C4975T:p.P1659S	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0291534	0.0105	0.0008	0.0177	0.1085	0.0023	0.0008	0.0090	0.0023	0.0101874	1575	154602	rs3799896	0.0028	0.0024	0.0030	0.0027	0.1067	0.0028	0.0027	0.1026	0.1009	0.0005	0.0164	0.0018	0.1067	0.0023	0.0013	0.0004	0.0072	0.0027	0.0060	0.0060	0.0057	0.0062	0.1050	0.0056	0.0055	0.0977	0.0948	0.0007	0	0.0136	0.0017	0.1050	0.0014	0	0.0008	0.0080	0.0069	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016213357	0.00019	T	.	.	.	.	.	.	.	.	.	0.22571940090601839	0.22486	.	.	0.248459517956	0.03608	T	0.010839	0.09742	T	-0.589003	0.00170	T	-0.531986	0.19090	T	.	.	.	0.649435	0.26018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19276	B	.	.	0.185563	0.05725	2.170	0.6524254116240058	0.07718	0.07235	0.13259	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.0107814309476636	0.12081	0.322412	0.05557	0	0.31918	0.05746	0	0.320204	0.05785	0	0.322829	0.05601	0	0.331571	0.35722	5.63	0.726	0.17401	-0.384000	0.07447	-0.007000	0.13116	0.549000	0.26987	0.001000	0.13787	0.005000	0.19230	0.800000	0.37734	0.176:0.3171:0.0:0.5069	3.758	0.08118	573	0.70213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	3755.83	141	chr6	89868265	.	C	T	3755.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.43;DP=918;ExcessHet=0.119;FS=6.257;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.526;SOR=0.764	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1865,0,2237	17	0	2	0
chr6	111580262	111580262	G	T	exonic	TRAF3IP2	.	nonsynonymous SNV	TRAF3IP2:NM_001164281:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147686:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147200:exon4:c.C984A:p.S328R	.	424	1080	16	2	0	20	0.00917431	.	.	.	521681	Candidiasis,_familial,_8|TRAF3IP2-related_disorder	MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.0105387821715	0.0011	0.000599042	0.0018	0	0.0006	0	0.0002	0.0022	0.0033	0.0038	0.0016171	250	154602	rs146226365	0.0013	0.0013	0.0012	0.0014	0.0087	0.0013	0.0012	0.0068	0.0061	5.982e-05	0.0004	0.0169	0	0.0002	0.0087	0.0008	0.0023	0.0041	0.0012	0.0012	0.0012	0.0012	0.0052	0.0010	0.0010	0.0036	0.0031	9.62e-05	0	0.0005	0.0161	0	0	0	0.0011	0.0043	0.0052	0.01	0.56456	D	0.044	0.50226	D	0.937	0.52445	P	0.529	0.48508	P	0.000322	0.45700	D	0.156174	1	0.81001	D	2.395	0.69210	M	1.2	0.37746	T	-1.28	0.32185	N	0.266	0.30687	-1.1119	0.02912	T	0.058	0.24317	T	10	0.007829368	0.00178	T	0.010539	0.27195	T	0.112	0.31546	0.369	0.37850	0.562580035486	0.55921	0.383433040672227	0.38258	0.248281453922	0.27391	0.36838644743	0.20599	T	0.144915	0.48178	T	-0.374221	0.03386	T	-0.312109	0.43432	T	0.0511625810549959	0.05703	T	0.618838	0.23746	T	0.06632413	0.14260	0.0971476	0.23110	0.09406443	0.22106	0.09396534	0.22219	-3.425	0.16487	T	0.2385391721129201	0.32307	0.247	0.53747	B	.;.;.;.	.;.;.;.	2.820424	0.37150	20.4	0.99794009709139653	0.87928	0.76255	0.37385	D	AEFDBI	0.194552	0.32162	N	0.138979454985184	0.48291	3.043194	0.135237814780427	0.46365	2.883631	0.999994259232576	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.99	1.77	0.23848	0.252000	0.18046	0.085000	0.14440	0.676000	0.76740	0.994000	0.38300	0.071000	0.22219	0.991000	0.66497	0.3261:0.0:0.6739:0.0	9.803	0.39945	386	0.83455	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.003788	0.05263	3835.83	53	chr6	111580262	.	G	T	3835.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.024;DP=1617;ExcessHet=0.119;FS=4.867;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.932;SOR=1.01	GT:AD:DP:GQ:PL	0/1:55,73:128:99:2046,0,1602	17	0	2	0
chr6	119188574	119188574	A	G	exonic	MAN1A1	.	nonsynonymous SNV	MAN1A1:NM_005907:exon11:c.T1550C:p.M517T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0179085087195	.	.	8.293e-06	0	0	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs777003446	1.506e-05	1.573e-05	1.635e-05	1.376e-05	0.0002	9.86e-06	8.42e-06	1.214e-05	1.03e-05	0	0	0	0	0	0.0002	1.889e-05	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.066	0.23586	B	0.155	0.34417	B	0.034237	0.24796	N	0.475074	0.999981	0.54805	D	-2.88	0.00019	N	-0.24	0.66834	T	2.61	0.00209	N	0.271	0.30687	-0.8690	0.50604	T	0.023	0.09787	T	10	0.116114795	0.21894	T	0.017909	0.39789	T	0.178	0.44724	0.43	0.47843	0.264728329957	0.26087	0.7892337253845857	0.78875	0.535086270655	0.50895	0.436649560928	0.30120	T	0.162177	0.50673	T	-0.10796	0.35104	T	-0.329207	0.41556	T	0.217682261504169	0.21348	T	0.89891	0.64583	D	0.08981812	0.20998	0.119809054	0.28915	0.08981812	0.20998	0.119809054	0.28915	-0.038	0.00363	T	.	.	0.115	0.23005	B	.	.	2.207198	0.28152	17.70	0.58111572876734541	0.05919	0.98971	0.89357	D	AEFBI	0.800509	0.72647	D	-0.59501414138019	0.19096	0.9967154	-0.241928809457968	0.30050	1.68868	0.999999996512526	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.67	5.67	0.87673	5.133000	0.64605	5.820000	0.50076	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	15.903	0.79185	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	886.33	34	chr6	119188574	.	A	G	886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.56;DP=704;ExcessHet=0;FS=4.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-3.503;SOR=0.316	GT:AD:DP:GQ:PL	0/1:43,38:81:99:900,0,1163	18	0	1	0
chr6	129349348	129349348	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon31:c.C4487T:p.A1496V,LAMA2:NM_001079823:exon31:c.C4487T:p.A1496V	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	193821	Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|Merosin_deficient_congenital_muscular_dystrophy|not_specified|not_provided|LAMA2-related_muscular_dystrophy|LAMA2-related_disorder|Muscular_dystrophy,_limb-girdle,_autosomal_recessive_23	MedGen:C1842898|MONDO:MONDO:0011925,MedGen:C1263858,OMIM:607855,Orphanet:258|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788|.|MONDO:MONDO:0029136,MedGen:C4748327,OMIM:618138,Orphanet:565837	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.707	0.0904007695066	0.0030	0.00279553	0.0033	0.0004	0.0021	0	0.0042	0.0051	0.0044	0.0002	0.0032018	495	154602	rs147077184	0.0037	0.0037	0.0038	0.0036	0.0037	0.0036	0.0036	0.0036	0.0036	0.0007	0.0030	0.0238	0	0.0033	0.0026	0.0037	0.0045	0.0003	0.0033	0.0033	0.0036	0.0031	0.0050	0.0031	0.0030	0.0041	0.0038	0.0006	0.0077	0.0050	0.0253	0	0.0027	0.0034	0.0039	0.0066	0.0002	0.008	0.58626	D	.	.	.	0.992	0.64738	D	0.953	0.69275	D	0.000001	0.62929	D	0.057949	0.999998	0.58761	D	1.875	0.49914	L	0.01	0.62459	T	-3.31	0.65972	D	0.679	0.68603	-0.5504	0.66772	T	0.292	0.66364	T	10	0.032247603	0.01373	T	0.090401	0.75510	D	0.707	0.89514	.	.	0.754865313577	0.75264	0.4663440049027086	0.46553	0.372364583653	0.38730	0.537038445473	0.44027	T	0.034141	0.46418	T	-0.226162	0.17160	T	-0.0977867	0.63568	T	0.0151663096191734	0.00331	T	0.880812	0.59928	D	0.35735852	0.57635	0.25965613	0.51717	0.34192947	0.56432	0.26140735	0.51917	-7.786	0.59602	D	0.7295250769559025	0.81113	0.152	0.33687	B	.;.;.	.;.;.	3.478947	0.48568	22.6	0.99908778998121939	0.97875	0.98154	0.80066	D	AEFBI	0.553701	0.56484	D	0.310410150340222	0.56683	3.833346	0.221244135255235	0.51029	3.288973	0.999916251424678	0.45857	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.98	5.09	0.68647	4.298000	0.58863	4.823000	0.45134	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.305000	0.24618	0.133:0.867:0.0:0.0	16.359	0.83078	824	0.40336	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.015152	0.006793	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	609.33	34	chr6	129349348	.	C	T	609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=722;ExcessHet=0;FS=4.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.41;ReadPosRankSum=-0.141;SOR=1.255	GT:AD:DP:GQ:PL	0/1:66,29:95:99:623,0,1673	18	0	1	0
chr6	134986122	134986122	G	A	exonic	HBS1L	.	nonsynonymous SNV	HBS1L:NM_001145158:exon10:c.C1241T:p.S414F,HBS1L:NM_006620:exon11:c.C1367T:p.S456F,HBS1L:NM_001363686:exon12:c.C875T:p.S292F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0715356323271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.757e-06	3.42e-06	2.746e-06	2.769e-06	4.664e-05	6.5e-07	4.4e-07	1.589e-05	9.34e-06	0	0	0	0	0	0	0	0	4.664e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.51248	D	0.036	0.53072	D	0.996	0.70673	D	0.973	0.72923	D	0.000000	0.84330	D	0.082384	0.999882	0.50402	D	2.925	0.84406	M	0.97	0.42502	T	-2.91	0.63669	D	0.314	0.38643	-0.4380	0.70797	T	0.240	0.60786	T	10	0.723108	0.73794	D	0.071536	0.71294	D	0.487	0.77528	0.711	0.84691	0.431327455105	0.42751	0.6512994224180267	0.65065	0.681404654842	0.60044	0.462738782167	0.33687	T	0.252598	0.62300	T	0.103358	0.64653	D	-0.0893092	0.64214	T	0.99257093667984	0.83089	D	0.963204	0.86559	D	0.5122044	0.67807	0.5179194	0.72147	0.5122044	0.67808	0.5179194	0.72147	-11.769	0.83787	D	.	.	0.469	0.69226	A	.;.;.;.;.	.;.;.;.;.	4.497949	0.70319	25.5	0.99771234585883672	0.85918	0.93803	0.59236	D	AEFBI	0.596772	0.59081	D	0.631400495504965	0.75171	6.258853	0.59785607422195	0.74785	6.196667	0.999689834518696	0.41756	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	6.06	5.19	0.71428	5.520000	0.66794	8.692000	0.78080	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.4055:0.5945:0.0	15.861	0.78801	914	0.21048	Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain;.;Transcription factor, GTP-binding domain|Transcription factor, GTP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1012.33	34	chr6	134986122	.	G	A	1012.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.085;DP=713;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.095;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,41:78:99:1026,0,921	18	0	1	0
chr6	137017061	137017061	G	A	exonic	IL20RA	.	nonsynonymous SNV	IL20RA:NM_014432:exon2:c.C131T:p.T44I	.	430	1090	2	0	0	2	0.00091659	.	.	.	3444567	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.522	0.0505545114386	.	.	6.606e-05	0	0	0	0	4.507e-05	0	0.0003	5.17e-05	8	154602	rs764221099	3.011e-05	3.01e-05	1.77e-05	4.264e-05	0.0003	2.283e-05	2.033e-05	0.0002	0.0002	0	0	0	0	0	0.0003	1.17e-05	3.312e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.15098	T	0.097	0.55341	T	0.968	0.56581	D	0.773	0.56974	P	0.021653	0.26791	N	0.431861	0.896877	0.81001	D	2.95	0.84923	M	-0.85	0.74371	T	-3.15	0.64132	D	0.329	0.36989	0.006	0.82373	D	0.488	0.80535	T	10	0.33502632	0.50667	T	0.050555	0.64291	D	0.522	0.79704	0.484	0.56621	0.909024170258	0.90811	0.3302338131611594	0.32936	0.876934820045	0.69612	0.603723585606	0.53429	T	0.183523	0.53589	T	-0.0613946	0.42688	T	-0.00399916	0.70076	D	0.631890416145325	0.37696	D	0.691931	0.37456	T	0.22421932	0.45060	0.22750956	0.47763	0.22421932	0.45060	0.22750956	0.47762	-8.075	0.61580	D	.	.	0.287	0.51942	B	.;.	.;.	3.245614	0.44319	21.9	0.9985534272446116	0.93458	0.74585	0.36490	D	AEFDBI	0.357539	0.44853	N	0.672783036335974	0.77849	6.754675	0.648935070736163	0.78531	6.895099	0.999999998851917	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.61	5.61	0.85347	1.760000	0.38059	5.085000	0.47302	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	15.145	0.72323	791	0.46100	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	748.33	35	chr6	137017061	.	G	A	748.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.894;DP=708;ExcessHet=0;FS=3.327;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.207;SOR=0.385	GT:AD:DP:GQ:PL	0/1:35,32:67:99:762,0,993	18	0	1	0
chr6	156778665	156778665	G	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.G985A:p.G329S,ARID1B:NM_001374828:exon1:c.G985A:p.G329S,ARID1B:NM_017519:exon1:c.G985A:p.G329S,ARID1B:NM_001371656:exon2:c.G985A:p.G329S	Coffin-Siris syndrome 1, Autosomal dominant	1	1454	61	6	0	73	0.0244884	.	.	.	207349	not_specified|Inborn_genetic_diseases|not_provided|Coffin-Siris_syndrome_1	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	.	.	0.000998403	0.0042	0	0	0	.	0.0105	0.0085	0.0020	0.0005304	82	154602	rs375160616	0.0057	0.0054	0.0059	0.0056	0.0212	0.0056	0.0056	0.0179	0.0167	0.0019	0.0047	0.0101	3.289e-05	0.0014	0.0212	0.0063	0.0058	0.0025	0.0047	0.0047	0.0055	0.0040	0.0076	0.0044	0.0043	0.0065	0.0060	0.0012	0.0541	0.0076	0.0090	0	0.0014	0.0208	0.0063	0.0077	0.0019	0.0	0.91255	D	0.502	0.11115	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	0.99806	0.22374	N	1.1	0.28011	L	3.73	0.03982	T	-0.54	0.16598	N	0.119	0.10911	-0.9001	0.47983	T	0.003	0.00897	T	9	0.0049165785	0.00105	T	.	.	.	0.060	0.17295	.	.	0.0934897674506	0.08844	0.13403362991275802	0.13327	0.291417743539	0.31552	0.872212529182	0.92884	D	0.01296	0.11294	T	-0.646012	0.00077	T	-0.697839	0.05944	T	0.0762739138226754	0.09504	T	0.514549	0.19192	T	0.19176523	0.40818	0.24653356	0.50165	0.15059175	0.34276	0.19889103	0.43743	-4.616	0.32372	T	.	.	0.078	0.06756	B	.;.;.;.	.;.;.;.	2.943074	0.39137	20.9	0.97329888956382771	0.33418	0.06818	0.12842	N	AEFDBHCIJ	0.048428	0.08264	N	-0.610752536718014	0.18620	0.9681884	-0.499574705844725	0.22166	1.202612	0.999999168842093	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.47417	0.07244	0	0.492483	0.08430	1	.	.	2.65	1.31	0.20837	0.438000	0.21277	7.060000	0.57403	0.397000	0.20528	0.992000	0.37556	1.000000	0.68203	0.962000	0.52141	0.4178:0.0:0.5822:0.0	4.791	0.12619	931	0.16308	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015432	0.000000	0.000000	0.053922	0.000000	0.000000	0.000000	0.014286	0.07895	2670.79	33	chr6	156778665	.	G	A	2670.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.35;DP=768;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.589;SOR=0.719	GT:AD:DP:GQ:PL	0/1:13,24:37:99:599,0,284	16	0	3	0
chr6	160048478	160048478	C	G	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon18:c.C2449G:p.L817V	Hepatocellular carcinoma, somatic	427	993	99	3	0	105	0.0502152	.	.	.	699422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0062	0.0071885	0.0094	0.0009	0.0062	0	0.0056	0.0092	0.0154	0.0237	0.0086739	1341	154602	rs8191808	0.0072	0.0072	0.0064	0.0080	0.0397	0.0071	0.0071	0.0355	0.0339	0.0009	0.0059	0.0307	5.038e-05	0.0058	0.0397	0.0056	0.0098	0.0237	0.0059	0.0059	0.0059	0.0059	0.0215	0.0056	0.0055	0.0182	0.0169	0.0010	0.0066	0.0050	0.0288	0.0006	0.0061	0.0442	0.0069	0.0085	0.0215	0.088	0.32296	T	0.012	0.63918	D	0.981	0.59675	D	0.832	0.59730	P	0.000462	0.44119	D	0.151190	0.999783	0.49076	D	.	.	.	3.84	0.03675	T	-1.35	0.33598	N	0.529	0.55799	-1.0289	0.20811	T	0.017	0.06998	T	10	0.005435288	0.00120	T	.	.	.	0.125	0.34456	.	.	0.391520894214	0.38767	0.6234013171663959	0.62273	0.452284579307	0.44955	0.323376655579	0.13932	T	0.135816	0.46784	T	-0.458906	0.00998	T	-0.413039	0.31874	T	0.0227990608119091	0.01000	T	0.867113	0.56785	D	0.13013394	0.30373	0.119077824	0.28742	0.1522377	0.34567	0.119077824	0.28741	-6.3	0.48722	T	.	.	0.127	0.27069	B	.;.	.;.	3.252730	0.44454	21.9	0.99696098389600929	0.80316	0.90954	0.52577	D	AEFBI	0.374056	0.45910	N	0.461876900785595	0.64879	4.752795	0.419132398140247	0.62757	4.496646	0.998863673749533	0.37845	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	4.31	0.50718	1.419000	0.34400	3.200000	0.36746	0.599000	0.40250	0.796000	0.29669	0.998000	0.33993	0.927000	0.46353	0.0:0.8324:0.0:0.1676	10.337	0.43037	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025706	0.005051	0.014946	0.049708	0.000000	0.025862	0.036810	0.018939	0.02632	2137.33	34	chr6	160048478	.	C	G	2137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.85;DP=759;ExcessHet=0;FS=6.461;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0;SOR=0.96	GT:AD:DP:GQ:PL	0/1:56,83:139:99:2151,0,1355	18	0	1	0
chr6	167306009	167306009	A	G	exonic	UNC93A	.	nonsynonymous SNV	UNC93A:NM_001143947:exon5:c.A809G:p.K270R,UNC93A:NM_018974:exon6:c.A935G:p.K312R	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0139672336391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.623	0.07368	T	0.001	0.07471	B	0.005	0.11217	B	0.000922	0.41028	N	0.272691	0.923849	0.28589	N	0.43	0.12624	N	-1.32	0.79761	T	-0.98	0.28703	N	0.106	0.11340	-1.0228	0.22802	T	0.105	0.38341	T	10	0.109689504	0.20472	T	0.013967	0.33765	T	0.218	0.51265	0.488	0.57257	0.485420873983	0.48173	0.35798931935092265	0.35712	0.194667570148	0.21805	0.309658646584	0.11855	T	0.003357	0.02758	T	-0.0624051	0.42530	T	-0.327417	0.41755	T	0.0822040364146233	0.10267	T	0.70423	0.31713	T	0.0343406	0.03834	0.047716647	0.06934	0.0343406	0.03834	0.047716647	0.06933	-3.882	0.26867	T	.	.	0.065	0.02038	B	.;.	.;.	0.021259	0.04431	1.162	0.28210000301379051	0.01438	0.41578	0.26688	N	AEFDGBCI	0.101414	0.20368	N	-0.907258198512308	0.10670	0.5110731	-0.858016939681972	0.13094	0.6774364	0.994259046972676	0.33555	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	4.73	0.921	0.18529	0.843000	0.27293	1.179000	0.24681	0.733000	0.85838	0.990000	0.36992	0.985000	0.30750	0.005000	0.06747	0.7375:0.0:0.2625:0.0	7.821	0.28450	994	0.00715	Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1317.33	34	chr6	167306009	.	A	G	1317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.794;DP=806;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.543;SOR=0.699	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1331,0,1847	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,57:59:95:1|1:170561949_GCAA_G:2203,95,0:170561949	0	12	7	0
chr7	856947	856947	T	G	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367687:exon17:c.T1880G:p.L627R	.	1188	331	1	2	0	5	0.00749625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0275559	.	.	.	.	.	.	.	.	0.0101045	263	26028	rs79768726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.0077	0.0056	0.0097	0.1387	0.0072	0.0071	0.1302	0.1269	0.0002	0	0.0008	0.0037	0.1387	0.0242	0	0.0016	0.0057	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	103.93	.	chr7	856947	.	T	G	103.93	.	AC=2;AF=0.071;AN=28;DP=28;ExcessHet=0;FS=0;InbreedingCoeff=0.2474;MLEAC=2;MLEAF=0.071;MQ=60;QD=25.98;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:121,12,0	13	1	0	5
chr7	856983	856983	C	G	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001367687:exon17:c.C1916G:p.S639C	.	1215	306	1	0	0	1	0.00163132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0275559	.	.	.	.	.	.	.	.	0.0102198	266	26028	rs77162371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.0077	0.0056	0.0097	0.1394	0.0072	0.0071	0.1309	0.1276	0.0002	0	0.0008	0.0037	0.1394	0.0241	0	0.0016	0.0057	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	75.42	.	chr7	856983	.	C	G	75.42	.	AC=2;AF=0.083;AN=24;DP=26;ExcessHet=0;FS=0;InbreedingCoeff=0.2852;MLEAC=2;MLEAF=0.083;MQ=60;QD=25.14;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	11	1	0	7
chr7	4786298	4786298	C	T	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon9:c.C713T:p.T238I,AP5Z1:NM_014855:exon10:c.C1181T:p.T394I	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3408111	Hereditary_spastic_paraplegia_48|Retinal_dystrophy|Inborn_genetic_diseases	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|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	.	.	.	.	.	.	.	.	0.101	0.0176527255155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414208753	7.528e-06	7.525e-06	8.171e-06	6.878e-06	1.16e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.995e-06	0	1.16e-05	6.569e-06	6.566e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.089	0.32141	T	0.061	0.45530	T	0.969	0.56768	D	0.576	0.50064	P	0.147377	0.18082	N	0.591281	1	0.08975	N	2.565	0.75005	M	0.84	0.47477	T	-2.88	0.60507	D	0.474	0.50958	-0.9467	0.41532	T	0.152	0.48101	T	10	0.20505011	0.36718	T	0.017653	0.39432	T	0.101	0.28911	0.393	0.41770	0.0986583533028	0.09354	0.3229307581645778	0.32206	.	.	0.335729211569	0.15798	T	0.271599	0.64393	T	-0.155661	0.27430	T	-0.461373	0.26450	T	0.69764918088913	0.40607	D	0.808019	0.45805	T	0.058081448	0.11641	0.08942579	0.20911	0.058081448	0.11641	0.08942579	0.20911	-7.528	0.57808	D	0.5870630938763597	0.65387	0.255	0.48938	B	.;.	.;.	1.539739	0.19747	14.42	0.99760343063019308	0.85011	0.22957	0.21919	N	AEFGBCI	0.116346	0.22838	N	-0.231903685370525	0.31832	1.788884	-0.385210398986326	0.25437	1.398867	0.279007837403946	0.18969	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.29	1.21	0.20240	0.023000	0.13424	0.283000	0.16788	0.596000	0.33519	0.000000	0.06391	0.003000	0.18671	0.815000	0.38403	0.1404:0.4268:0.4328:0.0	10.254	0.42561	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	863.33	35	chr7	4786298	.	C	T	863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.312;DP=689;ExcessHet=0;FS=3.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=1.72;SOR=1.236	GT:AD:DP:GQ:PL	0/1:22,35:57:99:877,0,578	18	0	1	0
chr7	4788197	4788197	C	T	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon11:c.C1030T:p.L344F,AP5Z1:NM_014855:exon12:c.C1498T:p.L500F	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	3408112	Hereditary_spastic_paraplegia_48|Retinal_dystrophy|Inborn_genetic_diseases	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|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	.	.	.	.	.	.	.	.	0.084	0.00586447665395	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs756486052	1.561e-05	1.573e-05	1.824e-05	1.292e-05	6.25e-05	1.022e-05	8.73e-06	2.426e-05	1.526e-05	0	0	0	0	0	0	1.473e-05	1.714e-05	6.25e-05	6.571e-06	6.566e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.26	0.16574	T	0.528	0.10173	T	0.028	0.19712	B	0.013	0.16460	B	0.918415	0.08504	U	0.956757	1	0.08975	N	1.555	0.39373	L	0.78	0.49358	T	-1.52	0.36980	N	0.136	0.13341	-0.9691	0.37386	T	0.107	0.38955	T	10	0.04414776	0.03340	T	0.005864	0.15251	T	0.084	0.24469	0.15	0.05339	0.0138822411134	0.00435	0.15571927724212892	0.15492	.	.	0.465329647064	0.34041	T	0.020624	0.16203	T	-0.311241	0.07639	T	-0.684853	0.06691	T	0.0210359779779336	0.00804	T	0.525947	0.17303	T	0.026795613	0.01782	0.046024315	0.06324	0.026795613	0.01782	0.046024315	0.06324	-5.971	0.46036	T	0.21419529359852904	0.28775	0.118	0.23952	B	.;.	.;.	1.107844	0.14925	11.44	0.91786760365567588	0.21090	0.25484	0.22712	N	AEFDGBCI	0.077448	0.15603	N	-0.853828835366547	0.11956	0.579955	-0.880686097243137	0.12552	0.6463135	0.0802325200631251	0.15840	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.58	-1.29	0.08805	-0.217000	0.09258	-3.310000	0.02887	-1.159000	0.01414	0.000000	0.06391	0.000000	0.08366	0.293000	0.24333	0.1137:0.333:0.4663:0.0869	6.004	0.18763	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	0	0	0.000510	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.02632	1092.33	37	chr7	4788197	.	C	T	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=743;ExcessHet=0;FS=2.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.322;SOR=1.062	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1106,0,1223	18	0	1	0
chr7	5313185	5313187	CTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7704_7706del:p.S2577del	.	330	1123	67	0	2	69	0.0289667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0010	0.0032	0	0	0.0071	0.0064	0.0226	3.84e-05	1	26028	rs771326389	0.0008	0.0019	0.0004	0.0012	0.0011	0.0008	0.0007	0.0008	0.0008	9.554e-05	0.0004	0.0002	2.803e-05	0.0003	0.0011	0.0009	0.0007	0.0009	1.319e-05	0.0004	1.29e-05	1.351e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	6.566e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	653.4	35	chr7	5313184	.	GCTA	G	653.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.764;DP=879;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1179;MLEAC=4;MLEAF=0.105;MQ=58.79;MQRankSum=-7.241;QD=2.43;ReadPosRankSum=2.53;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,6:54:99:0|1:5313184_GCTA_G:108,0,1928:5313184	15	0	4	0
chr7	5313191	5313199	CTGCCACTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7692_7700del:p.G2566_S2568del	.	329	1130	62	0	1	63	0.0267011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0124	0.0010	0.0031	0	0	0.0063	0.0065	0.0200	3.84e-05	1	26028	rs770288182	0.0007	0.0015	0.0004	0.0011	0.0008	0.0007	0.0007	0.0008	0.0008	9.519e-05	0.0003	0.0002	2.799e-05	0.0002	0.0002	0.0008	0.0007	0.0003	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	618.39	35	chr7	5313190	.	GCTGCCACTA	G	618.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.811;DP=885;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=58.81;MQRankSum=-8.028;QD=2.21;ReadPosRankSum=2.35;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,6:54:99:0|1:5313184_GCTA_G:108,0,1927:5313184	15	0	4	0
chr7	21617725	21617725	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon23:c.A4202G:p.Q1401R	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1473	48	1	0	50	0.0166889	.	.	.	252688	not_specified|Primary_ciliary_dyskinesia|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.237	.	0.0010	0.00259585	0.0026	0	0.0006	0	0	0.0017	0.0034	0.0114	0.0023092	357	154602	rs199629774	0.0016	0.0016	0.0013	0.0019	0.0112	0.0015	0.0015	0.0107	0.0104	0.0003	0.0003	0.0049	2.519e-05	0.0001	0.0101	0.0009	0.0018	0.0112	0.0010	0.0010	0.0008	0.0012	0.0083	0.0009	0.0008	0.0063	0.0055	0.0001	0	0.0006	0.0058	0.0002	0	0.0034	0.0011	0.0005	0.0083	0.083	0.33091	T	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999979	0.53665	D	.	.	.	0.27	0.59176	T	-3.39	0.66896	D	0.586	0.62950	-0.8927	0.48696	T	0.192	0.54477	T	9	0.010043949	0.00225	T	.	.	.	0.237	0.54074	.	.	0.511503663882	0.50791	0.20893293679731403	0.20809	.	.	0.381819546223	0.22515	T	0.41079	0.76543	T	-0.368029	0.03695	T	-0.291036	0.45666	T	0.0379698708326417	0.03327	T	0.854315	0.54093	D	0.41109198	0.61492	0.391699	0.63934	0.44120803	0.63481	0.39904547	0.64478	-6.735	0.52073	T	0.5885128790951722	0.65531	0.098	0.16099	B	.;.;.	.;.;.	2.859971	0.37787	20.6	0.99761483852063804	0.85091	0.74822	0.36612	D	AEFBCI	0.597612	0.59133	D	0.25268694175051	0.53772	3.544679	0.276227376072199	0.54154	3.581354	0.999999802838549	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.648885	0.59868	0	.	.	5.6	4.45	0.53365	5.182000	0.64897	4.171000	0.42274	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.923:0.0:0.077:0.0	10.531	0.44164	669	0.61081	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.006793	0.002924	0.000000	0.000000	0.009146	0.026515	0.02632	1618.33	34	chr7	21617725	.	A	G	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.059;DP=802;ExcessHet=0;FS=5.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.12;SOR=0.508	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1632,0,2139	18	0	1	0
chr7	21744490	21744490	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon50:c.A8207G:p.H2736R	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1437911	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00115693688669	.	.	.	.	.	.	.	.	.	.	.	.	.	rs956981336	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.076480	0.21161	N	0.553128	0.998676	0.21993	N	.	.	.	1.92	0.23082	T	2.83	0.00167	N	0.129	0.14763	-0.9645	0.38310	T	0.021	0.08870	T	9	0.06853703	0.09707	T	0.001157	0.01459	T	0.044	0.11924	0.56	0.67958	0.168933306366	0.16529	0.2589773304811134	0.25811	.	.	0.204482778907	0.00599	T	0.060945	0.31522	T	-0.438804	0.01314	T	-0.785223	0.02299	T	0.0464351775292403	0.04862	T	0.628837	0.24395	T	0.04259421	0.06487	0.0632749	0.12510	0.04259421	0.06487	0.0632749	0.12510	-2.241	0.04244	T	0.08490558911484472	0.04735	0.056	0.00496	B	.;.;.	.;.;.	-0.618862	0.01521	0.097	0.13721626109692214	0.00280	0.04708	0.10398	N	AEFBI	0.045970	0.07580	N	-0.990936208901413	0.08797	0.4138275	-0.922245297356895	0.11570	0.5902183	1.55381616399523E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	1.63	0.22882	-0.264000	0.08683	-1.396000	0.05538	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.550000	0.30174	0.374:0.0:0.4974:0.1286	5.683	0.17058	860	0.33753	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1077.33	34	chr7	21744490	.	A	G	1077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.07;DP=718;ExcessHet=0;FS=1.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.925;SOR=0.884	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1091,0,962	18	0	1	0
chr7	30836700	30836700	C	T	exonic	MINDY4	.	nonsynonymous SNV	MINDY4:NM_032222:exon7:c.C1175T:p.S392L	.	431	1074	16	1	0	18	0.00831025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0042	0.00259585	0.0041	0.0007	0.0033	0	0.0003	0.0043	0.0033	0.0100	0.0040944	633	154602	rs187366942	0.0051	0.0051	0.0049	0.0052	0.0090	0.0050	0.0049	0.0085	0.0082	0.0009	0.0020	0.0051	0	0.0008	0.0036	0.0054	0.0047	0.0090	0.0031	0.0031	0.0031	0.0032	0.0098	0.0029	0.0028	0.0075	0.0068	0.0009	0	0.0022	0.0049	0	0.0004	0.0068	0.0048	0.0043	0.0098	0.122	0.27663	T	0.286	0.21277	T	0.491	0.36960	P	0.028	0.21332	B	0.081677	0.02360	N	1.749720	1	0.08975	N	.	.	.	2.84	0.10674	T	-1.05	0.27463	N	0.1	0.08227	-0.9963	0.30946	T	0.018	0.07234	T	10	0.004898697	0.00105	T	.	.	.	0.031	0.07369	.	.	0.0846915920261	0.08053	0.16614138891844307	0.16534	0.0412125781724	0.04422	0.297259032726	0.09993	T	0.009933	0.09012	T	-0.684331	0.00045	T	-0.749089	0.03522	T	0.00169016923033653	0.00017	T	0.460354	0.13329	T	0.0415969	0.06155	0.034313027	0.02475	0.0415969	0.06155	0.034313027	0.02475	-4.412	0.29719	T	.	.	0.079	0.07365	B	.	.	0.641945	0.10104	6.850	0.93641887841551796	0.23522	0.02309	0.06629	N	AEFDBI	0.046229	0.07652	N	-1.00619972359629	0.08474	0.3974801	-1.09882773476679	0.07723	0.3768303	0.0177513363852835	0.12986	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.67	0.597	0.16685	0.033000	0.13642	-0.357000	0.09702	-0.885000	0.02425	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.5152:0.3044:0.1804	5.714	0.17221	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	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	0.000000	0.000000	0.008621	0.021341	0.011364	0.02632	558.33	33	chr7	30836700	.	C	T	558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.016;DP=714;ExcessHet=0;FS=1.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.73;ReadPosRankSum=-0.01;SOR=0.488	GT:AD:DP:GQ:PL	0/1:57,26:83:99:572,0,1568	18	0	1	0
chr7	38391869	38391869	G	A	exonic	AMPH	.	nonsynonymous SNV	AMPH:NM_139316:exon18:c.C1631T:p.T544M,AMPH:NM_001635:exon19:c.C1757T:p.T586M	.	430	1091	1	0	0	1	0.000458085	.	.	.	722500	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.0274119335809	0.0022	0.000998403	0.0019	0.0005	0.0017	0	0.0003	0.0027	0.0011	0.0012	0.0020116	311	154602	rs142938499	0.0029	0.0029	0.0030	0.0029	0.0034	0.0029	0.0028	0.0034	0.0033	0.0007	0.0021	0.0036	0.0003	0.0002	0.0007	0.0034	0.0024	0.0009	0.0018	0.0018	0.0019	0.0017	0.0027	0.0016	0.0015	0.0024	0.0022	0.0008	0	0.0016	0.0061	0	0.0002	0	0.0027	0.0009	0.0012	0.133	0.26965	T	0.095	0.54934	T	0.007	0.16265	B	0.006	0.12133	B	0.338600	0.04174	N	1.449630	1	0.08975	N	0.49	0.13296	N	0.1	0.61326	T	-1.28	0.33798	N	0.077	0.05162	-1.0199	0.23747	T	0.102	0.37718	T	10	0.006348312	0.00143	T	0.027412	0.50222	D	0.031	0.07369	.	.	0.663861624897	0.66103	0.2104287327896841	0.20958	0.198447039188	0.22225	0.309890270233	0.11891	T	0.154699	0.49610	T	-0.540574	0.00332	T	-0.552324	0.17103	T	0.00484395711718842	0.00052	T	0.462454	0.13421	T	0.015107383	0.00122	0.03897273	0.03885	0.015107383	0.00122	0.03897273	0.03885	-5.655	0.43291	T	.	.	0.082	0.08512	B	.;.	.;.	1.056249	0.14379	10.95	0.96287900388240644	0.29305	0.04035	0.09473	N	AEFDBI	0.089950	0.18230	N	-0.969620451101046	0.09257	0.4373864	-0.984189544291016	0.10140	0.5088352	0.00530488534102459	0.10895	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.75	0.271	0.14894	-0.623000	0.05643	0.082000	0.14403	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2698:0.2601:0.3249:0.1452	1.453	0.02236	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1027.33	59	chr7	38391869	.	G	A	1027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.315;DP=883;ExcessHet=0;FS=3.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.04;SOR=0.35	GT:AD:DP:GQ:PL	0/1:33,39:72:99:1041,0,840	18	0	1	0
chr7	45080752	45080752	G	A	exonic	NACAD	.	nonsynonymous SNV	NACAD:NM_001146334:exon7:c.C4562T:p.A1521V	.	408	1106	8	0	0	8	0.0036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.015401626754	0.0002	0.000798722	0.0009	0	0	0	0	0.0005	0	0.0017	0.0001552	24	154602	rs377008938	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0020	0.0017	3.165e-05	0.0002	0.0004	0	0	0.0032	8.527e-05	0.0005	0.0020	0.0001	0.0001	0.0001	0.0002	0.0023	8.658e-05	7.251e-05	0.0013	0.0010	0	0	0.0003	0.0003	0	0	0	4.411e-05	0.0005	0.0023	0.002	0.72154	D	0.029	0.54541	D	0.994	0.66517	D	0.542	0.48916	P	0.044721	0.23608	N	0.441004	0.976431	0.25374	N	1.61	0.41143	L	2.69	0.12268	T	-2.24	0.50175	N	0.18	0.19459	-1.0756	0.08225	T	0.029	0.12322	T	10	0.010412812	0.00232	T	0.015402	0.36109	T	0.123	0.34020	.	.	0.454426139905	0.45068	0.33423516624792166	0.33336	0.0087170718427	0.00791	0.494011521339	0.37996	T	0.019457	0.15501	T	-0.510061	0.00502	T	-0.511919	0.21119	T	0.097372351411092	0.12065	T	0.967003	0.87984	D	0.09993744	0.23592	0.17105918	0.39261	0.09993744	0.23592	0.17105918	0.39260	-6.915	0.53410	T	.	.	0.247	0.48124	B	.	.	4.411955	0.68264	25.2	0.99906285539164219	0.97651	0.95125	0.63529	D	AEFDBI	0.463248	0.51224	N	0.206917990082091	0.51533	3.333831	0.215009899648274	0.50680	3.257544	0.668594599347881	0.22350	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.664235	0.64389	0	.	.	4.36	3.45	0.38602	5.910000	0.69668	5.817000	0.50053	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0922:0.0:0.9078:0.0	11.537	0.49898	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002119	0.000000	0.006787	0.003623	0.000000	0.000000	0.000000	0.000000	0.05263	5301.83	39	chr7	45080752	.	G	A	5301.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.54;DP=1314;ExcessHet=0.119;FS=2.481;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-1.071;SOR=0.561	GT:AD:DP:GQ:PL	0/1:58,106:164:99:2905,0,1500	17	0	2	0
chr7	45574791	45574791	C	T	exonic	ADCY1	.	nonsynonymous SNV	ADCY1:NM_021116:exon1:c.C248T:p.A83V	.	436	1085	1	0	0	1	0.000460617	.	.	.	1307069	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.208	.	.	0.00159744	0.0059	0	0.0013	0	0	0	0.0053	0.0150	0.001022	158	154602	rs375141353	0.0005	0.0005	0.0003	0.0008	0.0087	0.0005	0.0005	0.0082	0.0080	6.922e-05	0	0	0	0	0.0002	1.842e-06	0.0005	0.0087	0.0002	0.0002	7.769e-05	0.0004	0.0073	0.0002	0.0002	0.0054	0.0047	0	0	0	0	0	0	0	0	0.0005	0.0073	0.317	0.13699	T	0.244	0.24123	T	0.715	0.42183	P	0.054	0.25828	B	0.324801	0.14211	N	0.532223	1	0.81001	D	1.245	0.31408	L	-1.32	0.79761	T	-1.09	0.28290	N	0.201	0.22228	-0.8008	0.55097	T	0.215	0.57652	T	10	0.007783115	0.00177	T	.	.	.	0.208	0.49714	0.56	0.67958	0.829480766904	0.82786	0.27737573548685135	0.27650	1.25681484625	0.81929	0.799363732338	0.81866	T	0.246316	0.61576	T	-0.380063	0.03113	T	-0.311319	0.43515	T	0.0432191828600293	0.04278	T	0.551245	0.19007	T	0.042310473	0.06394	0.04432391	0.05718	0.044729725	0.07199	0.04797926	0.07030	-5.6	0.42792	T	.	.	0.094	0.14339	B	.	.	2.601158	0.33767	19.44	0.98746896793743244	0.45587	0.58543	0.30670	D	ALL	0.159174	0.28493	N	-0.41990690664501	0.24772	1.339946	-0.41250691864309	0.24629	1.34981	0.99999999999717	0.74766	0.685219	0.55550	0	0.609123	0.50646	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	3.69	0.505	0.16157	0.678000	0.24956	1.748000	0.28453	0.417000	0.20760	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.3957:0.3718:0.2325:0.0	4.776	0.12551	929	0.16858	Adenylate cyclase, 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	1	0	1	0	0.001524	0.000000	0.001366	0.002994	0.000000	0.008772	0.000000	0.000000	0.02632	809.33	33	chr7	45574791	.	C	T	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.056;DP=698;ExcessHet=0;FS=2.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.661;SOR=1.019	GT:AD:DP:GQ:PL	0/1:34,32:66:99:823,0,824	18	0	1	0
chr7	48272001	48272001	A	C	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon17:c.A2335C:p.K779Q	.	423	1096	3	0	0	3	0.00136674	.	.	.	2379826	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.00867703963465	.	0.000199681	8.377e-05	0	8.766e-05	0	0	0.0001	0	6.111e-05	7.12e-05	11	154602	rs550560732	7.459e-05	7.456e-05	6.672e-05	8.254e-05	0.0076	6.317e-05	5.875e-05	0.0058	0.0052	2.988e-05	6.715e-05	0	0	0	0.0076	3.688e-05	0.0003	2.32e-05	3.283e-05	3.281e-05	3.855e-05	2.685e-05	2.941e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0.0009	0	0.127	0.27080	T	0.276	0.21947	T	.	.	.	.	.	.	0.019212	0.01505	N	2.405560	1	0.08975	N	.	.	.	-2.3	0.87671	D	-0.64	0.18670	N	0.077	0.05162	-0.6396	0.63163	T	0.388	0.74312	T	10	0.032434702	0.01395	T	0.008677	0.22927	T	0.211	0.50185	.	.	0.383760037723	0.37989	0.059516028561455984	0.05891	0.0273965839986	0.02802	0.228852167726	0.01884	T	.	.	.	-0.362727	0.03978	T	-0.49913	0.22439	T	0.0655356244404991	0.08010	T	0.349965	0.07784	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20896	B	.	.	0.355036	0.07277	3.885	0.58876916943562518	0.06093	0.04908	0.10658	N	AEBI	0.077438	0.15601	N	-1.53279127252844	0.01638	0.07161355	-1.55393295261284	0.01949	0.08897055	8.62339334259741E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	-3.98	0.03810	-0.046000	0.11937	0.588000	0.19789	-0.837000	0.02821	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.3656:0.2654:0.369:0.0	6.045	0.18980	706	0.57215	.	.	.	.	.	.	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	0.003021	0.005051	0.004076	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	2003.33	34	chr7	48272001	.	A	C	2003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.051;DP=1235;ExcessHet=0;FS=2.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.948;SOR=0.885	GT:AD:DP:GQ:PL	0/1:72,75:147:99:2017,0,2029	18	0	1	0
chr7	57120274	57120274	A	G	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon4:c.T1141C:p.Y381H,ZNF479:NM_033273:exon5:c.T1141C:p.Y381H	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00131292631829	.	0.000798722	0.0005	0.0001	0	0	0	0	0	0.0032	0.0001537	4	26028	rs564686669	0.0002	0.0002	9.16e-05	0.0003	0.0033	0.0002	0.0002	0.0030	0.0029	0	0	0	2.531e-05	0	0.0002	0	0.0001	0.0033	0.0001	0.0001	9.045e-05	0.0002	0.0046	9.803e-05	8.309e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	0.019	0.50132	D	0.019	0.59159	D	0.998	0.73220	D	0.993	0.81110	D	.	.	.	.	1	0.08975	N	1.02	0.25474	L	1.99	0.21666	T	-4.61	0.79060	D	0.221	0.33469	-1.0364	0.18419	T	0.057	0.23942	T	9	0.007793814	0.00177	T	0.001313	0.01834	T	0.067	0.19503	0.582	0.70861	0.301122078929	0.29733	0.033209014860681334	0.03268	2.23657706264	0.95980	0.444807589054	0.31235	T	0.072919	0.45159	T	-0.557001	0.00264	T	-0.575606	0.14939	T	0.167784190614551	0.18428	T	0.151485	0.01286	T	0.030823177	0.02813	0.0753313	0.16573	0.030823177	0.02812	0.0753313	0.16572	-8.092	0.61696	D	.	.	0.525	0.65859	A	.;.;.	.;.;.	2.352009	0.30154	18.35	0.98493767992227832	0.42132	0.03828	0.09172	N	AEFBHCI	0.029174	0.02706	N	-0.541363252596485	0.20755	1.096492	-0.833746912484641	0.13678	0.7109051	1.53394777891058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.946	-1.42	0.08446	2.867000	0.48126	.	.	0.223000	0.18093	0.048000	0.21332	0.000000	0.08366	0.009000	0.08673	0.6801:0.0:0.0:0.3198	3.82	0.08346	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|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	0.001594	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	716.33	33	chr7	57120274	.	A	G	716.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=789;ExcessHet=0;FS=4.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.15;MQRankSum=-4.328;QD=10.38;ReadPosRankSum=-0.803;SOR=1.255	GT:AD:DP:GQ:PL	0/1:40,29:69:99:730,0,1046	18	0	1	0
chr7	57126056	57126056	T	C	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon3:c.A224G:p.Q75R,ZNF479:NM_033273:exon4:c.A224G:p.Q75R	.	452	1018	47	5	0	57	0.0272336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0055	0.00339457	0.0058	0.0017	0.0068	0.0002	0.0021	0.0068	0.0114	0.0077	0.0049094	759	154602	rs199932939	0.0053	0.0053	0.0050	0.0056	0.0246	0.0052	0.0051	0.0213	0.0201	0.0016	0.0076	0.0126	0	0.0023	0.0246	0.0049	0.0072	0.0091	0.0048	0.0048	0.0044	0.0053	0.0085	0.0045	0.0044	0.0064	0.0059	0.0015	0	0.0055	0.0101	0.0002	0.0035	0.0238	0.0066	0.0104	0.0085	0.054	0.38633	T	0.122	0.36630	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.84	0.01504	N	3.31	0.06291	T	-0.77	0.21429	N	0.138	0.13626	-0.9389	0.42790	T	0.005	0.01578	T	9	0.005461186	0.00120	T	.	.	.	0.018	0.03083	.	.	0.119812018005	0.11559	0.015442727878878133	0.01500	0.937583356376	0.72088	0.343715667725	0.16993	T	0.006166	0.16623	T	-0.698216	0.00037	T	-0.770166	0.02763	T	0.00105148513774967	0.00010	T	0.0993901	0.01432	T	0.017931126	0.00316	0.03834946	0.03684	0.017931126	0.00316	0.03834946	0.03684	-0.546	0.00612	T	.	.	0.070	0.05668	B	.;.;.	.;.;.	0.618681	0.09873	6.632	0.7000091064038827	0.09153	0.00021	0.00226	N	AEFI	0.013016	0.00159	N	-1.51131193355416	0.01775	0.0777514	-1.55381002604836	0.01950	0.08900711	1.12376233501182E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-0.203	0.12555	0.387000	0.20445	.	.	-0.978000	0.01909	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.6961:0.0:0.3039	3.929	0.08776	952	0.10565	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.032770	0.070707	0.023098	0.020492	0.000000	0.060345	0.033537	0.034091	0.02632	541.33	34	chr7	57126056	.	T	C	541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.773;DP=715;ExcessHet=0;FS=0.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.98;MQRankSum=2.37;QD=6.77;ReadPosRankSum=0.418;SOR=0.822	GT:AD:DP:GQ:PL	0/1:50,30:80:99:555,0,1206	18	0	1	0
chr7	67279892	67279894	GAG	-	exonic	SPDYE21	.	nonframeshift deletion	SPDYE21:NM_001382715:exon2:c.235_237del:p.E81del	.	445	1072	4	1	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0028431	74	26028	rs555977902	0.0077	0.0076	0.0077	0.0078	0.0079	0.0076	0.0076	0.0078	0.0077	0.0010	0.0048	0.0547	0	0.0006	0.0038	0.0079	0.0084	0.0015	0.0059	0.0058	0.0060	0.0057	0.0076	0.0055	0.0054	0.0070	0.0068	0.0014	0	0.0072	0.0505	0.0002	9.502e-05	0.0068	0.0076	0.0087	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5856.39	36	chr7	67279891	.	TGAG	T	5856.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.472;DP=834;ExcessHet=0.7564;FS=5.489;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=49.99;MQRankSum=4.01;QD=20.77;ReadPosRankSum=-0.628;SOR=0.796	GT:AD:DP:GQ:PL	0/1:19,46:65:99:1874,0,659	15	0	4	0
chr7	87550733	87550733	T	C	exonic	ABCB1	.	nonsynonymous SNV	ABCB1:NM_001348946:exon10:c.A1105G:p.I369V,ABCB1:NM_000927:exon11:c.A1105G:p.I369V,ABCB1:NM_001348944:exon12:c.A1105G:p.I369V,ABCB1:NM_001348945:exon14:c.A1315G:p.I439V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0136768775218	0.0002	.	0.0002	0	0	0	0.0002	0.0003	0	0	0.0002199	34	154602	rs199766539	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	0	0	0	5.618e-05	0	0.0004	0.0001	1.16e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0	0	0	0.0003	0	0.0003	0	0	0.007	0.59928	D	0.022	0.57587	D	0.034	0.20480	B	0.108	0.31289	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.67	0.78151	M	0.87	0.46412	T	-0.79	0.21860	N	0.305	0.40765	-0.9068	0.47238	T	0.097	0.36445	T	10	0.14666826	0.27804	T	0.013677	0.33266	T	0.246	0.55340	.	.	0.24933006939	0.24537	0.633206665522202	0.63254	0.203613360482	0.22774	0.417736291885	0.27526	T	.	.	.	-0.325326	0.06471	T	-0.280618	0.46741	T	0.188053298617627	0.19729	T	0.809419	0.45992	T	0.4907521	0.66548	0.17426954	0.39811	0.4907521	0.66548	0.17426954	0.39810	-8.773	0.66224	D	.	.	0.158	0.35705	B	.;.;.	.;.;.	3.127647	0.42246	21.5	0.99803066854420364	0.88728	0.98920	0.88639	D	AEFBI	0.846927	0.76379	D	0.361849897730054	0.59369	4.115632	0.493831189418721	0.67580	5.103142	0.999999989910929	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	6.17	6.17	0.99707	6.200000	0.72046	5.010000	0.46663	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.822	0.85699	547	0.72440	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1325.33	43	chr7	87550733	.	T	C	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.449;DP=834;ExcessHet=0;FS=7.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.708;SOR=0.709	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1339,0,1199	18	0	1	0
chr7	92577129	92577129	T	C	exonic	FAM133B	.	nonsynonymous SNV	FAM133B:NM_001288584:exon7:c.A409G:p.M137V,FAM133B:NM_152789:exon7:c.A439G:p.M147V,FAM133B:NM_001040057:exon8:c.A409G:p.M137V	.	1154	367	1	0	0	1	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00823634032413	.	0.00199681	0.0019	0.0006	0.0024	0	0	0.0010	0.0085	0.0034	0.000608	94	154602	rs548380070	0.0009	0.0009	0.0008	0.0010	0.0342	0.0008	0.0008	0.0301	0.0285	0.0009	0.0018	0.0015	0	0	0.0342	0.0005	0.0018	0.0030	0.0009	0.0009	0.0009	0.0010	0.0035	0.0008	0.0007	0.0025	0.0022	0.0002	0	0.0032	0.0006	0	0	0.0204	0.0007	0.0038	0.0035	0.456	0.08943	T	0.261	0.28391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	1.0	0.41392	T	-0.51	0.46673	N	0.106	0.09207	-1.0259	0.21788	T	0.060	0.25127	T	9	0.004259348	0.00085	T	0.008236	0.21827	T	0.061	0.17616	.	.	0.0666544352282	0.05500	0.014799510401165932	0.01436	0.241242938755	0.26650	0.237422019243	0.02563	T	0.012608	0.18845	T	-0.639195	0.00084	T	-0.694301	0.06143	T	0.00745947396083215	0.00086	T	0.0982902	0.10549	T	0.042330205	0.06401	0.054670334	0.09447	0.042330205	0.06400	0.054670334	0.09447	-1.539	0.01846	T	.	.	0.054	0.00806	B	.;.;.;.	.;.;.;.	0.623002	0.09915	6.673	0.29699419979630881	0.01588	0.12021	0.17010	N	AEFBI	0.050401	0.08804	N	-1.56514191267039	0.01448	0.06318194	-1.60497189534714	0.01625	0.07375458	0.999919329735427	0.45857	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.4	-6.41	0.01766	0.401000	0.20673	-0.240000	0.10600	-1.528000	0.00996	0.312000	0.25432	0.000000	0.08366	0.526000	0.29613	0.103:0.4573:0.1056:0.3341	5.563	0.16441	800	0.44535	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018900	0.025773	0.027523	0.041045	0.000000	0.009434	0.000000	0.000000	0.05263	529.83	17	chr7	92577129	.	T	C	529.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.099;DP=510;ExcessHet=0.119;FS=1.402;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.121;SOR=1.14	GT:AD:DP:GQ:PL	0/1:9,10:19:99:231,0,239	17	0	2	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.05263	3940.83	35	chr7	95592889	.	T	C	3940.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.396;DP=979;ExcessHet=0.119;FS=0.845;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.16;SOR=0.637	GT:AD:DP:GQ:PL	0/1:75,63:138:99:1522,0,2092	17	0	2	0
chr7	99005219	99005219	T	C	exonic	TRRAP	.	nonsynonymous SNV	TRRAP:NM_003496:exon67:c.T10495C:p.Y3499H,TRRAP:NM_001244580:exon68:c.T10582C:p.Y3528H,TRRAP:NM_001375524:exon69:c.T10624C:p.Y3542H	.	.	.	.	.	.	.	.	.	.	.	1275349	not_provided|Developmental_delay_with_or_without_dysmorphic_facies_and_autism	MedGen:C3661900|MONDO:MONDO:0032760,MedGen:C5193106,OMIM:618454	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.927	0.159940102319	.	.	8.249e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs199577454	2.394e-05	2.394e-05	2.586e-05	2.2e-05	0.0038	1.739e-05	1.539e-05	0.0026	0.0022	0	0	0	0	0	0.0038	9.892e-06	1.656e-05	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000017	0.62929	D	0.119592	1	0.81001	D	2.44	0.70756	M	-1.52	0.81478	D	-3.76	0.71276	D	0.955	0.96416	0.539	0.91093	D	0.697	0.89543	D	10	0.8979465	0.89152	D	0.15994	0.84004	D	0.927	0.98229	0.669	0.80703	0.868594633239	0.86731	0.9383716600042861	0.93818	2.5862836791	0.98110	0.939507782459	0.99437	D	0.842093	0.96326	D	0.351018	0.86574	D	0.36329	0.90824	D	0.984081029891968	0.75517	D	0.962704	0.86724	D	0.22276928	0.44883	0.27161953	0.53065	0.22276928	0.44883	0.27161953	0.53064	-9.887	0.73232	D	0.9850787811356978	0.99605	0.994	0.94895	P	.;.;.;.	.;.;.;.	4.123843	0.61658	24.4	0.99810149683419847	0.89442	0.98908	0.88470	D	AEFDBI	0.878933	0.80451	D	0.818318099814755	0.87235	9.14914	0.770892712403956	0.87709	9.316189	0.999999999661814	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.642000	0.82531	7.857000	0.71250	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:0.0:0.0:1.0	15.880	0.78980	285	0.88719	Phosphatidylinositol 3-/4-kinase, catalytic domain;.;Phosphatidylinositol 3-/4-kinase, catalytic domain;Phosphatidylinositol 3-/4-kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	2184.33	33	chr7	99005219	.	T	C	2184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=814;ExcessHet=0;FS=0.573;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.377;SOR=0.768	GT:AD:DP:GQ:PL	0/1:83,82:165:99:2198,0,2097	18	0	1	0
chr7	100088992	100088992	-	GGCGGC	exonic	COPS6	.	nonframeshift insertion	COPS6:NM_006833:exon1:c.2_3insGGCGGC:p.A10_T11insAA	.	0	217	7	1	1	10	0.020316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0042	0	0	0	0	0.0013	0.0385	0.0352	0.0003752	58	154602	rs571882095	0.0055	0.0050	0.0054	0.0056	0.0132	0.0054	0.0054	0.0114	0.0110	0.0012	0.0036	0.0021	0.0003	0.0021	0.0132	0.0057	0.0046	0.0124	0.0035	0.0034	0.0036	0.0033	0.0104	0.0032	0.0031	0.0081	0.0073	0.0010	0	0.0020	0.0009	0.0004	0.0019	0.0034	0.0054	0.0057	0.0104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	286.29	33	chr7	100088992	.	T	TGGCGGC	286.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.574;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-1.93;SOR=0.627	GT:AD:DP:GQ:PL	0/1:12,8:20:99:300,0,472	18	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,80:80:99:1|1:100773849_CCAT_C:3598,241,0:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,100:100:99:4505,304,0	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,144:482:99:0|1:100952942_T_G:5140,0,12205:100952942	5	0	14	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1510.83	945	chr7	100953071	.	C	T	1510.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.219;DP=13533;ExcessHet=0.119;FS=4.843;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.37;MQRankSum=-3.538;QD=1.2;ReadPosRankSum=-1.359;SOR=1.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:508,43:551:99:0|1:100953014_G_A:276,0,21201:100953014	17	0	2	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:313,80:402:99:.:.:2417,0,12902:.	2	0	17	0
chr7	100991801	100991801	A	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A1238C:p.H413P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00689184345042	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1225570861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.24	0.17701	T	0.18	0.32461	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.5	0.37844	L	2.69	0.12268	T	0.81	0.02442	N	0.079	0.06720	-0.9443	0.41927	T	0.016	0.06473	T	6	0.06573716	0.08912	T	0.006892	0.18233	T	0.036	0.09122	0.212	0.13066	0.110078149338	0.10416	0.002142621481111663	0.00198	.	.	0.437860071659	0.30285	T	0.003331	0.02738	T	-0.362085	0.04013	T	-0.757887	0.03188	T	0.0941602595747456	0.11702	T	0.157784	0.01569	T	0.09887075	0.23325	0.1328954	0.31880	0.09887075	0.23325	0.1328954	0.31879	-6.006	0.46330	T	.	.	0.244	0.47880	B	.;.	.;.	-0.309591	0.02575	0.315	0.15473610032953433	0.00380	0.00060	0.00440	N	AEFDBI	0.044639	0.07208	N	-1.00923827708304	0.08411	0.3942959	-1.19174302902404	0.06047	0.2899006	8.24819661054814E-5	0.04703	0.554377	0.28877	0	0.626922	0.53725	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	0.131	0.14055	-2.180000	0.01343	-0.143000	0.11497	-0.875000	0.02511	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	.	.	.	.	.	.	.	.	0.02632	3537.33	366	chr7	100991801	.	A	C	3537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=6945;ExcessHet=0;FS=0.881;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.474;SOR=0.766	GT:AD:DP:GQ:PL	0/1:166,134:300:99:3551,0,4482	18	0	1	0
chr7	103574195	103574195	C	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon30:c.G4408A:p.V1470I,RELN:NM_173054:exon30:c.G4408A:p.V1470I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	177246	RELN-related_disorder|not_specified|Norman-Roberts_syndrome|not_provided|Familial_temporal_lobe_epilepsy_7|Inborn_genetic_diseases	.|MedGen:CN169374|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.00564088543804	0.0025	0.000998403	0.0027	0.0005	0.0012	0	0.0012	0.0039	0.0044	0.0019	0.0025032	387	154602	rs143213152	0.0035	0.0035	0.0036	0.0034	0.0041	0.0034	0.0034	0.0040	0.0039	0.0007	0.0012	0.0014	0	0.0014	0.0007	0.0041	0.0037	0.0018	0.0023	0.0023	0.0026	0.0020	0.0039	0.0021	0.0020	0.0035	0.0034	0.0008	0	0.0018	0.0009	0	0.0007	0.0034	0.0039	0.0024	0.0021	0.567	0.06891	T	0.823	0.03795	T	0.08	0.24543	B	0.033	0.22329	B	0.000211	0.47681	D	0.186081	0.929146	0.36917	D	0.215	0.09537	N	1.96	0.46777	T	-0.1	0.08495	N	0.21	0.23380	-1.0549	0.13066	T	0.067	0.27674	T	10	0.009001464	0.00204	T	0.005641	0.14591	T	0.019	0.03383	.	.	0.236619781664	0.23270	0.16521864698319463	0.16441	0.142333352688	0.16047	0.431625425816	0.29431	T	0.06313	0.32096	T	-0.567985	0.00228	T	-0.589168	0.13737	T	0.0116502958590994	0.00178	T	0.843516	0.52087	T	0.06642255	0.14291	0.044297926	0.05708	0.06562176	0.14041	0.054244503	0.09293	-3.912	0.22527	T	0.09443233871247174	0.06320	0.075	0.05579	B	.;.;.	.;.;.	2.139387	0.27245	17.40	0.98417570565768409	0.41244	0.84953	0.44050	D	AEFI	0.377441	0.46121	N	-0.324645290765706	0.28214	1.554407	-0.104901627764552	0.35193	2.033134	0.361092006667339	0.19778	0.648238	0.45900	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	4.48	0.53973	2.914000	0.48495	4.048000	0.41483	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.9291:0.0:0.0709	14.624	0.68208	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1170.33	33	chr7	103574195	.	C	T	1170.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.207;DP=733;ExcessHet=0;FS=4.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.151;SOR=0.423	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1184,0,1494	18	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3462	3537.59	237	chr7	128479325	.	T	C	3537.59	.	AC=9;AF=0.346;AN=26;BaseQRankSum=2.39;DP=4144;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4618;MLEAC=11;MLEAF=0.423;MQ=57.58;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.77;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,26:201:99:0|1:128479325_T_C:559,0,7213:128479325	4	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.375	3542.4	237	chr7	128479326	.	G	C	3542.4	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.86;DP=4339;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4902;MLEAC=12;MLEAF=0.5;MQ=57.62;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.735;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,26:201:99:0|1:128479325_T_C:559,0,7213:128479325	3	0	9	7
chr7	128840597	128840597	C	A	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon10:c.C1599A:p.F533L,FLNC:NM_001458:exon10:c.C1599A:p.F533L	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	522191	Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_5	MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.561	0.225611873828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.052	0.47581	T	0.007	0.36066	B	0.037	0.41496	B	0.000146	0.49130	D	0.179643	0.566258	0.31215	N	2.02	0.55341	M	-1.89	0.84557	D	-4.59	0.78891	D	0.562	0.61087	0.005	0.82365	D	0.545	0.83275	D	10	0.70769966	0.72843	D	0.225612	0.88005	D	0.561	0.82003	0.736	0.86892	0.720276925624	0.71780	0.6311246090506598	0.63046	0.505908923053	0.48822	0.684431791306	0.64905	T	0.761294	0.93536	D	0.0380189	0.56784	T	-0.183165	0.56227	T	0.993342578411102	0.84107	D	0.957071	0.83814	D	0.5806065	0.71641	0.5464195	0.73780	0.5806065	0.71642	0.5464195	0.73780	-5.814	0.44696	T	0.2916281134842688	0.38824	0.821	0.80123	P	.;.	.;.	1.861132	0.23640	16.10	0.99529815627263674	0.69777	0.38148	0.25923	N	AEFDBHCI	0.283580	0.39665	N	-0.654066157961777	0.17341	0.8915608	-0.703008058312116	0.16886	0.895362	0.999975663744341	0.50053	0.706548	0.73137	0	0.588066	0.40923	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	5.29	-2.84	0.05408	-1.039000	0.03660	-3.401000	0.02815	-0.813000	0.03045	0.009000	0.18154	0.000000	0.08366	0.889000	0.42754	0.0:0.3995:0.0:0.6005	12.454	0.55033	626	0.65439	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1099.33	34	chr7	128840597	.	C	A	1099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.941;DP=780;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.116;SOR=0.708	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1113,0,1112	18	0	1	0
chr7	130368427	130368427	A	G	exonic	CPA5	.	nonsynonymous SNV	CPA5:NM_001318223:exon12:c.A1141G:p.T381A,CPA5:NM_080385:exon13:c.A1141G:p.T381A,CPA5:NM_001127441:exon14:c.A1141G:p.T381A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0313164242198	.	.	8.247e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs781922959	4.105e-06	4.104e-06	0	8.251e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.039	0.51112	D	0.965	0.56013	D	0.8	0.58175	P	0.001669	0.38326	N	0.185093	1	0.81001	D	.	.	.	2.93	0.09822	T	-2.7	0.57599	D	0.235	0.26475	-1.0616	0.11361	T	0.029	0.12541	T	9	0.49634647	0.61289	T	0.031316	0.53429	D	0.204	0.49076	0.804	0.92230	0.365317461125	0.36143	0.6690808162246362	0.66846	0.46808818842	0.46165	0.572399795055	0.49017	T	0.146803	0.48458	T	-0.190324	0.22210	T	-0.511164	0.21194	T	0.935950815677643	0.60458	D	0.748325	0.36895	T	0.32272995	0.54870	0.34459865	0.60155	0.32272995	0.54870	0.34459865	0.60154	-4.63	0.32546	T	.	.	0.143	0.34049	B	.;.;.;.;.	.;.;.;.;.	3.515853	0.49260	22.7	0.9946839615177292	0.66207	0.88369	0.48265	D	AEFDBI	0.404402	0.47770	N	0.0165648806702043	0.42608	2.570526	-0.0221076516400427	0.38718	2.285187	0.99998304450708	0.51787	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.81	3.4	0.38031	4.270000	0.58693	4.187000	0.42377	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.8031:0.0:0.0697:0.1271	7.453	0.26419	645	0.63593	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase 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	.	.	.	.	.	.	.	.	0.02632	917.33	38	chr7	130368427	.	A	G	917.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=830;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-2.379;SOR=0.905	GT:AD:DP:GQ:PL	0/1:53,41:94:99:931,0,1426	18	0	1	0
chr7	138621107	138621107	C	A	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_174959:exon10:c.G836T:p.G279V,SVOPL:NM_001331192:exon11:c.G1019T:p.G340V,SVOPL:NM_001139456:exon14:c.G1292T:p.G431V	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.104671377833	0.0013	0.00159744	0.0025	0.0005	0.0065	0	0	0.0018	0.0034	0.0057	0.0022509	348	154602	rs142327276	0.0020	0.0020	0.0019	0.0022	0.0064	0.0020	0.0019	0.0051	0.0049	0.0004	0.0029	0.0013	0	1.873e-05	0.0064	0.0019	0.0021	0.0055	0.0011	0.0011	0.0011	0.0011	0.0039	0.0010	0.0009	0.0026	0.0021	0.0004	0	0.0007	0.0014	0	0	0.0034	0.0017	0.0014	0.0039	0.002	0.78490	D	0.006	0.72224	D	0.989	0.62824	D	0.88	0.62516	P	0.000000	0.84330	D	0.052767	1	0.81001	D	3.64	0.94097	H	-1.11	0.77466	T	-8.02	0.96567	D	0.978	0.99100	0.380	0.88793	D	0.585	0.85109	D	10	0.11376256	0.21381	T	0.104671	0.77937	D	0.859	0.95691	.	.	0.913165136402	0.91229	0.9511391303310808	0.95097	0.265635106217	0.29118	0.770900249481	0.77559	T	0.337631	0.70700	T	0.0618352	0.59843	T	0.31755	0.88990	D	0.114464696492018	0.13880	T	0.907509	0.67274	D	0.9603125	0.97311	0.923299	0.96630	0.9603125	0.97312	0.923299	0.96630	-11.181	0.83858	D	.	.	0.917	0.87601	P	.;.;.;.	.;.;.;.	4.655699	0.74259	26.1	0.99754041166120622	0.84537	0.96474	0.69319	D	AEFDBI	0.867643	0.78748	D	0.806585240734171	0.86516	8.910727	0.760616659801487	0.86949	9.055919	0.999530929563314	0.40238	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.33	5.33	0.75683	5.430000	0.66239	5.959000	0.51789	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:1.0:0.0:0.0	19.016	0.92873	905	0.23532	.;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	0.010574	0.000000	0.010870	0.023392	0.000000	0.017241	0.009146	0.003788	0.05263	2050.83	48	chr7	138621107	.	C	A	2050.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.4;DP=846;ExcessHet=0.119;FS=4.595;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.733;SOR=0.926	GT:AD:DP:GQ:PL	0/1:33,24:57:99:653,0,808	17	0	2	0
chr7	141778696	141778696	G	A	exonic	TAS2R4	.	nonsynonymous SNV	TAS2R4:NM_016944:exon1:c.G208A:p.V70I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00345921736321	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs954008651	1.847e-05	1.847e-05	2.178e-05	1.513e-05	0.0002	1.265e-05	1.084e-05	3.348e-05	1.981e-05	5.974e-05	0	0	0.0001	1.872e-05	0.0002	1.439e-05	0	3.478e-05	1.972e-05	1.97e-05	0	4.037e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.74	0.03696	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	0.697718	0.06184	N	1.179860	1	0.08975	N	-1.575	0.00449	N	1.24	0.36691	T	-0.19	0.09965	N	0.015	0.00181	-1.0140	0.25656	T	0.061	0.25492	T	10	0.045322806	0.03591	T	0.003459	0.07817	T	0.041	0.10877	0.48	0.55983	0.134241683229	0.13084	0.014063944366342788	0.01363	0.0641853446784	0.07151	0.234711825848	0.02334	T	9.02E-4	0.00463	T	-0.449035	0.01144	T	-0.701256	0.05757	T	0.0851146428982548	0.10628	T	0.340666	0.07366	T	0.038093243	0.05009	0.04051335	0.04396	0.038093243	0.05009	0.04051335	0.04395	-2.442	0.05397	T	.	.	0.073	0.04806	B	.	.	-1.027937	0.00732	0.022	0.5607555868458558	0.05475	0.00475	0.02270	N	AEFBI	0.013696	0.00191	N	-1.38153141757506	0.02811	0.1246802	-1.39264737349203	0.03329	0.1550968	0.00223738616304642	0.09253	0.372202	0.05800	0	0.446627	0.06534	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.57	0.114	0.13945	-0.380000	0.07484	.	.	-2.237000	0.00342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4047:0.1387:0.1583:0.2983	0.439	0.00450	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	.	.	.	.	.	.	.	.	0.02632	1997.33	88	chr7	141778696	.	G	A	1997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=1260;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.907;SOR=0.606	GT:AD:DP:GQ:PL	0/1:73,78:151:99:2011,0,1771	18	0	1	0
chr7	142022364	142022364	T	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon7:c.T807A:p.H269Q,MGAM:NM_004668:exon7:c.T807A:p.H269Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.482	0.0315373609146	.	.	8.287e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs782801521	1.368e-06	1.368e-06	2.723e-06	0	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	0	0	1.159e-05	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	0.132	0.31834	T	0.099	0.38891	T	0.794	0.44757	P	0.706	0.54345	P	0.010877	0.29752	N	0.239590	0.917176	0.27377	N	2.125	0.59049	M	-2.6	0.89888	D	-5.33	0.85921	D	0.373	0.42931	-0.1569	0.78747	T	0.598	0.85670	D	10	0.23055106	0.40009	T	0.031537	0.53595	D	0.482	0.77206	0.396	0.42262	0.694950031643	0.69232	0.5062799773042336	0.50549	0.0505422150421	0.05556	0.55636882782	0.46755	T	0.529935	0.83715	D	-0.139405	0.29985	T	-0.212321	0.53473	T	0.940153479576111	0.61224	D	0.714629	0.32694	T	0.115677446	0.27294	0.07075564	0.15071	0.115677446	0.27294	0.07075564	0.15071	-7.761	0.59430	D	.	.	0.337	0.55842	B	.;.;.	.;.;.	-0.188546	0.03150	0.509	0.97817282430478525	0.36168	0.08303	0.14250	N	AEFBI	0.156207	0.28153	N	-0.764073550521018	0.14254	0.7085296	-0.983599253836857	0.10153	0.5095769	0.786629451363248	0.23941	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	-8.35	0.00862	-2.352000	0.01170	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.1014:0.458:0.1038:0.3368	5.309	0.15129	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	.	.	.	.	.	.	.	.	0.02632	1475.33	34	chr7	142022364	.	T	A	1475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=771;ExcessHet=0;FS=2.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-1.375;SOR=0.905	GT:AD:DP:GQ:PL	0/1:91,65:156:99:1489,0,2321	18	0	1	0
chr7	143381749	143381749	G	A	exonic	ZYX	.	nonsynonymous SNV	ZYX:NM_001010972:exon2:c.G178A:p.V60M,ZYX:NM_001362783:exon2:c.G178A:p.V60M,ZYX:NM_003461:exon2:c.G178A:p.V60M	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.658509365838	.	0.00139776	0.0018	0	0.0002	0	0	8.548e-05	0	0.0079	0.000705	109	154602	rs576083969	0.0005	0.0005	0.0003	0.0006	0.0063	0.0004	0.0004	0.0059	0.0057	3.103e-05	0.0003	0	2.662e-05	0	0.0030	5.002e-05	0.0006	0.0063	0.0003	0.0003	0.0001	0.0005	0.0058	0.0002	0.0002	0.0041	0.0036	0	0	0.0008	0	0	0	0.0034	2.94e-05	0.0005	0.0058	0.022	0.65419	D	0.024	0.59159	D	0.995	0.67487	D	0.766	0.56676	P	0.092877	0.02472	U	3.562510	0.917404	0.39494	D	1.895	0.50365	L	0.16	0.60610	T	-0.72	0.27876	N	0.335	0.37613	-0.6200	0.63989	T	0.425	0.76916	T	10	0.0068773925	0.00156	T	0.658509	0.97126	D	0.226	0.52472	0.114	0.02306	0.723355570506	0.72091	0.2769891412363629	0.27611	0.101851402616	0.11526	0.860972642899	0.91255	D	0.163256	0.50824	T	-0.328147	0.06252	T	-0.241108	0.50690	T	0.1420042089328	0.16446	T	.	.	.	0.13642472	0.31626	0.085104465	0.19625	0.13642472	0.31626	0.085104465	0.19624	-5.103	0.37939	T	.	.	0.765	0.81852	P	.;.;.	.;.;.	4.474868	0.69757	25.4	0.99078205885793791	0.51906	0.91182	0.53021	D	AEFDBHCI	0.912354	0.87287	D	0.39325265449173	0.61055	4.301696	0.327291514343401	0.57150	3.879742	0.999999999976058	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.0	4.0	0.45673	7.946000	0.87231	11.416000	0.92703	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0:0.0:1.0:0.0	13.224	0.59329	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004065	0.000000	0.004076	0.000000	0.000000	0.000000	0.003086	0.007634	0.02632	941.33	33	chr7	143381749	.	G	A	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.695;DP=694;ExcessHet=0;FS=4.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.333;SOR=0.331	GT:AD:DP:GQ:PL	0/1:29,42:71:99:955,0,710	18	0	1	0
chr7	151167030	151167030	C	A	exonic	GBX1	.	nonsynonymous SNV	GBX1:NM_001098834:exon1:c.G519T:p.E173D	.	373	1146	3	0	0	3	0.00130719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	.	8.4e-05	0.00239617	0.0021	0	0	0.0001	0	7.877e-05	0.0012	0.0143	0.0016623	257	154602	rs201756310	0.0008	0.0008	0.0004	0.0012	0.0127	0.0008	0.0008	0.0121	0.0118	0	0	0	0	5.654e-05	0.0004	4.421e-05	0.0008	0.0127	0.0005	0.0005	0.0002	0.0008	0.0147	0.0004	0.0004	0.0120	0.0110	2.404e-05	0	0	0	0	9.409e-05	0	8.819e-05	0.0005	0.0147	0.135	0.26192	T	0.428	0.13792	T	0.235	0.30743	B	0.039	0.23607	B	0.011179	0.01299	U	54.387700	0.681541	0.33239	D	0.715	0.18665	N	-2.92	0.91748	D	-0.34	0.12661	N	0.13	0.12484	-1.0086	0.27354	T	0.061	0.25492	T	10	0.00643602	0.00146	T	.	.	.	0.245	0.55201	0.127	0.03251	0.828323270697	0.82669	0.1548539192074891	0.15406	0.671682258587	0.59472	0.820678710938	0.85131	D	0.006406	0.05843	T	-0.355621	0.04383	T	-0.271925	0.47624	T	0.0257982189229172	0.01379	T	0.474053	0.14146	T	0.0943776	0.22188	0.10856257	0.26153	0.0943776	0.22188	0.10856257	0.26152	-3.638	0.18408	T	.	.	0.073	0.04723	B	.	.	2.185542	0.27860	17.61	0.89910045739810118	0.19210	0.71935	0.35230	D	AEFDBCI	0.273623	0.38899	N	-0.150237670903724	0.35225	2.02055	-0.0693083636135143	0.36666	2.136755	0.999990191995976	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.17	3.25	0.36363	0.650000	0.24544	0.722000	0.21020	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.682:0.2079:0.11	5.469	0.15955	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	865.33	18	chr7	151167030	.	C	A	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.843;DP=666;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.67;ReadPosRankSum=-0.391;SOR=0.976	GT:AD:DP:GQ:PL	0/1:14,30:44:99:879,0,377	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:134,43:177:99:589,0,4902	1	0	18	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.07895	344.02	68	chr7	152235831	.	C	G	344.02	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.16;DP=1631;ExcessHet=0.3672;FS=3.14;InbreedingCoeff=-0.0875;MLEAC=3;MLEAF=0.079;MQ=50.5;MQRankSum=-2.006;QD=1.01;ReadPosRankSum=-1.193;SOR=1.089	GT:AD:DP:GQ:PL	0/1:93,12:105:13:13,0,3732	16	0	3	0
chr7	155545941	155545941	A	G	exonic	CNPY1	.	nonsynonymous SNV	CNPY1:NM_001369813:exon2:c.T97C:p.C33R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32092136	0.49461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318368	0.06377	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.72087	P	.	.	1.085584	0.14688	11.24	0.67017290569402832	0.08229	0.78908	0.39005	D	AEFBI	.	.	.	.	.	.	.	.	.	0.988555147839483	0.31555	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.062806	0.01542	0	0.43108	0.38233	4.94	3.79	0.42757	1.516000	0.35463	2.692000	0.34095	0.756000	0.94297	0.871000	0.30813	0.936000	0.28664	0.294000	0.24357	0.9169:0.0:0.0831:0.0	9.173	0.36256	750	0.51762	Domain of unknown function DUF3456	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.06667	33.61	.	chr7	155545941	.	A	G	33.61	.	AC=2;AF=0.067;AN=30;DP=37;ExcessHet=0;FS=0;InbreedingCoeff=0.2788;MLEAC=2;MLEAF=0.067;MQ=60;QD=16.8;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	14	1	0	4
chr8	6514777	6514777	G	A	exonic	ANGPT2	.	nonsynonymous SNV	ANGPT2:NM_001118888:exon5:c.C776T:p.A259V,ANGPT2:NM_001118887:exon6:c.C929T:p.A310V,ANGPT2:NM_001147:exon6:c.C932T:p.A311V	.	434	1085	3	0	0	3	0.00138058	0.0020	0.072	.	711600	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.188	.	0.0030	0.00199681	0.0048	0.0004	0.0006	0	0.0038	0.0052	0.0055	0.0121	0.0045795	708	154602	rs145141058	0.0040	0.0040	0.0036	0.0044	0.0126	0.0039	0.0039	0.0120	0.0117	0.0003	0.0006	0.0048	7.558e-05	0.0046	0.0016	0.0037	0.0034	0.0126	0.0027	0.0027	0.0025	0.0030	0.0083	0.0025	0.0024	0.0063	0.0056	0.0007	0	0.0018	0.0035	0	0.0042	0	0.0038	0.0019	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.027	0.19556	B	0.007	0.14941	B	0.000000	0.84330	D	0.049957	1	0.81001	D	-1.05	0.01069	N	-0.17	0.65563	T	1.73	0.00652	N	0.442	0.48134	-0.9230	0.45141	T	0.054	0.22921	T	10	0.012324214	0.00265	T	.	.	.	0.188	0.46444	.	.	0.665734656745	0.66292	0.6904965237364573	0.68989	0.253413253526	0.27906	0.442052185535	0.30858	T	0.093285	0.39180	T	-0.390887	0.02655	T	-0.32387	0.42148	T	0.02123464080639	0.00825	T	0.904909	0.66542	D	0.2685261	0.49924	0.12397222	0.29888	0.2685261	0.49924	0.12397222	0.29887	-4.246	0.27768	T	.	.	0.125	0.33891	B	.;.;.;.	.;.;.;.	2.264771	0.28940	17.96	0.66966079006661661	0.08214	0.97755	0.76898	D	AEFBI	0.911838	0.87165	D	-0.465373785404589	0.23222	1.245512	-0.171558742133226	0.32588	1.855526	0.999224613154397	0.38808	0.706548	0.73137	0	0.601575	0.49859	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	6.745000	0.74658	11.721000	0.94817	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0859:0.0:0.9141:0.0	10.740	0.45346	975	0.05339	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	1832.83	39	chr8	6514777	.	G	A	1832.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.231;DP=811;ExcessHet=0.119;FS=7.615;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.744;SOR=0.319	GT:AD:DP:GQ:PL	0/1:27,37:64:99:869,0,624	17	0	2	0
chr8	6757224	6757224	A	C	exonic	AGPAT5	.	nonsynonymous SNV	AGPAT5:NM_018361:exon8:c.A931C:p.S311R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.036332946083	.	.	8.27e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs780894264	8.209e-06	8.209e-06	6.806e-06	9.626e-06	2.236e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	0	2.236e-05	0	0	0	0	9.892e-06	0	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.188	0.21304	T	0.382	0.15890	T	0.009	0.15093	B	0.003	0.08700	B	0.000231	0.47286	N	0.283609	0.822782	0.34801	D	1.995	0.54099	M	-0.06	0.63568	T	-1.9	0.44284	N	0.105	0.08925	-1.0031	0.29021	T	0.137	0.45260	T	10	0.108783126	0.20265	T	0.036333	0.56926	D	0.099	0.28413	0.296	0.26041	0.530309751445	0.52680	0.6450399364130747	0.64438	0.0247163975186	0.02516	0.396043777466	0.24518	T	0.164288	0.50968	T	-0.170115	0.25216	T	-0.39927	0.33470	T	0.106640085577965	0.13072	T	.	.	.	0.05602613	0.10968	0.11268089	0.27190	0.05602613	0.10968	0.11268089	0.27189	-4.223	0.27083	T	.	.	0.358	0.57117	A	.	.	2.177662	0.27758	17.57	0.99019960604622015	0.50548	0.91980	0.54680	D	AEFBI	0.215091	0.34049	N	-0.353934008169668	0.27126	1.485903	-0.213166953967219	0.31062	1.75447	0.999748518053024	0.42466	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	2.03	0.25714	1.824000	0.38710	3.118000	0.36388	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.4309:0.1348:0.0835:0.3509	1.566	0.02447	988	0.01987	Acyltransferase, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1506.33	34	chr8	6757224	.	A	C	1506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.116;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.82;SOR=0.633	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1520,0,1671	18	0	1	0
chr8	17027610	17027610	C	T	exonic	MICU3	.	nonsynonymous SNV	MICU3:NM_001349810:exon1:c.C331T:p.P111S,MICU3:NM_181723:exon1:c.C331T:p.P111S	.	396	1078	41	7	0	55	0.0248756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00738818	0.1094	0	0.5	.	.	0.0789	.	0.1667	0.0013454	208	154602	rs200500624	0.0069	0.0065	0.0066	0.0072	0.0275	0.0068	0.0067	0.0262	0.0256	0.0009	0.0029	0.0306	0.0001	0.0049	0.0154	0.0060	0.0080	0.0275	0.0054	0.0054	0.0050	0.0058	0.0230	0.0051	0.0050	0.0195	0.0182	0.0011	0	0.0047	0.0323	0	0.0038	0.0034	0.0062	0.0071	0.0230	0.125	0.27310	T	0.603	0.07868	T	0.093	0.25333	B	0.029	0.21540	B	0.402710	0.13103	N	0.660243	1	0.08975	N	0.55	0.14455	N	0.96	0.42888	T	0.18	0.05035	N	0.173	0.18512	-1.0207	0.23486	T	0.048	0.20592	T	10	0.0014694929	0.00016	T	.	.	.	0.013	0.01715	.	.	0.0482279557977	0.04254	0.3599911044625781	0.35913	0.837194812772	0.67860	0.707130551338	0.68177	T	0.010703	0.09641	T	-0.530585	0.00381	T	-0.519989	0.20296	T	0.0405243162023735	0.03785	T	0.613539	0.23382	T	0.035434525	0.04169	0.07964865	0.17948	0.035434525	0.04168	0.07964865	0.17948	-3.528	0.16826	T	.	.	0.069	0.03231	B	.	.	1.446864	0.18675	13.86	0.89330916088496692	0.18705	0.02607	0.07180	N	AEFDBHCIJ	0.030292	0.03020	N	-1.24428004204296	0.04375	0.1973425	-1.2315283229291	0.05410	0.2577218	0.999999648656108	0.74766	0.009712	0.00066	3	0.435331	0.06439	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.31	2.43	0.28797	0.122000	0.15515	0.668000	0.20568	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.2414:0.7586:0.0:0.0	8.086	0.29935	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007919	0.000000	0.010638	0.004505	0.000000	0.000000	0.017442	0.009434	0.02632	182.33	35	chr8	17027610	.	C	T	182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.342;DP=561;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.712;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,8:18:99:196,0,259	18	0	1	0
chr8	17642622	17642622	C	T	exonic	PDGFRL	.	nonsynonymous SNV	PDGFRL:NM_001372073:exon6:c.C949T:p.P317S,PDGFRL:NM_006207:exon7:c.C949T:p.P317S	Colorectal cancer, somatic;Hepatocellular cancer, somatic	16	1497	9	0	0	9	0.002997	.	.	.	2393417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.325	0.0329888827118	0.0005	0.000399361	0.0005	0	0.0003	0.0006	0	0.0007	0	0.0003	0.0004592	71	154602	rs148981308	0.0005	0.0005	0.0005	0.0005	0.0059	0.0005	0.0005	0.0044	0.0039	0.0003	0.0001	0.0056	0.0047	0	0.0059	0.0003	0.0009	0.0003	0.0004	0.0004	0.0004	0.0005	0.0014	0.0003	0.0003	0.0006	0.0005	2.405e-05	0.0011	0.0001	0.0043	0.0014	0	0.0068	0.0005	0.0009	0.0008	0.02	0.49613	D	0.017	0.60337	D	0.997	0.70673	D	0.95	0.68788	D	0.000000	0.84330	D	0.047272	1	0.81001	D	3.36	0.91202	M	1.34	0.34841	T	-3.91	0.73042	D	0.621	0.63628	-0.6989	0.60491	T	0.241	0.60893	T	10	0.033563912	0.01537	T	0.032989	0.54662	D	0.325	0.64725	.	.	0.725982359231	0.72355	0.48677562052074724	0.48597	0.027915624442	0.02864	0.571606397629	0.48905	T	0.171621	0.51981	T	-0.12362	0.32532	T	-0.0534374	0.66786	D	0.367444068193436	0.27698	T	0.925307	0.72522	D	0.41434515	0.61713	0.29918927	0.55952	0.39909652	0.60670	0.26023832	0.51784	-5.106	0.37971	T	0.5563478207965277	0.62446	0.152	0.33823	B	.;.	.;.	3.981638	0.58534	24.0	0.99914951410568698	0.98309	0.97141	0.72930	D	AEFBCI	0.805459	0.73004	D	0.712906823132211	0.80479	7.30317	0.651301581592242	0.78709	6.930757	0.999999999988605	0.74766	0.631515	0.41029	0	0.588015	0.36545	0	0.659464	0.59346	0	0.741806	0.99463	0	.	.	5.16	5.16	0.70563	7.041000	0.76279	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.767000	0.36405	0.0:1.0:0.0:0.0	19.041	0.92980	731	0.54177	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	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	0.017241	0.003049	0.000000	0.02632	760.33	34	chr8	17642622	.	C	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.518;DP=742;ExcessHet=0;FS=11.549;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-2.427;SOR=0.105	GT:AD:DP:GQ:PL	0/1:29,28:57:99:774,0,954	18	0	1	0
chr8	22579203	22579203	C	G	exonic	PDLIM2	.	nonsynonymous SNV	PDLIM2:NM_021630:exon1:c.C424G:p.R142G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.116394088399	.	.	0.0020	0	0	0	.	0	0	0.0026	6.47e-05	10	154602	rs757530477	7.292e-05	7.798e-05	3.486e-05	0.0001	0.0012	6.033e-05	5.584e-05	0.0010	0.0009	0	0.0002	0	0	0	0	1.295e-05	0.0001	0.0012	3.292e-05	3.284e-05	1.287e-05	5.394e-05	0.0008	1.263e-05	7.99e-06	0.0003	0.0002	0	0	6.555e-05	0	0	0	0	0	0	0.0008	0.093	0.31532	T	0.189	0.28575	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.12	0.08106	T	0.21	0.04776	N	0.201	0.22228	-1.0449	0.15854	T	0.029	0.12585	T	6	0.009857386	0.00221	T	0.116394	0.79587	D	0.051	0.14325	0.238	0.16912	0.335414705075	0.33150	0.06725961895051882	0.06663	0.0974248291006	0.11002	0.763840258121	0.76502	T	.	.	.	-0.653603	0.00069	T	-0.757184	0.03214	T	0.0238708107466342	0.01129	T	0.325667	0.06705	T	.	.	.	.	.	.	.	.	-3.236	0.12926	T	.	.	0.085	0.09965	B	.;.	.;.	1.551373	0.19880	14.48	0.68043650060550465	0.08538	0.42871	0.26973	N	ALL	0.115680	0.22735	N	-0.384360093435654	0.26026	1.417276	-0.468378749097557	0.23029	1.253861	0.999999991938095	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	5.01	4.11	0.47350	-0.001000	0.12880	0.657000	0.20469	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.540000	0.29938	0.0:0.8143:0.1857:0.0	11.226	0.48116	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	388.33	31	chr8	22579203	.	C	G	388.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.025;SOR=0.675	GT:AD:DP:GQ:PL	0/1:11,16:27:99:402,0,201	18	0	1	0
chr8	23249347	23249347	C	T	exonic	CHMP7	.	nonsynonymous SNV	CHMP7:NM_001317899:exon2:c.C107T:p.A36V,CHMP7:NM_001363183:exon2:c.C437T:p.A146V,CHMP7:NM_152272:exon3:c.C437T:p.A146V	.	427	1077	17	1	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.012568833314	0.0009	0.00159744	0.0015	0.0002	0.0003	0	0	0.0011	0.0023	0.0070	0.001313	203	154602	rs149327190	0.0010	0.0010	0.0008	0.0012	0.0066	0.0009	0.0009	0.0062	0.0060	5.998e-05	0.0005	0.0023	5.061e-05	1.875e-05	0.0038	0.0006	0.0013	0.0066	0.0007	0.0007	0.0007	0.0007	0.0060	0.0006	0.0006	0.0043	0.0037	0.0002	0	0.0005	0.0020	0	9.427e-05	0	0.0008	0.0005	0.0060	0.261	0.16520	T	0.586	0.08332	T	0.003	0.11197	B	0.001	0.04355	B	0.083396	0.20756	N	0.519807	0.999726	0.20581	N	-1.04	0.01097	N	0.33	0.58323	T	-0.47	0.15178	N	0.121	0.11197	-1.0553	0.12961	T	0.075	0.30242	T	10	0.006122589	0.00138	T	0.012569	0.31260	T	0.037	0.09474	.	.	0.478353003129	0.47464	0.1985158102354756	0.19768	0.613198805805	0.55896	0.357447326183	0.19013	T	0.034475	0.23338	T	-0.527984	0.00395	T	-0.527603	0.19526	T	0.0113071901522522	0.00167	T	0.812919	0.46506	T	0.06704443	0.14481	0.063062795	0.12434	0.06704443	0.14480	0.063062795	0.12434	-3.978	0.23473	T	.	.	0.087	0.11220	B	.;.	.;.	2.024612	0.25732	16.87	0.2089172450394704	0.00772	0.47149	0.27918	N	AEFDBCI	0.084966	0.17222	N	-0.510480017359591	0.21740	1.155969	-0.310405356382386	0.27761	1.542788	0.999994355004378	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	4.66	0.57857	1.272000	0.32712	4.871000	0.45567	0.547000	0.25779	0.593000	0.27690	1.000000	0.68203	0.934000	0.47231	0.2635:0.6543:0.0:0.0822	7.057	0.24283	760	0.50470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	1540.33	40	chr8	23249347	.	C	T	1540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.53;DP=807;ExcessHet=0;FS=0.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=1.76;SOR=0.81	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1554,0,1962	18	0	1	0
chr8	27987608	27987608	T	C	exonic	SCARA5	.	nonsynonymous SNV	SCARA5:NM_173833:exon2:c.A8G:p.N3S	.	392	1124	6	0	0	6	0.00266193	.	.	.	2356463	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.417	0.320820202439	0.0012	0.000199681	0.0009	0	0.0013	0	0.0005	0.0013	0	0.0002	0.0009508	147	154602	rs141394036	0.0011	0.0011	0.0011	0.0011	0.0020	0.0010	0.0010	0.0017	0.0016	0.0002	0.0020	0.0003	0	0.0002	0.0012	0.0012	0.0012	0.0002	0.0010	0.0010	0.0009	0.0011	0.0019	0.0009	0.0008	0.0014	0.0012	0.0002	0	0.0019	0.0009	0	9.416e-05	0	0.0016	0.0019	0	0.085	0.91255	T	0.025	0.92824	D	0.997	0.70673	D	0.97	0.78936	D	0.000000	0.84330	D	0.000000	0.995626	0.42778	D	1.955	0.52871	M	-2.77	0.95728	D	-1.72	0.40850	N	0.371	0.58968	1.004	0.97250	D	0.906	0.96889	D	10	0.053706646	0.05604	T	0.32082	0.91468	D	0.417	0.72705	.	.	0.95874334193	0.95830	0.3587172149195498	0.35785	0.77887452437	0.65170	0.627963781357	0.56856	T	0.083476	0.37062	T	-0.230819	0.16540	T	-0.110499	0.62572	T	0.0483746317279212	0.05211	T	0.937406	0.78426	D	0.16944501	0.37461	0.1966285	0.43402	0.16944501	0.37461	0.1966285	0.43401	-4.836	0.35008	T	.	.	0.149	0.48438	B	.;.;.;.	.;.;.;.	2.901712	0.38459	20.7	0.99479630494477445	0.66795	0.69156	0.34077	D	AEFDGBCI	0.612250	0.60039	D	0.507181348469424	0.67512	5.091728	0.444463696761855	0.64363	4.689637	0.99999989655611	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	1.943000	0.39880	6.168000	0.54445	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.0:0.0:1.0	13.476	0.60759	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	727.33	38	chr8	27987608	.	T	C	727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.619;DP=698;ExcessHet=0;FS=4.504;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.992;SOR=1.214	GT:AD:DP:GQ:PL	0/1:40,33:73:99:741,0,1027	18	0	1	0
chr8	30069842	30069842	G	A	exonic	SARAF	.	nonsynonymous SNV	SARAF:NM_016127:exon3:c.C500T:p.S167L	.	436	1084	2	0	0	2	0.000921659	.	.	.	2348284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.0142140845837	0.0004	.	0.0001	0.0009	0	0	0	1.499e-05	0	0.0004	0.00011	17	154602	rs200944113	6.43e-05	6.43e-05	5.989e-05	6.875e-05	0.0011	5.361e-05	4.976e-05	0.0008	0.0007	0.0011	8.944e-05	0	0.0002	0	0	2.068e-05	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.537e-05	0	0.0002	0	0	0	0	0	0.009	0.57480	D	0.293	0.20811	T	0.816	0.45573	P	0.265	0.39681	B	0.333456	0.14077	N	0.707145	0.922881	0.81001	D	2.91	0.84121	M	0.88	0.46028	T	-3.09	0.64478	D	0.445	0.48319	-0.9418	0.42330	T	0.134	0.44778	T	10	0.088082016	0.15134	T	0.014214	0.34172	T	0.234	0.53644	.	.	0.573817624435	0.57049	0.42994227209895053	0.42911	0.243943641455	0.26902	0.392231583595	0.23984	T	0.23	0.59595	T	-0.241047	0.15215	T	-0.211759	0.53528	T	0.113346316612449	0.13767	T	0.625537	0.24975	T	0.1407594	0.32462	0.19270387	0.42800	0.1407594	0.32461	0.19270387	0.42799	-6.216	0.48053	T	.	.	0.091	0.16886	B	.;.;.	.;.;.	3.295568	0.45215	22.1	0.99542782398253693	0.70586	0.57276	0.30334	D	AEFBI	0.378967	0.46217	N	-0.0198237719009298	0.40959	2.441512	-0.0978432354458153	0.35479	2.053144	0.999732825897529	0.42341	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	4.81	0.61401	2.607000	0.45964	8.028000	0.76260	0.618000	0.50648	0.075000	0.22209	1.000000	0.68203	0.153000	0.20410	0.0846:0.0:0.9154:0.0	11.684	0.50739	817	0.41665	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	891.33	45	chr8	30069842	.	G	A	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.444;DP=835;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.566;SOR=0.713	GT:AD:DP:GQ:PL	0/1:55,37:92:99:905,0,1408	18	0	1	0
chr8	35722227	35722227	G	A	exonic	UNC5D	.	nonsynonymous SNV	UNC5D:NM_001322818:exon9:c.G1120A:p.D374N,UNC5D:NM_080872:exon9:c.G1135A:p.D379N	.	430	1090	2	0	0	2	0.00091659	.	.	.	3345052	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.0349634579822	.	.	0.0002	0	0.0003	0	0.0002	0.0001	0	0.0004	0.0001488	23	154602	rs770644786	8.759e-05	8.824e-05	7.898e-05	9.628e-05	0.0018	7.49e-05	7.037e-05	0.0010	0.0007	5.977e-05	6.716e-05	0.0007	0	9.363e-05	0.0018	4.677e-05	0.0002	0.0003	9.2e-05	9.194e-05	7.708e-05	0.0001	0.0006	5.528e-05	4.365e-05	0.0002	8.989e-05	4.828e-05	0	6.542e-05	0.0003	0	0	0	7.349e-05	0.0010	0.0006	0.013	0.53900	D	0.05	0.50809	T	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.505	0.72935	M	0.42	0.57419	T	-4.34	0.76822	D	0.784	0.83885	-0.3454	0.73687	T	0.361	0.72262	T	10	0.6580844	0.69992	D	0.034963	0.56032	D	0.404	0.71714	.	.	0.708872499182	0.70633	0.7930001997075418	0.79253	1.2521105706	0.81831	0.801438808441	0.82182	T	0.308892	0.68095	T	-0.276561	0.11036	T	-0.342889	0.40017	T	0.584919691085815	0.35808	D	0.971203	0.89831	D	0.48315507	0.66091	0.38906974	0.63735	0.48315507	0.66092	0.38906974	0.63735	-7.407	0.56954	T	.	.	0.153	0.40586	B	.;.;.;.;.	.;.;.;.;.	5.156602	0.86392	28.9	0.99920306908844969	0.98721	0.98811	0.87162	D	AEFBI	0.923796	0.90083	D	0.906449050047711	0.92073	11.21796	0.895754984200628	0.95385	13.572	0.999999999998282	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	9.597000	0.97445	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.443	0.94819	606	0.67383	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1372.33	35	chr8	35722227	.	G	A	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=723;ExcessHet=0;FS=1.871;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=0.452;SOR=0.475	GT:AD:DP:GQ:PL	0/1:36,48:84:99:1386,0,826	18	0	1	0
chr8	37844927	37844927	G	A	exonic	BRF2	.	nonsynonymous SNV	BRF2:NM_018310:exon4:c.C823T:p.R275W	.	417	1102	3	0	0	3	0.00135931	.	.	.	3210620	BRF2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.144	0.0149555183157	0.0011	0.00119808	0.0013	0.0006	0.0025	0	0.0002	0.0018	0.0011	0.0002	0.0013713	212	154602	rs144553072	0.0016	0.0016	0.0016	0.0016	0.0049	0.0016	0.0015	0.0034	0.0030	0.0002	0.0025	0.0024	2.519e-05	0.0001	0.0049	0.0019	0.0013	0.0002	0.0015	0.0015	0.0014	0.0015	0.0035	0.0013	0.0012	0.0028	0.0025	0.0004	0	0.0035	0.0020	0	0	0	0.0020	0.0033	0.0002	0.008	0.58626	D	0.014	0.62352	D	0.997	0.70673	D	0.513	0.47989	P	0.000906	0.41128	D	0.237808	1	0.81001	D	1.87	0.49600	L	.	.	.	-2.56	0.55339	D	0.291	0.32921	-0.6713	0.61770	T	0.207	0.56622	T	9	0.0105267465	0.00234	T	0.014956	0.35409	T	0.144	0.38394	.	.	0.685979293142	0.68329	0.4784661507835182	0.47766	0.391737070457	0.40370	0.242206454277	0.02992	T	0.241363	0.60988	T	-0.327288	0.06319	T	-0.24783	0.50032	T	0.0274358040652158	0.01606	T	0.878312	0.59309	D	0.18296203	0.39540	0.11745158	0.28354	0.18296203	0.39540	0.11745158	0.28353	-10.16	0.74864	D	.	.	0.155	0.34316	B	.	.	4.401433	0.68008	25.2	0.99918597740979609	0.98586	0.66867	0.33228	D	AEFDBCI	0.341850	0.43820	N	0.295358880157705	0.55913	3.75543	0.281580453878784	0.54466	3.611345	0.999997132198618	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.64	5.64	0.86480	1.873000	0.39195	7.352000	0.58300	0.676000	0.76740	0.356000	0.25809	0.999000	0.35428	0.973000	0.55318	0.0:0.0:0.7378:0.2622	13.292	0.59709	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.010101	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1243.33	36	chr8	37844927	.	G	A	1243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=747;ExcessHet=0;FS=2.354;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-0.753;SOR=0.662	GT:AD:DP:GQ:PL	0/1:73,48:121:99:1257,0,1891	18	0	1	0
chr8	67291967	67291967	C	A	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon6:c.G796T:p.D266Y	.	436	1069	16	1	0	18	0.00834879	.	.	.	700634	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00681871477776	0.0059	0.00279553	0.0046	0.0007	0.0030	0	0.0005	0.0062	0.0044	0.0058	0.0047347	732	154602	rs61753695	0.0060	0.0060	0.0059	0.0060	0.0107	0.0059	0.0058	0.0086	0.0078	0.0016	0.0040	0.0036	0	0.0009	0.0107	0.0067	0.0051	0.0058	0.0042	0.0042	0.0043	0.0040	0.0073	0.0039	0.0038	0.0065	0.0063	0.0009	0.0011	0.0033	0.0032	0	0.0006	0.0102	0.0070	0.0076	0.0073	0.032	0.44694	D	0.037	0.51737	D	0.476	0.36665	P	0.054	0.25828	B	0.081422	0.20866	N	0.484682	0.986106	0.40381	D	0.69	0.16971	N	2.08	0.20255	T	-1.15	0.29525	N	0.545	0.57177	-1.0929	0.05066	T	0.029	0.12497	T	10	0.005772054	0.00129	T	0.006819	0.18037	T	0.077	0.22490	.	.	0.307279486299	0.30330	0.44033713089806176	0.43950	0.497859118466	0.48274	0.445733129978	0.31362	T	0.117077	0.43690	T	-0.439794	0.01297	T	-0.398254	0.33588	T	0.0143853665426421	0.00289	T	0.884911	0.60954	D	0.15221918	0.34564	0.11319859	0.27318	0.15221918	0.34564	0.11319859	0.27317	-5.814	0.44696	T	.	.	0.090	0.12702	B	.	.	3.798646	0.54724	23.5	0.96828878985132449	0.31255	0.98252	0.80950	D	AEFBI	0.494086	0.53003	N	-0.0247180275466265	0.40739	2.424495	0.0874492119608175	0.43914	2.683554	0.999998093037499	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.930000	0.48618	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.0:1.0:0.0:0.0	18.363	0.90322	452	0.79239	.	.	.	.	.	.	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	0.012085	0.010101	0.009511	0.011696	0.000000	0.034483	0.006098	0.015152	0.02632	1441.33	33	chr8	67291967	.	C	A	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.763;DP=743;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.461;SOR=0.664	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1455,0,1497	18	0	1	0
chr8	74845442	74845442	G	T	exonic	PI15	.	nonsynonymous SNV	PI15:NM_001324403:exon5:c.G586T:p.V196F,PI15:NM_015886:exon5:c.G586T:p.V196F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.0180772845543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.113	0.36901	T	1.0	0.90584	D	0.991	0.79672	D	0.000198	0.48115	D	0.180201	1	0.81001	D	1.94	0.52218	M	3.23	0.06931	T	-4.84	0.81030	D	0.816	0.81162	-1.1787	0.00389	T	0.076	0.30492	T	10	0.68574613	0.71550	D	0.018077	0.40021	T	0.369	0.68844	0.597	0.72739	0.0986583533028	0.09354	0.8630792589409749	0.86271	1.27903647777	0.82479	0.654615163803	0.60641	T	0.055288	0.29963	T	0.120221	0.66394	D	-0.065087	0.65975	T	0.997546017169952	0.91815	D	0.967103	0.88031	D	0.78822064	0.83162	0.5895837	0.76189	0.78822064	0.83164	0.5895837	0.76190	-13.092	0.89738	D	.	.	0.966	0.88899	P	.;.;.	.;.;.	3.979746	0.58499	24.0	0.99521538108910146	0.69284	0.98904	0.88416	D	AEFDBI	0.922351	0.89719	D	0.812224415993616	0.86865	9.024497	0.791915255337454	0.89225	9.888722	0.999999999761967	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	7.777000	0.84262	9.990000	0.82978	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.0:1.0:0.0	19.39	0.94567	819	0.41190	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1380.33	38	chr8	74845442	.	G	T	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=742;ExcessHet=0;FS=11.268;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.006;SOR=1.596	GT:AD:DP:GQ:PL	0/1:55,49:104:99:1394,0,1397	18	0	1	0
chr8	94432184	94432184	T	C	exonic	FSBP	.	nonsynonymous SNV	FSBP:NM_001256141:exon2:c.A847G:p.K283E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0784051801428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.019	0.59159	D	0.698	0.41805	P	0.151	0.34210	B	0.000034	0.55875	D	0.113064	1	0.81001	D	1.04	0.26193	L	0.47	0.56114	T	-1.99	0.45949	N	0.564	0.58798	-0.8537	0.51711	T	0.135	0.44971	T	9	0.34992167	0.51875	T	0.078405	0.72996	D	0.234	0.53644	0.222	0.14518	0.290962096972	0.28708	.	.	.	.	0.525525331497	0.42404	T	0.05424	0.29669	T	0.0771499	0.61705	D	-0.126956	0.61227	T	0.841134905815125	0.49420	D	0.838616	0.51177	T	0.30271062	0.53147	0.35503945	0.61038	0.30271062	0.53147	0.35503945	0.61037	-5.44	0.41303	T	.	.	0.202	0.42578	B	.	.	3.156267	0.42750	21.6	0.99810965088995929	0.89442	0.97590	0.75750	D	AEFBI	0.903342	0.85231	D	0.373157513639736	0.59970	4.181289	0.478486457397726	0.66567	4.968878	0.999999999992934	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.58	5.58	0.84361	7.340000	0.78530	6.213000	0.55036	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.734	0.77596	688	0.59122	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1092.33	33	chr8	94432184	.	T	C	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=709;ExcessHet=0;FS=1.684;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.79;SOR=0.512	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1106,0,1252	18	0	1	0
chr8	120003018	120003018	A	G	exonic	DEPTOR	.	nonsynonymous SNV	DEPTOR:NM_001283012:exon4:c.A529G:p.R177G,DEPTOR:NM_022783:exon6:c.A832G:p.R278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0302459727636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.41364	T	0.021	0.58089	D	0.791	0.44643	P	0.342	0.42471	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.455	0.71248	M	1.75	0.26588	T	-0.37	0.13226	N	0.56	0.61087	-1.0814	0.07079	T	0.093	0.35390	T	10	0.38776237	0.54667	T	0.030246	0.52598	D	0.181	0.45247	0.277	0.23004	0.605748623547	0.60258	0.7018588803328227	0.70126	0.438039832691	0.43841	0.581783652306	0.50336	T	0.078278	0.35854	T	0.0270994	0.55337	T	-0.19885	0.54755	T	0.908804476261139	0.56350	D	0.960404	0.85096	D	0.2294597	0.45683	0.19343589	0.42913	0.2294597	0.45683	0.19343589	0.42912	-5.445	0.42600	T	.	.	0.704	0.75140	P	.;.	.;.	3.642270	0.51645	23.1	0.99766428396046059	0.85500	0.73817	0.36106	D	AEFBCI	0.577459	0.57905	D	0.234669612631299	0.52886	3.46007	0.246816684119955	0.52470	3.421458	0.0103420403289667	0.12009	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.31	4.13	0.47661	2.057000	0.40991	4.504000	0.43621	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.6827:0.3173:0.0:0.0	10.345	0.43086	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	354.33	34	chr8	120003018	.	A	G	354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.928;DP=661;ExcessHet=0;FS=1.128;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=1.81;SOR=0.518	GT:AD:DP:GQ:PL	0/1:29,18:47:99:368,0,819	18	0	1	0
chr8	132039103	132039103	G	A	exonic	OC90	.	nonsynonymous SNV	OC90:NM_001080399:exon7:c.C478T:p.H160Y	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0010	0.000998403	0.0022	0.0008	0.0030	0	0	0.0022	0.0106	0.0037	0.0015653	242	154602	rs139781048	0.0012	0.0012	0.0011	0.0013	0.0170	0.0011	0.0011	0.0143	0.0133	0.0014	0.0020	0.0107	0	0	0.0170	0.0008	0.0024	0.0025	0.0011	0.0011	0.0011	0.0011	0.0024	0.0010	0.0009	0.0017	0.0015	0.0006	0	0.0024	0.0092	0.0002	0	0.0238	0.0007	0.0047	0.0010	0.051	0.56456	T	0.034	0.52727	D	0.945	0.53279	P	0.74	0.55692	P	0.004293	0.33902	N	0.284900	0.999643	0.20796	N	1.775	0.45938	L	1.72	0.26588	T	-1.93	0.46842	N	0.296	0.33469	-1.1150	0.02673	T	0.043	0.18701	T	10	0.008422524	0.00191	T	.	.	.	0.058	0.16647	.	.	0.265929055128	0.26215	0.6251581982011559	0.62448	0.00750058978399	0.00664	0.261331796646	0.05051	T	0.053556	0.29476	T	-0.520189	0.00439	T	-0.52523	0.19765	T	0.0210623207116241	0.00808	T	0.831017	0.49766	T	0.13364954	0.31078	0.14786899	0.34975	0.13364954	0.31078	0.14786899	0.34975	-8.183	0.62310	D	.	.	0.086	0.14108	B	.;.	.;.	4.125894	0.61706	24.4	0.99655667389159486	0.77568	0.84100	0.43185	D	AEFDBI	0.297392	0.40698	N	0.293387317937072	0.55813	3.745385	0.313604758208095	0.56338	3.797043	0.387304361723974	0.20014	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.61	3.72	0.41857	3.101000	0.49974	7.409000	0.58630	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.976000	0.56436	0.0873:0.0:0.7504:0.1624	7.386	0.26058	785	0.46916	Phospholipase A2 domain|Phospholipase A2 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	0.016113	0.005051	0.031250	0.017544	0.050000	0.017241	0.000000	0.000000	0.02632	761.33	35	chr8	132039103	.	G	A	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.012;DP=693;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.999;SOR=0.886	GT:AD:DP:GQ:PL	0/1:45,31:76:99:775,0,1201	18	0	1	0
chr8	143858247	143858247	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G15007A:p.G5003S	.	6	1506	10	0	0	10	0.00330907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781989415	0.0002	0.0005	0.0002	0.0003	0.0022	0.0002	0.0002	0.0020	0.0019	0.0001	0	0	2.526e-05	0	0.0006	0.0001	0.0003	0.0022	4.001e-05	7.227e-05	2.605e-05	5.467e-05	0.0002	1.736e-05	1.143e-05	1.179e-05	6.27e-06	2.468e-05	0	0	0	0	9.634e-05	0	4.441e-05	0	0.0002	.	.	.	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.997574	0.44002	D	.	.	.	.	.	.	.	.	.	0.202	0.22357	0.100	0.84169	D	0.531	0.82583	D	9	0.03469062	0.01687	T	0.035166	0.56165	D	.	.	.	.	0.599093849917	0.59590	0.5625232093572086	0.56179	.	.	0.458816915751	0.33148	T	.	.	.	-0.277927	0.10889	T	-0.178783	0.56635	T	0.333741370655056	0.26375	T	0.947205	0.79675	D	0.121298105	0.28527	0.16371429	0.37963	0.121298105	0.28527	0.16371429	0.37962	-11.577	0.82729	D	.	.	0.748	0.74947	P	.;.	.;.	3.585182	0.50567	23.0	0.99857698313710819	0.93639	0.97753	0.76883	D	AEFGBCI	.	.	.	0.76914793535542	0.84147	8.206939	0.708408127109433	0.83016	7.912752	0.999999999999674	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.06	5.06	0.67838	4.662000	0.61220	.	.	0.443000	0.21123	0.412000	0.26266	0.082000	0.22400	0.977000	0.56843	0.0:1.0:0.0:0.0	15.974	0.79840	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	438.83	40	chr8	143858247	.	C	T	438.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.063;DP=1169;ExcessHet=0.119;FS=16.708;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=32.52;MQRankSum=-1.199;QD=1.38;ReadPosRankSum=2.02;SOR=0.186	GT:AD:DP:GQ:PL	0/1:115,21:136:99:130,0,2913	17	0	2	0
chr8	144312185	144312185	-	GCCC	exonic	HSF1	.	frameshift insertion	HSF1:NM_005526:exon9:c.1083_1084insGCCC:p.P362Afs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	6.263e-05	0.0001	0.0002	7.735e-05	8.086e-05	0	0.0002	0.0002	5.896e-05	0.0002	0.0004	0.0002	0.0001	0.0004	0.0001	9.142e-05	7.271e-05	4.34e-05	5.156e-05	0	0.0001	0.0003	0.0004	0.0006	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	158.29	44	chr8	144312185	.	T	TGCCC	158.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.17;DP=711;ExcessHet=0;FS=90.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=-3.524;SOR=4.796	GT:AD:DP:GQ:PL	0/1:31,8:41:99:172,0,1315	18	0	1	0
chr8	144521065	144521065	C	A	exonic	LRRC14	.	nonsynonymous SNV	LRRC14:NM_014665:exon4:c.C1069A:p.Q357K,LRRC14:NM_001272036:exon5:c.C1069A:p.Q357K	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0148807811488	.	.	1.66e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs747178364	6.162e-06	6.156e-06	2.725e-06	9.633e-06	8.115e-05	2.9e-06	2.1e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	8.993e-07	1.656e-05	8.115e-05	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.607	0.05517	T	0.52	0.10465	T	0.667	0.41107	P	0.207	0.37187	B	0.000059	0.53742	D	0.132879	0.617867	0.30805	N	1.765	0.45800	L	3.08	0.08460	T	-1.53	0.37178	N	0.379	0.42443	-1.0715	0.09086	T	0.027	0.11707	T	10	0.20729005	0.37020	T	0.014881	0.35280	T	0.119	0.33137	0.56	0.67958	0.328222422547	0.32431	0.42071366843750235	0.41987	0.887839185907	0.70081	0.477572977543	0.35722	T	0.095282	0.39589	T	-0.340234	0.05371	T	-0.489831	0.23409	T	0.171239838004112	0.18664	T	0.741226	0.36032	T	0.15130429	0.34402	0.10089765	0.24138	0.15130429	0.34402	0.10089765	0.24138	-6.707	0.51863	T	.	.	0.205	0.43989	B	.;.	.;.	2.539107	0.32839	19.16	0.90286846455567926	0.19555	0.45906	0.27642	N	AEFDGBCI	0.199296	0.32610	N	-0.234653745272503	0.31719	1.781497	-0.312027065373158	0.27709	1.539535	0.999999966321482	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.69	3.8	0.42887	1.827000	0.38740	4.806000	0.45005	0.599000	0.40250	0.295000	0.25279	1.000000	0.68203	0.360000	0.25886	0.1751:0.8249:0.0:0.0	11.951	0.52243	880	0.29376	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2514.33	52	chr8	144521065	.	C	A	2514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.7;DP=898;ExcessHet=0;FS=14.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.188;SOR=1.351	GT:AD:DP:GQ:PL	0/1:87,86:173:99:2528,0,2481	18	0	1	0
chr8	144774525	144774525	C	T	exonic	ZNF34	.	nonsynonymous SNV	ZNF34:NM_001286770:exon5:c.G304A:p.V102I,ZNF34:NM_001378029:exon5:c.G241A:p.V81I,ZNF34:NM_001286769:exon6:c.G361A:p.V121I,ZNF34:NM_030580:exon6:c.G424A:p.V142I,ZNF34:NM_001378027:exon7:c.G361A:p.V121I,ZNF34:NM_001378028:exon7:c.G361A:p.V121I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00209092900719	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754943835	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.35165	T	0.425	0.13912	T	0.018	0.17786	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.3	0.06602	T	-0.25	0.11366	N	0.064	0.03956	-0.9171	0.45945	T	0.010	0.03765	T	9	0.0644331	0.08546	T	0.002091	0.03855	T	0.059	0.16972	0.229	0.15556	0.400613892164	0.39671	0.03575230458950295	0.03522	0.230293417628	0.25578	0.228218704462	0.01839	T	0.017308	0.26632	T	-0.341996	0.05251	T	-0.72903	0.04371	T	0.0224977357521921	0.00964	T	0.290771	0.06756	T	0.012012511	0.00026	0.020702796	0.00150	0.012012511	0.00026	0.020702796	0.00150	-5.305	0.39993	T	.	.	0.082	0.18372	B	.;.;.;.	.;.;.;.	0.227874	0.06097	2.539	0.92428593801339942	0.21848	0.07313	0.13335	N	AEFBI	0.032638	0.03724	N	-1.11594839788411	0.06359	0.2924998	-1.14035293994112	0.06942	0.3359115	0.982005966472814	0.30339	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	3.12	0.304	0.15044	-0.321000	0.08060	-0.406000	0.09378	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.0:0.525:0.1625:0.3125	4.760	0.12478	856	0.34373	.;.;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1765.33	33	chr8	144774525	.	C	T	1765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.551;DP=812;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.281;SOR=0.883	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1779,0,1954	18	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	5413.13	34	chr9	117371	.	C	*	5413.13	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1.27;DP=562;ExcessHet=0.5308;FS=2.672;InbreedingCoeff=0.1364;MLEAC=7;MLEAF=0.184;MQ=45.91;MQRankSum=-4.389;QD=13.04;ReadPosRankSum=0.019;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,20:38:99:1|0:117366_C_CCG:1478,656,683:117366	13	1	5	0
chr9	406999	406999	C	T	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon26:c.C3160T:p.R1054C,DOCK8:NM_001193536:exon27:c.C3256T:p.R1086C,DOCK8:NM_203447:exon28:c.C3460T:p.R1154C	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	0	1486	35	1	0	37	0.0122964	.	.	.	407710	not_provided|Combined_immunodeficiency_due_to_DOCK8_deficiency|.|not_specified|DOCK8-related_disorder	MedGen:C3661900|MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390|.|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.016795402292	0.0015	0.00239617	0.0026	0.0002	0.0021	0.0001	0.0008	0.0025	0.0022	0.0068	0.0023932	370	154602	rs34390308	0.0019	0.0019	0.0016	0.0021	0.0085	0.0018	0.0018	0.0066	0.0063	0.0002	0.0015	0.0249	0	0.0011	0.0085	0.0010	0.0029	0.0069	0.0019	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0001	0	0.0033	0.0242	0.0002	0.0008	0.0034	0.0015	0.0038	0.0060	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.049739	1	0.81001	D	1.155	0.29575	L	1.66	0.27486	T	-6.76	0.92736	D	0.833	0.82862	-1.0293	0.20681	T	0.158	0.49027	T	10	0.011115372	0.00244	T	0.016795	0.38225	T	0.288	0.60691	.	.	0.484109215787	0.48041	0.5377113857232877	0.53696	0.306616735053	0.32968	0.624718904495	0.56396	T	0.622668	0.88196	D	-0.235024	0.15989	T	-0.106786	0.62867	T	0.102144606949638	0.12591	T	0.950905	0.84591	D	0.74810517	0.80758	0.6437848	0.79179	0.72038245	0.79184	0.54444253	0.73669	-9.998	0.73900	D	0.5132293498190501	0.58668	0.216	0.50269	B	.;.;.;.	.;.;.;.	5.367910	0.90003	31	0.99947802293846078	0.99923	0.95127	0.63537	D	AEFBIJ	0.747506	0.68954	D	0.650964421836414	0.76433	6.485284	0.672967260541756	0.80332	7.275294	0.999985811417422	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	4.714000	0.61592	5.901000	0.50888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.025	0.97519	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	0.007049	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.015152	0.02632	1712.33	34	chr9	406999	.	C	T	1712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.854;DP=767;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.51;SOR=0.825	GT:AD:DP:GQ:PL	0/1:62,69:131:99:1726,0,1418	18	0	1	0
chr9	990212	990212	A	G	exonic	DMRT3	.	nonsynonymous SNV	DMRT3:NM_021240:exon2:c.A626G:p.K209R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0154107370736	7.7e-05	.	8.258e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs143922008	5.609e-05	5.609e-05	5.173e-05	6.05e-05	7.284e-05	4.61e-05	4.236e-05	5.972e-05	5.461e-05	0	0	0	0	0	0	7.284e-05	1.656e-05	0	1.315e-05	1.313e-05	1.286e-05	1.347e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.051	0.55530	T	0.31	0.52727	T	0.533	0.37766	P	0.076	0.28435	B	0.000013	0.62929	D	0.110180	0.997166	0.43677	D	2.485	0.72352	M	1.56	0.29602	T	-1.04	0.54217	N	0.308	0.34767	-1.0678	0.09903	T	0.073	0.29643	T	10	0.19365114	0.35143	T	0.015411	0.36125	T	0.145	0.38592	.	.	0.688469797871	0.68580	0.2179509124866459	0.21711	0.355419079647	0.37306	0.56417542696	0.47857	T	0.154057	0.49518	T	-0.151605	0.28060	T	-0.44006	0.28801	T	0.631207168102264	0.37668	D	0.812919	0.47040	T	0.10952937	0.25895	0.15898986	0.37101	0.10952937	0.25895	0.15898986	0.37100	-3.177	0.12202	T	.	.	0.082	0.19276	B	.;.	.;.	2.855469	0.37709	20.6	0.98527275969795469	0.42545	0.97011	0.72175	D	AEBI	0.656150	0.62824	D	-0.0980296154248294	0.37478	2.181006	-0.113165004693253	0.34859	2.009949	0.998708686458729	0.37498	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	6.680000	0.74351	11.206000	0.89223	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	1.0:0.0:0.0:0.0	14.393	0.66558	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	.	.	.	.	.	.	.	.	0.02632	1698.33	35	chr9	990212	.	A	G	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.161;DP=945;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.062;SOR=0.771	GT:AD:DP:GQ:PL	0/1:69,63:132:99:1712,0,1897	18	0	1	0
chr9	2812337	2812337	A	G	exonic	PUM3	.	nonsynonymous SNV	PUM3:NM_014878:exon14:c.T1295C:p.I432T	.	442	1079	0	1	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0123265221805	7.7e-05	0.000399361	0.0002	0	0	0.0009	0	0.0003	0	6.064e-05	0.0002135	33	154602	rs150766325	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0036	0.0034	0	0	0.0031	0.0041	1.876e-05	0.0005	4.225e-05	0.0003	5.877e-05	0.0001	0.0001	0.0002	0.0001	0.0010	8.659e-05	7.252e-05	0.0004	0.0002	0	0	0	0.0029	0.0010	0	0	5.881e-05	0.0005	0	0.003	0.68238	D	0.015	0.61642	D	0.975	0.58077	D	0.77	0.56828	P	0.000000	0.84330	D	0.088362	0.999993	0.58761	D	.	.	.	2.36	0.16089	T	-4.05	0.74504	D	0.801	0.79696	-1.1231	0.02144	T	0.063	0.26314	T	10	0.04796514	0.04185	T	0.012327	0.30806	T	0.251	0.56024	.	.	0.190952846119	0.18690	0.6171176629959607	0.61643	0.00422031618928	0.00371	0.597019314766	0.52483	T	0.152948	0.49358	T	-0.135867	0.30551	T	-0.0902097	0.64146	T	0.14886119844207	0.17012	T	0.847215	0.52823	T	0.7516476	0.80964	0.6571458	0.79922	0.7516476	0.80965	0.6571458	0.79923	-7.096	0.54732	T	.	.	0.215	0.44410	B	.	.	4.655174	0.74246	26.1	0.99635728812327551	0.76326	0.99316	0.94394	D	AEFBI	0.719410	0.67030	D	0.517330808666098	0.68115	5.17293	0.563115428636858	0.72317	5.790466	0.999999999992837	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	8.492000	0.90309	9.402000	0.80650	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.896	0.79116	835	0.38313	Pumilio homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	642.33	33	chr9	2812337	.	A	G	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.505;DP=664;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.29;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,25:50:99:656,0,647	18	0	1	0
chr9	5765705	5765705	G	C	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001206557:exon20:c.G2933C:p.S978T,RIC1:NM_001135920:exon21:c.G3044C:p.S1015T,RIC1:NM_020829:exon21:c.G3044C:p.S1015T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.00929231836231	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs770037642	1.505e-05	1.505e-05	2.178e-05	8.25e-06	0.0002	9.85e-06	8.41e-06	4.358e-05	2.767e-05	0	0.0001	0.0002	0	0	0.0002	3.597e-06	6.623e-05	2.319e-05	2.628e-05	2.627e-05	5.139e-05	0	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0.0005	0	0.004	0.91255	D	0.048	0.49942	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	.	.	.	-1.8	0.42384	N	0.531	0.56576	-0.4733	0.69609	T	0.348	0.71233	T	9	0.29450607	0.47022	T	0.009292	0.24389	T	0.245	0.55201	0.145	0.04843	0.206203607746	0.20212	0.500145256871519	0.49935	.	.	0.748485922813	0.74224	T	0.085356	0.37482	T	0.132472	0.67603	D	0.0493645	0.73542	D	0.637494564056396	0.37931	D	0.933207	0.74971	D	0.47927323	0.65856	0.6243248	0.78105	0.47927323	0.65857	0.6243248	0.78106	-8.473	0.69318	D	.	.	0.363	0.57386	A	.;.;.	.;.;.	4.193182	0.63219	24.6	0.99507544942235171	0.68440	0.99469	0.96414	D	AEFBI	0.885022	0.81519	D	0.741117835078597	0.82326	7.734927	0.798409450577968	0.89684	10.07697	0.999999999999993	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	9.602000	0.97623	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.595	0.99442	457	0.78953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2166.33	35	chr9	5765705	.	G	C	2166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.205;DP=813;ExcessHet=0;FS=2.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.358;SOR=0.519	GT:AD:DP:GQ:PL	0/1:101,87:188:99:2180,0,2629	18	0	1	0
chr9	6990510	6990510	C	T	exonic	KDM4C	.	nonsynonymous SNV	KDM4C:NM_001146695:exon12:c.C1772T:p.A591V,KDM4C:NM_001146696:exon12:c.C1838T:p.A613V,KDM4C:NM_001304339:exon12:c.C1772T:p.A591V,KDM4C:NM_001353997:exon12:c.C1772T:p.A591V,KDM4C:NM_001353998:exon12:c.C1772T:p.A591V,KDM4C:NM_015061:exon12:c.C1772T:p.A591V,KDM4C:NM_001353999:exon13:c.C461T:p.A154V,KDM4C:NM_001354000:exon13:c.C461T:p.A154V,KDM4C:NM_001354001:exon13:c.C461T:p.A154V	.	434	1085	3	0	0	3	0.00138058	.	.	.	3445336	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.0125152651248	0.0002	0.000199681	0.0002	0	8.831e-05	0	0	0.0003	0	0.0003	0.0001552	24	154602	rs151291155	0.0001	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0004	0.0004	0.0001	0.0002	0.0007	0	0	0.0007	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0002	7.671e-05	6.36e-05	7.929e-05	6.009e-05	0	0	0.0001	0.0006	0	0.0002	0.0034	0.0001	0	0.0002	0.296	0.18498	T	0.234	0.33894	T	0.077	0.24313	B	0.024	0.20255	B	0.002452	0.36537	N	0.294931	0.997269	0.81001	D	1.475	0.37068	L	0.66	0.52416	T	-1.58	0.38151	N	0.135	0.22870	-1.0844	0.06517	T	0.078	0.31224	T	10	0.028247267	0.00959	T	0.012515	0.31146	T	0.033	0.08068	.	.	0.518697010188	0.51514	0.32115703515466926	0.32028	0.0412125781724	0.04422	0.400769472122	0.25176	T	0.009558	0.15610	T	-0.433413	0.01414	T	-0.521952	0.20097	T	0.0298135883694447	0.01960	T	0.878612	0.59601	D	0.030866431	0.02824	0.04018472	0.04286	0.030866431	0.02823	0.04018472	0.04285	-2.741	0.16854	T	.	.	0.093	0.14842	B	.;.;.;.;.	.;.;.;.;.	2.697219	0.35225	19.84	0.99031583058860395	0.50808	0.88127	0.47919	D	AEFBI	0.301181	0.40977	N	-0.331799668978794	0.27947	1.537422	-0.217198000480421	0.30918	1.745114	0.817788421850889	0.24469	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	4.8	2.93	0.33092	2.941000	0.48703	1.631000	0.27739	0.599000	0.40250	0.991000	0.37257	0.915000	0.28207	0.900000	0.43643	0.0:0.8202:0.0:0.1798	8.652	0.33202	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	458.33	34	chr9	6990510	.	C	T	458.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.108;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.165;SOR=0.735	GT:AD:DP:GQ:PL	0/1:24,22:46:99:472,0,545	18	0	1	0
chr9	14805068	14805068	T	A	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon19:c.A3359T:p.Q1120L,FREM1:NM_144966:exon20:c.A3359T:p.Q1120L	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	.	317781	FREM1-related_disorder|Oculotrichoanal_syndrome|not_provided	.|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	0.0227178209821	0.0008	0.000798722	0.0011	0	0.0005	0	0	0.0014	0.0022	0.0024	0.0010284	159	154602	rs143844459	0.0012	0.0012	0.0011	0.0013	0.0054	0.0012	0.0012	0.0039	0.0034	0.0002	0.0004	0.0010	2.52e-05	0.0002	0.0054	0.0013	0.0014	0.0025	0.0008	0.0008	0.0008	0.0008	0.0035	0.0007	0.0006	0.0022	0.0018	0.0001	0	0.0005	0.0006	0	0.0002	0.0034	0.0012	0.0019	0.0035	0.42	0.09836	T	0.482	0.11829	T	0.0	0.02946	B	0.005	0.11217	B	0.000403	0.44736	D	0.236168	0.990159	0.41099	D	2.77	0.80896	M	1.53	0.30401	T	-3.99	0.73893	D	0.531	0.55972	-1.0682	0.09813	T	0.069	0.28247	T	10	0.015783757	0.00331	T	0.022718	0.45634	T	0.165	0.42395	.	.	0.199424873507	0.19547	0.7283065100665023	0.72774	.	.	0.314585268497	0.12600	T	0.294009	0.66670	T	-0.438087	0.01327	T	-0.407295	0.32537	T	0.0857844060635568	0.10709	T	0.514549	0.16570	T	0.2672724	0.49799	0.2781919	0.53778	0.29420304	0.52380	0.27394274	0.53317	-8.491	0.64370	D	0.6776784439726964	0.75363	0.110	0.21125	B	.;.	.;.	2.605189	0.33824	19.45	0.87385432354807857	0.17190	0.96364	0.68777	D	AEFBI	0.819752	0.74069	D	-0.491567259811332	0.22356	1.193185	-0.367016167580554	0.25988	1.432588	0.941010142749974	0.27457	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.42	4.28	0.50183	4.671000	0.61283	0.183000	0.15654	-0.126000	0.13398	1.000000	0.71638	0.992000	0.31684	0.155000	0.20479	0.1311:0.0:0.0:0.8689	11.842	0.51639	844	0.36711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008152	0.000000	0.000000	0.000000	0.009202	0.000000	0.02632	1261.33	33	chr9	14805068	.	T	A	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=787;ExcessHet=0;FS=2.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.003;SOR=0.954	GT:AD:DP:GQ:PL	0/1:55,50:105:99:1275,0,1343	18	0	1	0
chr9	15744618	15744618	C	T	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon16:c.C2419T:p.R807C,CCDC171:NM_173550:exon17:c.C2395T:p.R799C,CCDC171:NM_001348002:exon18:c.C2140T:p.R714C	.	430	1089	3	0	0	3	0.00137552	.	.	.	2436754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00875984436318	7.7e-05	0.000599042	0.0004	0	0	0	0	0.0001	0	0.0021	0.0003169	49	154602	rs147702342	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	0	0	0.0001	0	0	0.0005	9.982e-05	0.0003	0.0021	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	4.812e-05	0	0	0	0	0	0	0.0002	0.0005	0.0027	0.065	0.36310	T	0.105	0.38016	T	0.001	0.07471	B	0.0	0.01387	B	0.001524	0.38731	N	0.286938	0.999449	0.21182	N	0.55	0.14455	N	2.33	0.16492	T	-2.11	0.48020	N	0.37	0.41162	-1.0041	0.28725	T	0.021	0.08870	T	10	0.008082747	0.00183	T	0.00876	0.23123	T	0.071	0.20720	.	.	0.0611884634855	0.05136	0.24004360405268324	0.23918	.	.	0.316608935595	0.12907	T	0.044035	0.26689	T	-0.506429	0.00526	T	-0.506702	0.21654	T	0.0219206358892067	0.00900	T	0.835117	0.50455	T	0.09581115	0.22556	0.07899068	0.17744	0.09581115	0.22555	0.07899068	0.17744	-4.739	0.33872	T	.	.	0.078	0.06990	B	.	.	2.363401	0.30314	18.40	0.99706827908985041	0.81005	0.05847	0.11790	N	AEFI	0.052521	0.09382	N	-0.929426872133348	0.10159	0.4841165	-0.889350678929598	0.12345	0.6345146	1.2040798604076E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.46	1.45	0.21708	0.186000	0.16787	0.237000	0.16261	0.549000	0.26987	0.049000	0.21372	0.000000	0.08366	0.812000	0.38265	0.0:0.6416:0.1072:0.2512	8.258	0.30929	520	0.74355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	956.33	33	chr9	15744618	.	C	T	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.34;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-1.077;SOR=0.654	GT:AD:DP:GQ:PL	0/1:60,37:97:99:970,0,1631	18	0	1	0
chr9	16738425	16738425	T	C	exonic	BNC2	.	nonsynonymous SNV	BNC2:NM_017637:exon2:c.A64G:p.S22G	.	.	.	.	.	.	.	.	.	.	.	2095540	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00234129457469	0.0008	0.000399361	0.0001	0.0017	0	0	0	0	0	0	0.0001229	19	154602	rs79395563	4.789e-05	4.788e-05	5.309e-05	4.263e-05	0.0017	3.86e-05	3.54e-05	0.0013	0.0012	0.0017	0	0	0	0	0.0007	0	0.0001	0	0.0003	0.0003	0.0004	0.0003	0.0013	0.0003	0.0002	0.0010	0.0009	0.0013	0	0	0	0	0	0	0	0.0005	0	0.712	0.04020	T	0.777	0.04372	T	0.043	0.21573	B	0.007	0.12992	B	0.705936	0.10054	N	0.836981	1	0.08975	N	0	0.06538	N	3.83	0.03702	T	-0.23	0.15578	N	0.159	0.19190	-0.9259	0.44730	T	0.005	0.01578	T	10	0.0037554502	0.00070	T	0.002341	0.04535	T	0.029	0.06676	.	.	0.043077524339	0.03247	0.04027998661345282	0.03973	0.0241015122764	0.02450	0.264336109161	0.05419	T	0.044627	0.26872	T	-0.650771	0.00072	T	-0.726578	0.04484	T	0.00617536609023547	0.00068	T	0.579042	0.22137	T	0.0328609	0.03392	0.030576633	0.01530	0.0328609	0.03391	0.030576633	0.01530	-4.015	0.24027	T	.	.	0.070	0.03515	B	.;.	.;.	0.530655	0.08992	5.775	0.80046989221171383	0.13020	0.02249	0.06516	N	AEFBI	0.060083	0.11394	N	-1.08042574976096	0.07005	0.324108	-1.02496449833351	0.09238	0.4584467	0.809185866722537	0.24324	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.6	1.16	0.19936	-0.334000	0.07927	0.105000	0.14702	0.605000	0.46263	0.000000	0.06391	0.004000	0.18990	0.995000	0.73285	0.2346:0.1344:0.0:0.631	2.494	0.04335	727	0.54702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	819.33	39	chr9	16738425	.	T	C	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.934;DP=804;ExcessHet=0;FS=3.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.393;SOR=1.085	GT:AD:DP:GQ:PL	0/1:36,34:70:99:833,0,981	18	0	1	0
chr9	20929532	20929532	G	A	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon26:c.G3148A:p.V1050M,FOCAD:NM_001375570:exon26:c.G3148A:p.V1050M,FOCAD:NM_001375567:exon27:c.G3253A:p.V1085M,FOCAD:NM_017794:exon29:c.G3253A:p.V1085M	.	432	1079	11	0	0	11	0.00507146	.	.	.	767365	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.369	0.0181318337219	0.0003	0.000399361	0.0005	0	0.0003	0	0	0.0002	0.0011	0.0028	0.0004786	74	154602	rs143564901	0.0004	0.0004	0.0003	0.0005	0.0034	0.0004	0.0004	0.0031	0.0030	0.0001	0.0003	0	5.038e-05	1.872e-05	0.0033	0.0002	0.0007	0.0034	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0001	0	0.0002	0	0	0	0	0.0002	0.0009	0.0012	0.035	0.43708	D	0.02	0.92824	D	.	.	.	.	.	.	0.007025	0.31644	N	0.331333	0.980415	0.39664	D	.	.	.	-1.02	0.76300	T	-0.92	0.24676	N	0.381	0.52297	-0.3440	0.73728	T	0.314	0.68397	T	10	0.01407221	0.00297	T	0.018132	0.40089	T	0.369	0.68844	.	.	0.709331485652	0.70679	0.4688371267529804	0.46802	0.00646287402462	0.00566	0.564574897289	0.47913	T	0.070962	0.34090	T	-0.200618	0.20715	T	-0.0630554	0.66118	T	0.0402515653521763	0.03736	T	0.877312	0.59878	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.36791	B	.;.;.;.;.	.;.;.;.;.	3.509311	0.49139	22.7	0.99677011677302574	0.78977	0.89913	0.50694	D	AEFDBIJ	0.339076	0.43634	N	0.356378925210758	0.59077	4.084305	0.415274820377807	0.62515	4.468268	0.981747679325063	0.30305	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.525792	0.08840	0	.	.	6.06	5.16	0.70563	2.693000	0.46694	6.745000	0.56495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0675:0.1291:0.8034:0.0	10.946	0.46511	435	0.80441	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	3172.83	33	chr9	20929532	.	G	A	3172.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=849;ExcessHet=0.119;FS=0.459;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.82;SOR=0.736	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1538,0,1392	17	0	2	0
chr9	35045208	35045208	C	T	exonic	C9orf131	.	nonsynonymous SNV	C9orf131:NM_001040410:exon2:c.C2474T:p.S825F,C9orf131:NM_001040411:exon2:c.C2360T:p.S787F,C9orf131:NM_001287391:exon2:c.C2360T:p.S787F,C9orf131:NM_203299:exon2:c.C2579T:p.S860F,C9orf131:NM_001040412:exon3:c.C2435T:p.S812F	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.00399361	0.0018	9.61e-05	0.0002	0.0016	0	0	0.0011	0.0124	0.0016171	250	154602	rs114058202	0.0009	0.0009	0.0005	0.0013	0.0136	0.0008	0.0008	0.0130	0.0127	5.974e-05	4.472e-05	0	0.0009	0	0.0007	7.194e-06	0.0009	0.0136	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0005	0.0142	0.0131	2.408e-05	0	0	0	0.0012	0	0	0	0	0.0172	0.068	0.37750	T	0.078	0.42614	T	0.246	0.31102	B	0.094	0.30180	B	0.771055	0.06598	N	1.138220	1	0.08975	N	0.69	0.16971	N	2.46	0.14907	T	-0.85	0.23156	N	0.156	0.20528	-0.9847	0.33903	T	0.036	0.15553	T	10	0.0026289225	0.00040	T	.	.	.	0.007	0.00512	.	.	0.0884992946249	0.08302	0.11655294041468936	0.11583	0.0201779511709	0.01977	.	.	.	0.002006	0.01413	T	-0.628059	0.00098	T	-0.663908	0.08005	T	0.00733321727292316	0.00084	T	0.555844	0.19272	T	0.06191047	0.12872	0.084508315	0.19445	0.06191047	0.12871	0.084508315	0.19445	-4.974	0.36916	T	.	.	0.144	0.31832	B	.;.;.	.;.;.	0.562486	0.09308	6.092	0.78237114923569107	0.12214	0.00313	0.01653	N	AEFBI	.	.	.	-0.994473774484119	0.08721	0.4100027	-1.08645527844553	0.07966	0.3896767	0.98740930161531	0.31257	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.714379	0.83352	0	.	.	4.19	0.418	0.15647	-0.300000	0.08280	-1.352000	0.05645	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4868:0.0:0.5132	6.135	0.19444	105	0.95676	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.000000	0.007576	0.02632	2451.33	46	chr9	35045208	.	C	T	2451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.731;DP=975;ExcessHet=0;FS=1.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.107;SOR=0.606	GT:AD:DP:GQ:PL	0/1:86,96:182:99:2465,0,2544	18	0	1	0
chr9	35108139	35108139	C	T	exonic	FAM214B	.	nonsynonymous SNV	FAM214B:NM_001317991:exon3:c.G136A:p.G46R,FAM214B:NM_025182:exon3:c.G136A:p.G46R	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0025	0.00519169	0.0048	0.0011	0.0012	0.0024	0.0027	0.0037	0.0031	0.0203	0.0039456	610	154602	rs146693620	0.0049	0.0048	0.0047	0.0051	0.0141	0.0048	0.0048	0.0134	0.0131	0.0007	0.0011	0.0076	0.0009	0.0014	0.0031	0.0047	0.0053	0.0141	0.0031	0.0031	0.0030	0.0032	0.0166	0.0029	0.0028	0.0136	0.0126	0.0007	0	0.0010	0.0092	0.0027	0.0015	0	0.0041	0.0009	0.0166	0.502	0.07695	T	0.501	0.11153	T	0.002	0.09854	B	0.0	0.01387	B	0.000687	0.42383	N	0.164534	1	0.81001	D	1.265	0.31966	L	.	.	.	-0.04	0.07590	N	0.256	0.30118	-1.0248	0.22148	T	0.060	0.24981	T	9	0.0052247345	0.00114	T	.	.	.	0.161	0.41658	0.275	0.22687	0.0954503805726	0.09146	0.480183646659713	0.47938	0.268356325235	0.29355	0.544027090073	0.45014	T	0.00541	0.04862	T	-0.373788	0.03407	T	-0.298021	0.44933	T	0.0127203080802926	0.00215	T	0.737426	0.35417	T	0.040899627	0.05925	0.046489112	0.06491	0.040899627	0.05925	0.046489112	0.06491	-4.088	0.25113	T	.	.	0.182	0.39613	B	.;.;.;.;.;.	.;.;.;.;.;.	2.619987	0.34042	19.52	0.97989619282140672	0.37393	0.59574	0.30953	D	AEFDBI	0.125745	0.24238	N	-0.379321871649974	0.26207	1.428527	-0.205947526326525	0.31321	1.771526	0.999996658873397	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.72	3.83	0.43287	2.220000	0.42549	0.626000	0.20179	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.998000	0.85391	0.0:0.7337:0.0:0.2663	5.901	0.18210	167	0.93508	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.005848	0.000000	0.000000	0.003049	0.015152	0.02632	1065.33	43	chr9	35108139	.	C	T	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.01;DP=765;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.756;SOR=0.56	GT:AD:DP:GQ:PL	0/1:29,37:66:99:1079,0,634	18	0	1	0
chr9	35231126	35231126	T	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon3:c.T59A:p.F20Y,UNC13B:NM_001371186:exon3:c.T59A:p.F20Y,UNC13B:NM_001371189:exon3:c.T59A:p.F20Y,UNC13B:NM_006377:exon3:c.T59A:p.F20Y	.	437	1063	22	0	0	22	0.0102421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0003	0.00599042	0.0028	0.0004	0.0007	0	0	0.0003	0.0045	0.0182	0.002445	378	154602	rs200386049	0.0014	0.0014	0.0008	0.0020	0.0184	0.0013	0.0013	0.0176	0.0173	0.0002	0.0003	0	5.046e-05	0	0.0047	0.0003	0.0014	0.0184	0.0008	0.0008	0.0005	0.0010	0.0188	0.0006	0.0006	0.0157	0.0146	4.811e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0188	0.014	0.53172	D	0.046	0.49663	D	0.026	0.19406	B	0.037	0.23121	B	0.343065	0.13933	N	0.680432	0.995163	0.42571	D	2.425	0.70256	M	-0.37	0.68892	T	-0.47	0.19297	N	0.571	0.61002	-0.6102	0.64395	T	0.293	0.66479	T	10	0.009840339	0.00221	T	.	.	.	0.250	0.55888	.	.	0.663706574254	0.66088	0.4648180090317605	0.46400	0.691813054051	0.60620	0.907974481583	0.97275	D	0.066679	0.53553	T	-0.288453	0.09792	T	-0.172839	0.57184	T	0.049968445592362	0.05495	T	0.90021	0.67324	D	0.19837342	0.41737	0.11183741	0.26979	0.19837342	0.41737	0.11183741	0.26978	-8.127	0.61932	D	.	.	0.438	0.73872	A	.;.;.;.	.;.;.;.	4.342083	0.66620	25.0	0.98336877416457413	0.40398	0.97211	0.73346	D	AEI	0.761112	0.69893	D	0.123866449491003	0.47579	2.981561	0.260890632338725	0.53270	3.496866	0.43383708487938	0.20395	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	4.99	4.99	0.65942	6.221000	0.72188	7.681000	0.65292	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.720	0.62202	253	0.90069	.;C2 domain|C2 domain;C2 domain|C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.015152	0.02632	872.33	33	chr9	35231126	.	T	A	872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.529;DP=706;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.02;SOR=0.807	GT:AD:DP:GQ:PL	0/1:41,37:78:99:886,0,986	18	0	1	0
chr9	35303340	35303340	G	C	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371189:exon9:c.G3936C:p.M1312I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	.	.	.	.	.	.	.	.	0.0017289	45	26028	rs375228538	0.0005	0.0002	0.0004	0.0007	0.0218	0.0005	0.0004	0.0176	0.0160	0.0006	0.0001	0	0	0	0.0039	0.0003	0.0008	0.0218	0.0007	0.0007	0.0005	0.0010	0.0178	0.0006	0.0006	0.0148	0.0137	2.406e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054219365	0.00119	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346065	0.07604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44475	B	.	.	-0.397582	0.02222	0.224	0.59169339315050773	0.06161	0.03261	0.08294	N	AEFGI	.	.	.	.	.	.	.	.	.	8.26615455917231E-4	0.07872	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0505976	0.09843	5.28	-2.36	0.06282	0.085000	0.14759	1.128000	0.24302	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3009:0.1227:0.3838:0.1926	1.862	0.02997	137	0.94565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	45.91	1	chr9	35303340	.	G	C	45.91	.	AC=2;AF=0.2;AN=10;DP=7;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=60;QD=22.96;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	14
chr9	35307782	35307782	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371189:exon9:c.C8378T:p.S2793L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	.	.	.	.	.	.	.	.	0.0017289	45	26028	rs370617443	0.0005	0.0003	0.0004	0.0007	0.0218	0.0005	0.0004	0.0176	0.0161	0.0006	0.0001	0	0	0	0.0039	0.0003	0.0008	0.0218	0.0007	0.0007	0.0005	0.0010	0.0178	0.0006	0.0006	0.0148	0.0137	2.406e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037794113	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49985	0.15613	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.12891	B	.	.	2.017277	0.25634	16.83	0.59652120053673952	0.06274	0.10120	0.15713	N	AEFI	.	.	.	.	.	.	.	.	.	0.0561144144787722	0.15043	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0528747	0.11480	6.17	4.26	0.49832	1.044000	0.29939	1.408000	0.26256	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.594000	0.31239	0.1341:0.6789:0.1162:0.0708	7.119	0.24611	137	0.94565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	42.27	.	chr9	35307782	.	C	T	42.27	.	AC=2;AF=0.125;AN=16;DP=10;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.188;MQ=60;QD=21.14;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	7	1	0	11
chr9	35403557	35403557	A	G	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371188:exon29:c.A3338G:p.K1113R,UNC13B:NM_001371187:exon32:c.A5645G:p.K1882R,UNC13B:NM_001371186:exon38:c.A4445G:p.K1482R,UNC13B:NM_006377:exon38:c.A4448G:p.K1483R,UNC13B:NM_001330653:exon39:c.A4505G:p.K1502R,UNC13B:NM_001371189:exon39:c.A12695G:p.K4232R	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	.	0.0003	0.00499201	0.0022	0.0004	0.0006	0	0	0.0003	0.0033	0.0145	0.0020116	311	154602	rs201643678	0.0012	0.0012	0.0007	0.0017	0.0154	0.0011	0.0011	0.0147	0.0145	0.0001	0.0002	0	5.042e-05	0	0.0030	0.0002	0.0011	0.0154	0.0006	0.0006	0.0004	0.0009	0.0156	0.0005	0.0005	0.0127	0.0117	2.418e-05	0	0.0001	0	0	0	0	0.0003	0.0010	0.0156	0.047	0.40832	D	0.033	0.54159	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	-1.11	0.77466	T	-2.66	0.57275	D	0.617	0.77695	0.410	0.89248	D	0.652	0.87889	D	10	0.010234177	0.00229	T	.	.	.	0.702	0.89284	.	.	0.843920261538	0.84243	0.503459283857183	0.50267	0.26241307256	0.28800	0.667311906815	0.62455	T	0.352304	0.90870	T	-0.137454	0.30297	T	0.0421037	0.73065	D	0.0556795648795649	0.06471	T	0.975302	0.91244	D	0.49261054	0.66658	0.41928658	0.65927	0.49261054	0.66659	0.41928658	0.65927	-8.477	0.64575	D	.	.	0.185	0.45871	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.499159	0.70358	25.5	0.99900595394971725	0.97275	0.99472	0.96450	D	AEFDBI	0.903364	0.85236	D	0.892820690064518	0.91404	10.86633	0.860101151360956	0.93591	12.14618	0.999999999820964	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	9.224000	0.94368	9.421000	0.80755	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.858	0.78780	142	0.94345	.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.02632	1428.33	35	chr9	35403557	.	A	G	1428.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.676;DP=759;ExcessHet=0;FS=10.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.989;SOR=1.338	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1442,0,1623	18	0	1	0
chr9	41922885	41922885	T	A	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon17:c.A2547T:p.E849D	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs577420243	0.0001	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0005	0	0.0002	0.0004	0	0	0.0016	0.0001	0.0003	0.0003	0.0001	0.0002	0.0002	0.0001	0.0006	9.767e-05	8.277e-05	0.0002	9.022e-05	4.842e-05	0	6.562e-05	0.0006	0	0	0	0.0002	0.0005	0.0006	.	.	.	0.175	0.29945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.29544	.	.	.	.	.	.	.	0.1888164	0.34453	T	.	.	.	.	.	.	.	.	.	0.2688253277306522	0.26795	.	.	.	.	.	0.181299	0.53293	T	.	.	.	.	.	.	.	.	.	0.630737	0.24588	T	.	.	.	.	.	.	.	.	-7.596	0.58283	D	.	.	0.215	0.44475	B	.;.	.;.	1.580829	0.20228	14.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.749000	0.37946	-7.660000	0.01111	0.312000	0.19173	0.997000	0.40164	0.000000	0.08366	0.974000	0.55675	.	.	.	994	0.00715	Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	372.33	47	chr9	41922885	.	T	A	372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.152;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.06;MQRankSum=-0.474;QD=4.6;ReadPosRankSum=-0.269;SOR=0.679	GT:AD:DP:GQ:PL	0/1:60,21:81:99:386,0,1473	18	0	1	0
chr9	66917837	66917837	C	T	exonic	ZNF658	.	nonsynonymous SNV	ZNF658:NM_001317916:exon5:c.C271T:p.R91W,ZNF658:NM_033160:exon5:c.C271T:p.R91W	.	813	706	3	0	0	3	0.00212014	.	.	.	2356895	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs748752930	0.0012	0.0014	0.0010	0.0015	0.0093	0.0012	0.0012	0.0069	0.0063	0.0008	0.0011	0	0.0002	1.944e-05	0.0093	0.0009	0.0013	0.0070	0.0010	0.0011	0.0009	0.0010	0.0075	0.0008	0.0008	0.0054	0.0047	0.0002	0	0.0014	0	0.0007	0	0.0115	0.0011	0	0.0075	.	.	.	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04426	.	.	.	.	.	.	.	0.014209479	0.00299	T	.	.	.	.	.	.	.	.	.	0.05172900432969586	0.05114	.	.	.	.	.	0.001599	0.01039	T	.	.	.	.	.	.	.	.	.	0.272073	0.04599	T	.	.	.	.	.	.	.	.	-4.287	0.27994	T	.	.	0.159	0.35056	B	.;.;.;.;.	.;.;.;.;.	0.936330	0.13117	9.620	.	.	.	.	.	.	0.047226	0.07929	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.598000	0.00468	-8.726000	0.00923	-1.891000	0.00533	0.000000	0.06391	0.000000	0.08366	0.406000	0.26916	.	.	.	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	166.33	17	chr9	66917837	.	C	T	166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=559;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=36.12;MQRankSum=0.418;QD=10.4;ReadPosRankSum=0.515;SOR=0.446	GT:AD:DP:GQ:PL	0/1:9,7:16:99:180,0,241	18	0	1	0
chr9	69234470	69234470	G	A	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon12:c.G1715A:p.R572Q,TJP2:NM_001170416:exon12:c.G1796A:p.R599Q,TJP2:NM_001369872:exon12:c.G1703A:p.R568Q,TJP2:NM_001369873:exon12:c.G1703A:p.R568Q,TJP2:NM_001369874:exon12:c.G1715A:p.R572Q,TJP2:NM_001369875:exon12:c.G1715A:p.R572Q,TJP2:NM_004817:exon12:c.G1703A:p.R568Q,TJP2:NM_201629:exon12:c.G1703A:p.R568Q,TJP2:NM_001170414:exon13:c.G1634A:p.R545Q,TJP2:NM_001369870:exon13:c.G1628A:p.R543Q,TJP2:NM_001369871:exon14:c.G1634A:p.R545Q	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0665261090577	.	.	8.24e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs769333755	1.096e-05	1.094e-05	2.726e-06	1.928e-05	0.0003	6.49e-06	5.25e-06	6.098e-05	3.288e-05	5.993e-05	0	0	0	0	0.0003	2.7e-06	1.658e-05	9.324e-05	6.712e-06	6.607e-06	0	1.38e-05	2.491e-05	0	0	.	.	2.491e-05	0	0	0	0	0	0	0	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.36	0.34107	L	0.7	0.51474	T	-3.4	0.67824	D	0.89	0.89800	-0.5527	0.66684	T	0.283	0.65508	T	10	0.80096185	0.79499	D	0.066526	0.69900	D	0.526	0.79947	0.647	0.78436	0.784773488873	0.78278	0.49222389619856927	0.49143	0.788710189345	0.65656	0.776885032654	0.78459	T	0.325571	0.69628	T	0.175917	0.71666	D	0.197063	0.82967	D	0.857737004756927	0.50846	D	0.978002	0.92190	D	0.7549819	0.81158	0.6852334	0.81493	0.7549819	0.81160	0.6852334	0.81494	-13.196	0.90153	D	0.6698388790357839	0.74462	0.975	0.91553	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.964192	0.82109	27.7	0.9996083044988231	0.99997	0.99638	0.98230	D	AEFBI	0.898729	0.84232	D	0.801280965968086	0.86185	8.805334	0.781883680253687	0.88507	9.607841	0.999999999997794	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	9.803000	0.98248	11.765000	0.95720	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.573000	0.30723	0.0:0.0:1.0:0.0	19.655	0.95833	988	0.01987	.;.;.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	349.33	36	chr9	69234470	.	G	A	349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=768;ExcessHet=0;FS=1.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.553;SOR=1.022	GT:AD:DP:GQ:PL	0/1:15,13:28:99:363,0,341	18	0	1	0
chr9	74642567	74642567	T	C	exonic	RORB	.	nonsynonymous SNV	RORB:NM_001365023:exon4:c.T422C:p.L141P,RORB:NM_006914:exon4:c.T389C:p.L130P	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.207348050639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.064	0.44905	T	0.997	0.70673	D	0.929	0.66367	D	0.001150	0.40056	N	0.237415	1	0.81001	D	2.41	0.69639	M	-3.44	0.94469	D	-2.48	0.54059	N	0.864	0.86085	0.857	0.95110	D	0.882	0.96075	D	10	0.77409935	0.77317	D	0.207348	0.87088	D	0.712	0.89741	0.423	0.46693	0.530804112256	0.52728	0.776937128039195	0.77643	0.356500671302	0.37390	0.660247206688	0.61445	T	0.23511	0.60229	T	0.433242	0.91694	D	0.384546	0.91591	D	0.957637310028076	0.65061	D	0.915608	0.69895	D	0.5355556	0.69147	0.55278313	0.74139	0.5355556	0.69148	0.55278313	0.74139	-4.617	0.32646	T	.	.	0.236	0.46994	B	.;.	.;.	3.979015	0.58476	24.0	0.99777231393710897	0.86433	0.99670	0.98521	D	AEFBI	0.964066	0.98612	D	0.556618470049871	0.70485	5.508557	0.59939263151389	0.74895	6.215781	0.999998107639435	0.74766	0.538911	0.22237	0	0.563428	0.19063	0	0.607057	0.38367	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	7.479000	0.80115	5.091000	0.47354	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.87	0.78889	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2717.33	33	chr9	74642567	.	T	C	2717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.028;DP=908;ExcessHet=0;FS=2.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.809;SOR=0.869	GT:AD:DP:GQ:PL	0/1:131,113:244:99:2731,0,3713	18	0	1	0
chr9	76358758	76358758	G	T	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon37:c.G5419T:p.V1807L,PCSK5:NM_001372043:exon38:c.G5500T:p.V1834L	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0256747591054	.	.	4.344e-05	0	0	0	0	4.769e-05	0	0.0001	3.23e-05	5	154602	rs763069943	2.396e-05	2.394e-05	1.771e-05	3.028e-05	0.0003	1.74e-05	1.54e-05	6.092e-05	4.042e-05	0	0	0	0	0	0.0003	1.799e-05	6.627e-05	0.0001	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	0.235	0.20456	T	0.27	0.22359	T	.	.	.	.	.	.	0.307230	0.14496	N	0.674056	0.999844	0.49770	D	1.825	0.47900	L	0.85	0.47130	T	-1.05	0.28497	N	0.462	0.49874	-0.9066	0.47262	T	0.202	0.55863	T	8	0.1621905	0.30403	T	0.025675	0.48637	D	0.057	0.16321	0.223	0.14665	0.64127314462	0.63831	0.43384209134861473	0.43301	0.0839454979105	0.09469	0.390689402819	0.23767	T	0.067286	0.33163	T	-0.294223	0.09216	T	-0.400728	0.33299	T	0.126358613371849	0.15042	T	0.706729	0.32527	T	0.17460158	0.38273	0.15650234	0.36637	0.17460158	0.38272	0.15650234	0.36637	-4.267	0.27712	T	.	.	0.231	0.59466	B	.;.	.;.	1.881234	0.23898	16.19	0.98834781806462346	0.47018	0.95042	0.63226	D	AEFBCI	0.653491	0.62650	D	0.208524651563578	0.51610	3.341026	0.252787008110866	0.52807	3.453187	0.999999444616475	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	3.95	0.44952	2.062000	0.41039	5.083000	0.47284	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1235:0.0:0.8765:0.0	12.386	0.54665	956	0.09877	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2241.33	33	chr9	76358758	.	G	T	2241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.771;DP=841;ExcessHet=0;FS=6.027;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-1.351;SOR=0.935	GT:AD:DP:GQ:PL	0/1:102,90:192:99:2255,0,2520	18	0	1	0
chr9	87923071	87923071	G	T	exonic	SPATA31C1	.	nonsynonymous SNV	SPATA31C1:NM_001145124:exon4:c.G3164T:p.S1055I	.	426	1045	48	3	0	54	0.0251866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00399361	0.0043	0.0003	0.0040	0	0.0006	0.0034	0.0067	0.0139	0.0035705	552	154602	rs376807700	0.0027	0.0027	0.0022	0.0032	0.0231	0.0026	0.0026	0.0199	0.0187	0.0002	0.0032	0.0112	0	0.0004	0.0231	0.0017	0.0043	0.0139	0.0022	0.0022	0.0020	0.0025	0.0143	0.0020	0.0019	0.0116	0.0106	0.0003	0	0.0037	0.0107	0	0.0002	0.0170	0.0022	0.0038	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018765	0.016949	0.012329	0.017699	0.100000	0.017544	0.023077	0.037190	0.05263	7131.83	45	chr9	87923071	.	G	T	7131.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.081;DP=1430;ExcessHet=0.119;FS=10.931;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=46.09;MQRankSum=-2.99;QD=15.01;ReadPosRankSum=-0.983;SOR=0.286	GT:AD:DP:GQ:PL	0/1:93,129:222:99:3561,0,2480	17	0	2	0
chr9	104889159	104889159	T	C	exonic	ABCA1	.	nonsynonymous SNV	ABCA1:NM_005502:exon3:c.A103G:p.I35V	HDL deficiency, type 2;Tangier disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1493318	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.419	0.0336809202684	0.0002	0.000199681	4.122e-05	0	8.654e-05	0	0	4.499e-05	0	6.061e-05	3.23e-05	5	154602	rs138992952	7.661e-05	7.661e-05	7.759e-05	7.563e-05	0.0010	6.49e-05	6.07e-05	0.0005	0.0003	2.987e-05	0.0002	0	0	0	0.0010	6.475e-05	0.0002	0.0002	9.195e-05	9.187e-05	8.996e-05	9.402e-05	0.0002	5.525e-05	4.363e-05	9.049e-05	7.013e-05	2.406e-05	0	0.0001	0	0	0	0	0.0002	0	0	0.005	0.63226	D	0.066	0.45530	T	0.075	0.24198	B	0.066	0.27432	B	0.000000	0.84330	D	0.000000	0.999911	0.81001	D	1.615	0.41426	L	-2.43	0.88689	D	-0.78	0.26200	N	0.384	0.50868	0.081	0.83829	D	0.618	0.86535	D	10	0.16444382	0.30765	T	0.033681	0.55150	D	0.419	0.72855	.	.	0.884989273205	0.88386	0.4979435163394563	0.49715	0.150839345589	0.17018	0.676338374615	0.63744	T	0.374914	0.73862	T	-0.0249905	0.48139	T	-0.0921457	0.63999	T	0.083638705222223	0.10446	T	0.89721	0.64041	D	0.3546307	0.57425	0.11865142	0.28640	0.3546307	0.57425	0.11865142	0.28640	-5.286	0.39804	T	.	.	0.108	0.50426	B	.;.	.;.	3.556560	0.50018	22.9	0.99718946314054246	0.81914	0.83062	0.42212	D	AEFBCI	0.649076	0.62367	D	0.150055546615347	0.48815	3.089141	0.314695326976777	0.56402	3.803533	0.999999998929065	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.01	6.01	0.97420	4.112000	0.57585	6.098000	0.53520	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1346:0.8653	12.976	0.57938	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	.	.	.	.	.	.	.	.	0.02632	816.33	35	chr9	104889159	.	T	C	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.329;DP=695;ExcessHet=0;FS=2.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.432;SOR=0.397	GT:AD:DP:GQ:PL	0/1:25,33:58:99:830,0,664	18	0	1	0
chr9	112838524	112838524	G	A	exonic	SNX30	.	nonsynonymous SNV	SNX30:NM_001012994:exon6:c.G841A:p.G281R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.085023843063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.475e-06	5.472e-06	6.809e-06	4.127e-06	1.16e-05	2.36e-06	1.7e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	3.313e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.009	0.66756	D	0.999	0.77913	D	0.944	0.68059	D	0.000000	0.84330	D	0.048277	1	0.81001	D	2.71	0.79292	M	1.58	0.29085	T	-3.65	0.69950	D	0.933	0.93841	-0.7129	0.59810	T	0.203	0.55975	T	10	0.8435956	0.83519	D	0.085024	0.74447	D	0.469	0.76355	0.56	0.67958	0.288221626996	0.28429	0.8948709038505548	0.89458	1.11683843189	0.78191	0.882458746433	0.94289	D	0.35722	0.72396	T	0.213251	0.75138	D	0.0685445	0.74814	D	0.978819310665131	0.72514	D	0.954105	0.82551	D	0.46696937	0.65104	0.33133188	0.58994	0.46696937	0.65104	0.33133188	0.58993	-11.549	0.82585	D	.	.	0.773	0.76072	P	.	.	5.254734	0.88230	29.5	0.99928233891755791	0.99222	0.99222	0.93031	D	AEFBI	0.917105	0.88424	D	0.748810461391622	0.82826	7.85994	0.688556645007477	0.81508	7.543461	0.999999999999996	0.74766	0.638212	0.43195	0	0.593476	0.48661	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	9.602000	0.97623	11.759000	0.95586	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.0:1.0:0.0	19.183	0.93617	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	.	.	.	.	.	.	.	.	0.02632	1121.33	34	chr9	112838524	.	G	A	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=1.51;SOR=0.618	GT:AD:DP:GQ:PL	0/1:32,42:74:99:1135,0,750	18	0	1	0
chr9	114329923	114329923	C	T	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.C19T:p.L7F	.	456	1055	10	1	0	12	0.00565504	.	.	.	2826335	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	.	0.0045	0.00419329	0.0106	0.0093	0.0128	0	0.0047	0.0137	0.0055	0.0028	0.0010373	27	26028	rs143336597	0.0030	0.0031	0.0031	0.0030	0.0100	0.0030	0.0029	0.0075	0.0067	0.0059	0.0049	0.0312	0	0.0019	0.0100	0.0024	0.0059	0.0014	0.0042	0.0043	0.0041	0.0043	0.0046	0.0038	0.0037	0.0039	0.0037	0.0046	0	0.0046	0.0292	0.0003	0.0027	0.0207	0.0030	0.0079	0.0011	0.103	0.30097	T	0.011	0.64786	D	1.0	0.90584	D	0.994	0.82059	D	0.007475	0.31378	N	0.203527	1	0.08975	N	2.14	0.59869	M	2.54	0.13916	T	-2.82	0.59545	D	0.33	0.37093	-0.9558	0.39952	T	0.166	0.50372	T	10	0.0045836866	0.00095	T	.	.	.	0.054	0.15330	.	.	0.31501682445	0.31101	0.3073696957865565	0.30649	1.63474285478	0.89300	.	.	.	0.090214	0.38538	T	-0.506014	0.00529	T	-0.498539	0.22499	T	0.0358126079362016	0.02948	T	0.660634	0.26999	T	0.100625806	0.23761	0.111952335	0.27009	0.100625806	0.23761	0.111952335	0.27008	-5.25	0.39445	T	.	.	0.13	0.27910	B	.	.	2.835497	0.37390	20.5	0.9739253131024681	0.33731	0.02043	0.06114	N	AEFDGBI	0.214987	0.34039	N	-0.153741131430986	0.35076	2.010137	-0.40007336570999	0.24996	1.371993	0.999993289566918	0.74766	0.497415	0.19182	0	0.550933	0.16991	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	2.77	1.87	0.24559	0.953000	0.28759	3.431000	0.38316	0.291000	0.18778	0.133000	0.23395	0.998000	0.33993	0.492000	0.28837	0.0:0.8448:0.0:0.1552	5.554	0.16392	620	0.66037	.	.	.	.	.	.	Likely benign	0	0	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	0.017610	0.010417	0.029086	0.008929	0.100000	0.008621	0.004000	0.004348	0.02632	419.33	41	chr9	114329923	.	C	T	419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.018;DP=548;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.4;MQRankSum=-1.048;QD=13.98;ReadPosRankSum=0.146;SOR=0.576	GT:AD:DP:GQ:PL	0/1:16,14:30:99:433,0,539	18	0	1	0
chr9	122662079	122662079	C	T	exonic	OR1L1	.	nonsynonymous SNV	OR1L1:NM_001005236:exon1:c.C364T:p.R122C	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0125142942316	0.0002	0.000199681	0.0001	0.0002	0	0.0012	0	4.496e-05	0	0	0.0001035	16	154602	rs146376238	6.362e-05	6.362e-05	6.262e-05	6.463e-05	0.0011	5.295e-05	4.911e-05	0.0009	0.0008	0.0006	6.708e-05	0.0002	0.0011	0	0.0003	1.079e-05	3.312e-05	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0008	0.0003	0	6.539e-05	0	0.0019	0	0	4.412e-05	0.0005	0	0.011	0.55530	D	0.016	0.60972	D	0.122	0.26746	B	0.028	0.21332	B	.	.	.	.	0.930852	0.36971	D	1.99	0.53851	M	-1.09	0.77206	T	-7.28	0.94430	D	0.192	0.29197	-0.4874	0.69100	T	0.316	0.68549	T	9	0.05673319	0.06407	T	0.012514	0.31146	T	0.153	0.40148	.	.	0.778254417172	0.77621	0.5281837991326066	0.52742	0.061800003408	0.06886	0.198114007711	0.00404	T	0.133651	0.46444	T	-0.345199	0.05036	T	-0.314183	0.43208	T	0.0944788619416709	0.11738	T	0.890711	0.62461	D	0.2666955	0.49740	0.23691316	0.48975	0.2666955	0.49740	0.23691316	0.48974	-7.534	0.57849	D	.	.	0.395	0.59274	A	.;.	.;.	2.475814	0.31918	18.89	0.89408643878937721	0.18771	0.32314	0.24555	N	AEFDGBI	0.430961	0.49345	N	-0.948149099151548	0.09734	0.4620033	-1.00711365403946	0.09628	0.4801046	0.986863056690834	0.31140	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.11	2.2	0.26966	1.479000	0.35061	-12.528000	0.00518	-1.038000	0.01672	0.812000	0.29879	0.000000	0.08366	0.007000	0.07825	0.0:0.8877:0.0:0.1123	9.536	0.38389	950	0.11238	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3750.33	33	chr9	122662079	.	C	T	3750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=876;ExcessHet=0;FS=4.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-1.855;SOR=0.943	GT:AD:DP:GQ:PL	0/1:122,136:258:99:3764,0,3022	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,28:248:99:0|1:122724732_T_C:457,0,9044:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,19:236:99:0|1:122724732_T_C:145,0,9043:122724732	4	0	12	3
chr9	122750628	122750628	T	C	exonic	OR1L6	.	nonsynonymous SNV	OR1L6:NM_001004453:exon2:c.T781C:p.F261L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00340339148663	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435327330	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.06441	T	0.903	0.03021	T	0.983	0.60381	D	0.785	0.57495	P	0.001427	0.39044	N	0.114286	1	0.08975	N	-0.555	0.02337	N	1.25	0.36512	T	-2.09	0.47683	N	0.032	0.00942	-1.0210	0.23389	T	0.056	0.23677	T	10	0.106484085	0.19735	T	0.003403	0.07633	T	0.089	0.25827	0.321	0.30064	0.516326692288	0.51274	0.039967177565618774	0.03942	0.995633623574	0.74220	0.286054044962	0.08350	T	0.011628	0.10346	T	-0.269387	0.11826	T	-0.624732	0.10818	T	0.638209283351898	0.37961	D	0.565643	0.22516	T	0.16823901	0.37270	0.08717454	0.20246	0.16823901	0.37269	0.08717454	0.20245	-3.437	0.15559	T	.	.	0.569	0.71775	P	.;.	.;.	2.610055	0.33897	19.47	0.98196368321359784	0.39079	0.06255	0.12245	N	AEBI	0.142102	0.26445	N	-0.489547195260216	0.22423	1.197189	-0.539116159264432	0.21094	1.139554	0.162065771155074	0.17608	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.46	3.28	0.36691	-1.732000	0.01951	-0.567000	0.08447	0.634000	0.51959	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1587:0.0:0.3052:0.5361	5.541	0.16327	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2528.33	183	chr9	122750628	.	T	C	2528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.415;DP=1312;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.37;MQRankSum=-1.055;QD=14.12;ReadPosRankSum=0.752;SOR=0.555	GT:AD:DP:GQ:PL	0/1:91,88:179:99:2542,0,2620	18	0	1	0
chr9	128332174	128332174	G	A	exonic	COQ4	.	nonsynonymous SNV	COQ4:NM_016035:exon5:c.G424A:p.A142T	Coenzyme Q10 deficiency, primary, 7, Autosomal recessive	420	1061	38	3	0	44	0.0203139	.	.	.	370324	not_provided|Neonatal_encephalomyopathy-cardiomyopathy-respiratory_distress_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0014562,MedGen:C5568562,OMIM:616276,Orphanet:457185|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0025	0.0091853	0.0172	0.0019	0.0035	0.0006	0.0017	0.0106	0.0076	0.0416	0.0060543	936	154602	rs34043652	0.0057	0.0057	0.0048	0.0066	0.0331	0.0056	0.0055	0.0321	0.0317	0.0012	0.0016	0.0021	5.274e-05	0.0004	0.0148	0.0044	0.0055	0.0331	0.0037	0.0037	0.0033	0.0042	0.0334	0.0035	0.0033	0.0292	0.0276	0.0008	0	0.0024	0.0035	0	0.0003	0.0136	0.0045	0.0033	0.0334	0.449	0.09022	T	0.511	0.10785	T	0.982	0.60036	D	0.767	0.56720	P	0.000670	0.42516	D	0.267657	0.999905	0.19694	N	2.26	0.64354	M	0.88	0.46028	T	-1.28	0.32185	N	0.233	0.26233	-0.8356	0.52937	T	0.143	0.46459	T	10	0.007909	0.00179	T	.	.	.	0.163	0.42028	.	.	0.589665606642	0.58642	0.4398756359911274	0.43904	0.611868390324	0.55801	0.373806595802	0.21377	T	0.165191	0.51094	T	-0.558499	0.00259	T	-0.550647	0.17265	T	0.0325917881327479	0.02404	T	0.909609	0.68017	D	0.05415084	0.10350	0.077319644	0.17210	0.050297037	0.09065	0.06649144	0.13626	-4.972	0.36534	T	0.20917695901469	0.27996	0.101	0.17700	B	.	.	3.856571	0.55900	23.7	0.99394376498206649	0.62474	0.66322	0.33038	D	AEFDBCI	0.410087	0.48110	N	0.502736449469989	0.67250	5.056811	0.524640981072112	0.69652	5.391109	0.999945172294767	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	4.850000	0.62587	6.780000	0.56581	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.1447:0.1546:0.7007:0.0	6.675	0.22281	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	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	0.013198	0.010526	0.009511	0.005848	0.000000	0.017241	0.009317	0.038168	0.07895	2752.77	34	chr9	128332174	.	G	A	2752.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.328;DP=692;ExcessHet=0;FS=2.045;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=23.73;ReadPosRankSum=-0.718;SOR=0.679	GT:AD:DP:GQ:PL	0/1:20,21:41:99:577,0,597	17	1	1	0
chr9	128585940	128585940	A	G	exonic	SPTAN1	.	nonsynonymous SNV	SPTAN1:NM_001130438:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001195532:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001363759:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001363765:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375310:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375311:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375313:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375314:exon19:c.A2753G:p.Y918C,SPTAN1:NM_003127:exon19:c.A2753G:p.Y918C,SPTAN1:NM_001375312:exon20:c.A2789G:p.Y930C,SPTAN1:NM_001375318:exon20:c.A2789G:p.Y930C	Epileptic encephalopathy, early infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	202369	not_provided|Developmental_and_epileptic_encephalopathy,_5|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy	MedGen:C3661900|MONDO:MONDO:0013277,MedGen:C3150731,OMIM:613477,Orphanet:3451|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100620,MedGen:C5779964	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.420	0.102861262995	0.0005	0.000399361	9.075e-05	0.0010	0	0	0	1.5e-05	0	0	8.41e-05	13	154602	rs138275607	4.245e-05	4.241e-05	4.36e-05	4.129e-05	0.0016	3.379e-05	3.067e-05	0.0013	0.0011	0.0016	6.708e-05	0	0	0	0	2.698e-06	3.318e-05	0	0.0003	0.0003	0.0004	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0011	0	0	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	0.594	0.90584	P	0.439	0.79672	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	1.46	0.32238	T	-7.94	0.96294	D	0.833	0.82862	-0.7159	0.59663	T	0.201	0.55737	T	10	0.3477112	0.51699	T	0.102861	0.77656	D	0.420	0.72930	.	.	0.600624724822	0.59744	0.5353938996465609	0.53464	2.06320298335	0.94431	0.934234261513	0.99209	D	0.452235	0.79264	T	-0.138679	0.30101	T	-0.0574847	0.66508	T	0.685751080513	0.40051	D	0.985426	0.95244	D	0.8331909	0.86125	0.81634027	0.89305	0.8331909	0.86127	0.81634027	0.89305	-10.899	0.79101	D	0.6723100865527274	0.74746	0.374	0.70263	A	.;.;.;.;.	.;.;.;.;.	4.858884	0.79490	27.1	0.99810015243983174	0.89353	0.99348	0.94841	D	AEFDGBI	0.932119	0.92198	D	0.780901472289614	0.84896	8.417902	0.784442649487226	0.88691	9.678241	0.999999999999604	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	8.867000	0.91934	11.298000	0.92236	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.383	0.74395	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	831.33	33	chr9	128585940	.	A	G	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=724;ExcessHet=0;FS=3.959;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.553;SOR=0.384	GT:AD:DP:GQ:PL	0/1:62,36:98:99:845,0,1570	18	0	1	0
chr9	129102417	129102417	C	T	exonic	CRAT	.	nonsynonymous SNV	CRAT:NM_000755:exon5:c.G613A:p.V205M,CRAT:NM_001346547:exon5:c.G613A:p.V205M,CRAT:NM_001346549:exon5:c.G493A:p.V165M,CRAT:NM_001257363:exon6:c.G550A:p.V184M,CRAT:NM_001346546:exon6:c.G616A:p.V206M,CRAT:NM_001346548:exon6:c.G550A:p.V184M,CRAT:NM_004003:exon6:c.G550A:p.V184M	.	.	.	.	.	.	.	.	.	.	.	1419165	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.483	0.116343415268	0.0004	0.000399361	7.419e-05	0.0004	0	0.0002	0	3.001e-05	0	6.056e-05	7.76e-05	12	154602	rs199855222	2.257e-05	2.257e-05	3.131e-05	1.375e-05	0.0005	1.61e-05	1.416e-05	0.0003	0.0002	0.0005	2.236e-05	0	7.557e-05	0	0	7.194e-06	3.312e-05	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.234e-05	0.0004	0.0003	0.0005	0	6.534e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.038	0.51421	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.29	0.98219	H	-0.08	0.63911	T	-2.69	0.57435	D	0.707	0.71055	0.237	0.86534	D	0.518	0.81985	D	10	0.6180143	0.67816	D	0.116343	0.79580	D	0.483	0.77271	.	.	0.642270024921	0.63931	0.8558972513373259	0.85552	0.93781020124	0.72099	0.633464157581	0.57637	T	0.915296	0.98438	D	0.0683104	0.60643	T	0.190348	0.82590	D	0.531422838803316	0.33786	D	0.978202	0.92336	D	0.94823205	0.96086	0.85623115	0.91923	0.94823205	0.96087	0.85623115	0.91923	-9.894	0.73274	D	0.7561618371141728	0.83812	0.747	0.74939	P	.	.	4.667024	0.74550	26.2	0.99874439295066797	0.95160	0.95288	0.64140	D	AEFDGBHCI	0.726823	0.67536	D	0.793581676175585	0.85702	8.655678	0.716933738423645	0.83665	8.08163	1.0	0.98316	0.706548	0.73137	0	0.53679	0.11191	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	4.085000	0.57380	5.910000	0.51009	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.558	0.87794	822	0.40702	Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1127.33	34	chr9	129102417	.	C	T	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.502;DP=752;ExcessHet=0;FS=6.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.208;SOR=0.314	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1141,0,1564	18	0	1	0
chr9	132264633	132264633	A	G	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon26:c.T7640C:p.I2547T,SETX:NM_015046:exon26:c.T7640C:p.I2547T,SETX:NM_001351528:exon27:c.T7727C:p.I2576T	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1502	17	3	0	23	0.00759828	.	.	.	165502	Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|not_provided|not_specified|Amyotrophic_lateral_sclerosis|Hereditary_spastic_paraplegia	MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.112	0.0633152070572	0.0054	0.00259585	0.0034	0.0006	0.0055	0	0.0005	0.0048	0.0055	0.0011	0.0036804	569	154602	rs151117904	0.0052	0.0052	0.0052	0.0051	0.0107	0.0051	0.0050	0.0086	0.0078	0.0012	0.0069	0.0007	0	0.0003	0.0107	0.0060	0.0054	0.0012	0.0043	0.0043	0.0044	0.0042	0.0122	0.0040	0.0039	0.0107	0.0102	0.0015	0	0.0122	0.0006	0	0.0004	0.0034	0.0055	0.0095	0.0006	0.315	0.14595	T	0.475	0.12072	T	0.0	0.02946	B	0.0	0.01387	B	0.000502	0.00624	N	3.286410	1	0.08975	N	0	0.06538	N	-2.72	0.90622	D	0.42	0.03352	N	0.044	0.01658	-0.5751	0.65811	T	0.318	0.68735	T	10	0.0033735633	0.00059	T	0.063315	0.68928	D	0.112	0.31546	.	.	0.425028116352	0.42120	0.12267033688604907	0.12193	0.093049406823	0.10513	0.266960442066	0.05747	T	0.092795	0.39078	T	-0.533684	0.00365	T	-0.533686	0.18921	T	0.000574663953003263	0.00005	T	0.322168	0.06550	T	0.016643604	0.00212	0.03200239	0.01869	0.021115314	0.00697	0.032754432	0.02061	-2.87	0.08847	T	.	.	0.120	0.24833	B	.;.	.;.	-0.108979	0.03587	0.700	0.38995283768389621	0.02664	0.01355	0.04643	N	AEFGBI	0.021710	0.00998	N	-1.43950795165835	0.02300	0.1014283	-1.44411367920124	0.02824	0.1306009	0.999370126307587	0.39355	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	-3.37	0.04591	0.238000	0.17782	0.985000	0.23152	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.455:0.2372:0.3079:0.0	6.013	0.18811	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.017663	0.035088	0.000000	0.017241	0.006098	0.000000	0.02632	1940.33	41	chr9	132264633	.	A	G	1940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.19;DP=878;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-1.683;SOR=0.796	GT:AD:DP:GQ:PL	0/1:73,70:143:99:1954,0,1931	18	0	1	0
chr9	132582951	132582951	G	A	exonic	BARHL1	.	nonsynonymous SNV	BARHL1:NM_020064:exon1:c.G154A:p.A52T	.	422	1097	3	0	0	3	0.0013655	.	.	.	3642782	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.0491059368425	7.7e-05	.	7.521e-05	0	8.67e-05	0	0.0003	3.052e-05	0	0.0002	5.82e-05	9	154602	rs373735108	6.637e-05	6.704e-05	6.127e-05	7.152e-05	0.0040	5.563e-05	5.153e-05	0.0027	0.0023	0	0.0001	0	0	0.0003	0.0040	1.709e-05	0.0002	0.0003	3.941e-05	3.94e-05	1.284e-05	6.722e-05	0.0002	1.715e-05	1.129e-05	.	.	0	0	6.539e-05	0	0	0.0003	0	1.47e-05	0	0.0002	0.104	0.29959	T	0.233	0.24913	T	0.281	0.32101	B	0.051	0.25434	B	0.000007	0.62929	D	0.064020	0.599698	0.30951	N	0	0.06538	N	-2.74	0.90735	D	-0.5	0.15782	N	0.099	0.18376	-0.1523	0.78860	T	0.425	0.76863	T	10	0.08294466	0.13746	T	0.049106	0.63667	D	0.309	0.63055	.	.	0.950444208553	0.94992	0.29618074405615297	0.29531	0.832219940046	0.67670	0.595451235771	0.52262	T	0.118866	0.43999	T	-0.217516	0.18335	T	-0.249899	0.49827	T	0.0449748529678096	0.04597	T	0.862114	0.55677	D	0.09553367	0.22484	0.18083125	0.40908	0.09553367	0.22484	0.18083125	0.40907	-5.268	0.39625	T	.	.	0.074	0.04975	B	.;.	.;.	4.687716	0.75076	26.3	0.99710052362281276	0.81283	0.05229	0.11059	N	AEFDBHCI	0.697989	0.65581	D	-0.0927991510003082	0.37706	2.197699	0.067112463911143	0.42906	2.603604	0.999999736312751	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	3.8	3.8	0.42887	4.868000	0.62716	11.698000	0.94457	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.3288:0.6712:0.0	10.312	0.42894	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	0.002518	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	1782.33	34	chr9	132582951	.	G	A	1782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.271;DP=785;ExcessHet=0;FS=4.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.087;SOR=0.431	GT:AD:DP:GQ:PL	0/1:87,66:153:99:1796,0,2702	18	0	1	0
chr9	133256204	133256204	C	T	exonic	ABO	.	unknown	UNKNOWN	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00179712	0.0013	0.0001	0.0002	0	0	0.0013	0.0050	0.0038	0.0010673	165	154602	rs56039827	0.0008	0.0008	0.0007	0.0009	0.0055	0.0008	0.0007	0.0040	0.0035	0.0001	0.0004	0.0130	0	0	0.0055	0.0004	0.0012	0.0034	0.0006	0.0006	0.0008	0.0004	0.0043	0.0005	0.0005	0.0029	0.0024	2.408e-05	0	0.0003	0.0089	0	0	0.0068	0.0004	0.0024	0.0043	.	.	.	0.2	0.27591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.05037	.	.	.	.	.	.	.	0.003694743	0.00068	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.4500629653008766	0.44924	.	.	0.42605227232	0.28669	T	0.029195	0.20974	T	-0.310769	0.07680	T	-0.220964	0.52645	T	.	.	.	0.623938	0.24053	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17103	B	.;.	.;.	1.103839	0.14884	11.41	0.65845248864764483	0.07888	0.01433	0.04820	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.682566692743751	0.22497	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.058706	0.01089	0	0.0650626	0.15553	4.69	-1.05	0.09523	-1.307000	0.02841	-6.152000	0.01481	0.555000	0.28237	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2167:0.5425:0.2408	6.120	0.19369	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.000000	0.014620	0.050000	0.008621	0.006135	0.003788	0.02632	2412.33	38	chr9	133256204	.	C	T	2412.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.22;DP=2139;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=1.31;SOR=0.714	GT:AD:DP:GQ:PL	0/1:134,97:231:99:2426,0,3486	18	0	1	0
chr9	136362125	136362125	C	T	exonic	DNLZ	.	nonsynonymous SNV	DNLZ:NM_001080849:exon3:c.G424A:p.E142K	.	398	1112	11	1	0	13	0.00581135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0089	0.00219649	0.0070	0.0011	0.0026	0.0004	0.0041	0.0111	0.0049	0.0020	0.0067787	1048	154602	rs147703592	0.0090	0.0088	0.0091	0.0090	0.0104	0.0089	0.0088	0.0102	0.0102	0.0014	0.0039	0.0115	6.223e-05	0.0034	0.0066	0.0104	0.0080	0.0015	0.0079	0.0079	0.0084	0.0073	0.0132	0.0075	0.0073	0.0124	0.0122	0.0017	0.0220	0.0060	0.0164	0.0002	0.0037	0.0034	0.0132	0.0062	0.0014	0.069	0.35537	T	0.014	0.62352	D	0.138	0.27452	B	0.016	0.17743	B	0.083002	0.20777	U	0.511140	0.999999	0.08975	N	1.935	0.51832	L	1.36	0.34452	T	-2.59	0.55821	D	0.151	0.15469	-0.9419	0.42314	T	0.098	0.36625	T	10	0.00526312	0.00115	T	.	.	.	0.048	0.13305	.	.	0.136095386433	0.13204	0.3975602629419287	0.39671	0.22972423591	0.25525	0.470153927803	0.34701	T	0.077581	0.35688	T	-0.568007	0.00228	T	-0.57176	0.15288	T	0.0197675809484633	0.00678	T	0.840116	0.51512	T	0.1358145	0.31506	0.1271534	0.30614	0.1358145	0.31506	0.1271534	0.30613	-8.493	0.64383	D	.	.	0.117	0.23675	B	.	.	2.036393	0.25880	16.92	0.99695929006381323	0.80248	0.25870	0.22827	N	AEFGBCI	0.175292	0.30246	N	-0.506304372857282	0.21875	1.164149	-0.614733758531994	0.19114	1.024147	0.999990770488363	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.15	2.29	0.27658	2.359000	0.43797	1.294000	0.25431	0.549000	0.26987	0.775000	0.29414	0.876000	0.27648	0.220000	0.22462	0.0:0.8178:0.0:0.1822	9.571	0.38591	895	0.25842	Zinc finger, DNL-type	.	.	PMPCA	Adipose_Visceral_Omentum	rs147703592	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.015306	0.005435	0.005848	0.000000	0.017241	0.009146	0.007576	0.05263	728.83	16	chr9	136362125	.	C	T	728.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.75;DP=591;ExcessHet=0.119;FS=2.027;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.326;SOR=1.031	GT:AD:DP:GQ:PL	0/1:19,13:32:99:365,0,479	17	0	2	0
chr9	137169418	137169418	C	G	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.G526C:p.D176H	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.580358652543	.	0.000998403	0.0028	0	0.0023	0.0071	0	0.0002	0	0.0044	0.0003234	50	154602	rs563732337	0.0003	0.0003	0.0001	0.0004	0.0033	0.0002	0.0002	0.0030	0.0028	0	5.809e-05	0	0.0004	0	0.0016	5.777e-05	0.0003	0.0033	0.0002	0.0002	3.858e-05	0.0003	0.0033	0.0001	8.72e-05	0.0021	0.0017	0	0	0	0	0.0008	0	0	4.413e-05	0	0.0033	0.004	0.65419	D	0.168	0.30631	T	0.948	0.53620	P	0.901	0.63994	P	0.001747	0.38106	N	0.114825	1	0.08975	N	-0.02	0.05091	N	0.46	0.56281	T	-3.59	0.69236	D	0.285	0.32259	-1.0237	0.22508	T	0.128	0.43625	T	10	0.0070390403	0.00160	T	0.580359	0.96237	D	0.118	0.32913	0.261	0.20473	0.340510301474	0.33666	0.5399067227243248	0.53915	1.64548930497	0.89442	0.921778619289	0.98456	D	0.063147	0.32101	T	-0.449385	0.01139	T	-0.421338	0.30922	T	0.109117556538985	0.13332	T	0.738226	0.35599	T	0.3814089	0.59418	0.3889117	0.63724	0.3814089	0.59418	0.3889117	0.63723	-5.531	0.42157	T	.	.	0.405	0.59832	A	.	.	4.024500	0.59468	24.1	0.99123202392481891	0.53037	0.04624	0.10287	N	ALL	0.135305	0.25560	N	-0.288043707976386	0.29610	1.643498	-0.382218038222062	0.25527	1.404369	0.99999999998509	0.74766	0.443343	0.08805	1	0.560097	0.17682	1	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.14	3.23	0.36150	0.171000	0.16497	2.463000	0.32863	0.503000	0.22915	0.002000	0.15269	0.996000	0.32793	0.835000	0.39381	0.0:0.7667:0.0:0.2333	6.319	0.20413	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	584.33	33	chr9	137169418	.	C	G	584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.194;DP=745;ExcessHet=0;FS=5.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.93;SOR=0.301	GT:AD:DP:GQ:PL	0/1:41,24:65:99:598,0,1224	18	0	1	0
chr9	137192553	137192579	CCTCTTCCTCCTCTTCCTCTTCCTCCT	-	exonic	TPRN	.	nonframeshift deletion	TPRN:NM_001128228:exon2:c.1838_1864del:p.E613_E621del	Deafness, autosomal recessive 79, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.177e-05	0	0	0	0	9.362e-05	0	0	3.84e-05	1	26028	rs775298549	1.44e-05	1.437e-05	1.91e-05	9.654e-06	1.261e-05	9.26e-06	7.86e-06	7.32e-06	5.72e-06	0	0	0.0002	0	0	0	1.261e-05	1.659e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1989.29	34	chr9	137192552	.	CCCTCTTCCTCCTCTTCCTCTTCCTCCT	C	1989.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.02;DP=770;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.31;ReadPosRankSum=0.79;SOR=0.52	GT:AD:DP:GQ:PL	0/1:51,52:103:99:2003,0,1920	18	0	1	0
chr9	137555240	137555240	C	G	exonic	DPH7	.	stoploss	DPH7:NM_001346373:exon7:c.G956C:p.X319S,DPH7:NM_001346396:exon7:c.G764C:p.X255S,DPH7:NM_001346370:exon8:c.G1292C:p.X431S,DPH7:NM_001346375:exon8:c.G830C:p.X277S,DPH7:NM_001346384:exon8:c.G830C:p.X277S,DPH7:NM_001346385:exon8:c.G830C:p.X277S,DPH7:NM_001346386:exon8:c.G830C:p.X277S,DPH7:NM_001346388:exon8:c.G830C:p.X277S,DPH7:NM_001346392:exon8:c.G830C:p.X277S,DPH7:NM_001346393:exon8:c.G764C:p.X255S,DPH7:NM_001346382:exon9:c.G830C:p.X277S,DPH7:NM_001346383:exon9:c.G830C:p.X277S,DPH7:NM_001346387:exon9:c.G830C:p.X277S,DPH7:NM_001346394:exon9:c.G764C:p.X255S,DPH7:NM_001346395:exon9:c.G764C:p.X255S,DPH7:NM_138778:exon9:c.G1358C:p.X453S,DPH7:NM_001346376:exon10:c.G830C:p.X277S,DPH7:NM_001346377:exon10:c.G830C:p.X277S,DPH7:NM_001346378:exon10:c.G830C:p.X277S,DPH7:NM_001346381:exon10:c.G830C:p.X277S,DPH7:NM_001346389:exon10:c.G830C:p.X277S,DPH7:NM_001346391:exon10:c.G830C:p.X277S,DPH7:NM_001346379:exon11:c.G830C:p.X277S,DPH7:NM_001346380:exon11:c.G830C:p.X277S,DPH7:NM_001346390:exon11:c.G830C:p.X277S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.009	0.00081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.426677	0.01552	T	-0.850668	0.00951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.153732	0.03334	0.585	0.61484606838872835	0.06721	0.13490	0.17885	N	AEFDGBHCI	.	.	.	0.145153732930948	0.48582	3.068773	-0.246384029755737	0.29896	1.678709	0.999639931447616	0.41205	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	0.148143	0.27250	4.74	0.684	0.17167	0.001000	0.12940	-0.242000	0.10582	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.1318:0.5057:0.1287:0.2339	2.349	0.04017	988	0.01987	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	399.33	35	chr9	137555240	.	C	G	399.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=657;ExcessHet=0;FS=1.315;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.184;SOR=0.954	GT:AD:DP:GQ:PL	0/1:27,15:42:99:413,0,753	18	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	572.82	69	chr9	138023729	.	A	*	572.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.352;DP=868;ExcessHet=2.0135;FS=4.594;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=-1.176;SOR=0.925	GT:AD:DP:GQ:PL	0/1:37,20:57:99:703,0,1460	14	0	5	0
chr10	13182970	13182970	G	A	exonic	MCM10	.	nonsynonymous SNV	MCM10:NM_018518:exon8:c.G968A:p.R323H,MCM10:NM_182751:exon8:c.G971A:p.R324H	.	429	1087	6	0	0	6	0.00275229	.	.	.	2813003	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0002	0.00559105	0.0024	0.0002	0.0145	0.0092	0.0015	0.0003	0.0011	0.0005	0.0025161	389	154602	rs149343572	0.0010	0.0010	0.0010	0.0009	0.0143	0.0009	0.0009	0.0134	0.0130	0.0002	0.0143	0	0.0103	0.0018	0.0007	0.0002	0.0012	0.0004	0.0018	0.0018	0.0013	0.0023	0.0117	0.0016	0.0016	0.0103	0.0097	0.0003	0	0.0117	0	0.0089	0.0018	0	0.0002	0.0019	0.0008	0.572	0.06223	T	0.608	0.07842	T	0.009	0.17573	B	0.012	0.16012	B	0.001239	0.39743	N	0.301490	0.549221	0.32119	D	0.815	0.20815	L	2.55	0.13795	T	0.52	0.02853	N	0.092	0.07262	-1.0377	0.18016	T	0.012	0.04795	T	10	0.0044953227	0.00092	T	.	.	.	0.016	0.02506	.	.	0.112648838833	0.10856	0.3312731131321053	0.33040	0.127220965103	0.14337	0.221794605255	0.01416	T	0.055971	0.30157	T	-0.629955	0.00096	T	-0.665987	0.07868	T	0.00214048974237408	0.00022	T	0.80472	0.45238	T	0.032834396	0.03386	0.021841714	0.00223	0.032834396	0.03385	0.021841714	0.00223	-7.343	0.56501	T	.	.	0.073	0.04889	B	.;.;.	.;.;.	1.438368	0.18577	13.81	0.69189971361022662	0.08893	0.84982	0.44080	D	AEFBI	0.173745	0.30084	N	-0.726757700694294	0.15272	0.768226	-0.587622193945484	0.19816	1.064854	0.00376700496658179	0.10270	0.744818	0.98587	0	0.653731	0.59785	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.43	0.35	0.15273	2.420000	0.44334	1.356000	0.25844	-0.113000	0.14837	1.000000	0.71638	0.759000	0.26609	0.951000	0.49849	0.4195:0.0:0.5805:0.0	9.320	0.37121	861	0.33516	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1088.33	34	chr10	13182970	.	G	A	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.357;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=2.4;SOR=0.781	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1102,0,682	18	0	1	0
chr10	16915037	16915037	A	G	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon47:c.T7346C:p.M2449T	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1500	21	0	0	21	0.00695134	.	.	.	459738	Imerslund-Grasbeck_syndrome|not_provided|Imerslund-Grasbeck_syndrome_type_1|CUBN-related_disorder	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:C3661900|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0024	0.00339457	0.0044	0.0005	0.0010	0.0001	0.0002	0.0029	0.01	0.0190	0.0040556	627	154602	rs41301097	0.0033	0.0033	0.0028	0.0038	0.0181	0.0032	0.0032	0.0173	0.0170	0.0005	0.0011	0.0049	2.519e-05	0.0004	0.0084	0.0025	0.0036	0.0181	0.0021	0.0021	0.0021	0.0021	0.0155	0.0019	0.0018	0.0127	0.0117	0.0004	0	0.0004	0.0052	0	0.0002	0	0.0029	0.0019	0.0155	0.581	0.05973	T	0.55	0.09425	T	0.0	0.02946	B	0.001	0.04355	B	0.005953	0.01103	N	2.812850	1	0.08975	N	-0.73	0.01772	N	-0.86	0.74477	T	-0.01	0.07155	N	0.064	0.03613	-0.9600	0.39181	T	0.138	0.45526	T	10	0.0033961833	0.00059	T	.	.	.	0.058	0.16647	.	.	0.467416895013	0.46368	0.3127677485016908	0.31189	0.0900815735264	0.10158	0.21158324182	0.00880	T	0.034805	0.23469	T	-0.626878	0.00100	T	-0.658964	0.08337	T	0.00170003410307051	0.00017	T	0.150085	0.01260	T	0.039272573	0.05391	0.080931626	0.18350	0.039272573	0.05391	0.080931626	0.18349	-2.423	0.05276	T	0.06617062895478984	0.02237	0.064	0.01738	B	.	.	-0.028267	0.04090	0.960	0.17691399163817484	0.00526	0.08649	0.14548	N	AEFGI	0.083061	0.16824	N	-1.22731178148344	0.04608	0.2082969	-1.20217761194516	0.05875	0.2811844	0.677622759163957	0.22443	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.794256	0.99912	0	.	.	5.1	-1.28	0.08834	1.385000	0.34014	0.533000	0.19265	0.684000	0.82519	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.2886:0.3393:0.3721:0.0	4.945	0.13336	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	618.33	33	chr10	16915037	.	A	G	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.367;DP=683;ExcessHet=0;FS=0.995;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.32;SOR=0.56	GT:AD:DP:GQ:PL	0/1:27,29:56:99:632,0,705	18	0	1	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T	.	434	1062	24	2	0	28	0.0130112	.	.	.	3221913	BMS1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016129	0.000000	0.005495	0.021930	0.000000	0.017241	0.011029	0.037815	0.02632	367.33	34	chr10	42820245	.	G	A	367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.884;DP=666;ExcessHet=0;FS=1.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.1;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.184;SOR=0.269	GT:AD:DP:GQ:PL	0/1:14,14:28:99:381,0,345	18	0	1	0
chr10	45815611	45815611	C	T	exonic	FAM25E	.	nonsynonymous SNV	FAM25E:NM_001351234:exon2:c.G64A:p.E22K	.	555	963	4	0	0	4	0.00207254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37382561456	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385027343	0.0004	0.0004	0.0003	0.0006	0.0060	0.0004	0.0004	0.0056	0.0054	6.62e-05	0	0	2.826e-05	0	0.0010	8.298e-05	0.0005	0.0060	0.0002	0.0002	0.0002	0.0003	0.0058	0.0002	0.0001	0.0041	0.0036	2.414e-05	0	0	0	0.0002	0	0	4.41e-05	0.0005	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	963.33	33	chr10	45815611	.	C	T	963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=703;ExcessHet=0;FS=5.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.76;MQRankSum=0;QD=11.75;ReadPosRankSum=-1.121;SOR=1.397	GT:AD:DP:GQ:PL	0/1:44,38:82:99:977,0,1020	18	0	1	0
chr10	47324926	47324926	G	T	exonic	GDF2	.	nonsynonymous SNV	GDF2:NM_016204:exon2:c.G432T:p.Q144H	Telangiectasia, hereditary hemorrhagic, type 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.525e-06	7.524e-06	0	1.513e-05	0.0001	4.04e-06	2.95e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	0	0.0001	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.31	0.19721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.19	0.65931	T	.	.	.	0.19	0.20793	.	.	.	.	.	.	.	0.26384282	0.43866	T	.	.	.	.	.	.	.	.	.	0.8242071678069129	0.82378	.	.	.	.	.	0.336919	0.70637	T	.	.	.	.	.	.	.	.	.	0.717928	0.33070	T	.	.	.	.	.	.	.	.	-4.318	0.28428	T	0.11634660952931244	0.10509	0.134	0.29032	B	.	.	3.126418	0.42227	21.5	.	.	.	.	.	.	0.437074	0.49703	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.839000	0.38861	3.643000	0.39353	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	.	.	.	976	0.04745	TGF-beta, 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	.	.	.	.	.	.	.	.	0.02632	2177.33	34	chr10	47324926	.	G	T	2177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.308;DP=917;ExcessHet=0;FS=2.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.059;SOR=0.896	GT:AD:DP:GQ:PL	0/1:104,88:192:99:2191,0,2661	18	0	1	0
chr10	47762985	47762985	G	A	exonic	LOC102724488	.	nonsynonymous SNV	LOC102724488:NM_001370182:exon1:c.C20T:p.P7L	.	423	1042	52	5	0	62	0.028891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274217361	0.0100	0.0090	0.0095	0.0105	0.0352	0.0098	0.0097	0.0339	0.0333	0.0008	0.0039	0.0053	0.0001	0.0027	0.0210	0.0092	0.0095	0.0352	0.0067	0.0068	0.0066	0.0068	0.0332	0.0064	0.0062	0.0290	0.0274	0.0016	0.0197	0.0031	0.0066	0.0008	0.0018	0.0069	0.0098	0.0062	0.0332	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9927	0.31906	T	0.027	0.11529	T	5	0.0038524568	0.00073	T	.	.	.	.	.	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.602763	0.00140	T	-0.619679	0.11211	T	0.00701992962231316	0.00080	T	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47923	B	.	.	0.550080	0.09184	5.969	0.97470783630290847	0.34136	0.02197	0.06416	N	AEFDBCI	.	.	.	-0.557036156197848	0.20264	1.066943	-0.754943317959088	0.15601	0.8213311	0.999999664354138	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	1.65	1.65	0.23015	0.145000	0.15978	-0.515000	0.08723	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	0.0:0.0:1.0:0.0	6.756	0.22703	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	.	.	.	.	.	.	.	.	0.02632	288.33	34	chr10	47762985	.	G	A	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.37;DP=550;ExcessHet=0;FS=4.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.81;MQRankSum=-1.239;QD=12.01;ReadPosRankSum=0.029;SOR=2.303	GT:AD:DP:GQ:PL	0/1:14,10:24:99:302,0,312	18	0	1	0
chr10	48459790	48459790	C	G	exonic	ARHGAP22	.	nonsynonymous SNV	ARHGAP22:NM_001256026:exon3:c.G283C:p.E95Q,ARHGAP22:NM_001347735:exon4:c.G424C:p.E142Q,ARHGAP22:NM_001256024:exon5:c.G601C:p.E201Q,ARHGAP22:NM_001256025:exon5:c.G571C:p.E191Q,ARHGAP22:NM_021226:exon5:c.G553C:p.E185Q,ARHGAP22:NM_001347738:exon6:c.G571C:p.E191Q	.	427	1086	9	0	0	9	0.00412655	.	.	.	752111	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.142	0.00842980633544	0.0006	0.000998403	0.0015	9.639e-05	0.0003	0	0	0.0010	0	0.0062	0.0012678	196	154602	rs141575110	0.0009	0.0009	0.0007	0.0011	0.0060	0.0009	0.0008	0.0056	0.0054	8.961e-05	0.0003	0.0107	2.519e-05	0	0.0009	0.0004	0.0013	0.0060	0.0007	0.0007	0.0006	0.0009	0.0066	0.0006	0.0006	0.0048	0.0042	7.214e-05	0	0.0004	0.0110	0	0	0.0102	0.0004	0.0024	0.0066	0.411	0.28646	T	0.324	0.19480	T	0.592	0.73220	P	0.349	0.67262	B	0.000001	0.62929	D	0.056233	1	0.81001	D	1.435	0.35949	L	2.2	0.18570	T	-1.73	0.41046	N	0.285	0.32591	-1.1231	0.02144	T	0.084	0.32986	T	10	0.0058410764	0.00130	T	0.00843	0.22307	T	0.142	0.37995	.	.	0.238705975628	0.23479	0.45996758904412854	0.45914	0.351601627077	0.36998	0.567807674408	0.48367	T	0.056836	0.30398	T	-0.439707	0.01298	T	-0.402604	0.33081	T	0.0490215323719967	0.05328	T	0.878312	0.59309	D	0.3977095	0.60573	0.15204486	0.35789	0.3977095	0.60574	0.15204486	0.35789	-3.51	0.16572	T	.	.	0.078	0.28835	B	.;.;.;.;.;.	.;.;.;.;.;.	3.560714	0.50099	22.9	0.99586095798452834	0.73336	0.89500	0.50004	D	AEFDBHCIJ	0.709495	0.66356	D	0.105659509635348	0.46726	2.908665	0.195989930216317	0.49625	3.163599	1.0	0.98316	0.743674	0.98306	0	0.615948	0.52940	0	0.659943	0.59835	0	0.584449	0.35598	0	.	.	4.9	4.9	0.63643	2.008000	0.40513	5.846000	0.50293	0.549000	0.26987	0.962000	0.33725	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.242	0.86899	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein 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	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	1759.83	40	chr10	48459790	.	C	G	1759.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.704;DP=845;ExcessHet=0.119;FS=1.908;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.039;SOR=0.536	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1116,0,1067	17	0	2	0
chr10	60071736	60071736	G	A	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.C9145T:p.P3049S	.	.	.	.	.	.	.	.	.	.	.	2813181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.239	0.0980468384735	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009329743	4.149e-06	4.788e-06	2.749e-06	5.566e-06	0.0002	1.49e-06	9.8e-07	4.02e-06	1.5e-06	0	0	0	0	0	0.0002	1.808e-06	1.677e-05	2.421e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	.	.	.	1.0	0.90584	D	0.994	0.82059	D	0.000806	0.41658	D	0.000000	0.99845	0.81001	D	1.1	0.28011	L	-0.14	0.65006	T	-3.77	0.71397	D	0.546	0.57263	-0.2286	0.76924	T	0.400	0.75130	T	10	0.6400256	0.69003	D	0.098047	0.76876	D	0.239	0.54358	0.24	0.17218	0.524548123887	0.52101	0.12058577408623472	0.11985	0.623023121527	0.56539	0.576918363571	0.49651	T	0.620192	0.88083	D	-0.0280151	0.47704	T	-0.257747	0.49050	T	0.925541460514069	0.58732	D	0.90321	0.66112	D	0.2879683	0.51803	0.31502047	0.57491	0.2879683	0.51803	0.31502047	0.57490	-4.278	0.27867	T	.	.	0.544	0.66549	A	.	.	4.229740	0.64047	24.7	0.99882573207444247	0.95813	0.98661	0.85270	D	AEFBI	0.821946	0.74239	D	0.626348803437973	0.74845	6.202598	0.618004446776572	0.76245	6.456027	0.999999999997613	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.23	5.23	0.72570	4.155000	0.57910	11.920000	0.99804	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.794	0.91951	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	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1258.33	111	chr10	60071736	.	G	A	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.057;DP=1426;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.875;SOR=0.793	GT:AD:DP:GQ:PL	0/1:38,40:78:99:1272,0,1031	18	0	1	0
chr10	71295850	71295850	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon13:c.G2182A:p.V728M,UNC5B:NM_170744:exon14:c.G2215A:p.V739M	.	394	1107	21	0	0	21	0.00939597	.	.	.	2813257	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.0096062909873	0.0062	0.00319489	0.0044	0.0007	0.0050	0.0001	0.0021	0.0060	0.0067	0.0030	0.0045924	710	154602	rs61749231	0.0062	0.0062	0.0062	0.0063	0.0104	0.0061	0.0061	0.0081	0.0073	0.0010	0.0061	0.0054	2.519e-05	0.0016	0.0104	0.0071	0.0057	0.0033	0.0049	0.0049	0.0048	0.0051	0.0100	0.0046	0.0045	0.0087	0.0082	0.0013	0.0110	0.0100	0.0040	0.0002	0.0021	0.0136	0.0066	0.0090	0.0046	0.044	0.41915	D	0.083	0.41405	T	0.891	0.52202	P	0.103	0.37221	B	0.000041	0.55875	D	0.075690	0.988799	0.40829	D	0.55	0.14455	N	0.85	0.49068	T	0.07	0.06488	N	0.317	0.35727	-1.0663	0.10246	T	0.048	0.20434	T	10	0.01018104	0.00228	T	0.009606	0.25130	T	0.089	0.25827	.	.	0.571483254199	0.56815	0.324772179579908	0.32390	0.194266033639	0.21761	0.385050028563	0.22971	T	0.091907	0.38894	T	-0.496787	0.00596	T	-0.480404	0.24405	T	0.0145942026691059	0.00300	T	0.925307	0.72522	D	0.05428148	0.10392	0.06900502	0.14484	0.05428148	0.10391	0.06900502	0.14484	-3.936	0.25877	T	.	.	0.176	0.38516	B	.;.	.;.	3.311050	0.45497	22.1	0.99483901873544056	0.67069	0.82049	0.41338	D	AEFDBI	0.228385	0.35206	N	0.0802413269620108	0.45541	2.808962	0.14793409110222	0.47032	2.939694	0.999924853282987	0.46280	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	4.7	3.76	0.42368	1.686000	0.37287	6.297000	0.55407	0.618000	0.50648	0.992000	0.37556	1.000000	0.68203	0.757000	0.36037	0.0:0.2014:0.6719:0.1267	9.707	0.39386	900	0.24599	UPA 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	0.016113	0.005051	0.010870	0.052632	0.000000	0.043103	0.000000	0.000000	0.02632	1126.33	33	chr10	71295850	.	G	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.493;DP=717;ExcessHet=0;FS=0.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.285;SOR=0.818	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1140,0,1128	18	0	1	0
chr10	72097347	72097347	A	G	exonic	ASCC1	.	nonsynonymous SNV	ASCC1:NM_001369099:exon9:c.T1007C:p.I336T,ASCC1:NM_001369108:exon9:c.T941C:p.I314T,ASCC1:NM_001369109:exon9:c.T941C:p.I314T,ASCC1:NM_001198798:exon10:c.T1061C:p.I354T,ASCC1:NM_001198800:exon10:c.T1061C:p.I354T,ASCC1:NM_001369093:exon10:c.T1061C:p.I354T,ASCC1:NM_001369094:exon10:c.T1061C:p.I354T,ASCC1:NM_001369095:exon10:c.T1061C:p.I354T,ASCC1:NM_001369105:exon11:c.T944C:p.I315T,ASCC1:NM_001369106:exon11:c.T944C:p.I315T,ASCC1:NM_001369107:exon11:c.T944C:p.I315T	Barrett esophagus/esophageal adenocarcinoma	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0287873514815	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202023983	2.059e-06	2.052e-06	1.366e-06	2.757e-06	1.805e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	0.999325	0.46670	D	.	.	.	-0.28	0.67543	T	-2.6	0.55983	D	0.175	0.28616	-0.8228	0.53758	T	0.205	0.56335	T	9	0.16679084	0.31136	T	0.028787	0.51409	D	0.155	0.40530	.	.	0.562502419844	0.55913	.	.	.	.	.	.	.	.	.	.	-0.162852	0.26322	T	-0.471702	0.25332	T	0.341418562684086	0.26680	T	0.691931	0.30130	T	.	.	.	.	.	.	.	.	-6.445	0.49860	T	.	.	0.125	0.26294	B	.;.;.	.;.;.	3.791626	0.54583	23.5	0.94972399469194091	0.25902	0.77286	0.37983	D	AEFBCI	0.315507	0.42006	N	-0.17410869103723	0.34216	1.950285	-0.0590279087307668	0.37103	2.167919	0.999990591276477	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635259	0.50027	0	.	.	5.47	4.31	0.50718	4.973000	0.63479	11.211000	0.89399	0.665000	0.62972	0.999000	0.42656	0.997000	0.33255	0.994000	0.71098	0.8518:0.0:0.0:0.1482	10.211	0.42317	849	0.35778	Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain;Protein kinase A anchor protein, nuclear localisation signal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	790.33	35	chr10	72097347	.	A	G	790.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.56;DP=697;ExcessHet=0;FS=3.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.141;SOR=0.34	GT:AD:DP:GQ:PL	0/1:34,32:66:99:804,0,846	18	0	1	0
chr10	75094821	75094821	G	A	exonic	DUSP13	.	nonsynonymous SNV	DUSP13:NM_001007272:exon4:c.C602T:p.A201V,DUSP13:NM_001363514:exon4:c.C860T:p.A287V,DUSP13:NM_016364:exon4:c.C452T:p.A151V,DUSP13:NM_001320843:exon5:c.C452T:p.A151V,DUSP13:NM_001007273:exon6:c.C731T:p.A244V,DUSP13:NM_001320842:exon7:c.C731T:p.A244V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.818	0.198954532298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.685	0.94485	H	-0.23	0.66652	T	-4.0	0.74051	D	0.946	0.95841	0.473	0.90165	D	0.619	0.86564	D	10	0.90159065	0.89521	D	0.198955	0.86624	D	0.818	0.94162	.	.	0.521601224155	0.51804	0.9036362636836917	0.90336	0.624719113291	0.56669	0.66514134407	0.62145	T	0.789778	0.95561	D	0.383134	0.88909	D	0.312569	0.88770	D	0.999062240123749	0.96056	D	0.957954	0.95853	D	0.8362485	0.86341	0.7498638	0.85215	0.8362485	0.86342	0.7498638	0.85216	-12.507	0.88727	D	.	.	0.648	0.75904	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.037730	0.83830	28.1	0.99929625268184041	0.99279	0.98977	0.89442	D	AEFBI	0.946729	0.95649	D	1.03673148337112	0.96766	15.11615	0.960846842172383	0.97715	16.62802	0.999999999999996	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	5.37	5.37	0.76949	9.559000	0.97245	11.841000	0.97811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	19.107	0.93282	23	0.98420	Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Dual specificity protein phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1282.33	34	chr10	75094821	.	G	A	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.286;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.752;SOR=0.623	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1296,0,1136	18	0	1	0
chr10	86943129	86943129	G	T	exonic	MMRN2	.	nonsynonymous SNV	MMRN2:NM_024756:exon6:c.C1655A:p.A552E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0524848416747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	0.14017	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.782499	0.06663	N	1.121610	1	0.08975	N	0.255	0.09829	N	-0.44	0.69777	T	-0.22	0.10480	N	0.091	0.06990	-1.0472	0.15188	T	0.073	0.29707	T	10	0.033834755	0.01571	T	0.052485	0.65089	D	0.073	0.21317	0.273	0.22369	0.332646915603	0.32870	0.1954518376935963	0.19462	1.3103030877	0.83193	0.487660467625	0.37114	T	0.002132	0.01537	T	-0.23833	0.15562	T	-0.580121	0.14534	T	0.0666363292919281	0.08170	T	0.424958	0.11391	T	0.04984918	0.08915	0.061138436	0.11758	0.04984918	0.08915	0.061138436	0.11758	-3.449	0.15725	T	.	.	0.091	0.13032	B	.	.	-0.637114	0.01473	0.091	0.55936671234171154	0.05446	0.03023	0.07902	N	AEFBI	0.056763	0.10518	N	-2.34600312138007	0.00036	0.001538505	-2.39863401689295	0.00039	0.001737792	0.999999991307449	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.685742	0.62368	0	0.714379	0.83352	0	.	.	5.35	-10.7	0.00191	-0.462000	0.06781	-0.808000	0.07346	-0.889000	0.02397	0.000000	0.06391	0.000000	0.08366	0.190000	0.21601	0.1179:0.1883:0.2929:0.4009	3.161	0.06131	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1322.33	46	chr10	86943129	.	G	T	1322.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.31;DP=724;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-1.571;SOR=0.933	GT:AD:DP:GQ:PL	0/1:36,43:79:99:1336,0,813	18	0	1	0
chr10	89306689	89306689	G	C	exonic	IFIT2	.	nonsynonymous SNV	IFIT2:NM_001547:exon2:c.G733C:p.G245R	.	421	1064	37	0	0	37	0.0170901	.	.	.	712502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0055	0.00459265	0.0070	0.0013	0.0044	0.0128	0.0035	0.0084	0.0111	0.0049	0.0070245	1086	154602	rs41284134	0.0068	0.0068	0.0067	0.0069	0.0310	0.0067	0.0066	0.0273	0.0259	0.0025	0.0039	0.0047	0.0113	0.0062	0.0310	0.0070	0.0070	0.0042	0.0055	0.0055	0.0057	0.0052	0.0123	0.0052	0.0050	0.0099	0.0090	0.0019	0.0022	0.0039	0.0023	0.0123	0.0057	0.0204	0.0076	0.0099	0.0033	0.255	0.16848	T	0.209	0.26798	T	0.0	0.02946	B	0.0	0.01387	B	0.440592	0.12632	U	0.678971	1	0.08975	N	0.255	0.09829	N	1.15	0.38236	T	-1.34	0.33401	N	0.122	0.11340	-1.0566	0.12621	T	0.016	0.06711	T	10	0.0033566654	0.00058	T	.	.	.	0.016	0.02506	.	.	0.17258766438	0.16869	0.16177601230667774	0.16098	0.212422641144	0.23743	0.184119105339	0.00138	T	0.036867	0.24264	T	-0.596728	0.00153	T	-0.62054	0.11143	T	0.000261870921775061	0.00002	T	0.0333967	0.00218	T	0.057331856	0.11395	0.044266384	0.05697	0.057331856	0.11395	0.044266384	0.05697	-2.998	0.10159	T	.	.	0.116	0.27553	B	.;.;.	.;.;.	-1.064037	0.00684	0.020	0.65071085912305715	0.07669	0.03715	0.09002	N	AEFGBI	0.079180	0.15988	N	-1.51045435924621	0.01781	0.07800894	-1.58510024626986	0.01746	0.07942316	0.999999679713609	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.58	-6.03	0.02001	-0.942000	0.04031	-4.702000	0.02026	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.1602:0.3556:0.2905:0.1936	2.871	0.05271	818	0.41518	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	.	Likely benign	0	0	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	0.023162	0.010101	0.038043	0.035088	0.050000	0.008621	0.012195	0.007576	0.02632	2570.33	34	chr10	89306689	.	G	C	2570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.028;DP=1315;ExcessHet=0;FS=2.887;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.543;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,71:152:99:0|1:89306689_G_C:2584,0,3051:89306689	18	0	1	0
chr10	89339709	89339709	G	C	exonic	IFIT3	.	nonsynonymous SNV	IFIT3:NM_001031683:exon2:c.G1054C:p.V352L,IFIT3:NM_001549:exon2:c.G1054C:p.V352L,IFIT3:NM_001289758:exon3:c.G898C:p.V300L,IFIT3:NM_001289759:exon3:c.G898C:p.V300L	.	428	1050	44	0	0	44	0.0205224	.	.	.	712503	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0095	0.00838658	0.0079	0.0120	0.0065	0.0034	0.0035	0.0092	0.0132	0.0044	0.0080659	1247	154602	rs140549288	0.0073	0.0073	0.0072	0.0073	0.0376	0.0072	0.0071	0.0335	0.0319	0.0147	0.0065	0.0082	0.0019	0.0067	0.0376	0.0073	0.0090	0.0039	0.0090	0.0091	0.0095	0.0085	0.0142	0.0086	0.0085	0.0133	0.0129	0.0142	0.0033	0.0064	0.0055	0.0033	0.0058	0.0340	0.0078	0.0137	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.953658	0.08270	N	0.978763	1	0.08975	N	-2.15	0.00138	N	3.12	0.08106	T	1.21	0.01064	N	0.031	0.00770	-0.9382	0.42900	T	0.002	0.00707	T	10	0.0034144819	0.00060	T	.	.	.	0.026	0.05648	.	.	0.151104730317	0.14643	0.05788137922859237	0.05729	0.190880070537	0.21403	0.213487833738	0.00968	T	0.009261	0.08439	T	-0.795479	0.00008	T	-0.904396	0.00472	T	0.00421190610503837	0.00045	T	0.285571	0.05082	T	0.028140498	0.02107	0.03136494	0.01715	0.028140498	0.02107	0.03136494	0.01715	-2.58	0.06352	T	.	.	0.078	0.06942	B	.;.	.;.	-1.019289	0.00744	0.023	0.46844251783305813	0.03783	0.01127	0.04103	N	AEFBCI	0.031552	0.03397	N	-1.70175386471248	0.00836	0.03613641	-1.63272795159315	0.01467	0.06639746	0.146792270760237	0.17372	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.34	-1.5	0.08233	-1.091000	0.03480	-0.914000	0.06944	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2526:0.2304:0.3221:0.1948	0.842	0.01078	865	0.32612	.;.	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	rs140549288	Likely benign	0	0	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	0.035750	0.045455	0.050272	0.046784	0.050000	0.025862	0.012195	0.011364	0.05263	3721.83	34	chr10	89339709	.	G	C	3721.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.32;DP=938;ExcessHet=0.119;FS=3.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.011;SOR=0.818	GT:AD:DP:GQ:PL	0/1:80,70:150:99:1891,0,2259	17	0	2	0
chr10	91951543	91951543	G	T	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon5:c.G541T:p.A181S	.	421	1094	7	0	0	7	0.00318907	.	.	.	2451654	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0305472226054	0.0015	0.00179712	0.0026	0.0002	0.0008	0	0.0017	0.0021	0	0.0092	0.0024126	373	154602	rs143465709	0.0024	0.0024	0.0022	0.0026	0.0092	0.0024	0.0023	0.0087	0.0085	0.0003	0.0009	0.0002	2.537e-05	0.0010	0.0033	0.0023	0.0020	0.0092	0.0017	0.0017	0.0015	0.0019	0.0093	0.0015	0.0015	0.0072	0.0064	0.0005	0	0.0017	0	0	0.0016	0.0102	0.0021	0.0014	0.0093	0.773	0.03354	T	0.813	0.03910	T	0.0	0.02946	B	0.001	0.04355	B	0.002717	0.36068	N	0.305782	0.988272	0.40734	D	-0.46	0.02758	N	-2.61	0.89953	D	0.2	0.04861	N	0.155	0.19459	-0.6629	0.62148	T	0.333	0.70043	T	10	0.003952384	0.00076	T	0.030547	0.52835	D	0.249	0.55752	.	.	0.43068463968	0.42687	0.1427154959639439	0.14194	0.440069081721	0.44022	0.42445987463	0.28450	T	0.065664	0.32747	T	-0.377247	0.03242	T	-0.308834	0.43785	T	0.0036264418587948	0.00038	T	0.773323	0.40460	T	0.050170317	0.09022	0.065170236	0.13171	0.050170317	0.09021	0.065170236	0.13171	-2.092	0.03550	T	.	.	0.070	0.03301	B	.;.	.;.	1.746527	0.22223	15.53	0.49164010667162972	0.04163	0.97342	0.74144	D	AEFGBI	0.293684	0.40425	N	-0.533136267924007	0.21015	1.112194	-0.321190887566464	0.27415	1.521081	0.0412145867519837	0.14474	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	4.09	0.47038	3.675000	0.54340	5.918000	0.51122	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0749:0.0:0.7839:0.1412	9.563	0.38543	919	0.19497	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	2131.83	120	chr10	91951543	.	G	T	2131.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.629;DP=817;ExcessHet=0.119;FS=0.5;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.145;SOR=0.747	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1303,0,1386	17	0	2	0
chr10	92239875	92239875	T	C	exonic	CPEB3	.	nonsynonymous SNV	CPEB3:NM_001178137:exon2:c.A476G:p.Q159R,CPEB3:NM_014912:exon2:c.A476G:p.Q159R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.127451247285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.564	0.08991	T	0.908	0.50127	P	0.888	0.63021	P	0.440491	0.04757	N	1.566710	0.99696	0.43535	D	1.1	0.28011	L	0.89	0.45636	T	-0.8	0.22294	N	0.444	0.48227	-0.9542	0.40238	T	0.117	0.41320	T	10	0.3390661	0.51000	T	0.127451	0.80926	D	0.241	0.54641	0.141	0.04462	0.910905623823	0.91001	0.4532872189128743	0.45246	1.46893529203	0.86508	0.81584250927	0.84390	D	0.014663	0.12441	T	0.00232901	0.51976	T	-0.234431	0.51341	T	0.533258738619581	0.33854	D	0.881612	0.60121	D	0.18360348	0.39636	0.13919412	0.33218	0.18360348	0.39636	0.13919412	0.33218	-4.782	0.34673	T	.	.	0.369	0.58493	A	.;.;.	.;.;.	4.254587	0.64612	24.7	0.96173004153565134	0.28936	0.59456	0.30920	D	AEFDGBCIJ	0.615361	0.60233	D	-0.00374854696076059	0.41684	2.497846	0.0324351177744268	0.41231	2.473618	0.999999999992359	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.618803	0.45993	0	.	.	3.38	3.38	0.37806	2.571000	0.45654	5.842000	0.50257	0.489000	0.22316	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	10.842	0.45929	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	900.33	42	chr10	92239875	.	T	C	900.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.786;DP=810;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.161;SOR=0.578	GT:AD:DP:GQ:PL	0/1:43,38:81:99:914,0,1179	18	0	1	0
chr10	93355738	93355738	T	C	splicing	MYOF	NM_013451:exon31:c.3295-2A>G;NM_133337:exon30:c.3256-2A>G	.	.	.	0	225	1	0	0	1	0.00221729	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205653418	6.859e-07	1.368e-06	0	1.378e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309827	0.83734	D	0.207268	0.83523	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.669327	0.95567	35	0.99455426238738232	0.65530	0.99733	0.99053	D	AEFDBI	.	.	.	1.05539613242461	0.97215	15.76535	0.896367235542294	0.95412	13.59747	0.999999999946266	0.74766	0.295142	0.05270	0	0.059962	0.00310	0	0.083675	0.02720	0	0.322829	0.05601	0	0.965893	0.68827	6.04	6.04	0.98025	7.140000	0.76912	7.781000	0.68671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.464000	0.28207	0.0:0.0:0.0:1.0	16.576	0.84499	589	0.68969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	529.33	41	chr10	93355738	.	T	C	529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.724;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.398;SOR=0.586	GT:AD:DP:GQ:PL	0/1:20,27:47:99:543,0,405	18	0	1	0
chr10	96158783	96158783	G	C	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.G2461C:p.E821Q,ZNF518A:NM_001330732:exon6:c.G2461C:p.E821Q,ZNF518A:NM_001330735:exon6:c.G2461C:p.E821Q,ZNF518A:NM_001330736:exon6:c.G2461C:p.E821Q,ZNF518A:NM_014803:exon6:c.G2461C:p.E821Q,ZNF518A:NM_001278524:exon7:c.G2461C:p.E821Q,ZNF518A:NM_001278526:exon7:c.G871C:p.E291Q,ZNF518A:NM_001330733:exon7:c.G2461C:p.E821Q,ZNF518A:NM_001330734:exon7:c.G2461C:p.E821Q,ZNF518A:NM_001330737:exon7:c.G2461C:p.E821Q,ZNF518A:NM_001330738:exon7:c.G2461C:p.E821Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.34716	T	0.933	0.52105	P	0.349	0.42787	B	.	.	.	.	.	.	.	2.215	0.62545	M	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.18127283	0.33351	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.05116370336497706	0.05058	.	.	0.239616841078	0.02756	T	0.025693	0.19163	T	0.00528495	0.52381	T	-0.230185	0.51754	T	.	.	.	0.485951	0.14839	T	0.09974132	0.23543	0.1833223	0.41314	0.09974132	0.23542	0.1833223	0.41314	-3.463	0.15917	T	.	.	0.114	0.22644	B	.;.;.	.;.;.	1.886472	0.23959	16.22	0.56672710754045763	0.05603	0.60014	0.31076	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00333102315272147	0.10056	0.295142	0.05270	0	0.30413	0.05452	0	0.320204	0.05785	0	0.24341	0.04801	0	0.0489367	0.08445	5.65	4.74	0.59717	2.635000	0.46203	5.016000	0.46707	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.226000	0.22626	0.0825:0.1532:0.7643:0.0	8.498	0.32302	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1122.33	42	chr10	96158783	.	G	C	1122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.6;DP=1100;ExcessHet=0;FS=2.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.037;SOR=0.417	GT:AD:DP:GQ:PL	0/1:57,40:97:99:1136,0,1394	18	0	1	0
chr10	96304532	96304532	G	A	exonic	DNTT	.	nonsynonymous SNV	DNTT:NM_001017520:exon1:c.G35A:p.R12Q,DNTT:NM_004088:exon1:c.G35A:p.R12Q	.	.	.	.	.	.	.	.	.	.	.	2776737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00561685230715	.	.	3.314e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs766910053	1.642e-05	1.71e-05	1.634e-05	1.65e-05	0.0004	1.111e-05	9.33e-06	0.0002	0.0002	0	0	0	0.0004	0	0	5.396e-06	1.656e-05	2.319e-05	2.629e-05	2.627e-05	2.571e-05	2.691e-05	0.0004	8.14e-06	5.14e-06	6.818e-05	2.854e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0002	0.133	0.26409	T	0.168	0.30926	T	0.024	0.21238	B	0.008	0.18489	B	0.007756	0.31217	N	0.337649	0.896118	0.27791	N	2.245	0.63543	M	2.75	0.11622	T	-0.72	0.20358	N	0.154	0.18784	-1.0821	0.06946	T	0.030	0.12848	T	10	0.06679374	0.09212	T	0.005617	0.14530	T	0.023	0.04649	0.243	0.17677	0.427940940899	0.42412	0.4412188076085406	0.44038	0.11468498587	0.12937	0.378552019596	0.22051	T	0.173362	0.52220	T	-0.437415	0.01339	T	-0.509715	0.21346	T	0.117824284351679	0.14215	T	0.791221	0.43226	T	0.29613313	0.52555	0.123202704	0.29711	0.29613313	0.52555	0.123202704	0.29711	-3.503	0.16529	T	.	.	0.094	0.16929	B	.;.	.;.	3.382709	0.46799	22.4	0.99738656553816285	0.83337	0.75805	0.37135	D	AEFBI	0.408788	0.48033	N	-0.077319385885982	0.38388	2.247635	0.0502377755752767	0.42083	2.539291	0.99997900860832	0.50053	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.23	4.32	0.50899	3.062000	0.49664	2.207000	0.31336	0.676000	0.76740	1.000000	0.71638	0.997000	0.33255	0.895000	0.43227	0.0:0.0:0.6537:0.3463	10.754	0.45427	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	384.33	34	chr10	96304532	.	G	A	384.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=599;ExcessHet=0;FS=10.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.616;SOR=1.431	GT:AD:DP:GQ:PL	0/1:8,13:21:99:398,0,172	18	0	1	0
chr10	100220598	100220598	A	G	exonic	CHUK	.	nonsynonymous SNV	CHUK:NM_001278:exon5:c.T464C:p.V155A,CHUK:NM_001320928:exon5:c.T464C:p.V155A	Cocoon syndrome	9	1467	42	4	0	50	0.016756	.	.	.	1278497	not_provided|CHUK-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.0207668	0.0126	0.0004	0.0023	0.0580	0	0.0017	0.0088	0.0534	0.0112741	1743	154602	rs2230803	0.0057	0.0057	0.0044	0.0071	0.0552	0.0056	0.0056	0.0533	0.0525	0.0004	0.0013	0.0067	0.0552	5.63e-05	0.0082	0.0009	0.0090	0.0496	0.0050	0.0050	0.0040	0.0061	0.0592	0.0047	0.0046	0.0538	0.0516	0.0006	0.0022	0.0022	0.0078	0.0592	0	0.0068	0.0014	0.0061	0.0539	1.0	0.00964	T	0.751	0.04790	T	0.001	0.07471	B	0.005	0.11217	B	0.013895	0.28700	N	0.360137	0.529365	0.31504	N	0.715	0.18665	N	-0.1	0.64264	T	0.18	0.05035	N	0.064	0.03613	-1.0512	0.14064	T	0.011	0.04321	T	10	0.0019171834	0.00026	T	.	.	.	0.133	0.36157	.	.	.	.	0.3774204968572709	0.37657	0.672962783049	0.59561	0.488521426916	0.37233	T	0.066124	0.32865	T	-0.498435	0.00583	T	-0.437693	0.29068	T	0.00267601300508277	0.00028	T	0.539346	0.18229	T	0.03628747	0.04434	0.03791049	0.03543	0.03628747	0.04433	0.03791049	0.03543	-4.96	0.36403	T	.	.	0.083	0.09336	B	.	.	1.222298	0.16164	12.36	0.24233075997388187	0.01062	0.90637	0.51979	D	AEFBI	0.298826	0.40804	N	-0.737328779990361	0.14979	0.7509123	-0.481896636289056	0.22652	1.231441	0.853176855870355	0.25083	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.85	4.72	0.59248	2.650000	0.46329	3.530000	0.38948	-0.056000	0.16711	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.9151:0.0:0.0849:0.0	8.846	0.34329	820	0.40914	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.005051	0.005435	0.002924	0.000000	0.017241	0.015244	0.018939	0.02632	1167.33	35	chr10	100220598	.	A	G	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=725;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.908;SOR=0.909	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1181,0,1551	18	0	1	0
chr10	100291342	100291342	T	C	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon12:c.A1825G:p.K609E,PKD2L1:NM_016112:exon12:c.A1966G:p.K656E	.	436	1047	36	3	0	42	0.0196629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0009	0.0209665	0.0126	0.0004	0.0022	0.0580	0	0.0017	0.0088	0.0536	0.0112806	1744	154602	rs79568268	0.0058	0.0058	0.0044	0.0071	0.0558	0.0056	0.0056	0.0539	0.0531	0.0005	0.0013	0.0067	0.0558	5.617e-05	0.0083	0.0009	0.0089	0.0499	0.0050	0.0050	0.0040	0.0061	0.0591	0.0047	0.0046	0.0536	0.0515	0.0005	0.0022	0.0022	0.0078	0.0591	0	0.0068	0.0014	0.0061	0.0546	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000825	0.41547	N	0.271399	0.989172	0.25819	N	0.535	0.13693	N	-0.27	0.67367	T	1.0	0.01408	N	0.097	0.07811	-1.0650	0.10549	T	0.013	0.05033	T	10	0.0017721057	0.00023	T	.	.	.	0.050	0.13987	.	.	.	.	0.09170445828702709	0.09103	0.0931337591576	0.10522	0.276419073343	0.06999	T	0.008844	0.08094	T	-0.539104	0.00339	T	-0.49611	0.22751	T	0.000323396377168035	0.00003	T	0.763824	0.39073	T	0.04916066	0.08687	0.068521455	0.14320	0.04916066	0.08686	0.068521455	0.14320	-4.012	0.23983	T	.	.	0.062	0.01290	B	.	.	1.637626	0.20906	14.96	0.5622660041134101	0.05507	0.66007	0.32930	D	AEFDBCI	0.262862	0.38052	N	-0.76563726123605	0.14212	0.7061358	-0.5879741580489	0.19806	1.064319	0.999983876331531	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.82	2.16	0.26663	1.080000	0.30390	2.764000	0.34625	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.5298:0.0:0.4702	6.369	0.20676	815	0.41851	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011122	0.005051	0.005435	0.002924	0.000000	0.017241	0.018519	0.018939	0.02632	1564.33	33	chr10	100291342	.	T	C	1564.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.86;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.02;SOR=0.655	GT:AD:DP:GQ:PL	0/1:71,59:130:99:1578,0,1790	18	0	1	0
chr10	100980601	100980601	G	A	exonic	SEMA4G	.	nonsynonymous SNV	SEMA4G:NM_001203244:exon11:c.G1375A:p.V459I,SEMA4G:NM_017893:exon11:c.G1375A:p.V459I	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0226823195711	7.7e-05	0.000399361	0.0004	0.0002	8.637e-05	0	0	4.497e-05	0	0.0027	0.0003687	57	154602	rs144844358	0.0003	0.0003	0.0002	0.0004	0.0035	0.0003	0.0002	0.0032	0.0030	5.974e-05	0.0002	0	0	0	0.0012	6.835e-05	0.0002	0.0035	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	9.694e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0	8.82e-05	0	0.0023	0.194	0.31532	T	0.129	0.51112	T	1.0	0.90584	D	0.999	0.92359	D	0.368275	0.13567	N	0.674095	1	0.81001	D	1.455	0.36767	L	2.78	0.11298	T	-0.69	0.19720	N	0.24	0.27077	-1.1602	0.00752	T	0.062	0.25708	T	10	0.017738879	0.00381	T	0.022682	0.45590	T	0.189	0.46613	.	.	0.44143026662	0.43763	0.26811607814268845	0.26724	0.20304463845	0.22720	0.563488304615	0.47760	T	0.096573	0.39852	T	-0.505822	0.00530	T	-0.503346	0.22000	T	0.0812110991605574	0.10142	T	0.728627	0.34357	T	0.07324945	0.16354	0.1059631	0.25483	0.07324945	0.16353	0.1059631	0.25483	-3.386	0.14869	T	.	.	0.117	0.24733	B	.;.;.;.	.;.;.;.	4.137402	0.61958	24.4	0.99786307526168994	0.87219	0.96878	0.71431	D	AEFBCI	0.843133	0.76019	D	0.401680620184757	0.61515	4.353656	0.382180820641627	0.60467	4.234537	0.999531558638399	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.02	4.11	0.47350	7.730000	0.83827	5.668000	0.49244	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0854:0.0:0.9146:0.0	12.010	0.52573	554	0.71839	Sema domain|Sema domain|Sema domain;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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1510.33	34	chr10	100980601	.	G	A	1510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.56;DP=784;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-1.46;SOR=0.842	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1524,0,1192	18	0	1	0
chr10	103570968	103570968	C	T	exonic	NEURL1	.	nonsynonymous SNV	NEURL1:NM_004210:exon2:c.C182T:p.T61M	.	381	1126	15	0	0	15	0.00661667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00720906252433	.	0.000199681	0.0004	0	0.0002	0	0	0.0002	0	0.0022	0.0003816	59	154602	rs200414040	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0020	0.0019	2.987e-05	0.0001	3.826e-05	0	0.0002	0.0026	9.622e-05	0.0004	0.0023	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	9.695e-05	0.0014	0.0011	0	0	6.533e-05	0	0	0	0	0.0002	0	0.0025	0.037	0.43085	D	0.065	0.52060	T	0.971	0.57185	D	0.302	0.41118	B	0.000064	0.52346	D	0.165528	0.999986	0.18198	N	1.445	0.36358	L	.	.	.	-1.28	0.34596	N	0.348	0.38950	-1.0457	0.15621	T	0.065	0.26983	T	9	0.019372523	0.00432	T	0.007209	0.19116	T	0.083	0.24192	.	.	0.262679179196	0.25893	0.18010148591389805	0.17929	1.04843531002	0.76047	0.504908204079	0.39512	T	0.052901	0.29294	T	-0.431787	0.01446	T	-0.398867	0.33515	T	0.0314689681577452	0.02221	T	0.951205	0.81406	D	0.07228108	0.16068	0.1244334	0.29992	0.07228108	0.16067	0.1244334	0.29992	-5.103	0.37939	T	.	.	0.076	0.08417	B	.;.	.;.	2.721290	0.35591	19.94	0.99664954574020737	0.78202	0.29606	0.23866	N	AEFDBI	0.355816	0.44741	N	-0.252262292040224	0.31014	1.73485	-0.339918181000423	0.26823	1.484103	0.950456832868798	0.27896	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.7	3.79	0.42757	0.963000	0.28890	1.688000	0.28053	0.524000	0.24156	0.675000	0.28393	0.953000	0.29079	0.058000	0.15825	0.1274:0.6607:0.2119:0.0	11.118	0.47495	83	0.96533	Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1069.33	34	chr10	103570968	.	C	T	1069.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=725;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.503;SOR=0.775	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1083,0,1461	18	0	1	0
chr10	103889105	103889105	G	A	exonic	STN1	.	nonsynonymous SNV	STN1:NM_024928:exon9:c.C916T:p.R306W	Cerebroretinal microangiopathy with calcifications and cysts 2, Autosomal recessive	428	1091	3	0	0	3	0.001373	.	.	.	1356089	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0195685306628	.	.	4.12e-05	0	0	0	0	4.498e-05	0	0.0001	5.17e-05	8	154602	rs753557631	3.695e-05	3.899e-05	3.541e-05	3.852e-05	0.0007	2.895e-05	2.593e-05	0.0002	0.0001	5.976e-05	0	0	0	0	0.0007	2.699e-05	4.969e-05	0.0002	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	0.015	0.52492	D	0.009	0.66756	D	0.993	0.65571	D	0.663	0.52893	P	0.810209	0.06822	N	1.088330	1	0.08975	N	2.015	0.55033	M	0.89	0.45636	T	-1.44	0.35399	N	0.275	0.31140	-1.0040	0.28755	T	0.118	0.41495	T	10	0.19341093	0.35109	T	0.019569	0.41966	T	0.093	0.26882	0.459	0.52590	0.263140351381	0.25927	0.32311268730087256	0.32224	0.147590502323	0.16655	0.184596076608	0.00144	T	0.023819	0.18113	T	-0.349839	0.04737	T	-0.465996	0.25950	T	0.212365135550499	0.21076	T	0.837516	0.51030	T	0.095680796	0.22522	0.04831346	0.07148	0.095680796	0.22522	0.04831346	0.07147	-4.161	0.26185	T	0.6382526827481815	0.70859	0.100	0.17615	B	.;.	.;.	3.187253	0.43288	21.7	0.99572572862046138	0.72501	0.11638	0.16765	N	AEFBHCI	0.205877	0.33219	N	-0.4367856462453	0.24191	1.304425	-0.59337799902437	0.19665	1.056091	0.999999999370798	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.25	2.06	0.25932	0.999000	0.29358	2.286000	0.31928	-0.148000	0.12190	0.059000	0.21734	0.940000	0.28757	0.516000	0.29383	0.0976:0.1331:0.4614:0.3079	2.709	0.04849	114	0.95383	Stn1, C-terminal;Stn1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	809.33	37	chr10	103889105	.	G	A	809.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.008;DP=689;ExcessHet=0;FS=3.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.179;SOR=1.043	GT:AD:DP:GQ:PL	0/1:29,34:63:99:823,0,666	18	0	1	0
chr10	122083955	122083955	C	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.C1455A:p.D485E,TACC2:NM_001291877:exon4:c.C1455A:p.D485E,TACC2:NM_206862:exon4:c.C1455A:p.D485E	.	415	1056	46	5	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0022	0.00299521	0.0037	0.0007	0.0031	0.0001	0.0003	0.0034	0.0055	0.0104	0.0034864	539	154602	rs145676536	0.0033	0.0033	0.0030	0.0036	0.0120	0.0033	0.0032	0.0097	0.0090	0.0004	0.0028	0.0007	7.557e-05	0.0005	0.0120	0.0032	0.0033	0.0098	0.0025	0.0025	0.0023	0.0026	0.0110	0.0023	0.0022	0.0087	0.0078	0.0007	0	0.0020	0.0003	0.0002	0.0005	0.0068	0.0035	0.0057	0.0110	0.008	0.58626	D	0.126	0.35205	T	0.002	0.09854	B	0.002	0.06944	B	0.262279	0.15291	N	0.547859	1	0.08975	N	0.345	0.11182	N	4.17	0.02815	T	-0.1	0.08495	N	0.031	0.02366	-0.9281	0.44415	T	0.004	0.01192	T	10	0.0039937794	0.00077	T	.	.	.	0.089	0.25827	0.104	0.01698	0.458734620958	0.45498	0.030146240398800345	0.02963	0.0937766726545	0.10591	0.249824970961	0.03749	T	0.015022	0.12680	T	-0.725202	0.00026	T	-0.807087	0.01731	T	0.00369449383288313	0.00039	T	0.534247	0.17838	T	0.067040615	0.14481	0.0355286	0.02821	0.067040615	0.14480	0.0355286	0.02820	-2.931	0.09457	T	.	.	0.182	0.39545	B	.;.;.;.;.	.;.;.;.;.	0.702582	0.10711	7.406	0.93754106037824991	0.23697	0.12649	0.17397	N	AEFDBI	.	.	.	-0.892877548156124	0.11010	0.529115	-0.868507421659128	0.12844	0.6630197	0.614784024267148	0.21834	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.13	2.09	0.26154	-0.185000	0.09679	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1566:0.5969:0.1531:0.0934	4.328	0.10488	944	0.12746	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.005435	0.008772	0.000000	0.000000	0.009146	0.041667	0.07895	8027.77	82	chr10	122083955	.	C	A	8027.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.64;DP=1342;ExcessHet=0;FS=3.038;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=20.96;ReadPosRankSum=-0.239;SOR=0.866	GT:AD:DP:GQ:PL	1/1:1,172:173:99:5394,506,0	17	1	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,30:117:99:0|1:124989533_G_A:886,0,3389:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:106,21:127:99:290,0,3551	2	0	17	0
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	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,8:111:26:0|1:124994489_T_G:26,0,4225:124994489	3	0	16	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	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,11:118:99:0|1:124994489_T_G:127,0,4444:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,12:117:99:0|1:124994489_T_G:165,0,4327:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,17:122:99:0|1:124994523_G_A:383,0,4267:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:102,20:122:99:252,0,2931	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:95,21:116:99:223,0,2827	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,22:124:99:0|1:124994577_C_A:611,0,4031:124994577	0	0	19	0
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:173,61:342:99:.:.:2016,0,7221:.	9	0	9	1
chr11	1084298	1084298	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.352e-05	0	0.0005	0	0	3.241e-05	0	0.0001	3.88e-05	6	154602	rs751327313	4.483e-05	4.788e-05	5.07e-05	3.888e-05	9.175e-05	3.604e-05	3.284e-05	3.356e-05	2.968e-05	6.039e-05	9.175e-05	0	0	0	0	4.334e-05	0.0001	3.581e-05	4.597e-05	4.593e-05	2.57e-05	6.715e-05	2.406e-05	2.108e-05	1.526e-05	.	.	2.406e-05	0	0	0	0	0	0	1.471e-05	0.0024	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	924.33	35	chr11	1084298	.	C	T	924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.615;DP=723;ExcessHet=0;FS=1.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=1.61;SOR=0.796	GT:AD:DP:GQ:PL	0/1:49,45:94:99:938,0,998	18	0	1	0
chr11	1090891	1090891	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	369	1152	1	0	0	1	0.000433839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	8.3e-05	0	0	0.0002	0	8.219e-05	0	0.0001	7.12e-05	11	154602	rs200982345	5.617e-05	5.609e-05	5.042e-05	6.198e-05	0.0005	4.616e-05	4.242e-05	0.0003	0.0003	0	0	3.837e-05	0.0005	1.895e-05	0	3.419e-05	1.657e-05	0.0002	2.627e-05	2.624e-05	2.57e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.941e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1935.33	39	chr11	1090891	.	C	T	1935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.517;DP=948;ExcessHet=0;FS=3.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.631;SOR=0.995	GT:AD:DP:GQ:PL	0/1:78,81:159:99:1949,0,1763	18	0	1	0
chr11	1096142	1096142	C	0	exonic	MUC2	.	.	.	.	488	947	10	0	77	87	0.0052521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	816.39	440	chr11	1096142	.	C	*	816.39	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.868;DP=7900;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1875;MLEAC=4;MLEAF=0.118;MQ=56.6;MQRankSum=-1.136;QD=0.44;ReadPosRankSum=1.89;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:510,131:641:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:3014,0,20093:1096141	13	0	4	2
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	16077.3	440	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	16077.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.72;DP=9243;ExcessHet=8.9063;FS=1.137;InbreedingCoeff=-0.4074;MLEAC=5;MLEAF=0.132;MQ=56.91;MQRankSum=-3.717;QD=4.25;ReadPosRankSum=-1.447;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:332,133:551:99:.:.:3013,0,21292:.	14	0	5	0
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,225:554:99:0|1:1096152_TCACCACCACCA_*:7491,0,12454:1096152	9	0	10	0
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	5030.81	440	chr11	1096180	.	C	*	5030.81	.	AC=8;AF=0.333;AN=24;BaseQRankSum=0.917;DP=8171;ExcessHet=6.9875;FS=1.141;InbreedingCoeff=-0.551;MLEAC=10;MLEAF=0.417;MQ=55.72;MQRankSum=-4.128;QD=1.58;ReadPosRankSum=0.461;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,86:548:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2682,0,12848:1096141	4	0	8	7
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1705.26	440	chr11	1096181	.	C	*	1705.26	.	AC=6;AF=0.214;AN=28;BaseQRankSum=0.922;DP=7954;ExcessHet=2.9153;FS=1.896;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.25;MQ=55.19;MQRankSum=-3.126;QD=0.71;ReadPosRankSum=1.32;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,86:548:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2682,0,12848:1096141	8	0	6	5
chr11	1096182	1096182	C	0	exonic	MUC2	.	.	.	.	522	823	174	0	3	177	0.0956044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1918.01	440	chr11	1096182	.	C	*	1918.01	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-3.937;DP=7957;ExcessHet=2.9153;FS=1.867;InbreedingCoeff=-0.3103;MLEAC=7;MLEAF=0.233;MQ=56.52;MQRankSum=2.34;QD=0.79;ReadPosRankSum=1.24;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,86:548:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2682,0,12848:1096141	9	0	6	4
chr11	1096199	1096199	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1364	1971.24	440	chr11	1096199	.	C	*	1971.24	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-0.773;DP=7095;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2667;MLEAC=4;MLEAF=0.182;MQ=56.71;MQRankSum=2.61;QD=1.37;ReadPosRankSum=1.44;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,86:548:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2682,0,12848:1096141	8	0	3	8
chr11	1096203	1096203	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1903.63	440	chr11	1096203	.	C	*	1903.63	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.724;DP=7076;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.25;MQ=56.72;MQRankSum=2.71;QD=1.33;ReadPosRankSum=1.05;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,86:548:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2682,0,12848:1096141	7	0	3	9
chr11	1096204	1096204	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1953.89	440	chr11	1096204	.	C	*	1953.89	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.954;DP=7094;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.167;MQ=56.69;MQRankSum=2.72;QD=1.36;ReadPosRankSum=1.26;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,86:548:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2682,0,12848:1096141	9	0	3	7
chr11	1096205	1096205	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1953.89	440	chr11	1096205	.	C	*	1953.89	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.887;DP=7089;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.167;MQ=56.78;MQRankSum=2.75;QD=1.37;ReadPosRankSum=1.2;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,86:548:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2682,0,12848:1096141	9	0	3	7
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3229.97	460	chr11	1096211	.	A	*	3229.97	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-0.565;DP=7074;ExcessHet=4.3158;FS=1.16;InbreedingCoeff=-0.551;MLEAC=9;MLEAF=0.563;MQ=57.59;MQRankSum=-3.357;QD=1.21;ReadPosRankSum=0.115;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,86:548:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2682,0,12848:1096141	2	0	6	11
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1594.16	460	chr11	1096212	.	C	*	1594.16	.	AC=1;AF=0.25;AN=4;BaseQRankSum=2.12;DP=6955;ExcessHet=0.1259;FS=1.152;InbreedingCoeff=-0.3818;MLEAC=3;MLEAF=0.75;MQ=56.75;MQRankSum=-4.215;QD=2.37;ReadPosRankSum=8.2;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,86:548:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2682,0,12848:1096141	1	0	1	17
chr11	1621998	1621998	G	0	exonic	KRTAP5-4	.	.	.	.	590	340	341	209	42	801	0.52745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	32794.5	129	chr11	1621998	.	G	*	32794.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.427;DP=2168;ExcessHet=10.2499;FS=3.331;InbreedingCoeff=-0.4319;MLEAC=1;MLEAF=0.026;MQ=59.67;MQRankSum=-0.106;QD=16.93;ReadPosRankSum=0.135;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,14:55:99:0|1:1621994_CGG_C:425,0,1425:1621994	18	0	1	0
chr11	1630139	1630139	T	G	exonic	KRTAP5-5	.	nonsynonymous SNV	KRTAP5-5:NM_001001480:exon1:c.T299G:p.V100G	.	.	.	.	.	.	.	.	.	.	.	3455936	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.122	0.00185128734044	.	.	8.394e-06	0	8.643e-05	0	0	0	0	0	.	.	.	rs748765927	6.855e-07	6.841e-07	1.364e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	7.05e-06	1.342e-05	1.372e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	0.043	0.41364	D	0.336	0.18232	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.529808	0.31966	D	-2.29	0.00100	N	5.44	0.00979	T	-0.71	0.20145	N	0.076	0.05037	-0.9813	0.34701	T	0.001	0.00348	T	9	0.032355547	0.01385	T	0.001851	0.03219	T	0.122	0.33800	0.142	0.04556	0.159798565429	0.15598	0.12954982240460824	0.12879	0.24825362791	0.27384	.	.	.	0.005144	0.04581	T	-0.288388	0.09799	T	-0.652026	0.08813	T	0.0375047667930639	0.03244	T	.	.	.	0.07153162	0.15843	0.10099646	0.24165	0.07153162	0.15842	0.10099646	0.24164	1.261	0.00103	T	.	.	0.058	0.00693	B	.	.	0.643164	0.10115	6.862	0.36397707721310113	0.02339	0.00402	0.02007	N	AEFBI	0.018273	0.00542	N	-1.4146576451358	0.02510	0.1109193	-1.24819120482221	0.05158	0.2451001	0.00501168106901939	0.10797	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.48	2.54	0.29674	1.092000	0.30538	-0.001000	0.13204	-0.236000	0.07595	0.272000	0.25065	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.7909:0.2091	9.789	0.39862	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	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	307.33	72	chr11	1630139	.	T	G	307.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=1581;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.52;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.764;SOR=1.148	GT:AD:DP:GQ:PL	0/1:24,10:35:99:321,0,1147	18	0	1	0
chr11	1747981	1747981	C	T	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.G223A:p.A75T	.	399	1109	14	0	0	14	0.0062724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.192222550742	.	0.00179712	0.0038	0	0	0	0	0.0055	0	0.0074	0.0004786	74	154602	rs555924410	0.0015	0.0014	0.0014	0.0015	0.0114	0.0014	0.0014	0.0091	0.0083	0.0001	0.0016	0.0157	0	2.665e-05	0.0114	0.0012	0.0020	0.0025	0.0016	0.0016	0.0017	0.0016	0.0025	0.0015	0.0014	0.0019	0.0016	0.0002	0	0.0025	0.0170	0	0.0002	0.0034	0.0018	0.0038	0.0023	0.074	0.34621	T	0.0	0.92824	D	.	.	.	.	.	.	0.424802	0.04670	U	2.125080	0.959558	0.26181	N	0.345	0.11182	N	0.63	0.53088	T	-0.84	0.22944	N	0.187	0.20395	-0.9415	0.42378	T	0.098	0.36625	T	8	0.006131977	0.00138	T	0.192223	0.86231	D	0.196	0.47777	0.188	0.09776	0.198526703765	0.19489	0.2268490250920091	0.22599	.	.	0.868384480476	0.92337	D	0.018235	0.14734	T	-0.400167	0.02309	T	-0.353447	0.38809	T	0.0692741705061364	0.08549	T	0.732927	0.34859	T	0.11248071	0.26573	0.1250269	0.30128	0.11248071	0.26573	0.1250269	0.30128	-4.162	0.26199	T	.	.	0.110	0.51463	B	.;.;.	.;.;.	3.168099	0.42956	21.6	0.99425563736679046	0.63984	0.55000	0.29755	D	AEFDBHCI	0.153518	0.27839	N	-0.0788444211261278	0.38320	2.242646	-0.0503709773117877	0.37474	2.194638	0.999998474833814	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	1.737000	0.37821	2.954000	0.35726	0.463000	0.21641	0.844000	0.30348	0.996000	0.32793	0.991000	0.66497	0.0:0.8792:0.0:0.1208	7.865	0.28698	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011236	0.010638	0.015038	0.024038	0.000000	0.000000	0.009174	0.000000	0.02632	905.33	33	chr11	1747981	.	C	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=726;ExcessHet=0;FS=3.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-0.098;SOR=1.108	GT:AD:DP:GQ:PL	0/1:60,36:96:99:919,0,1479	18	0	1	0
chr11	1750442	1750443	TC	-	exonic	IFITM10	.	stoploss	IFITM10:NM_001170820:exon1:c.1_687del:p.E1_R50delinsKVRDKKLLNDLNGAVEDAKTARLFNITSSALAASCIILVFIFLRYPLTDY*	.	428	1080	13	1	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0033	0.0011	0	0	0	0.0066	0	0.0025	0.0003458	9	26028	rs576976576	0.0015	0.0014	0.0014	0.0016	0.0116	0.0015	0.0014	0.0093	0.0085	0.0002	0.0012	0.0155	0	4.153e-05	0.0116	0.0012	0.0023	0.0025	0.0016	0.0016	0.0017	0.0016	0.0024	0.0015	0.0014	0.0018	0.0016	0.0001	0	0.0024	0.0170	0	0.0002	0.0034	0.0018	0.0039	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009375	0.010638	0.023585	0.024272	0.000000	0.000000	0.000000	0.000000	0.02632	1288.29	43	chr11	1750441	.	ATC	A	1288.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=798;ExcessHet=0;FS=2.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.887;SOR=1.085	GT:AD:DP:GQ:PL	0/1:56,38:94:99:1302,0,2019	18	0	1	0
chr11	1853181	1853181	C	T	exonic	LSP1	.	nonsynonymous SNV	LSP1:NM_002339:exon1:c.C37T:p.R13W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00511817700841	.	.	9.057e-05	0	0	0	0	0.0002	0	0	5.82e-05	9	154602	rs148966414	3.839e-05	3.899e-05	3.819e-05	3.859e-05	3.059e-05	3.032e-05	2.725e-05	2.202e-05	1.943e-05	0	0	0.0008	0	1.905e-05	0	3.059e-05	0	1.167e-05	3.941e-05	3.938e-05	5.142e-05	2.686e-05	0.0002	1.715e-05	1.129e-05	.	.	2.408e-05	0	6.537e-05	0.0006	0.0002	0	0	1.47e-05	0	0	0.029	0.45756	D	0.182	0.29249	T	0.997	0.70673	D	0.551	0.49270	P	.	.	.	.	0.998937	0.21783	N	1.39	0.34934	L	1.96	0.22270	T	-1.09	0.28290	N	0.203	0.22486	-1.0890	0.05701	T	0.037	0.15856	T	9	0.051110446	0.04943	T	0.005118	0.13001	T	0.160	0.41473	.	.	0.395441342475	0.39163	.	.	.	.	.	.	.	0.173826	0.52283	T	-0.36705	0.03746	T	-0.58225	0.14344	T	0.112990879643851	0.13731	T	0.707329	0.31793	T	0.061013512	0.12586	0.07200956	0.15486	0.061013512	0.12585	0.07200956	0.15485	-5.664	0.43372	T	.	.	0.158	0.34949	B	.	.	3.480706	0.48608	22.6	0.90974812424264817	0.20224	0.68801	0.33940	D	ALL	0.310919	0.41680	N	-0.37639897532882	0.26312	1.43508	-0.46766640490736	0.23050	1.255042	0.999999996622929	0.74766	0.517182	0.21443	0	0.52208	0.09955	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	2.5	1.58	0.22557	0.431000	0.21163	2.324000	0.32153	-0.178000	0.10482	0.053000	0.21524	0.981000	0.30433	0.023000	0.12082	0.2823:0.7177:0.0:0.0	6.670	0.22251	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	.	.	.	.	.	.	.	.	0.02632	972.33	38	chr11	1853181	.	C	T	972.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.226;DP=777;ExcessHet=0;FS=0.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.12;SOR=0.88	GT:AD:DP:GQ:PL	0/1:42,39:81:99:986,0,1042	18	0	1	0
chr11	5507962	5507962	C	T	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.G1597A:p.V533I,UBQLN3:NM_017481:exon2:c.G1597A:p.V533I	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	.	0.00219649	0.0010	0	0	0.0138	0	0	0	0	0.0009056	140	154602	rs2234454	0.0005	0.0005	0.0005	0.0004	0.0161	0.0004	0.0004	0.0151	0.0147	0	0	0	0.0161	0	0	6.295e-06	0.0003	0	0.0005	0.0005	0.0005	0.0005	0.0135	0.0004	0.0004	0.0110	0.0100	0	0	0	0	0.0135	0	0	1.47e-05	0.0005	0	0.303	0.14352	T	0.355	0.17217	T	0.0	0.02946	B	0.0	0.01387	B	0.701609	0.06206	N	1.187370	1	0.81001	D	0.06	0.08197	N	1.31	0.35405	T	-0.81	0.22294	N	0.022	0.00372	-0.9826	0.34398	T	0.013	0.05177	T	10	0.0061429143	0.00138	T	.	.	.	0.092	0.26621	.	.	0.176091768786	0.17195	0.2999963947431775	0.29912	0.0171003749232	0.01654	0.290654122829	0.09017	T	0.002845	0.02237	T	-0.697667	0.00038	T	-0.759332	0.03136	T	0.0279183450622305	0.01677	T	0.649435	0.26018	T	0.031264946	0.02936	0.036602594	0.03140	0.031264946	0.02936	0.036602594	0.03139	-2.727	0.07532	T	.	.	0.064	0.01738	B	.	.	0.055461	0.04680	1.325	0.7779994072647004	0.12028	0.08258	0.14210	N	AEFBCI	0.055820	0.10270	N	-1.63920999232456	0.01081	0.04693125	-1.57877402976976	0.01785	0.0812608	0.999999820254526	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.87	-8.34	0.00866	0.496000	0.22207	.	.	-1.580000	0.00921	0.993000	0.37899	0.915000	0.28207	0.241000	0.23027	0.0:0.5073:0.1142:0.3785	9.842	0.40170	682	0.59757	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1692.33	97	chr11	5507962	.	C	T	1692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.943;DP=1917;ExcessHet=0;FS=2.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.81;SOR=0.968	GT:AD:DP:GQ:PL	0/1:64,64:128:99:1706,0,1766	18	0	1	0
chr11	5986122	5986122	T	C	exonic	OR52L1	.	nonsynonymous SNV	OR52L1:NM_001005173:exon1:c.A809G:p.Y270C	.	.	.	.	.	.	.	.	.	.	.	2228888	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.00474119017537	0.0004	0.000599042	0.0002	0.0011	0.0002	0	0	0.0002	0	6.057e-05	0.0002393	37	154602	rs201434641	0.0002	0.0002	0.0002	0.0001	0.0023	0.0001	0.0001	0.0013	0.0011	0.0016	0.0006	0.0011	0	0	0.0023	6.026e-05	0.0004	2.319e-05	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0005	0.0020	0	0	0	0.0001	0	0	0.004	0.65419	D	0.003	0.76473	D	.	.	.	.	.	.	0.001296	0.39521	N	0.000000	0.663413	0.33074	D	.	.	.	0.99	0.41750	T	-8.85	0.97861	D	0.296	0.33469	0.137	0.84832	D	0.356	0.71842	T	10	0.08534023	0.14398	T	0.004741	0.11816	T	0.221	0.51721	.	.	0.737481597395	0.73513	0.38843061793413386	0.38758	0.276762445521	0.30141	0.295639932156	0.09752	T	.	.	.	-0.348148	0.04844	T	-0.329215	0.41556	T	0.158278480823127	0.17744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18950	B	.	.	3.458634	0.48198	22.6	0.99651131195366927	0.77317	0.55637	0.29914	D	AEFBI	0.276802	0.39146	N	0.314526592986992	0.56894	3.854924	0.0947498287927071	0.44283	2.713163	1.36653978891631E-4	0.05486	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	0.148000	0.16042	.	.	0.502000	0.22824	0.045000	0.21207	0.000000	0.08366	0.145000	0.20128	0.0:0.0:0.0:1.0	11.944	0.52201	795	0.45444	.	.	.	.	.	.	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	0.003021	0.000000	0.004076	0.005848	0.100000	0.000000	0.000000	0.000000	0.02632	2390.33	33	chr11	5986122	.	T	C	2390.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.03;DP=1157;ExcessHet=0;FS=4.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.93;SOR=0.425	GT:AD:DP:GQ:PL	0/1:81,82:163:99:2404,0,2159	18	0	1	0
chr11	6509068	6509068	G	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_173589:exon4:c.G1109T:p.R370L,DNHD1:NM_144666:exon5:c.G1109T:p.R370L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0129241937855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.53900	D	0.003	0.76473	D	0.9	0.49598	P	0.402	0.47859	B	0.196527	0.16709	N	0.523957	0.839009	0.28657	N	2.655	0.77738	M	2.33	0.16492	T	-2.33	0.80682	N	0.548	0.60410	-1.0491	0.14649	T	0.065	0.26948	T	10	0.3804476	0.54154	T	0.012924	0.31907	T	0.191	0.46948	0.689	0.82653	0.361558571881	0.35766	0.43025969444332973	0.42942	0.510397358846	0.49155	0.397441238165	0.24713	T	0.011268	0.10074	T	-0.108544	0.35008	T	-0.393693	0.34120	T	0.956512928009033	0.64776	D	0.673733	0.29630	T	0.094942905	0.22334	0.13419366	0.32161	0.094942905	0.22334	0.13419366	0.32160	-5.767	0.44286	T	.	.	0.295	0.57658	B	.;.;.	.;.;.	3.181240	0.43184	21.7	0.99483049708236448	0.67014	0.84154	0.43238	D	AEFBI	0.126628	0.24365	N	0.326888884052545	0.57533	3.920906	0.33405038214479	0.57551	3.921333	0.899001518229282	0.26040	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.508809	0.08732	0	.	.	5.47	4.54	0.55220	1.811000	0.38580	2.988000	0.35869	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0943:0.0:0.9057:0.0	10.713	0.45194	458	0.78890	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2376.33	40	chr11	6509068	.	G	T	2376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.788;DP=892;ExcessHet=0;FS=0.562;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=1.1;SOR=0.775	GT:AD:DP:GQ:PL	0/1:82,90:172:99:2390,0,2034	18	0	1	0
chr11	6601432	6601432	G	C	exonic	RRP8	.	nonsynonymous SNV	RRP8:NM_015324:exon3:c.C634G:p.P212A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00302570004962	.	.	3.328e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs757940157	4.105e-06	4.104e-06	6.807e-06	1.375e-06	5.038e-05	1.48e-06	9.7e-07	8.35e-06	3.12e-06	0	0	3.826e-05	5.038e-05	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.228	0.25286	T	0.0	0.02946	B	0.001	0.04355	B	0.944682	0.08329	N	0.972095	1	0.08975	N	1.355	0.33814	L	1.54	0.30133	T	-0.29	0.11728	N	0.201	0.22228	-1.0173	0.24592	T	0.061	0.25635	T	10	0.036837935	0.02003	T	0.003026	0.06487	T	0.025	0.05312	0.185	0.09388	0.187945064343	0.18414	0.14157296831866106	0.14080	0.0168008896403	0.01628	0.275844097137	0.06920	T	0.003229	0.02636	T	-0.453514	0.01077	T	-0.58035	0.14513	T	0.0244312223110807	0.01200	T	0.50435	0.15896	T	0.025789086	0.01557	0.022275995	0.00256	0.025789086	0.01556	0.022275995	0.00256	-3.307	0.13828	T	.	.	0.052	0.00207	B	.	.	0.083449	0.04887	1.474	0.48232481328269289	0.04008	0.20131	0.20926	N	AEFBCI	0.094398	0.19087	N	-1.17321206744653	0.05408	0.2464701	-1.20682214406593	0.05800	0.2773652	0.999679063865011	0.41644	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.55	-1.49	0.08259	-0.201000	0.09466	1.571000	0.27417	-0.227000	0.07798	0.000000	0.06391	0.761000	0.26624	0.002000	0.04165	0.1498:0.27:0.3299:0.2502	1.674	0.02648	489	0.76795	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1488.33	60	chr11	6601432	.	G	C	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.677;DP=933;ExcessHet=0;FS=1.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.221;SOR=0.543	GT:AD:DP:GQ:PL	0/1:44,62:106:99:1502,0,1134	18	0	1	0
chr11	6603474	6603474	G	C	exonic	RRP8	.	nonsynonymous SNV	RRP8:NM_015324:exon1:c.C29G:p.A10G	.	434	1076	11	1	0	13	0.00600462	.	.	.	3316712	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0106872314521	.	0.000199681	0.0007	0	0.0002	0.0005	0	0.0005	0	0.0018	0.0003169	49	154602	rs542041353	0.0003	0.0003	0.0002	0.0003	0.0030	0.0003	0.0003	0.0018	0.0014	0	0.0001	0	7.68e-05	0	0.0030	0.0002	0.0005	0.0014	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	0	0	6.531e-05	0.0003	0	0	0	0.0003	0.0009	0.0008	0.1	0.43393	T	0.35	0.17478	T	0.543	0.37944	P	0.241	0.38645	B	0.698322	0.06187	N	1.158960	0.994763	0.23448	N	1.65	0.42232	L	1.43	0.32958	T	-0.27	0.30346	N	0.14	0.15328	-1.0117	0.26385	T	0.086	0.33438	T	10	0.018948495	0.00417	T	0.010687	0.27515	T	0.064	0.18567	.	.	0.668583955689	0.66578	0.06075885065073509	0.06015	0.0458377948792	0.04975	0.46630936861	0.34175	T	0.007719	0.07108	T	-0.521938	0.00429	T	-0.552583	0.17078	T	0.13447537203079	0.15789	T	0.782522	0.41827	T	0.079744875	0.18234	0.11065037	0.26682	0.079744875	0.18234	0.11065037	0.26681	-4.937	0.36148	T	.	.	0.082	0.08948	B	.;.	.;.	2.971349	0.39600	21.0	0.99126099819066571	0.53116	0.16453	0.19396	N	ALL	0.231452	0.35467	N	-0.126302573242742	0.36250	2.092785	-0.02664300404489	0.38515	2.270289	0.999999999999637	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.71	3.67	0.41236	1.187000	0.31699	5.312000	0.48266	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:0.0:0.3919:0.6081	7.982	0.29353	493	0.76500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001013	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.003788	0.02632	374.33	36	chr11	6603474	.	G	C	374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.251;DP=698;ExcessHet=0;FS=1.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-0.857;SOR=1.021	GT:AD:DP:GQ:PL	0/1:11,15:26:99:388,0,262	18	0	1	0
chr11	6627536	6627536	G	A	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon14:c.C5503T:p.L1835F	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	752837	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.00962485132644	0.0005	0.000199681	0.0008	0.0001	9.675e-05	0	0.0028	0.0011	0	0	0.0006533	101	154602	rs148791938	0.0008	0.0008	0.0008	0.0009	0.0009	0.0008	0.0008	0.0009	0.0008	2.989e-05	6.725e-05	0.0018	0	0.0021	0.0002	0.0009	0.0007	0	0.0010	0.0010	0.0008	0.0012	0.0018	0.0009	0.0008	0.0015	0.0014	4.812e-05	0	6.533e-05	0.0020	0	0.0023	0	0.0018	0	0	0.09	0.31987	T	0.038	0.51421	D	0.989	0.62824	D	0.913	0.64886	D	0.020608	0.27003	N	0.177034	0.999893	0.50595	D	2.235	0.63160	M	0.5	0.55608	T	-2.41	0.52938	N	0.411	0.45142	-0.8304	0.53276	T	0.244	0.61213	T	10	0.026997656	0.00854	T	0.009625	0.25153	T	0.254	0.56428	.	.	0.469615867019	0.46589	0.12228668963693577	0.12155	0.42016348783	0.42545	0.367169201374	0.20424	T	0.256173	0.62705	T	-0.329979	0.06113	T	-0.245815	0.50229	T	0.044189572766639	0.04455	T	0.715028	0.32735	T	0.123993136	0.29103	0.1521864	0.35816	0.123993136	0.29102	0.1521864	0.35815	-9.2	0.68974	D	.	.	0.148	0.32804	B	.	.	4.838064	0.78954	27.0	0.99735491695492351	0.83119	0.97106	0.72724	D	AEFDGBI	0.769192	0.70452	D	0.621659986741926	0.74547	6.151175	0.648306320529378	0.78483	6.885735	0.999999999155847	0.74766	0.706548	0.73137	0	0.681609	0.65952	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	7.730000	0.83827	9.976000	0.82893	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1507:0.8492:0.0	14.043	0.64208	261	0.89765	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1459.33	56	chr11	6627536	.	G	A	1459.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.224;DP=941;ExcessHet=0;FS=3.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-0.295;SOR=0.394	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1473,0,1400	18	0	1	0
chr11	6876908	6876908	C	G	exonic	OR10A4	.	nonsynonymous SNV	OR10A4:NM_207186:exon1:c.C261G:p.I87M	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00380090719506	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs548971943	7.935e-05	7.935e-05	6.534e-05	9.35e-05	0.0010	6.733e-05	6.267e-05	0.0005	0.0003	0	0	0	0	0	0.0010	5.396e-05	0.0001	0.0005	5.251e-05	5.249e-05	6.423e-05	4.027e-05	0.0006	2.555e-05	1.828e-05	0.0002	9e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0.0006	0.093	0.31532	T	0.127	0.35082	T	0.035	0.20614	B	0.027	0.21085	B	0.088535	0.20475	N	0.363076	0.999997	0.08975	N	0.325	0.10370	N	4.32	0.02387	T	0.61	0.02480	N	0.095	0.07535	-0.9461	0.41632	T	0.005	0.01761	T	10	0.02061972	0.00478	T	0.003801	0.08868	T	0.025	0.05312	0.354	0.35408	0.141422826196	0.13715	0.051021242013454135	0.05044	0.0176999657685	0.01731	0.358888506889	0.19224	T	0.033871	0.23092	T	-0.519858	0.00441	T	-0.673998	0.07354	T	0.0663506363441327	0.08129	T	0.0169983	0.00095	T	0.058571313	0.11798	0.04872002	0.07297	0.058571313	0.11798	0.04872002	0.07297	-4.996	0.36797	T	.	.	0.084	0.09723	B	.	.	0.024784	0.04457	1.178	0.40656127319225149	0.02883	0.00892	0.03507	N	AEFI	0.042933	0.06725	N	-1.53344817288909	0.01634	0.07143453	-1.54880935750902	0.01984	0.09063841	1.82612389854696E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.91	-2.01	0.07003	-2.666000	0.00919	-3.887000	0.02472	-1.921000	0.00507	0.000000	0.06391	0.000000	0.08366	0.112000	0.18829	0.5042:0.2206:0.1178:0.1574	2.337	0.03989	522	0.74218	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1802.33	33	chr11	6876908	.	C	G	1802.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.753;DP=748;ExcessHet=0;FS=1.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.25;SOR=0.548	GT:AD:DP:GQ:PL	0/1:73,65:138:99:1816,0,2036	18	0	1	0
chr11	6877558	6877558	G	A	exonic	OR10A4	.	nonsynonymous SNV	OR10A4:NM_207186:exon1:c.G911A:p.R304Q	.	437	1050	31	4	0	39	0.0182328	.	.	.	701948	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0019	0.00419329	0.0038	0.0004	0.0039	0.0002	0.0003	0.0028	0.0090	0.0130	0.0034799	538	154602	rs140094304	0.0032	0.0032	0.0028	0.0036	0.0133	0.0031	0.0031	0.0126	0.0124	0.0006	0.0030	0.0075	0.0034	0.0002	0.0115	0.0024	0.0046	0.0133	0.0023	0.0023	0.0022	0.0023	0.0141	0.0021	0.0020	0.0114	0.0104	0.0005	0	0.0013	0.0046	0.0014	9.422e-05	0.0102	0.0030	0.0028	0.0141	0.021	0.49117	D	0.028	0.54934	D	0.032	0.20242	B	0.048	0.24975	B	0.001120	0.40219	N	0.000000	0.999981	0.18198	N	2.18	0.61292	M	1.08	0.39401	T	-1.97	0.45587	N	0.211	0.23506	-0.9942	0.31512	T	0.073	0.29419	T	10	0.0038343966	0.00072	T	.	.	.	0.078	0.22779	.	.	0.549588557812	0.54614	0.19296126348470022	0.19214	0.0177326945437	0.01731	0.233257770538	0.02217	T	0.068145	0.33382	T	-0.500878	0.00565	T	-0.481222	0.24317	T	0.0305732570491084	0.02079	T	0.262774	0.04248	T	0.1980306	0.41691	0.16457327	0.38116	0.1980306	0.41691	0.16457327	0.38115	-7.314	0.56295	T	.	.	0.101	0.17360	B	.	.	2.456058	0.31631	18.80	0.99113194941154714	0.52776	0.02409	0.06817	N	AEFI	0.026738	0.02061	N	-0.542642696339605	0.20715	1.094059	-0.562350584301979	0.20478	1.103489	4.11080152104002E-4	0.06860	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.99	3.99	0.45527	-0.006000	0.12769	2.612000	0.33583	0.657000	0.54293	0.000000	0.06391	0.109000	0.22772	0.474000	0.28430	0.0:0.0:1.0:0.0	11.884	0.51869	522	0.74218	.	.	.	.	.	.	Likely benign	0	0	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	0.010070	0.000000	0.009511	0.011696	0.000000	0.008621	0.009146	0.026515	0.02632	776.33	40	chr11	6877558	.	G	A	776.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.385;SOR=0.844	GT:AD:DP:GQ:PL	0/1:28,28:56:99:790,0,759	18	0	1	0
chr11	7927779	7927779	C	T	exonic	OR10A6	.	nonsynonymous SNV	OR10A6:NM_001004461:exon1:c.G884A:p.S295N	.	.	.	.	.	.	.	.	.	.	.	2370547	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00583143946291	0.0010	0.000199681	0.0006	9.614e-05	0.0003	0	0.0006	0.0010	0	6.058e-05	0.0006986	108	154602	rs138423664	0.0015	0.0015	0.0015	0.0014	0.0018	0.0014	0.0014	0.0017	0.0017	0.0003	0.0004	0	0	0.0007	0	0.0018	0.0012	1.16e-05	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0013	0.0012	0.0004	0	0.0005	0	0	0.0005	0	0.0015	0.0005	0	.	.	.	.	.	.	0.003	0.11197	B	0.004	0.10090	B	0.002981	0.35639	N	0.123758	1	0.08975	N	-0.025	0.05070	N	.	.	.	.	.	.	.	.	-1.0664	0.10223	T	0.038	0.16333	T	10	0.0076756477	0.00174	T	0.005831	0.15161	T	.	.	.	.	.	.	0.07380859964195861	0.07317	.	.	0.189516663551	0.00216	T	4.36E-4	0.00146	T	-0.693432	0.00040	T	-0.765118	0.02932	T	0.00254364982875167	0.00026	T	.	.	.	0.04416177	0.07010	0.08708902	0.20219	0.04416177	0.07010	0.08708902	0.20219	-3.167	0.12082	T	.	.	0.090	0.13644	B	.;.;.	.;.;.	0.553415	0.09222	6.002	0.72832358702244626	0.10111	0.15899	0.19135	N	AEFDBHCIJ	0.033116	0.03868	N	-1.26197237966436	0.04144	0.1864641	-1.22527308832479	0.05506	0.2625442	0.877349312454729	0.25544	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.43	-2.78	0.05512	0.657000	0.24647	-1.545000	0.05202	-0.214000	0.08267	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.0:0.367:0.1334:0.4996	6.218	0.19880	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	.	.	.	.	.	.	.	.	0.02632	1290.33	35	chr11	7927779	.	C	T	1290.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.456;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.134;SOR=0.667	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1304,0,1030	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,47:210:99:0|1:56375918_A_G:1483,0,6703:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,47:210:99:0|1:56375918_A_G:1483,0,6703:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,47:210:99:0|1:56375918_A_G:1483,0,6703:56375918	2	0	16	1
chr11	57312547	57312547	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon5:c.G2141A:p.S714N	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0154362127319	0.0052	0.00159744	0.0049	0.0013	0.0011	0	0.0092	0.0070	0.0038	0.0007	0.0046054	712	154602	rs34203865	0.0061	0.0059	0.0062	0.0061	0.0069	0.0060	0.0060	0.0068	0.0067	0.0008	0.0012	0.0075	0	0.0086	0.0004	0.0069	0.0056	0.0008	0.0045	0.0045	0.0045	0.0044	0.0074	0.0042	0.0041	0.0068	0.0066	0.0015	0	0.0013	0.0063	0	0.0056	0	0.0074	0.0052	0.0006	0.068	0.35726	T	0.03	0.54159	D	0.827	0.45966	P	0.501	0.47677	P	0.840662	0.09036	N	0.908370	0.999999	0.08975	N	1.905	0.50856	L	1.4	0.33630	T	-0.56	0.17003	N	0.162	0.17002	-1.0580	0.12260	T	0.062	0.25923	T	10	0.004918486	0.00105	T	0.015436	0.36172	T	0.065	0.18881	.	.	0.419461527279	0.41563	0.15495293294528026	0.15416	0.227693720745	0.25324	0.487646669149	0.37112	T	0.00804	0.07400	T	-0.613244	0.00121	T	-0.64712	0.09157	T	0.0131064919793828	0.00230	T	0.562444	0.19755	T	0.06383329	0.13482	0.07313556	0.15859	0.06383329	0.13481	0.07313556	0.15858	-6.391	0.49440	T	.	.	0.116	0.23325	B	.;.	.;.	1.705409	0.21718	15.32	0.96198639903071426	0.29016	0.32682	0.24645	N	AEFDBHCI	0.079641	0.16089	N	-0.394464436777558	0.25664	1.394926	-0.505450368065768	0.22005	1.193105	0.999999999371283	0.74766	0.719381	0.83141	0	0.379588	0.06130	0	0.696144	0.63334	0	0.733575	0.97253	0	.	.	3.52	3.52	0.39415	0.598000	0.23774	0.612000	0.20040	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.0:1.0:0.0:0.0	12.083	0.52981	438	0.80235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05263	2530.81	33	chr11	57312547	.	C	T	2530.81	.	AC=2;AF=0.053;AN=38;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.04;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2558,236,0	18	1	0	0
chr11	64232457	64232457	C	T	exonic	DNAJC4	.	nonsynonymous SNV	DNAJC4:NM_001307980:exon3:c.C208T:p.P70S,DNAJC4:NM_001307981:exon3:c.C208T:p.P70S,DNAJC4:NM_005528:exon4:c.C208T:p.P70S	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.023731730792	.	0.00199681	0.0058	0.0022	0.0033	0	0.0025	0.0086	0.0060	0.0019	0.0057697	892	154602	rs199745306	0.0094	0.0094	0.0097	0.0090	0.0113	0.0092	0.0092	0.0112	0.0111	0.0015	0.0039	0.0027	2.539e-05	0.0027	0.0010	0.0113	0.0078	0.0019	0.0069	0.0069	0.0073	0.0065	0.0110	0.0066	0.0064	0.0104	0.0101	0.0020	0.0022	0.0097	0.0043	0	0.0018	0.0068	0.0110	0.0066	0.0033	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.000037	0.55875	D	0.124250	0.999968	0.81001	D	0.175	0.09039	N	1.6	0.28604	T	-5.23	0.83899	D	0.442	0.53445	-0.9944	0.31459	T	0.077	0.30798	T	10	0.0069697797	0.00158	T	0.023732	0.46702	T	0.274	0.59007	.	.	0.433269665224	0.42948	0.4101836193930648	0.40934	0.636145338307	0.57407	0.490828573704	0.37554	T	0.110152	0.42462	T	-0.451638	0.01105	T	-0.412128	0.31978	T	0.0337291168411911	0.02593	T	0.859214	0.55036	D	0.77296	0.82225	0.7564605	0.85607	0.77296	0.82227	0.7564605	0.85608	-5.38	0.40726	T	.	.	0.446	0.63466	A	.;.	.;.	4.642848	0.73929	26.1	0.99909064527550562	0.97875	0.94736	0.62153	D	AEFGBHCI	0.749271	0.69076	D	0.459290588826953	0.64732	4.73448	0.463856433323099	0.65611	4.84576	0.999999999975685	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.493711	0.08198	1	0.562822	0.20929	0	.	.	4.68	4.68	0.58319	3.381000	0.52188	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	13.472	0.60738	658	0.62094	DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain;DnaJ domain|DnaJ domain|DnaJ domain|DnaJ domain	ATL3|STIP1	Cells_Cultured_fibroblasts|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1707.33	33	chr11	64232457	.	C	T	1707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=702;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.33;ReadPosRankSum=0.188;SOR=0.511	GT:AD:DP:GQ:PL	0/1:29,55:84:99:1721,0,789	18	0	1	0
chr11	64320780	64320780	G	T	exonic	PRDX5	.	nonsynonymous SNV	PRDX5:NM_001358511:exon2:c.G291T:p.K97N,PRDX5:NM_001358516:exon3:c.G270T:p.K90N,PRDX5:NM_012094:exon3:c.G426T:p.K142N	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0021	0.00339457	0.0039	0.0010	0.0014	0	0.0073	0.0035	0.0022	0.0098	0.0036416	563	154602	rs142314160	0.0030	0.0030	0.0028	0.0033	0.0108	0.0030	0.0029	0.0090	0.0088	0.0006	0.0010	0.0129	0	0.0059	0.0108	0.0023	0.0038	0.0095	0.0024	0.0024	0.0023	0.0025	0.0081	0.0022	0.0021	0.0061	0.0054	0.0005	0	0.0012	0.0118	0	0.0062	0.0034	0.0025	0.0047	0.0081	0.999	0.01930	T	0.914	0.02926	T	0.0	0.02946	B	0.002	0.06944	B	0.931437	0.08418	N	0.970693	1	0.08975	N	0.135	0.08676	N	0.87	0.46412	T	1.04	0.01332	N	0.164	0.17278	-0.9995	0.30058	T	0.031	0.13286	T	10	0.0032073557	0.00054	T	.	.	.	0.042	0.11227	0.399	0.42753	0.162503812791	0.15892	0.7103360674987805	0.70975	0.135934299944	0.15331	0.306939780712	0.11444	T	0.10943	0.42330	T	-0.679651	0.00048	T	-0.741087	0.03845	T	0.00420612251847449	0.00045	T	0.867913	0.56927	D	0.19736712	0.41599	0.07585731	0.16741	0.19736712	0.41599	0.07585731	0.16741	-6.77	0.52336	T	.	.	0.130	0.27939	B	.	.	0.161592	0.05522	1.982	0.76430800272248767	0.11465	0.09661	0.15367	N	AEFGBCI	0.612336	0.60045	D	-1.39364366188361	0.02697	0.1194626	-1.4067633592384	0.03184	0.1480001	0.999999302266234	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.66	-6.13	0.01937	-2.215000	0.01306	-3.144000	0.03024	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.235:0.1233:0.4619:0.1798	3.077	0.05874	641	0.64016	Redoxin|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.017663	0.005848	0.000000	0.017241	0.015244	0.022727	0.1053	5064.43	113	chr11	64320780	.	G	T	5064.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.139;DP=910;ExcessHet=0.7564;FS=3.929;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=1.32;SOR=0.532	GT:AD:DP:GQ:PL	0/1:54,26:80:99:640,0,1561	15	0	4	0
chr11	64349373	64349373	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon15:c.C2659T:p.R887W	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.516876733271	.	0.00119808	0.0024	0.0008	0.0006	0	0.0079	0.0017	0.0024	0.0067	0.002044	316	154602	rs149017597	0.0021	0.0021	0.0020	0.0023	0.0058	0.0021	0.0020	0.0054	0.0052	0.0004	0.0004	0.0013	2.519e-05	0.0059	0.0055	0.0019	0.0021	0.0058	0.0016	0.0016	0.0014	0.0017	0.0035	0.0014	0.0013	0.0022	0.0018	0.0005	0	0.0007	0.0012	0	0.0062	0	0.0017	0.0028	0.0035	0.004	0.68238	D	0.005	0.76473	D	0.999	0.77913	D	0.857	0.61067	P	.	.	.	.	1	0.81001	D	1.545	0.39105	L	1.83	0.49068	T	-3.82	0.71997	D	0.752	0.75101	-0.6427	0.63030	T	0.231	0.59682	T	9	0.037271976	0.02071	T	0.516877	0.95387	D	0.160	0.41473	.	.	0.323615622048	0.31974	0.36906211240562814	0.36820	0.915477084203	0.71221	0.557792663574	0.46955	T	0.070985	0.34095	T	-0.40467	0.02157	T	-0.351445	0.39040	T	0.0280215886968209	0.01691	T	0.90391	0.66280	D	0.19918197	0.41847	0.1862546	0.41787	0.19918197	0.41847	0.1862546	0.41786	-8.788	0.66322	D	.	.	0.194	0.41511	B	.;.	.;.	4.666995	0.74550	26.2	0.99908491774259456	0.97875	0.44706	0.27377	N	AEFDGBI	0.288410	0.40031	N	0.309649060448982	0.56643	3.829295	0.208976877989693	0.50345	3.22753	0.999999733710105	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.68	3.68	0.41359	0.676000	0.24927	1.745000	0.28430	0.577000	0.29297	0.306000	0.25378	0.921000	0.28324	0.299000	0.24476	0.0:1.0:0.0:0.0	11.692	0.50783	534	0.73357	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009615	0.000000	0.009511	0.005952	0.000000	0.008621	0.009202	0.018939	0.1053	2899.43	55	chr11	64349373	.	C	T	2899.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.802;DP=837;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.75;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,19:45:99:0|1:64349371_A_C:417,0,611:64349371	15	0	4	0
chr11	64600740	64600740	C	T	exonic	SLC22A12	.	nonsynonymous SNV	SLC22A12:NM_001276327:exon7:c.C1076T:p.T359M,SLC22A12:NM_001276326:exon9:c.C1298T:p.T433M,SLC22A12:NM_144585:exon9:c.C1400T:p.T467M,SLC22A12:NM_153378:exon9:c.C737T:p.T246M	Hypouricemia, renal, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	868233	Dalmatian_hypouricemia|SLC22A12-related_disorder|not_provided	MONDO:MONDO:0020728,MedGen:C0473219,OMIM:220150|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.367	0.256691727966	7.7e-05	0.00179712	0.0014	0.0001	0.0003	0.0008	0	0.0002	0.0046	0.0081	0.0011513	178	154602	rs200104135	0.0005	0.0005	0.0004	0.0007	0.0058	0.0005	0.0005	0.0054	0.0052	0	0.0003	3.828e-05	0.0004	6.77e-05	0.0030	0.0002	0.0009	0.0058	0.0004	0.0004	0.0002	0.0007	0.0072	0.0003	0.0003	0.0054	0.0047	0.0002	0	6.532e-05	0	0.0012	0	0	0.0001	0.0019	0.0072	0.002	0.72154	D	0.076	0.59732	T	1.0	0.90584	D	0.88	0.76457	P	0.037096	0.24443	N	0.418990	0.597691	0.32511	D	2.13	0.59329	M	0.08	0.61559	T	-4.68	0.81595	D	0.796	0.79214	-0.4788	0.69410	T	0.288	0.66007	T	10	0.025063962	0.00712	T	0.256692	0.89340	D	0.367	0.68670	.	.	0.860991568236	0.85964	0.5507798908634502	0.55003	0.889622572193	0.70165	0.606148600578	0.53772	T	0.679134	0.90559	D	-0.324341	0.06549	T	-0.234805	0.51305	T	0.0838727124354833	0.10475	T	0.855114	0.54241	D	0.36221606	0.58005	0.5789989	0.75602	0.34577358	0.56736	0.53745306	0.73270	-6.695	0.55452	T	.	.	0.183	0.40889	B	.;.;.;.;.	.;.;.;.;.	3.651207	0.51821	23.2	0.99522149308898489	0.69284	0.69129	0.34066	D	AEFDBI	0.198968	0.32579	N	-0.141444679669452	0.35599	2.046873	-0.259588472748083	0.29442	1.649562	0.0213184414377857	0.13338	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.58	2.62	0.30337	0.829000	0.27102	3.294000	0.37329	-0.279000	0.06446	0.347000	0.25734	0.998000	0.33993	0.194000	0.21720	0.0:0.4665:0.5335:0.0	12.752	0.56685	460	0.78750	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003046	0.000000	0.000000	0.000000	0.000000	0.008621	0.009317	0.003817	0.02632	435.33	32	chr11	64600740	.	C	T	435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.357;DP=602;ExcessHet=0;FS=4.041;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.653;SOR=0.169	GT:AD:DP:GQ:PL	0/1:15,16:31:99:449,0,433	18	0	1	0
chr11	66497409	66497409	C	T	exonic	DPP3	.	nonsynonymous SNV	DPP3:NM_001256670:exon15:c.C1720T:p.R574C,DPP3:NM_005700:exon16:c.C1810T:p.R604C,DPP3:NM_130443:exon16:c.C1810T:p.R604C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	0.0003	0.000798722	0.0018	0	0	0	0.0186	0.0013	0.0078	0	0.0014553	225	154602	rs150300932	0.0008	0.0008	0.0008	0.0008	9.263e-05	0.0007	0.0007	7.773e-05	7.258e-05	0	0	0	0	0.0183	0	9.263e-05	0.0011	1.16e-05	0.0016	0.0016	0.0008	0.0023	0.0002	0.0014	0.0013	0.0002	0.0001	0	0	0	0	0.0002	0.0205	0	0.0002	0.0005	0	0.022	0.48642	D	0.167	0.30926	T	0.006	0.13644	B	0.003	0.12133	B	0.033442	0.24896	N	0.453439	0.997021	0.43577	D	1.995	0.54099	M	1.89	0.23688	T	-1.85	0.43334	N	0.43	0.48134	-1.0876	0.05943	T	0.033	0.14334	T	10	0.011529863	0.00251	T	.	.	.	0.121	0.33580	.	.	0.378148810121	0.37422	0.5424803913551726	0.54173	.	.	0.267371237278	0.05800	T	0.070251	0.58695	T	-0.426436	0.01558	T	-0.420701	0.30996	T	0.078639469379953	0.09812	T	0.816218	0.49484	T	0.08605605	0.19988	0.06417422	0.12823	0.08605605	0.19988	0.06417422	0.12823	-7.343	0.57434	T	.	.	0.087	0.12560	B	.;.;.;.	.;.;.;.	3.873622	0.56256	23.7	0.99444116464083365	0.64921	0.80180	0.39887	D	AEFGBI	0.237510	0.35978	N	-0.323725454014809	0.28249	1.556585	-0.158655005356118	0.33077	1.88831	0.0763617271410553	0.15725	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.85	3.99	0.45527	2.061000	0.41030	2.735000	0.34419	-0.841000	0.02792	0.999000	0.42656	0.988000	0.31051	0.741000	0.35472	0.1578:0.68:0.0:0.1622	5.612	0.16692	55	0.97548	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	34	chr11	66497409	.	C	T	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=699;ExcessHet=0;FS=4.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.299;SOR=0.333	GT:AD:DP:GQ:PL	0/1:38,41:79:99:1073,0,903	18	0	1	0
chr11	67487057	67487057	G	A	exonic	AIP	.	nonsynonymous SNV	AIP:NM_001302960:exon2:c.G151A:p.D51N,AIP:NM_003977:exon2:c.G151A:p.D51N	Pituitary adenoma, ACTH-secreting, Autosomal recessive;Pituitary adenoma, growth hormone-secreting, Autosomal dominant, Somatic mutation;Pituitary adenoma, prolactin-secreting	.	.	.	.	.	.	.	.	.	.	810867	Somatotroph_adenoma|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0007052,MedGen:C4538355,OMIM:102200,Orphanet:314777,Orphanet:963|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.817	0.513663251314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.45	0.88847	D	-4.71	0.80510	D	0.875	0.87265	0.976	0.96791	D	0.870	0.95667	D	10	0.9867381	0.99001	D	0.513663	0.95340	D	0.817	0.94123	0.924	0.98707	0.922766685427	0.92197	0.8883113056915437	0.88800	1.12871861863	0.78529	0.573907971382	0.49229	T	0.478552	0.80832	T	0.139132	0.68243	D	-0.0379234	0.67842	D	0.997607469558716	0.91964	D	0.988201	0.95985	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.937	0.86514	P	.;.	.;.	4.776877	0.77386	26.7	0.99875259177422859	0.95244	0.99517	0.96975	D	ALL	0.936890	0.93387	D	0.84658420318109	0.88914	9.760807	0.730324682914808	0.84680	8.360288	1.0	0.98316	0.706548	0.73137	0	0.52208	0.09955	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	9.541000	0.97178	11.813000	0.96995	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.182000	0.21359	0.0:0.0:1.0:0.0	17.344	0.87194	749	0.51929	FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain;FKBP-type peptidyl-prolyl cis-trans isomerase domain|FKBP-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2061.33	39	chr11	67487057	.	G	A	2061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.586;DP=811;ExcessHet=0;FS=1.259;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.487;SOR=0.833	GT:AD:DP:GQ:PL	0/1:82,81:163:99:2075,0,2228	18	0	1	0
chr11	71548947	71548947	G	A	exonic	KRTAP5-9	.	nonsynonymous SNV	KRTAP5-9:NM_005553:exon1:c.G290A:p.C97Y	.	411	1105	2	0	4	6	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	.	0.00239617	0.0022	9.862e-05	0.0002	0	0	2.997e-05	0.0022	0.0159	0.0018758	290	154602	rs535053140	0.0010	0.0010	0.0005	0.0014	0.0157	0.0009	0.0009	0.0150	0.0147	9.42e-05	2.249e-05	0	0	0	0.0005	8.124e-06	0.0010	0.0157	0.0004	0.0004	0.0002	0.0007	0.0131	0.0004	0.0003	0.0105	0.0095	5.186e-05	0	0	0	0	0	0	1.471e-05	0	0.0131	0.0	0.91255	D	0.0	0.92824	D	0.896	0.49324	P	0.504	0.47761	P	.	.	.	.	0.993389	0.23721	N	3.115	0.87836	M	3.39	0.05710	T	-8.35	0.97055	D	0.25	0.28264	-1.0478	0.15016	T	0.045	0.19316	T	9	0.004939854	0.00106	T	.	.	.	0.089	0.25827	0.403	0.43408	0.584954716481	0.58168	.	.	0.163754916086	0.18470	.	.	.	0.118216	0.43887	T	-0.4724	0.00821	T	-0.439022	0.28917	T	0.248085102933661	0.22787	T	0.618038	0.23687	T	0.7967657	0.83699	0.59460855	0.76468	0.7967657	0.83701	0.59460855	0.76468	-8.464	0.64191	D	.	.	0.168	0.36908	B	.	.	2.185900	0.27867	17.61	0.94609592365153894	0.25177	0.39336	0.26190	N	AEFDBCI	0.218380	0.34339	N	0.204378255193309	0.51412	3.322556	0.0210560692864076	0.40694	2.432728	0.99994994612482	0.47345	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.26	1.26	0.20534	6.210000	0.72114	.	.	0.471000	0.21939	0.997000	0.40164	0.020000	0.20764	0.027000	0.12703	0.0:0.2339:0.5281:0.238	4.967	0.13445	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001059	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.003817	0.02632	2198.33	34	chr11	71548947	.	G	A	2198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.719;DP=1434;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=0.818;QD=9.77;ReadPosRankSum=0.433;SOR=0.672	GT:AD:DP:GQ:PL	0/1:136,89:225:99:2212,0,3858	18	0	1	0
chr11	72693710	72693710	C	A	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon25:c.G2872T:p.A958S,ARAP1:NM_001369489:exon26:c.G3055T:p.A1019S,ARAP1:NM_015242:exon26:c.G3055T:p.A1019S,ARAP1:NM_001040118:exon28:c.G3790T:p.A1264S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0160963777566	.	0.000998403	0.0009	0	0	0	0	0	0.0038	0.0054	0.0004916	76	154602	rs553453512	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	4.542e-05	0	0	0	0	1.082e-05	0.0003	0.0030	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	0	0.0005	0.0056	0.184	0.21801	T	0.126	0.35455	T	0.006	0.13644	B	0.024	0.20255	B	0.000391	0.44960	D	0.191168	0.990234	0.44513	D	1.275	0.32135	L	3.23	0.45248	T	-1.35	0.33598	N	0.256	0.32370	-1.0668	0.10131	T	0.081	0.32090	T	10	0.0057937205	0.00129	T	0.016096	0.37187	T	0.064	0.18567	0.338	0.32816	0.290222751274	0.28632	0.324479613952735	0.32360	0.294275022002	0.31851	0.429066240788	0.29081	T	0.015758	0.32597	T	-0.447202	0.01173	T	-0.418202	0.31281	T	0.0248348212399758	0.01251	T	0.831217	0.49813	T	0.067774594	0.14708	0.09187901	0.21624	0.067774594	0.14707	0.09187901	0.21623	-2.718	0.13686	T	.	.	0.086	0.14751	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.528989	0.32697	19.12	0.96869999617277103	0.31415	0.90593	0.51898	D	AEFDGBHCI	0.469404	0.51580	N	-0.190518290431078	0.33527	1.903189	-0.0208205726047793	0.38776	2.289397	0.999999983732275	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	0.797000	0.26660	3.294000	0.37329	0.587000	0.30956	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.9147:0.0:0.0853	10.805	0.45716	440	0.80101	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1045.33	33	chr11	72693710	.	C	A	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=751;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.293;SOR=0.881	GT:AD:DP:GQ:PL	0/1:57,40:97:99:1059,0,1427	18	0	1	0
chr11	76795629	76795631	CTG	-	exonic	TSKU	.	nonframeshift deletion	TSKU:NM_001258210:exon2:c.13_15del:p.L9del,TSKU:NM_001318477:exon2:c.55_57del:p.L23del,TSKU:NM_001318478:exon2:c.13_15del:p.L9del,TSKU:NM_001318479:exon2:c.13_15del:p.L9del,TSKU:NM_015516:exon2:c.13_15del:p.L9del	.	375	1091	56	0	0	56	0.0250223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0413	0.0372	0.0486	0.0402	0.0415	0.0386	0.0385	0.0507	0.0008452	22	26028	rs149062181	0.0001	0.0072	9.125e-05	0.0001	0.0002	9.903e-05	9.372e-05	0.0001	8.924e-05	3.022e-05	0.0001	0.0002	0.0001	0.0013	0.0002	5.647e-05	8.417e-05	0.0002	6.578e-06	0.0001	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	210.79	33	chr11	76795628	.	CCTG	C	210.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.106;DP=874;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=-0.494;SOR=0.737	GT:AD:DP:GQ:PL	0/1:69,7:76:86:86,0,2874	17	0	2	0
chr11	78465958	78465958	T	C	exonic	NARS2	.	nonsynonymous SNV	NARS2:NM_001243251:exon11:c.A401G:p.N134S,NARS2:NM_024678:exon11:c.A1082G:p.N361S	Combined oxidative phosphorylation deficiency 24, Autosomal recessive	414	1097	11	0	0	11	0.00498866	.	.	.	713196	not_specified|NARS2-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.186	0.0246044422804	0.0008	0.000399361	0.0015	0	0.0003	0	0.0005	0.0009	0.0044	0.0068	0.0012872	199	154602	rs150355410	0.0009	0.0009	0.0007	0.0011	0.0073	0.0008	0.0008	0.0068	0.0066	5.976e-05	0.0005	0.0038	0	0.0004	0.0033	0.0004	0.0010	0.0073	0.0007	0.0007	0.0007	0.0008	0.0056	0.0006	0.0006	0.0039	0.0034	9.623e-05	0	0.0012	0.0026	0	0.0002	0.0034	0.0007	0.0005	0.0056	0.068	0.36310	T	0.056	0.46862	T	0.001	0.07471	B	0.009	0.14300	B	0.006470	0.32011	N	0.382752	0.924485	0.36776	D	0.87	0.21467	L	-1.84	0.84195	D	-1.14	0.29323	N	0.176	0.19593	-0.4542	0.70261	T	0.409	0.75810	T	10	0.008098215	0.00184	T	0.024604	0.47597	T	0.186	0.46104	.	.	0.647459595057	0.64453	0.4144245884794886	0.41358	0.0400337810157	0.04279	0.285364836454	0.08251	T	0.34181	0.75956	T	-0.469702	0.00854	T	-0.443046	0.28468	T	0.0222564231528155	0.00937	T	0.847515	0.55085	T	0.07305988	0.16298	0.058001664	0.10643	0.04312842	0.06665	0.051105518	0.08157	-5.742	0.44066	T	0.2106537040487836	0.28228	0.100	0.17317	B	.;.;.	.;.;.	1.454477	0.18762	13.91	0.88522829126518043	0.18043	0.77924	0.38373	D	AEFDGBCI	0.247440	0.36802	N	-0.472361943260293	0.22989	1.231411	-0.348210770589493	0.26564	1.468124	0.999991960091654	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.59	2.27	0.27501	2.491000	0.44961	0.922000	0.22712	-0.176000	0.10722	0.763000	0.29277	0.718000	0.26334	0.992000	0.67800	0.0:0.1694:0.0:0.8306	8.268	0.30984	668	0.61153	Aminoacyl-tRNA synthetase, class II (D/K/N)|Aminoacyl-tRNA synthetase, class II;.;Aminoacyl-tRNA synthetase, class II (D/K/N)	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	839.33	33	chr11	78465958	.	T	C	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.43;DP=694;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-2.023;SOR=0.976	GT:AD:DP:GQ:PL	0/1:42,30:72:99:853,0,1057	18	0	1	0
chr11	90041177	90041177	T	C	exonic	TRIM49C	.	nonsynonymous SNV	TRIM49C:NM_001195234:exon8:c.T986C:p.L329P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00128338082759	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369896954	4.126e-06	4.789e-06	4.103e-06	4.149e-06	3.613e-06	1.48e-06	9.8e-07	8.5e-07	5.7e-07	0	0	0	0	3.773e-05	0	3.613e-06	0	0	6.885e-06	6.601e-06	1.339e-05	0	1.524e-05	0	0	.	.	0	0	0	0	0	0	0	1.524e-05	0	0	0.043	0.41364	D	0.07	0.43721	T	0.044	0.21686	B	0.039	0.23607	B	.	.	.	.	0.99978	0.20372	N	1.83	0.48079	L	3.56	0.04696	T	-2.21	0.49684	N	0.223	0.25006	-0.9297	0.44183	T	0.012	0.04558	T	8	0.11259881	0.21126	T	0.001283	0.01759	T	0.054	0.15330	0.66	0.79791	0.0551355673512	0.04727	0.18863070004805815	0.18781	2.4809715762	0.97539	0.453893363476	0.32476	T	0.038339	0.24803	T	-0.234905	0.16006	T	-0.575201	0.14976	T	0.054563395967886	0.06284	T	0.455954	0.13062	T	0.3708531	0.58648	0.367096	0.62026	0.3708531	0.58648	0.367096	0.62026	-7.431	0.57123	T	.	.	0.372	0.57963	A	.	.	0.291946	0.06680	3.185	0.79511877321532709	0.12775	0.00106	0.00678	N	AEFI	0.030363	0.03039	N	-1.13665766355582	0.06002	0.2751708	-1.28213597478202	0.04672	0.220915	1.19682332411761E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.823	-0.775	0.10433	-2.358000	0.01165	-15.955000	0.00333	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.0:0.4432:0.0:0.5568	3.109	0.05968	900	0.24599	Butyrophylin-like, SPRY domain|B30.2/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	.	.	.	.	.	.	.	.	0.02632	2284.33	37	chr11	90041177	.	T	C	2284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.398;DP=3111;ExcessHet=0;FS=23.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=41.88;MQRankSum=2.26;QD=15.97;ReadPosRankSum=-2.306;SOR=0.208	GT:AD:DP:GQ:PL	0/1:53,90:143:99:2298,0,1252	18	0	1	0
chr11	100350751	100350751	A	C	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon21:c.A2858C:p.Q953P,CNTN5:NM_001243270:exon23:c.A3080C:p.Q1027P,CNTN5:NM_014361:exon24:c.A3080C:p.Q1027P	.	429	1089	4	0	0	4	0.00183318	.	.	.	3206975	CNTN5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.222	.	.	0.00419329	0.0027	0.0002	0.0004	0	0	0	0.0011	0.0192	0.0022574	349	154602	rs200442733	0.0011	0.0011	0.0006	0.0017	0.0182	0.0011	0.0011	0.0175	0.0172	0.0002	0.0002	3.854e-05	5.048e-05	0	0.0009	9.919e-06	0.0011	0.0182	0.0005	0.0005	0.0003	0.0008	0.0164	0.0005	0.0004	0.0135	0.0124	4.817e-05	0	6.582e-05	0	0	0	0	0	0.0005	0.0164	0.065	0.37536	T	0.055	0.49942	T	0.007	0.14184	B	0.005	0.11217	B	0.000106	0.50451	D	0.177105	0.998846	0.45546	D	0.895	0.22405	L	0.67	0.52187	T	-1.43	0.35597	N	0.715	0.71765	-1.0562	0.12724	T	0.089	0.34188	T	9	0.0086761415	0.00196	T	.	.	.	0.222	0.51872	0.448	0.50793	0.616247408722	0.61314	0.7157807489366076	0.71521	0.0404934188175	0.04339	0.417039364576	0.27430	T	0.208514	0.56846	T	-0.158944	0.26923	T	0.0138476	0.71230	D	0.0281755723035135	0.01713	T	0.590841	0.21745	T	0.31306636	0.54049	0.38077706	0.63102	0.31306636	0.54049	0.38077706	0.63102	-4.195	0.26679	T	.	.	0.175	0.38390	B	.;.;.;.;.	.;.;.;.;.	2.698562	0.35241	19.85	0.98224542582863417	0.39334	0.81574	0.40950	D	AEFI	0.506194	0.53702	D	-0.184479348798076	0.33781	1.920425	0.0211962021177463	0.40700	2.433215	1.75541421441274E-4	0.05786	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	2.513000	0.45155	7.928000	0.74873	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.602	0.68045	930	0.16408	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	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	941.33	33	chr11	100350751	.	A	C	941.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.31;DP=713;ExcessHet=0;FS=9.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.398;SOR=1.024	GT:AD:DP:GQ:PL	0/1:43,38:81:99:955,0,1105	18	0	1	0
chr11	107504833	107504833	G	C	exonic	ALKBH8	.	nonsynonymous SNV	ALKBH8:NM_001378133:exon11:c.C1670G:p.P557R,ALKBH8:NM_001301010:exon12:c.C1820G:p.P607R,ALKBH8:NM_138775:exon12:c.C1820G:p.P607R	.	428	1093	1	0	0	1	0.000457247	.	.	.	737710	Intellectual_developmental_disorder,_autosomal_recessive_71|not_provided	MONDO:MONDO:0032789,MedGen:C5193133,OMIM:618504|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.089	.	.	0.00399361	0.0009	0	0	0.0224	0	0.0001	0	0.0005	0.0003234	50	154602	rs150879765	0.0009	0.0009	0.0009	0.0009	0.0332	0.0009	0.0009	0.0316	0.0310	0	8.405e-05	0	0.0332	0	0	1.576e-05	0.0013	0.0002	0.0010	0.0010	0.0008	0.0013	0.0280	0.0009	0.0008	0.0243	0.0228	0	0	6.543e-05	0	0.0280	0	0	4.41e-05	0.0005	0.0012	0.649	0.04864	T	0.542	0.09690	T	0.0	0.02946	B	0.001	0.04355	B	0.794776	0.06733	N	1.100310	1	0.08975	N	2.08	0.57402	M	1.08	0.39401	T	0.43	0.03297	N	0.072	0.04547	-1.0129	0.26007	T	0.037	0.15899	T	10	0.0026815236	0.00041	T	.	.	.	0.089	0.25827	.	.	0.166414681773	0.16258	0.2570011457225253	0.25614	0.00990482435989	0.00904	0.249365627766	0.03701	T	0.032151	0.22361	T	-0.595076	0.00156	T	-0.605249	0.12374	T	0.00990320986297665	0.00131	T	0.336266	0.07184	T	0.024337174	0.01255	0.046268363	0.06409	0.024337174	0.01255	0.046268363	0.06409	-5.318	0.40852	T	.	.	0.076	0.06341	B	.;.;.	.;.;.	0.954302	0.13308	9.808	0.60204080316671071	0.06407	0.05346	0.11203	N	AEFBI	0.071759	0.14298	N	-0.656607121824296	0.17268	0.8871263	-0.647277780130187	0.18285	0.9761525	1.4697993706358E-5	0.02871	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.37	2.13	0.26445	-0.395000	0.07347	-1.415000	0.05493	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.1632:0.2144:0.5092:0.1132	3.542	0.07369	712	0.56465	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	988.33	33	chr11	107504833	.	G	C	988.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.766;DP=733;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.484;SOR=0.735	GT:AD:DP:GQ:PL	0/1:58,40:98:99:1002,0,1756	18	0	1	0
chr11	112017874	112017874	G	A	exonic	DIXDC1	.	nonsynonymous SNV	DIXDC1:NM_033425:exon15:c.G1327A:p.V443I,DIXDC1:NM_001037954:exon19:c.G1960A:p.V654I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00431558143548	.	0.000199681	9.462e-05	0	0	0	0	0	0	0.0007	6.47e-05	10	154602	rs587769234	3.091e-05	3.215e-05	1.912e-05	4.284e-05	0.0005	2.357e-05	2.103e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.017	0.60337	D	0.243	0.30970	B	0.185	0.36047	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.609	0.66529	-0.6915	0.60838	T	0.234	0.60112	T	9	0.2568024	0.43089	T	0.004316	0.10467	T	0.168	0.42943	0.682	0.81982	0.688942496604	0.68627	0.5773526304452289	0.57664	0.25699461761	0.28266	0.602541089058	0.53263	T	0.04248	0.26197	T	-0.176572	0.24246	T	-0.150861	0.59167	T	0.829952478408813	0.48527	D	0.965803	0.89869	D	0.54639184	0.69754	0.24386263	0.49839	0.54639184	0.69755	0.24386263	0.49838	-9.587	0.73136	D	.	.	0.192	0.56914	B	.;.	.;.	3.935216	0.57545	23.9	0.99749744387632744	0.84152	0.71442	0.35015	D	AEFDGBHCI	0.857697	0.77510	D	0.454709198708963	0.64470	4.702392	0.546643631520133	0.71165	5.61334	1.0	0.98316	0.651	0.46895	0	0.624146	0.53433	0	0.65145	0.50148	0	0.591603	0.36755	0	.	.	5.12	5.12	0.69459	9.455000	0.96786	11.863000	0.98373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.514	0.90880	609	0.67094	DIX domain|DIX domain|DIX domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1328.33	35	chr11	112017874	.	G	A	1328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=732;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.28;SOR=0.502	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1342,0,1048	18	0	1	0
chr11	113232347	113232347	A	C	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_000615:exon10:c.A1388C:p.Y463S,NCAM1:NM_001076682:exon10:c.A1388C:p.Y463S,NCAM1:NM_001242608:exon10:c.A1388C:p.Y463S,NCAM1:NM_181351:exon11:c.A1418C:p.Y473S,NCAM1:NM_001242607:exon12:c.A1496C:p.Y499S	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	.	0.0030	0.00579073	0.0019	0.0108	0.0003	0.0001	0	4.591e-05	0.0012	0.0084	0.0017658	273	154602	rs186683121	0.0007	0.0007	0.0005	0.0008	0.0100	0.0006	0.0006	0.0091	0.0088	0.0100	0.0003	0	7.557e-05	0	0	2.074e-05	0.0009	0.0064	0.0032	0.0032	0.0032	0.0032	0.0103	0.0030	0.0029	0.0095	0.0092	0.0103	0	0.0008	0	0.0002	0	0	0.0001	0.0014	0.0071	.	.	.	0.249	0.28575	T	0.852	0.49025	P	0.838	0.62516	P	0.015863	0.28130	U	0.342320	0.999554	0.47544	D	.	.	.	.	.	.	.	.	.	0.478	0.54845	-0.6600	0.62276	T	0.243	0.61107	T	9	0.017407477	0.00371	T	.	.	.	0.363	0.68319	.	.	0.764614436417	0.76247	0.7854260068134121	0.78493	.	.	0.778291225433	0.78670	T	0.325005	0.81120	T	-0.3329	0.05895	T	-0.241569	0.50646	T	0.0596276484111004	0.07110	T	0.928607	0.73726	D	0.32097432	0.54722	0.33164072	0.59021	0.32097432	0.54722	0.33164072	0.59020	-12.535	0.90611	D	.	.	0.317	0.68305	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.996370	0.58859	24.0	0.98463632499356146	0.41768	0.87634	0.47238	D	AEFDBI	0.611335	0.59982	D	0.260584365068509	0.54165	3.582734	0.278992647322552	0.54314	3.596806	0.998250037604673	0.36648	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.73	4.58	0.56077	1.487000	0.35149	5.189000	0.47892	0.756000	0.94297	0.711000	0.28732	1.000000	0.68203	0.994000	0.71098	0.7952:0.0:0.0701:0.1347	6.849	0.23189	649	0.63102	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;Immunoglobulin I-set|Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1235.33	33	chr11	113232347	.	A	C	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=720;ExcessHet=0;FS=10.901;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=1.79;SOR=1.645	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1249,0,967	18	0	1	0
chr11	113393582	113393582	T	G	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon2:c.T287G:p.I96S	Dopamine receptor D2, reduced brain density of (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.775	0.0831674332881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0072	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0005	2.238e-05	0.0002	2.526e-05	0	0	0.0006	0.0004	0.0001	0	4.593e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	0.998	0.73220	D	0.955	0.69585	D	0.001683	0.38271	N	0.106740	0.999565	0.47592	D	2.935	0.84639	M	-2.06	0.85875	D	-2.33	0.51646	N	0.715	0.71765	0.763	0.93954	D	0.780	0.92530	D	10	0.911589	0.90524	D	0.083167	0.74058	D	0.775	0.92460	0.757	0.88648	0.959927306638	0.95950	0.7957032885202756	0.79523	0.409977009547	0.41797	0.414883732796	0.27132	T	0.347171	0.71533	T	0.250935	0.78687	D	0.122675	0.78412	D	0.947687149047852	0.62734	D	0.89841	0.64469	D	0.44384396	0.63650	0.441413	0.67426	0.44384396	0.63650	0.441413	0.67426	-14.507	0.94587	D	.	.	0.501	0.64649	A	.	.	4.032976	0.59644	24.1	0.99359289209995916	0.60946	0.97134	0.72889	D	AEFDBIJ	0.738137	0.68311	D	0.614194288404681	0.74070	6.070907	0.487549641339753	0.67165	5.04749	0.999999908240186	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	6.026000	0.70520	1.598000	0.27567	0.587000	0.30956	0.962000	0.33725	0.951000	0.29025	0.187000	0.21511	0.0:0.0:0.0:1.0	13.617	0.61587	852	0.35056	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	468.33	86	chr11	113393582	.	T	G	468.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.116;DP=1253;ExcessHet=0;FS=96.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.47;ReadPosRankSum=1.67;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,26:135:99:0|1:113393582_T_G:482,0,4246:113393582	18	0	1	0
chr11	113393583	113393583	T	G	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon2:c.T288G:p.I96M	Dopamine receptor D2, reduced brain density of (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0351570617157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0057	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0	0.0001	0	0	0	0.0003	0.0003	0.0001	0	3.281e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.017	0.60337	D	0.998	0.73220	D	0.97	0.72226	D	0.001683	0.38271	N	0.106740	0.655789	0.33006	D	1.275	0.32135	L	-1.95	0.85003	D	-0.81	0.22294	N	0.406	0.44666	-0.2445	0.76508	T	0.492	0.80722	T	10	0.31718248	0.49131	T	0.035157	0.56159	D	0.409	0.72099	0.473	0.54859	0.655054467334	0.65217	0.32454232724368093	0.32367	0.20217626629	0.22641	0.383430927992	0.22742	T	0.092215	0.38958	T	-0.00139063	0.51461	T	-0.239774	0.50821	T	0.662788808345795	0.39018	D	0.717528	0.33029	T	0.16646504	0.36983	0.110757075	0.26709	0.16646504	0.36983	0.110757075	0.26709	-7.143	0.55071	T	.	.	0.105	0.19276	B	.	.	0.965068	0.13415	9.925	0.99068901766293638	0.51668	0.08553	0.14466	N	AEFDBIJ	0.073801	0.14774	N	-0.399494216881174	0.25488	1.383902	-0.606007163573675	0.19338	1.037091	0.746092867969463	0.23287	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.84	-3.55	0.04343	-1.123000	0.03375	-2.351000	0.03864	0.587000	0.30956	0.011000	0.18532	0.000000	0.08366	0.188000	0.21541	0.2335:0.2916:0.1093:0.3656	1.084	0.01546	852	0.35056	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	475.33	86	chr11	113393583	.	T	G	475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.606;DP=1254;ExcessHet=0;FS=99.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.5;ReadPosRankSum=1.76;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,27:136:99:0|1:113393582_T_G:489,0,4243:113393582	18	0	1	0
chr11	113393585	113393585	T	G	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon2:c.T290G:p.V97G	Dopamine receptor D2, reduced brain density of (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.801	0.070781871294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0063	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0004	0	7.687e-05	2.525e-05	0	0	0.0004	0.0003	0.0001	0	2.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000189	0.48115	D	0.000000	1	0.81001	D	3.545	0.93219	H	-2.37	0.88220	D	-4.16	0.75375	D	0.592	0.61172	0.801	0.94421	D	0.848	0.94919	D	10	0.9210774	0.91462	D	0.070782	0.71095	D	0.801	0.93504	0.807	0.92442	0.967390511314	0.96704	0.8458196771722492	0.84542	0.426436801106	0.43018	0.557420492172	0.46903	T	0.54873	0.84681	D	0.384441	0.88991	D	0.314447	0.88853	D	0.997959017753601	0.92847	D	0.568943	0.20238	T	0.79488266	0.83581	0.69732916	0.82175	0.79488266	0.83582	0.69732916	0.82176	-16.144	0.97969	D	.	.	0.547	0.66670	A	.	.	4.338019	0.66532	25.0	0.99452195128265664	0.65325	0.97799	0.77218	D	AEFDBIJ	0.895341	0.83526	D	0.44898167076483	0.64146	4.663	0.297775970874994	0.55409	3.704011	0.999265279050793	0.38940	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.84	3.71	0.41733	7.760000	0.84095	3.020000	0.35998	-0.214000	0.08267	1.000000	0.71638	1.000000	0.68203	0.173000	0.21076	0.0:0.0819:0.0:0.9181	9.694	0.39310	852	0.35056	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	475.33	86	chr11	113393585	.	T	G	475.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.622;DP=1254;ExcessHet=0;FS=99.776;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.5;ReadPosRankSum=1.38;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,27:136:99:0|1:113393582_T_G:489,0,4243:113393582	18	0	1	0
chr11	113397269	113397269	G	T	exonic	ANKK1	.	nonsynonymous SNV	ANKK1:NM_178510:exon6:c.G884T:p.R295L	Dopamine receptor D2, reduced brain density of (3)	414	1103	4	0	1	5	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0207815257428	0.0012	0.000998403	0.0016	0.0003	0.0003	0	0.0002	0.0010	0.0011	0.0075	0.0015394	238	154602	rs199747130	0.0018	0.0018	0.0016	0.0019	0.0076	0.0017	0.0017	0.0071	0.0069	0.0003	0.0002	0.0004	2.519e-05	0.0002	0.0002	0.0016	0.0011	0.0076	0.0016	0.0016	0.0017	0.0016	0.0073	0.0015	0.0014	0.0054	0.0047	0.0003	0.1042	0.0004	0.0003	0	9.409e-05	0	0.0014	0	0.0073	0.253	0.16958	T	0.323	0.18959	T	0.0	0.02946	B	0.0	0.01387	B	0.787433	0.09424	U	0.868455	1	0.08975	N	-0.345	0.03330	N	-0.85	0.74371	T	-0.63	0.18459	N	0.069	0.04188	-0.9797	0.35071	T	0.162	0.49698	T	10	0.0026816428	0.00041	T	0.020782	0.43441	T	0.102	0.29158	.	.	0.368554958709	0.36468	0.3217023681194162	0.32083	0.0721314531546	0.08083	0.310952365398	0.12050	T	0.022465	0.17317	T	-0.550025	0.00292	T	-0.559263	0.16447	T	0.00292798968184439	0.00031	T	0.542346	0.18433	T	0.046599317	0.07827	0.070496984	0.14985	0.046599317	0.07827	0.070496984	0.14985	-3.364	0.14576	T	.	.	0.095	0.14933	B	.	.	0.729848	0.10990	7.651	0.17109692307620933	0.00486	0.01193	0.04262	N	AEFDBI	0.023928	0.01404	N	-1.14820299507641	0.05809	0.2658026	-1.10026408692811	0.07696	0.3753517	0.58232177051242	0.21581	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.8	2.95	0.33285	0.489000	0.22096	0.718000	0.20989	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.6172:0.1842:0.1986	4.613	0.11802	858	0.34001	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	2017.33	36	chr11	113397269	.	G	T	2017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.882;DP=750;ExcessHet=0;FS=1.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-1.728;SOR=0.565	GT:AD:DP:GQ:PL	0/1:47,78:125:99:2031,0,1037	18	0	1	0
chr11	113748285	113748285	T	C	exonic	ZW10	.	nonsynonymous SNV	ZW10:NM_004724:exon8:c.A1061G:p.N354S	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00910824455999	.	0.00179712	0.0009	0	0	0	0	0	0	0.0068	0.0007827	121	154602	rs201319504	0.0004	0.0004	0.0002	0.0006	0.0070	0.0004	0.0004	0.0066	0.0064	2.991e-05	0	0	2.522e-05	0	0.0002	0	0.0003	0.0070	0.0002	0.0002	8.994e-05	0.0003	0.0066	0.0002	0.0001	0.0048	0.0042	2.406e-05	0	0	0	0	0	0	0	0	0.0066	0.224	0.18691	T	0.74	0.04982	T	0.0	0.02946	B	0.006	0.12133	B	0.000000	0.84330	N	0.119478	0.999992	0.58761	D	1.28	0.32218	L	0.82	0.48142	T	-1.21	0.30762	N	0.233	0.26233	-1.0359	0.18575	T	0.087	0.33774	T	10	0.011537105	0.00252	T	0.009108	0.23965	T	0.118	0.32913	0.724	0.85850	0.276065633971	0.27208	0.19685159449161926	0.19602	0.104134967203	0.11784	0.499343246222	0.38736	T	0.032617	0.22566	T	-0.56414	0.00240	T	-0.5787	0.14661	T	0.0254312889896481	0.01330	T	0.862414	0.55771	D	0.063630395	0.13419	0.0749322	0.16445	0.063630395	0.13419	0.0749322	0.16444	-4.381	0.29298	T	.	.	0.069	0.03231	B	.	.	2.029375	0.25788	16.89	0.97798504067764613	0.36046	0.96445	0.69175	D	AEFBI	0.404910	0.47801	N	-0.52890136748288	0.21150	1.120324	-0.413959754193718	0.24588	1.347229	0.877633376464256	0.25550	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.8	3.46	0.38718	3.619000	0.53937	2.851000	0.35141	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.126:0.0676:0.0:0.8065	7.627	0.27385	540	0.73006	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	902.33	43	chr11	113748285	.	T	C	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.624;DP=842;ExcessHet=0;FS=2.956;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.11;SOR=0.433	GT:AD:DP:GQ:PL	0/1:43,40:83:99:916,0,1050	18	0	1	0
chr11	113946042	113946042	C	T	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon8:c.C1198T:p.R400C,HTR3B:NM_006028:exon9:c.C1231T:p.R411C	.	.	.	.	.	.	.	.	.	.	.	3270628	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0483207198616	0.0002	.	4.121e-05	9.623e-05	0	0.0002	0	0	0	0.0001	3.23e-05	5	154602	rs144980029	4.994e-05	4.994e-05	3.948e-05	6.05e-05	0.0004	4.059e-05	3.734e-05	0.0003	0.0002	0.0004	2.236e-05	0	2.519e-05	0	0	3.867e-05	3.312e-05	0.0001	5.919e-05	6.567e-05	3.856e-05	8.079e-05	0.0002	3.08e-05	2.212e-05	0.0001	8.46e-05	0.0002	0	0	0	0	0	0	0	0	0	0.036	0.49117	D	0.019	0.59159	D	0.996	0.70673	D	0.53	0.56482	P	0.001883	0.37740	N	0.258863	0.979303	0.39548	D	2.39	0.68882	M	1.86	0.24285	T	-1.17	0.29933	N	0.176	0.30233	-1.0195	0.23877	T	0.094	0.35578	T	10	0.2766311	0.45226	T	0.048321	0.63323	D	0.135	0.36572	.	.	0.450539155747	0.44678	0.2754037371227401	0.27453	0.151774190141	0.17126	0.253893971443	0.04190	T	0.004736	0.04144	T	-0.374309	0.03382	T	-0.421412	0.30914	T	0.224937915802002	0.21708	T	0.79532	0.43818	T	0.11509679	0.27164	0.065410025	0.13253	0.11509679	0.27163	0.065410025	0.13252	-5.811	0.44670	T	.	.	0.113	0.23535	B	.;.	.;.	3.505512	0.49069	22.7	0.99854080381474775	0.93279	0.39135	0.26145	N	AEFBI	0.200843	0.32754	N	-0.000920105185344494	0.41813	2.507832	-0.108101939521375	0.35063	2.02411	0.0122873787915178	0.12305	0.55562	0.30534	0	0.627178	0.54094	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	5.48	3.54	0.39650	0.686000	0.25072	2.215000	0.31401	0.549000	0.26987	0.085000	0.22462	0.010000	0.20010	0.046000	0.14843	0.1467:0.7766:0.0:0.0767	8.895	0.34620	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2183.33	33	chr11	113946042	.	C	T	2183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.951;DP=798;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.16;SOR=0.547	GT:AD:DP:GQ:PL	0/1:83,89:172:99:2197,0,1995	18	0	1	0
chr11	114405714	114405714	A	G	exonic	RBM7	.	nonsynonymous SNV	RBM7:NM_001286045:exon4:c.A356G:p.E119G,RBM7:NM_016090:exon4:c.A353G:p.E118G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0120164016902	.	.	3.325e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs756862051	1.61e-05	1.642e-05	6.962e-06	2.534e-05	0.0003	1.072e-05	8.96e-06	0.0002	0.0002	0	0	0	0	0	0	9.095e-07	0	0.0003	1.314e-05	1.313e-05	0	2.69e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	1.469e-05	0	0	0.212	0.39575	T	0.324	0.40909	T	0.007	0.14184	B	0.012	0.16012	B	0.000148	0.49130	D	0.215362	0.536448	0.81001	D	2.125	0.59049	M	1.71	0.26737	T	-1.41	0.34992	N	0.653	0.69387	-1.0987	0.04252	T	0.058	0.24502	T	10	0.093880504	0.16649	T	0.012016	0.30212	T	0.084	0.24469	0.175	0.08135	0.455605821045	0.45183	0.29498346277784404	0.29411	0.634426790786	0.57297	0.425430774689	0.28584	T	0.029681	0.21214	T	-0.261813	0.12688	T	-0.307876	0.43887	T	0.221816875801456	0.21554	T	0.80242	0.45897	T	0.08941026	0.20890	0.09783726	0.23302	0.08941026	0.20890	0.09783726	0.23302	-2.4	0.05133	T	.	.	0.238	0.50082	B	.;.;.;.	.;.;.;.	3.169757	0.42985	21.6	0.99569056560606051	0.72258	0.95284	0.64125	D	AEFGBI	0.429080	0.49235	N	-0.0852495324593219	0.38038	2.22189	0.0892275637680481	0.44005	2.690712	0.999983793672443	0.51787	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	4.792000	0.62161	11.140000	0.87044	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	1.0:0.0:0.0:0.0	14.530	0.67502	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	.	.	.	.	.	.	.	.	0.02632	1471.33	34	chr11	114405714	.	A	G	1471.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=733;ExcessHet=0;FS=4.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-1.622;SOR=0.367	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1485,0,1433	18	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	0.07895	4554.79	38	chr11	114530269	.	G	C	4554.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.51;DP=950;ExcessHet=0.3672;FS=2.216;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.975;SOR=0.828	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1451,0,1591	16	0	3	0
chr11	117181862	117181862	A	C	exonic	SIDT2	.	nonsynonymous SNV	SIDT2:NM_001040455:exon3:c.A361C:p.T121P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00935654892597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.18691	T	0.289	0.23365	T	0.002	0.68779	B	0.013	0.65999	B	0.000000	0.84330	D	0.000000	0.999976	0.53665	D	1.445	0.36358	L	2.2	0.18875	T	-1.16	0.49519	N	0.595	0.61426	-1.1329	0.01648	T	0.081	0.31972	T	10	0.20899123	0.37247	T	0.009357	0.24553	T	0.125	0.34456	0.312	0.28612	0.259761712551	0.25597	0.40172421063259917	0.40088	1.4418905105	0.85993	0.532911777496	0.43445	T	0.019309	0.16701	T	-0.0129902	0.49847	T	-0.256436	0.49178	T	0.903949916362762	0.55728	D	0.813919	0.76101	T	0.4095273	0.61386	0.22074287	0.46861	0.4095273	0.61387	0.22074287	0.46860	-4.783	0.34392	T	.	.	0.222	0.52219	B	.;.;.;.;.;.	.;.;.;.;.;.	3.158701	0.42787	21.6	0.9925564907920249	0.57022	0.89840	0.50569	D	AEFDBCI	0.760072	0.69820	D	-0.0753482558944013	0.38476	2.254085	0.0406328139637303	0.41622	2.503631	0.999999843486306	0.74766	0.743674	0.98306	0	0.635938	0.57008	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	5.14	4.02	0.45968	3.821000	0.55401	4.128000	0.42014	0.756000	0.94297	1.000000	0.71638	0.997000	0.33255	0.996000	0.76049	0.9261:0.0:0.0739:0.0	10.846	0.45950	591	0.68823	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1828.33	39	chr11	117181862	.	A	C	1828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.444;DP=783;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.986;SOR=0.754	GT:AD:DP:GQ:PL	0/1:70,69:139:99:1842,0,1937	18	0	1	0
chr11	117381775	117381775	C	G	exonic	CEP164	.	nonsynonymous SNV	CEP164:NM_001271933:exon12:c.C1493G:p.P498R,CEP164:NM_014956:exon13:c.C1484G:p.P495R	Nephronophthisis 15, Autosomal recessive	11	1503	8	0	0	8	0.00265428	.	.	.	237108	Nephronophthisis_15|not_provided	MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	.	0.0177716	0.0107	0.0006	0.0004	0.0260	0	0.0001	0.0063	0.0495	0.0060154	930	154602	rs59763167	0.0033	0.0033	0.0022	0.0043	0.0425	0.0032	0.0031	0.0413	0.0408	0.0005	9.342e-05	3.894e-05	0.0173	0	0.0011	0.0001	0.0053	0.0425	0.0024	0.0024	0.0016	0.0032	0.0483	0.0022	0.0021	0.0432	0.0413	0.0005	0	0.0001	0	0.0191	0	0.0034	0.0001	0.0009	0.0483	0.051	0.39334	T	0.608	0.07741	T	0.899	0.49514	P	0.648	0.52381	P	0.934608	0.07556	N	1.035800	1	0.08975	N	1.525	0.38595	L	0.31	0.58613	T	-0.05	0.07736	N	0.103	0.08646	-0.8353	0.52956	T	0.218	0.58111	T	10	0.002693832	0.00042	T	.	.	.	0.151	0.39764	.	.	0.287603790349	0.28378	0.13610659750155427	0.13534	0.118128769818	0.13296	0.271961629391	0.06399	T	0.007897	0.07275	T	-0.54896	0.00296	T	-0.530619	0.19226	T	0.00715866890247695	0.00082	T	0.542346	0.18433	T	0.032223687	0.03207	0.04674331	0.06584	0.032223687	0.03207	0.04674331	0.06583	-3.613	0.18045	T	.	.	0.078	0.06756	B	.	.	-0.469543	0.01966	0.170	0.96786173296348332	0.31094	0.02067	0.06161	N	AEFDBI	0.045355	0.07407	N	-0.728184781383509	0.15232	0.7658717	-0.967632724114321	0.10518	0.5301902	0.509810326501858	0.21010	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	3.67	-1.37	0.08582	-1.953000	0.01617	-4.644000	0.02054	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3568:0.0:0.6432	7.228	0.25203	796	0.45353	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005086	0.000000	0.001362	0.008824	0.000000	0.000000	0.006135	0.011538	0.02632	329.33	39	chr11	117381775	.	C	G	329.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.294;DP=689;ExcessHet=0;FS=6.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.462;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,13:25:99:0|1:117381773_T_C:343,0,310:117381773	18	0	1	0
chr11	120229142	120229142	G	C	exonic	OAF	.	stoploss	OAF:NM_178507:exon4:c.G822C:p.X274Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	6.84e-07	0	1.384e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.158	0.39760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.422142	0.01658	T	-0.844154	0.01038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.234911	0.06159	2.605	0.68999278757594085	0.08832	0.10112	0.15707	N	AEFDBHCI	.	.	.	0.143390769993653	0.48499	3.061455	-0.282192133026185	0.28685	1.601251	0.99998779668301	0.51787	0.183328	0.03972	0	0.255197	0.04854	0	0.110339	0.03155	1	0.156572	0.04068	2	0.0552121	0.12773	3.19	-0.069	0.13086	-0.019000	0.12487	0.720000	0.21004	0.662000	0.56354	0.000000	0.06391	0.001000	0.17328	0.019000	0.11356	0.4424:0.0:0.5576:0.0	5.651	0.16892	389	0.83303	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	590.33	39	chr11	120229142	.	G	C	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.811;DP=675;ExcessHet=0;FS=1.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.518;SOR=0.412	GT:AD:DP:GQ:PL	0/1:18,25:43:99:604,0,495	18	0	1	0
chr11	121153070	121153070	A	G	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon13:c.A4295G:p.K1432R,TBCEL-TECTA:NM_001378761:exon19:c.A5252G:p.K1751R	.	.	.	.	.	.	.	.	.	.	.	867367	Autosomal_recessive_nonsyndromic_hearing_loss_21|TECTA-related_disorder|not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_12	MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|.|MedGen:C3661900|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.175	0.0128157243644	.	0.000798722	0.0007	0.0001	0	0	0	0	0	0.0049	0.000511	79	154602	rs530918606	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	2.988e-05	0	0	0.0002	0	0	4.497e-06	0.0002	0.0051	0.0002	0.0002	5.138e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	7.215e-05	0	0	0	0	0	0	0	0	0.0054	0.543	0.06735	T	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.797888	0.34472	D	-0.71	0.01811	N	3.54	0.04799	T	-0.41	0.14000	N	0.41	0.45047	-0.8500	0.51968	T	0.020	0.08266	T	10	0.011598736	0.00253	T	0.012816	0.31723	T	0.175	0.44197	0.424	0.46857	0.59496020979	0.59174	0.14176989411148638	0.14099	0.288609674258	0.31261	0.614304423332	0.54924	T	0.077023	0.35556	T	-0.513135	0.00482	T	-0.508906	0.21428	T	0.086875888833087	0.10843	T	0.848415	0.52967	T	0.090684846	0.21227	0.11895681	0.28714	0.097531796	0.22990	0.10837117	0.26105	-2.727	0.07532	T	0.2226579595401887	0.30045	0.101	0.17657	B	.;.;.	.;.;.	3.329827	0.45838	22.2	0.99037517965722421	0.50939	0.91940	0.54593	D	AEFBI	0.364273	0.45287	N	0.139405804944767	0.48309	3.044949	0.162837530658978	0.47826	3.007079	0.0361894899102267	0.14234	0.487112	0.14033	0	0.563428	0.19063	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.33	4.13	0.47661	3.123000	0.50147	8.050000	0.76353	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.302000	0.24547	0.8549:0.1451:0.0:0.0	11.941	0.52188	764	0.49969	TILa domain|VWFC domain;TILa domain|VWFC domain;TILa domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	618.33	34	chr11	121153070	.	A	G	618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.161;DP=678;ExcessHet=0;FS=10.78;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=1.99;SOR=0.114	GT:AD:DP:GQ:PL	0/1:29,24:53:99:632,0,821	18	0	1	0
chr11	129864750	129864750	G	A	exonic	NFRKB	.	nonsynonymous SNV	NFRKB:NM_006165:exon25:c.C3950T:p.P1317L,NFRKB:NM_001143835:exon27:c.C3875T:p.P1292L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00391351551823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.70582	D	0.919	0.54136	P	0.321	0.48197	B	0.000004	0.62929	D	0.107337	0.999999	0.58761	D	0.805	0.20218	L	.	.	.	-1.56	0.37759	N	0.358	0.53620	-0.8387	0.52733	T	0.149	0.47575	T	9	0.2191158	0.38572	T	0.003914	0.09211	T	0.178	0.44724	0.145	0.04843	0.043077524339	0.03247	0.21330606650148218	0.21246	1.01813655237	0.75012	0.772199213505	0.77755	T	0.042435	0.26181	T	0.0622616	0.59896	T	-0.148342	0.59391	T	0.740932338499828	0.42787	D	0.928407	0.73561	D	0.250796	0.48084	0.25228888	0.50855	0.250796	0.48084	0.25228888	0.50854	-4.269	0.27740	T	.	.	0.096	0.15385	B	.;.;.	.;.;.	5.262019	0.88351	29.6	0.99884176763252663	0.95970	0.94597	0.61686	D	AEFDBCI	0.712608	0.66568	D	0.466656487297983	0.65156	4.786973	0.567786625049011	0.72642	5.84243	0.999999972809549	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	6.038000	0.70604	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.805	0.96520	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2291.33	39	chr11	129864750	.	G	A	2291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=801;ExcessHet=0;FS=11.236;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.952;SOR=0.412	GT:AD:DP:GQ:PL	0/1:73,81:154:99:2305,0,1979	18	0	1	0
chr12	4627446	4627446	G	A	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.C1456T:p.R486C,AKAP3:NM_006422:exon5:c.C1456T:p.R486C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00240830151806	.	0.000199681	3.316e-05	9.634e-05	0	0	0	4.52e-05	0	0	3.23e-05	5	154602	rs544521521	1.779e-05	1.779e-05	2.042e-05	1.513e-05	3.478e-05	1.238e-05	1.052e-05	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	1.656e-05	3.478e-05	3.94e-05	3.937e-05	5.14e-05	2.686e-05	7.22e-05	1.715e-05	1.129e-05	1.914e-05	1.031e-05	7.22e-05	0	0	0	0	0	0	4.41e-05	0	0	0.168	0.23007	T	0.202	0.27414	T	0.0	0.02946	B	0.0	0.01387	B	0.189330	0.03239	N	1.584710	1	0.08975	N	-1.39	0.00611	N	3.19	0.07353	T	1.28	0.00973	N	0.073	0.04668	-0.9715	0.36883	T	0.008	0.02638	T	10	0.027986377	0.00936	T	0.002408	0.04729	T	0.011	0.01250	0.548	0.66296	0.124217242631	0.12060	0.07153102202310653	0.07090	0.164878734675	0.18604	0.27451261878	0.06739	T	0.002619	0.02014	T	-0.511815	0.00490	T	-0.791435	0.02125	T	0.0280312091148512	0.01693	T	0.255674	0.03967	T	0.046129607	0.07667	0.03517747	0.02721	0.046129607	0.07667	0.03517747	0.02721	-4.802	0.34615	T	.	.	0.076	0.06159	B	.;.	.;.	0.401800	0.07729	4.410	0.65827763670060857	0.07883	0.00128	0.00795	N	AEFBI	0.027715	0.02315	N	-1.50006019006897	0.01850	0.08113272	-1.47398754623455	0.02559	0.1179286	0.00363945083627561	0.10212	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	-3.37	0.04591	-0.296000	0.08323	-1.236000	0.05946	-0.040000	0.17491	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2656:0.4195:0.1391:0.1759	2.453	0.04246	680	0.59965	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, 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	.	.	.	.	.	.	.	.	0.02632	2234.33	169	chr12	4627446	.	G	A	2234.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=2814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.433;SOR=0.685	GT:AD:DP:GQ:PL	0/1:79,85:164:99:2248,0,1867	18	0	1	0
chr12	10825592	10825592	C	T	exonic	TAS2R10	.	nonsynonymous SNV	TAS2R10:NM_023921:exon1:c.G678A:p.M226I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00576117022313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.339	0.18071	T	0.338	0.33405	B	0.456	0.46291	P	0.000171	0.48594	D	0.136757	0.915916	0.27404	N	1.38	0.34346	L	5.85	0.00643	T	-2.62	0.56301	D	0.136	0.13341	-0.9358	0.43272	T	0.004	0.01295	T	10	0.19957632	0.35971	T	0.005761	0.14952	T	0.090	0.26093	0.642	0.77903	0.134241683229	0.13084	0.06612702022108405	0.06551	0.0341080048368	0.03582	0.274387776852	0.06721	T	0.043091	0.26392	T	-0.286774	0.09962	T	-0.649707	0.08975	T	0.913980603218079	0.57044	D	.	.	.	0.22002131	0.44548	0.22740577	0.47749	0.22002131	0.44548	0.22740577	0.47748	-3.018	0.10376	T	.	.	0.389	0.58936	A	.	.	1.623298	0.20733	14.88	0.96833891435475461	0.31274	0.11849	0.16901	N	AEFI	0.076839	0.15466	N	-0.607087503059365	0.18730	0.9747847	-0.601932808638129	0.19444	1.043202	3.29030729013591E-4	0.06540	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.81	2.8	0.31881	-0.365000	0.07626	-1.230000	0.05962	-0.314000	0.05961	0.005000	0.17040	0.000000	0.08366	0.869000	0.41347	0.4886:0.5114:0.0:0.0	10.317	0.42925	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1734.33	33	chr12	10825592	.	C	T	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.499;DP=759;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.027;SOR=0.672	GT:AD:DP:GQ:PL	0/1:61,71:132:99:1748,0,1579	18	0	1	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	28882.6	63	chr12	11353413	.	G	*	28882.6	.	AC=4;AF=0.143;AN=28;BaseQRankSum=1.73;DP=5063;ExcessHet=0.0911;FS=8.727;InbreedingCoeff=0.2733;MLEAC=5;MLEAF=0.179;MQ=50.96;MQRankSum=0.41;QD=14.59;ReadPosRankSum=0.493;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,126:135:99:.:.:746,261,189:.	11	1	2	5
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1923	14621.9	35	chr12	11353469	.	A	*	14621.9	.	AC=5;AF=0.192;AN=26;BaseQRankSum=1.62;DP=4329;ExcessHet=0.3267;FS=13.408;InbreedingCoeff=0.1767;MLEAC=7;MLEAF=0.269;MQ=52.52;MQRankSum=-1.782;QD=11.97;ReadPosRankSum=-0.315;SOR=1.577	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,54:56:99:1|1:11353411_TGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTG_T:1180,178,0:11353411	10	2	1	6
chr12	11353474	11353474	C	0	exonic	PRB1	.	.	.	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	15923.7	37	chr12	11353474	.	C	*	15923.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=1.66;DP=4060;ExcessHet=0;FS=2.46;InbreedingCoeff=0.6232;MLEAC=7;MLEAF=0.292;MQ=54.21;MQRankSum=-1.359;QD=17.21;ReadPosRankSum=0.621;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,54:56:99:1|1:11353411_TGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTG_T:1180,178,0:11353411	9	2	1	7
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	0.03571	1367.59	299	chr12	11393752	.	C	T	1367.59	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.327;DP=4960;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.1016;MLEAC=1;MLEAF=0.036;MQ=55.78;MQRankSum=-0.811;QD=11.03;ReadPosRankSum=1.46;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,54:124:99:0|1:11393752_C_T:1379,0,1470:11393752	13	0	1	5
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3102.82	96	chr12	12477735	.	C	*	3102.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.45;DP=1056;ExcessHet=0.3441;FS=2.515;InbreedingCoeff=0.1244;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=2.14;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,38:85:99:.:.:1437,0,1858:.	14	0	5	0
chr12	13211542	13211542	T	G	exonic	EMP1	.	nonsynonymous SNV	EMP1:NM_001423:exon2:c.T32G:p.V11G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.764	0.265417233147	.	0.00159744	0.0012	0.0002	0.0059	0	0	0.0011	0	0.0003	0.0010608	164	154602	rs147282605	0.0012	0.0012	0.0012	0.0011	0.0041	0.0011	0.0011	0.0036	0.0035	0.0004	0.0041	3.827e-05	0	3.744e-05	0.0028	0.0012	0.0014	0.0004	0.0010	0.0010	0.0011	0.0009	0.0031	0.0008	0.0008	0.0024	0.0021	0.0003	0	0.0031	0	0	0	0.0034	0.0012	0.0019	0.0002	0.006	0.78490	D	0.009	0.79402	D	0.997	0.70673	D	0.952	0.69102	D	0.000536	0.43581	D	0.237292	1	0.81001	D	2.96	0.85114	M	-2.48	0.89071	D	-4.21	0.81985	D	0.442	0.60749	0.614	0.92076	D	0.803	0.93340	D	10	0.023023903	0.00591	T	0.265417	0.89673	D	0.764	0.92004	.	.	0.974378769274	0.97409	0.8690739417242321	0.86872	0.811444316157	0.66751	0.549664616585	0.45811	T	0.712728	0.91819	D	0.073392	0.61259	D	0.331173	0.89557	D	0.0873188312165031	0.10897	T	0.692631	0.33984	T	0.4240009	0.62357	0.59048384	0.76239	0.4240009	0.62357	0.59048384	0.76240	-7.675	0.58834	D	.	.	0.545	0.70130	A	.;.;.;.	.;.;.;.	4.151955	0.62284	24.4	0.98955195339616286	0.49208	0.92281	0.55351	D	AEFDGBCI	0.873045	0.79520	D	0.712245982466469	0.80436	7.293597	0.713503925572113	0.83404	8.012705	0.999999999999995	0.74766	0.730579	0.87903	0	0.627178	0.54094	0	0.527494	0.11647	0	0.648885	0.59868	0	.	.	6.16	6.16	0.99302	4.828000	0.62420	3.487000	0.38689	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.806	0.85530	733	0.53988	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.003788	0.05263	3842.83	39	chr12	13211542	.	T	G	3842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.88;DP=845;ExcessHet=0.119;FS=10.519;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=0.836;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,46:98:99:0|1:13211542_T_G:1690,0,1960:13211542	17	0	2	0
chr12	15501640	15501640	A	G	exonic	PTPRO	.	nonsynonymous SNV	PTPRO:NM_002848:exon5:c.A682G:p.I228V,PTPRO:NM_030667:exon5:c.A682G:p.I228V	Nephrotic syndrome, type 6, Autosomal recessive	3	1518	0	1	0	2	0.000658328	.	.	.	725025	not_provided|PTPRO-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0027	0.00159744	0.0028	0.0010	0.0016	0	0.0127	0.0034	0.0022	0	0.0027231	421	154602	rs117540301	0.0032	0.0032	0.0034	0.0031	0.0034	0.0032	0.0031	0.0033	0.0033	0.0004	0.0019	0.0007	0	0.0130	0.0003	0.0034	0.0025	1.16e-05	0.0027	0.0028	0.0024	0.0031	0.0034	0.0025	0.0024	0.0030	0.0029	0.0004	0	0.0020	0.0003	0	0.0127	0	0.0034	0.0014	0	0.121	0.27783	T	0.212	0.37589	T	0.132	0.29916	B	0.021	0.24832	B	0.000211	0.47681	D	0.000000	0.986726	0.42821	D	2.045	0.56016	M	3.64	0.04544	T	-0.3	0.11913	N	0.596	0.61511	-0.9111	0.46719	T	0.016	0.06664	T	10	0.009506106	0.00214	T	.	.	.	0.085	0.24743	.	.	0.379020345274	0.37515	0.22448935833672123	0.22363	0.258008406116	0.28354	0.547929167747	0.45565	T	0.104658	0.41442	T	-0.474368	0.00799	T	-0.454181	0.27237	T	0.0124632848575573	0.00205	T	0.870113	0.57479	D	0.09407616	0.22109	0.06429469	0.12864	0.09407616	0.22109	0.06429469	0.12864	-3.254	0.13841	T	.	.	0.101	0.24767	B	.;.;.	.;.;.	2.358979	0.30252	18.38	0.9933483486630319	0.59934	0.97794	0.77181	D	AEBI	0.665808	0.63449	D	0.0863758597678172	0.45828	2.832858	0.226309720158724	0.51313	3.314814	0.999974454736715	0.50053	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	4.71	4.71	0.59010	5.056000	0.64112	8.973000	0.78478	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.412	0.66694	807	0.43470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	377.33	33	chr12	15501640	.	A	G	377.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.89;DP=594;ExcessHet=0;FS=1.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.27;SOR=1.329	GT:AD:DP:GQ:PL	0/1:15,13:28:99:391,0,362	18	0	1	0
chr12	22513363	22513363	A	-	exonic	C2CD5	.	frameshift deletion	C2CD5:NM_001286174:exon8:c.969delT:p.S323Rfs*13,C2CD5:NM_001385329:exon8:c.882delT:p.S294Rfs*13,C2CD5:NM_001385330:exon8:c.882delT:p.S294Rfs*13,C2CD5:NM_001286173:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001286175:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001286176:exon9:c.969delT:p.S323Rfs*13,C2CD5:NM_001286177:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001385323:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001385324:exon9:c.969delT:p.S323Rfs*13,C2CD5:NM_001385325:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001385326:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_001385327:exon9:c.969delT:p.S323Rfs*13,C2CD5:NM_001385328:exon9:c.942delT:p.S314Rfs*13,C2CD5:NM_014802:exon9:c.969delT:p.S323Rfs*13,C2CD5:NM_001385322:exon10:c.1161delT:p.S387Rfs*13,C2CD5:NM_001385331:exon10:c.264delT:p.S88Rfs*13,C2CD5:NM_001385333:exon10:c.264delT:p.S88Rfs*13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1412.29	33	chr12	22513362	.	CA	C	1412.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.171;DP=687;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=-0.327;SOR=0.542	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1426,0,1210	18	0	1	0
chr12	31662268	31662268	G	A	splicing	ETFBKMT	NM_001135864:exon2:c.314+1G>A;NM_173802:exon2:c.314+1G>A;NM_001135863:exon2:c.314+1G>A	.	.	.	430	1076	16	0	0	16	0.00738007	1.0000	0.938	.	2806838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00299521	0.0039	0.0006	0.0042	0	0.0109	0.0040	0.0056	0.0041	0.0037645	582	154602	rs138229541	0.0046	0.0046	0.0045	0.0046	0.0118	0.0045	0.0044	0.0096	0.0087	0.0009	0.0051	0.0009	0	0.0090	0.0118	0.0047	0.0042	0.0042	0.0039	0.0039	0.0038	0.0040	0.0058	0.0036	0.0035	0.0048	0.0044	0.0010	0	0.0058	0.0003	0	0.0102	0.0170	0.0047	0.0071	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0376589	0.56737	T	0.285323	0.87407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.462280	0.91180	32	0.99512601099398945	0.68739	0.98234	0.80784	D	AEFDBHI	.	.	.	1.06525046212874	0.97435	16.12388	0.866655777243244	0.93950	12.396	0.999999999999974	0.74766	0.093781	0.02453	0	0.089529	0.02469	0	0.060301	0.00762	0	0.089874	0.02613	0	0.984515	0.91773	4.4	4.4	0.52402	9.020000	0.93181	9.487000	0.80890	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:1.0:0.0	17.168	0.86700	911	0.21964	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3032.83	35	chr12	31662268	.	G	A	3032.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.967;DP=903;ExcessHet=0.119;FS=0.949;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.142;SOR=0.614	GT:AD:DP:GQ:PL	0/1:76,54:130:99:1373,0,2106	17	0	2	0
chr12	40444545	40444545	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	.	.	0.000199681	0.0024	0	0.0042	0	0	0.0010	0.0055	0.0046	0.0002587	40	154602	rs202204973	0.0004	0.0003	0.0003	0.0005	0.0052	0.0004	0.0004	0.0036	0.0030	0	0.0005	0.0020	0	7.314e-05	0.0052	0.0001	0.0005	0.0033	0.0004	0.0004	0.0002	0.0005	0.0033	0.0003	0.0003	0.0021	0.0017	7.221e-05	0	0.0007	0.0026	0.0002	0	0	0.0002	0.0009	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	889.33	38	chr12	40444545	.	C	T	889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.658;SOR=0.879	GT:AD:DP:GQ:PL	0/1:32,32:64:99:903,0,825	18	0	1	0
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2585.75	1164	chr12	40483175	.	GAAC	G	2585.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=6.4;DP=14253;ExcessHet=0.3672;FS=6.847;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.67;MQRankSum=-16.38;QD=1;ReadPosRankSum=-9.998;SOR=1.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:286,51:337:99:0|1:40483128_A_G:1281,0,11856:40483128	16	0	3	0
chr12	40483182	40483208	AGCTGGGGTTACAGGGACAACTGAACT	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	961	18	0	0	18	0.00927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244476502	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0043	0.0002	0.0003	0.0005	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1334.54	1338	chr12	40483181	.	CAGCTGGGGTTACAGGGACAACTGAACT	C	1334.54	.	AC=2;AF=0.056;AN=36;BaseQRankSum=7.49;DP=14350;ExcessHet=0.119;FS=5.203;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=59.67;MQRankSum=-7.494;QD=0.84;ReadPosRankSum=-7.706;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,47:371:99:0|1:40483128_A_G:998,0,13463:40483128	16	0	2	1
chr12	40483459	40483459	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	543	972	7	0	0	7	0.0035879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0683513819399	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349026907	0	5.005e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0080	0.0005	0.0008	0.0035	0.0005	0.0005	0.0025	0.0021	0.0004	0	0.0035	0	0.0009	0.0013	0.0092	0.0002	0	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	475.71	1132	chr12	40483459	.	G	C	475.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=4.16;DP=14777;ExcessHet=0;FS=2.305;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.08;MQRankSum=-15.49;QD=1.42;ReadPosRankSum=2.56;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,34:336:99:0|1:40483459_G_C:489,0,12594:40483459	17	0	1	1
chr12	40483465	40483465	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	971	7	0	0	7	0.00359159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0715477764836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231916172	7.232e-06	5.279e-05	2.24e-06	1.305e-05	7.908e-06	2.6e-06	1.71e-06	2.84e-06	1.87e-06	0	0	0	0	0	0	7.908e-06	0	0	0.0007	0.0079	0.0005	0.0010	0.0039	0.0006	0.0005	0.0028	0.0024	0.0005	0	0.0039	0	0.0009	0.0017	0.0096	0.0001	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	479.71	1132	chr12	40483465	.	G	A	479.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=6.03;DP=14775;ExcessHet=0;FS=4.316;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.04;MQRankSum=-15.22;QD=1.43;ReadPosRankSum=1.08;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,34:336:99:0|1:40483459_G_C:493,0,12589:40483459	17	0	1	1
chr12	40483476	40483476	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	544	971	7	0	0	7	0.00359159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268643527	1.205e-06	5.072e-05	0	2.609e-06	1.317e-06	0	0	.	.	0	0	0	0	0	0	1.317e-06	0	0	0.0008	0.0079	0.0006	0.0010	0.0040	0.0006	0.0006	0.0029	0.0025	0.0006	0.0017	0.0040	0	0.0009	0.0015	0.0048	0.0002	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	541.71	1132	chr12	40483476	.	A	G	541.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=9.09;DP=14931;ExcessHet=0;FS=4.371;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.69;MQRankSum=-15.15;QD=1.62;ReadPosRankSum=-2.183;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,35:334:99:0|1:40483459_G_C:555,0,12445:40483459	17	0	1	1
chr12	40483482	40483482	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	542	973	7	0	0	7	0.00358423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466228860	0	5.14e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0071	0.0005	0.0008	0.0033	0.0005	0.0005	0.0023	0.0020	0.0004	0.0015	0.0033	0	0.0011	0.0015	0	0.0002	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	549.71	1132	chr12	40483482	.	A	G	549.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.531;DP=14935;ExcessHet=0;FS=4.374;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.59;MQRankSum=-15.1;QD=1.66;ReadPosRankSum=-3.85;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,35:332:99:0|1:40483459_G_C:563,0,12360:40483459	17	0	1	1
chr12	40483507	40483507	T	-	exonic	MUC19	.	unknown	UNKNOWN	.	554	959	5	0	4	9	0.0026001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.233e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0008	0.0001	0.0001	0.0004	0.0003	0.0001	0	0.0008	0	0	0.0007	0	8.636e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	70.29	1205	chr12	40483506	.	AT	A	70.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.23;DP=15617;ExcessHet=0;FS=2.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.07;MQRankSum=-14.86;QD=0.21;ReadPosRankSum=-5.881;SOR=1.064	GT:AD:DP:GQ:PL	0/1:303,24:327:84:84,0,12762	18	0	1	0
chr12	40483548	40483548	-	CAAGGACAACTGGGCCATCGGCTGTG	exonic	MUC19	.	unknown	UNKNOWN	.	547	972	2	0	1	3	0.00102775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294871389	0	2.818e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.574e-05	0.0005	4.239e-05	9.074e-05	0.0003	2.858e-05	1.948e-05	4.488e-05	1.862e-05	3.56e-05	0	0.0003	0	0	0.0003	0	2.539e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1821.29	1205	chr12	40483548	.	A	ACAAGGACAACTGGGCCATCGGCTGTG	1821.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.557;DP=15604;ExcessHet=0;FS=5.513;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.44;MQRankSum=-17.15;QD=4.66;ReadPosRankSum=-10.72;SOR=1.062	GT:AD:DP:GQ:PL	0/1:324,67:391:99:1835,0,13403	18	0	1	0
chr12	40483556	40483556	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	550	701	240	30	1	301	0.176263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0586116955523	.	.	.	.	.	.	.	.	.	.	.	.	.	rs2933357	1.2e-06	1.368e-06	0	2.599e-06	.	0	0	.	.	0	0	0	0	0	0	0	3.666e-05	0	1.983e-05	9.211e-05	1.292e-05	2.708e-05	0.0001	5.27e-06	2.46e-06	2.271e-05	9.11e-06	0	0	0.0001	0	0	9.475e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	94365.2	1205	chr12	40483556	.	G	A	94365.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.105;DP=16450;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=1;MLEAF=0.026;MQ=59.48;MQRankSum=0.007;QD=13.54;ReadPosRankSum=-0.441;SOR=0.719	GT:AD:DP:GQ:PL	0/1:0,16:339:99:9904,10053,13764	18	0	1	0
chr12	40483629	40483629	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	549	943	27	0	3	30	0.014114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.855e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.607e-05	0.0002	2.809e-05	4.451e-05	0.0002	1.355e-05	8.66e-06	6.176e-05	3.281e-05	0	0	0.0002	0	0	0.0001	0	1.606e-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	.	.	.	.	.	.	.	.	0.02632	627.33	1349	chr12	40483629	.	A	G	627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=14168;ExcessHet=0;FS=10.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.2;MQRankSum=-16.39;QD=1.79;ReadPosRankSum=1.36;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:333,17:350:99:0|1:40483628_C_T:641,0,13225:40483628	18	0	1	0
chr12	40483632	40483632	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	552	940	27	0	3	30	0.0141584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.061e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.33e-05	0.0002	2.809e-05	5.936e-05	0.0002	1.854e-05	1.22e-05	6.188e-05	3.284e-05	2.581e-05	0	0.0002	0	0	0.0001	0	1.606e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	621.71	1357	chr12	40483632	.	A	G	621.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.132;DP=14176;ExcessHet=0;FS=10.981;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.26;MQRankSum=-16.43;QD=1.66;ReadPosRankSum=0.865;SOR=1.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,39:374:99:0|1:40483628_C_T:635,0,13309:40483628	17	0	1	1
chr12	40483637	40483637	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	563	934	22	0	3	25	0.0116402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0131922827754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.826e-06	2.059e-05	6.724e-06	2.613e-06	5.277e-06	1.13e-06	7.6e-07	1.24e-06	8.3e-07	0	0	0	0	0	0	5.277e-06	0	0	3.554e-05	0.0002	2.764e-05	4.389e-05	0.0002	1.339e-05	8.55e-06	6.134e-05	3.269e-05	0	0	0.0002	0	0	0.0001	0	1.574e-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	.	.	.	.	.	.	.	.	0.02632	594.33	1328	chr12	40483637	.	G	A	594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.521;DP=14134;ExcessHet=0;FS=9.136;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.33;MQRankSum=-17.2;QD=1.64;ReadPosRankSum=-0.252;SOR=1.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,38:363:99:0|1:40483628_C_T:608,0,13253:40483628	18	0	1	0
chr12	40483638	40483638	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	572	923	22	0	5	27	0.0117773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs537314407	0.0003	0.0007	0.0003	0.0002	0.0121	0.0002	0.0002	0.0107	0.0102	0.0121	0	0	0	0	0	1.056e-05	0.0004	6.119e-05	0.0050	0.0088	0.0051	0.0050	0.0153	0.0047	0.0045	0.0142	0.0137	0.0153	0	0.0020	0	0	0.0002	0	4.734e-05	0.0031	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	.	.	.	.	.	.	.	.	0.02778	602.71	1323	chr12	40483638	.	G	A	602.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.6;DP=14125;ExcessHet=0;FS=9.118;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=58.31;MQRankSum=-17.09;QD=1.79;ReadPosRankSum=-0.406;SOR=1.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:321,16:337:99:0|1:40483628_C_T:616,0,13165:40483628	17	0	1	1
chr12	40483656	40483656	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	553	948	19	0	2	21	0.00992167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319831132	6.013e-06	6.163e-06	1.117e-05	0	0.0002	1.76e-06	1.28e-06	8.255e-05	5.003e-05	0	0	0	0	0	0	0	3.67e-05	0.0002	3.263e-05	0.0002	3.145e-05	3.389e-05	0.0003	1.062e-05	6.14e-06	8.086e-05	4.28e-05	0	0	0.0003	0	0	0	0	1.798e-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	.	.	.	.	.	.	.	.	0.02632	522.33	889	chr12	40483656	.	A	G	522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=12861;ExcessHet=0;FS=5.592;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.41;MQRankSum=-18.16;QD=1.48;ReadPosRankSum=-3.496;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,36:353:99:0|1:40483628_C_T:536,0,13202:40483628	18	0	1	0
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	3901.31	1334	chr12	40487346	.	A	T	3901.31	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.437;DP=19472;ExcessHet=0.7564;FS=26.86;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.67;MQRankSum=-23.42;QD=0.98;ReadPosRankSum=5.23;SOR=3.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:634,68:702:99:0|1:40487346_A_T:830,0,26324:40487346	14	0	4	1
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	3993.93	1334	chr12	40487347	.	G	C	3993.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.22;DP=19442;ExcessHet=0.7564;FS=29.934;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.44;MQRankSum=-23.04;QD=1;ReadPosRankSum=7.14;SOR=3.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:632,68:700:99:0|1:40487346_A_T:827,0,26404:40487346	14	0	4	1
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	5607.37	1334	chr12	40487354	.	G	A	5607.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.26;DP=19611;ExcessHet=1.3;FS=27.943;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=56.47;MQRankSum=-24.28;QD=0.97;ReadPosRankSum=8.34;SOR=3.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:642,68:710:99:0|1:40487346_A_T:807,0,26725:40487346	14	0	5	0
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	4909.93	1334	chr12	40487370	.	C	G	4909.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.03;DP=19470;ExcessHet=0.7564;FS=32.19;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.17;MQRankSum=-23.89;QD=1.22;ReadPosRankSum=8.49;SOR=3.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:671,68:739:99:0|1:40487346_A_T:721,0,27928:40487346	14	0	4	1
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	5614.93	1334	chr12	40487373	.	A	G	5614.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=3.24;DP=19460;ExcessHet=0.7564;FS=24.439;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.08;MQRankSum=-23.96;QD=1.41;ReadPosRankSum=8.25;SOR=3.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:667,68:735:99:0|1:40487346_A_T:734,0,27760:40487346	14	0	4	1
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	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	.	.	.	.	.	.	.	.	0.1111	5568.93	1334	chr12	40487375	.	G	C	5568.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.33;DP=19470;ExcessHet=0.7564;FS=27.016;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=56.02;MQRankSum=-24.04;QD=1.4;ReadPosRankSum=8.14;SOR=3.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:663,68:731:99:0|1:40487346_A_T:746,0,27592:40487346	14	0	4	1
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	6029.93	1334	chr12	40487377	.	C	G	6029.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.56;DP=19511;ExcessHet=0.7564;FS=27.016;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=55.99;MQRankSum=-23.64;QD=1.52;ReadPosRankSum=7.54;SOR=3.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:663,68:731:99:0|1:40487346_A_T:746,0,27592:40487346	14	0	4	1
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	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	.	.	.	.	.	.	.	.	0.1053	5797.43	1334	chr12	40487388	.	C	G	5797.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.241;DP=19556;ExcessHet=0.7564;FS=27.827;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=56.14;MQRankSum=-25.65;QD=1.46;ReadPosRankSum=5.84;SOR=3.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:670,68:738:99:0|1:40487346_A_T:726,0,27883:40487346	15	0	4	0
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	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	.	.	.	.	.	.	.	.	0.1111	6723.93	1334	chr12	40487403	.	G	T	6723.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-6.59;DP=19624;ExcessHet=0.7564;FS=22.397;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=55.86;MQRankSum=-26.28;QD=1.66;ReadPosRankSum=2.05;SOR=2.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:698,68:766:99:0|1:40487346_A_T:643,0,29074:40487346	14	0	4	1
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	7982.25	1334	chr12	40487418	.	G	C	7982.25	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-5.558;DP=20383;ExcessHet=1.3;FS=14.897;InbreedingCoeff=-0.1692;MLEAC=5;MLEAF=0.139;MQ=55.59;MQRankSum=-28.69;QD=1.4;ReadPosRankSum=-3.687;SOR=2.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:681,68:754:99:.:.:668,0,28763:.	13	0	5	1
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7676.39	1334	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	7676.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.087;DP=20278;ExcessHet=0.7564;FS=13.759;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=55.27;MQRankSum=-26.51;QD=1.87;ReadPosRankSum=-6.728;SOR=1.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:693,65:758:99:0|1:40487346_A_T:537,0,28891:40487346	15	0	4	0
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	55498.9	1319	chr12	40487424	.	T	TTGG	55498.9	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=5;MLEAF=0.132;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:694,0:694:25:.:.:1396,0,28891:.	14	0	5	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1385.93	216	chr12	40509053	.	T	A	1385.93	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.103;DP=3219;ExcessHet=1.3;FS=2.065;InbreedingCoeff=-0.3398;MLEAC=7;MLEAF=0.35;MQ=59.41;MQRankSum=-11.22;QD=1.61;ReadPosRankSum=2.26;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,26:178:99:0|1:40509053_T_A:634,0,6298:40509053	5	0	5	9
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1396.34	219	chr12	40509056	.	G	A	1396.34	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.348;DP=3149;ExcessHet=1.3;FS=2.086;InbreedingCoeff=-0.3341;MLEAC=7;MLEAF=0.35;MQ=59.38;MQRankSum=-11.72;QD=1.59;ReadPosRankSum=2.49;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,27:181:99:0|1:40509053_T_A:670,0,6379:40509053	5	0	5	9
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1340.22	217	chr12	40509061	.	G	C	1340.22	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.07;DP=3190;ExcessHet=1.3;FS=0.986;InbreedingCoeff=-0.3424;MLEAC=7;MLEAF=0.35;MQ=59.42;MQRankSum=-11.56;QD=1.52;ReadPosRankSum=2.14;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,27:180:99:0|1:40509053_T_A:673,0,6343:40509053	5	0	5	9
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1357.69	217	chr12	40509062	.	A	C	1357.69	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.081;DP=3187;ExcessHet=2.0135;FS=0.989;InbreedingCoeff=-0.3665;MLEAC=8;MLEAF=0.4;MQ=59.41;MQRankSum=-11.47;QD=1.32;ReadPosRankSum=2.13;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,27:178:99:0|1:40509053_T_A:679,0,6259:40509053	4	0	6	9
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1399.28	221	chr12	40509076	.	G	A	1399.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.944;DP=2985;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.56;QD=1.61;ReadPosRankSum=1.76;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,28:178:99:0|1:40509076_G_A:693,0,6152:40509076	5	0	5	9
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1381.28	214	chr12	40509081	.	T	C	1381.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.285;DP=2965;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.6;QD=1.58;ReadPosRankSum=2.07;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,28:178:99:0|1:40509076_G_A:693,0,6152:40509076	5	0	5	9
chr12	40545398	40545398	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	432	1073	17	0	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00159744	0.0025	0.0022	0	0	0.0006	0.0047	0	0.0017	0.000815	126	154602	rs182952935	0.0030	0.0024	0.0030	0.0031	0.0162	0.0029	0.0029	0.0131	0.0120	0.0010	0.0024	0.0087	0	0.0003	0.0162	0.0031	0.0030	0.0026	0.0025	0.0025	0.0027	0.0024	0.0037	0.0023	0.0022	0.0034	0.0032	0.0008	0.0044	0.0022	0.0075	0	0.0003	0.0204	0.0037	0.0038	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	863.33	37	chr12	40545398	.	G	A	863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.469;DP=760;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.53;SOR=0.449	GT:AD:DP:GQ:PL	0/1:33,35:68:99:877,0,827	18	0	1	0
chr12	42446286	42446286	G	T	exonic	PPHLN1	.	nonsynonymous SNV	PPHLN1:NM_001364826:exon9:c.G1061T:p.R354L,PPHLN1:NM_001364825:exon10:c.G1199T:p.R400L,PPHLN1:NM_001364829:exon10:c.G1217T:p.R406L,PPHLN1:NM_001143787:exon11:c.G1274T:p.R425L,PPHLN1:NM_001364827:exon11:c.G1382T:p.R461L,PPHLN1:NM_001364831:exon11:c.G1238T:p.R413L,PPHLN1:NM_001364823:exon12:c.G1295T:p.R432L,PPHLN1:NM_016488:exon12:c.G1346T:p.R449L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00152117174528	.	.	9.381e-06	0	8.842e-05	0	0	0	0	0	6.5e-06	1	154602	rs781307689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.40319	T	0.334	0.18617	T	0.042	0.21471	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.16	0.13611	N	0.352	0.43126	-1.0295	0.20616	T	0.041	0.17530	T	7	0.05529663	0.06023	T	0.001521	0.02369	T	0.071	0.20720	0.303	0.27164	0.251116650651	0.24721	0.057274820244621494	0.05668	0.262470570892	0.28810	0.449866950512	0.31926	T	0.085674	0.37554	T	-0.108909	0.34950	T	-0.394217	0.34059	T	0.0318297896764545	0.02279	T	0.533547	0.17787	T	0.08000611	0.18310	0.115725756	0.27936	0.08000611	0.18309	0.115725756	0.27936	-2.711	0.07396	T	.	.	0.196	0.41753	B	.;.;.;.;.	.;.;.;.;.	0.165271	0.05550	2.010	0.89438858758279682	0.18797	0.00448	0.02174	N	AEFDBI	0.043643	0.06925	N	-1.21088413991653	0.04840	0.2193289	-1.30297218828058	0.04392	0.2070419	0.98854107969377	0.31551	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	0.158	0.158	0.14233	0.252000	0.18046	0.403000	0.18023	0.271000	0.18527	0.060000	0.21767	0.080000	0.22369	0.038000	0.14061	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1781.33	39	chr12	42446286	.	G	T	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=871;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.81;SOR=0.76	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1795,0,1848	18	0	1	0
chr12	44776143	44776143	C	T	exonic	NELL2	.	nonsynonymous SNV	NELL2:NM_001145108:exon8:c.G770A:p.R257Q,NELL2:NM_001145109:exon8:c.G767A:p.R256Q,NELL2:NM_001145107:exon9:c.G920A:p.R307Q,NELL2:NM_001145110:exon9:c.G839A:p.R280Q,NELL2:NM_006159:exon9:c.G770A:p.R257Q	.	429	1074	18	1	0	20	0.00922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0109592810215	0.0024	0.000798722	0.0026	0.0005	0.0009	0	0	0.0040	0.0022	0.0021	0.0025679	397	154602	rs111769386	0.0033	0.0033	0.0033	0.0033	0.0130	0.0032	0.0032	0.0106	0.0098	0.0005	0.0016	0.0243	0	0.0001	0.0130	0.0032	0.0043	0.0019	0.0023	0.0023	0.0025	0.0020	0.0031	0.0021	0.0020	0.0027	0.0026	0.0007	0	0.0012	0.0190	0	0.0003	0.0238	0.0031	0.0024	0.0015	0.293	0.15406	T	0.269	0.23501	T	0.024	0.21238	B	0.002	0.12992	B	0.002427	0.36574	N	0.215951	0.601037	0.33552	D	1.1	0.28011	L	-1.47	0.81559	T	-0.39	0.15379	N	0.192	0.30574	-0.4624	0.69987	T	0.311	0.68148	T	10	0.006328255	0.00143	T	0.010959	0.28083	T	0.070	0.20419	.	.	0.232442253697	0.22838	0.46111934328250176	0.46029	0.178714926814	0.20107	0.317323327065	0.13015	T	0.036663	0.24190	T	-0.374031	0.03395	T	-0.304919	0.44203	T	0.00925102773043949	0.00117	T	0.89551	0.76932	D	0.094063014	0.22106	0.06885488	0.14434	0.094063014	0.22106	0.06885488	0.14434	-6.622	0.51765	T	.	.	0.074	0.12084	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.498111	0.48928	22.7	0.99758235020177277	0.84851	0.90573	0.51861	D	AEFI	0.228846	0.35245	N	-0.0672611766374183	0.38835	2.280691	0.13015101717426	0.46098	2.861476	3.47503105987983E-4	0.06626	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.61	4.53	0.55009	3.029000	0.49397	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.0:0.8788:0.0:0.1212	13.149	0.58900	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	0.008056	0.010101	0.005435	0.008772	0.050000	0.008621	0.006098	0.003788	0.02632	827.33	37	chr12	44776143	.	C	T	827.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.52;DP=683;ExcessHet=0;FS=1.301;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=0.228;SOR=1.096	GT:AD:DP:GQ:PL	0/1:22,29:51:99:841,0,538	18	0	1	0
chr12	45439774	45439774	G	A	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001142679:exon20:c.G2626A:p.D876N	Scott syndrome, Autosomal recessive	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.00758786	0.0049	0.0294	0.0025	0	0.0588	0.0024	0.0053	0.0014	0.0014812	229	154602	rs142698881	0.0038	0.0036	0.0039	0.0036	0.0292	0.0037	0.0037	0.0276	0.0270	0.0292	0.0025	0.0031	5.597e-05	0.0087	0.0081	0.0031	0.0048	0.0011	0.0096	0.0096	0.0087	0.0105	0.0256	0.0092	0.0090	0.0243	0.0238	0.0256	0	0.0033	0.0026	0	0.0120	0	0.0029	0.0048	0.0008	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.61	0.71779	T	0.73	0.02068	N	0.087	0.06454	-1.0453	0.15738	T	0.070	0.28412	T	9	0.0030485094	0.00050	T	.	.	.	0.066	0.19193	.	.	0.27132560031	0.26736	.	.	.	.	.	.	.	.	.	.	-0.634406	0.00090	T	-0.665133	0.07924	T	0.000498877279932547	0.00004	T	0.342266	0.07430	T	.	.	.	.	.	.	.	.	-2.697	0.07278	T	.	.	0.106	0.19598	B	.	.	-0.519929	0.01804	0.141	0.15850329424960052	0.00403	0.00207	0.01180	N	AEFBI	0.023692	0.01356	N	-1.7810413769565	0.00593	0.025559	-1.87690325032569	0.00543	0.02409833	0.99399070254426	0.33443	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.22	-4.45	0.03298	-1.971000	0.01593	-1.044000	0.06505	-1.576000	0.00927	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.2058:0.1647:0.6295	5.668	0.16981	711	0.56613	.	.	.	.	.	.	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	0.003175	0.000000	0.013514	0.012658	0.000000	0.000000	0.000000	0.000000	0.02632	1411.33	74	chr12	45439774	.	G	A	1411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=1071;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.684;SOR=0.576	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1425,0,1308	18	0	1	0
chr12	47751134	47751134	A	C	exonic	RAPGEF3	.	nonsynonymous SNV	RAPGEF3:NM_001098532:exon5:c.T459G:p.H153Q,RAPGEF3:NM_001098531:exon6:c.T585G:p.H195Q,RAPGEF3:NM_006105:exon6:c.T459G:p.H153Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00574601615155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0073	0.0011	0.0010	0.0012	0.0010	0.0010	0.0012	0.0011	0.0011	0.0002	0.0008	0.0006	0.0005	0.0007	0.0012	0.0009	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0002	0.0001	0.0001	8.888e-05	0.0001	0	6.539e-05	0	0.0004	0.0010	0	0.0002	0	0.0002	0.567	0.08359	T	0.416	0.14284	T	0.0	0.11197	B	0.001	0.10090	B	0.605209	0.10919	N	0.794314	1	0.81001	D	0.715	0.18665	N	2.57	0.13552	T	-0.12	0.12661	N	0.182	0.21188	-0.9904	0.32500	T	0.011	0.04042	T	10	0.067524314	0.09421	T	0.005746	0.14892	T	0.043	0.11576	0.234	0.16305	0.230578612272	0.22657	0.08009767959997238	0.07944	0.197249531467	0.22098	0.437502563	0.30236	T	0.059206	0.31052	T	-0.240501	0.15284	T	-0.583239	0.14257	T	0.0200933664840749	0.00710	T	0.605739	0.22785	T	0.02163158	0.00775	0.028546162	0.01101	0.02163158	0.00775	0.028546162	0.01101	-1.089	0.01103	T	.	.	0.075	0.07889	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.993104	0.00781	0.025	0.79768435515302283	0.12892	0.02572	0.07117	N	AEFDBI	0.120213	0.23427	N	-1.42554533652461	0.02416	0.1066576	-1.48276246173804	0.02485	0.1143898	0.999999999909804	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.97	-9.93	0.00374	-1.113000	0.03407	-7.822000	0.01080	0.740000	0.86194	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.2217:0.0985:0.4856:0.1942	5.121	0.14191	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	.	.	.	.	.	.	.	.	0.02632	71.33	35	chr12	47751134	.	A	C	71.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.926;DP=742;ExcessHet=0;FS=67.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.817;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,25:102:85:0|1:47751134_A_C:85,0,1722:47751134	18	0	1	0
chr12	49604316	49604316	A	C	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon2:c.T319G:p.W107G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0598730629653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001172	0.39978	N	0.000000	0.987173	0.40547	D	2.695	0.78878	M	-1.07	0.76948	T	-13.0	0.99878	D	0.767	0.77413	0.177	0.85520	D	0.587	0.85184	D	9	0.86440694	0.85676	D	0.059873	0.67811	D	0.563	0.82118	0.677	0.81496	0.750485479121	0.74823	0.24589231387062935	0.24503	0.793989741297	0.65953	0.465345591307	0.34043	T	0.221814	0.58549	T	0.365567	0.87671	D	0.287335	0.87512	D	0.99968421459198	0.98483	D	0.686731	0.29555	T	0.8218973	0.85348	0.8730079	0.93074	0.8218973	0.85349	0.8730079	0.93074	-1.963	0.03044	T	.	.	0.659	0.73946	P	.;.	.;.	4.327802	0.66294	24.9	0.97838091548784545	0.36305	0.98255	0.80978	D	AEFDGI	0.509300	0.53882	D	0.647010613287773	0.76176	6.438263	0.631524743119864	0.77241	6.641619	0.949084542057079	0.27830	0.554377	0.28877	0	0.588066	0.40923	0	0.408882	0.06424	0	0.645665	0.59343	0	.	.	5.56	5.56	0.83678	4.745000	0.61820	9.246000	0.79455	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	12.418	0.54839	240	0.90628	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	35	chr12	49604316	.	A	C	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.006;DP=702;ExcessHet=0;FS=12.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-0.011;SOR=2.041	GT:AD:DP:GQ:PL	0/1:31,43:74:99:1230,0,765	18	0	1	0
chr12	49797342	49797342	G	A	exonic	NCKAP5L	.	nonsynonymous SNV	NCKAP5L:NM_001037806:exon8:c.C518T:p.P173L,NCKAP5L:NM_001368048:exon9:c.C518T:p.P173L	.	405	1113	4	0	0	4	0.00179372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0167115053929	.	0.00119808	0.0008	0.0001	0	0	0	0.0005	0.0014	0.0032	0.0005369	83	154602	rs569641492	0.0003	0.0003	0.0002	0.0004	0.0023	0.0003	0.0002	0.0020	0.0019	2.989e-05	4.484e-05	0.0028	2.519e-05	1.914e-05	0.0018	8.097e-05	0.0004	0.0023	0.0002	0.0002	0.0002	0.0001	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0	0.0029	0	0	0	7.353e-05	0.0009	0.0019	0.005	0.63226	D	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	0.870105	0.28220	N	.	.	.	0.86	0.46777	T	-1.32	0.32991	N	0.235	0.26475	-1.0487	0.14761	T	0.061	0.25310	T	9	0.007937312	0.00180	T	0.016712	0.38094	T	0.049	0.13647	.	.	0.0934897674506	0.08844	0.4862114763229234	0.48541	0.0817337950663	0.09202	0.579079866409	0.49955	T	.	.	.	-0.534607	0.00361	T	-0.546251	0.17687	T	0.034434857435904	0.02711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10352	B	.	.	1.694139	0.21581	15.26	0.86906148450138743	0.16854	0.80666	0.40245	D	AEFDGBI	0.107275	0.21378	N	-0.485533920443049	0.22555	1.20512	-0.341040248936727	0.26787	1.481902	0.999996422134219	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	3.19	0.35720	1.795000	0.38418	0.710000	0.20927	-0.710000	0.03952	0.992000	0.37556	0.996000	0.32793	0.029000	0.12982	0.1983:0.0:0.621:0.1807	4.359	0.10628	336	0.86165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	495.33	39	chr12	49797342	.	G	A	495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.56;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=-1.165;SOR=0.725	GT:AD:DP:GQ:PL	0/1:12,18:30:99:509,0,300	18	0	1	0
chr12	52491597	52491597	C	T	exonic	KRT6A	.	nonsynonymous SNV	KRT6A:NM_005554:exon2:c.G680A:p.S227N	Pachyonychia congenita 3	0	1511	11	0	0	11	0.00362677	.	.	.	2706501	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	.	.	.	0.0029	0.0002	0.0037	0.0353	0.0003	5.994e-05	0	0.0001	3.84e-05	1	26028	rs200763387	0.0003	0.0086	0.0003	0.0003	0.0198	0.0003	0.0003	0.0183	0.0177	0	0.0008	0	0.0198	0	0	0	0.0001	0.0001	0.0005	0.0088	0.0005	0.0006	0.0188	0.0004	0.0004	0.0151	0.0137	0	0	0.0010	0	0.0188	9.535e-05	0	1.471e-05	0	0.0002	0.216	0.19225	T	0.485	0.11725	T	0.097	0.25541	B	0.036	0.22909	B	0.136905	0.18430	N	0.534254	1	0.08975	N	1.15	0.29295	L	-3.01	0.92208	D	-0.94	0.25118	N	0.143	0.14338	-0.5535	0.66653	T	0.482	0.80225	T	10	0.0068231523	0.00155	T	.	.	.	0.146	0.38789	.	.	0.517724816906	0.51416	0.03803643722075957	0.03749	0.289404301963	0.31353	0.447429031134	0.31593	T	0.332673	0.70261	T	-0.140604	0.29794	T	-0.439744	0.28837	T	0.203941658139229	0.20631	T	0.040496	0.00282	T	0.11607999	0.27383	0.121500604	0.29314	0.11607999	0.27383	0.121500604	0.29313	-6.881	0.53158	T	0.14376647227056955	0.16369	0.127	0.26917	B	.	.	0.957221	0.13337	9.839	0.94018117166021387	0.24123	0.10178	0.15756	N	AEFBCI	0.068389	0.13489	N	-1.03725381542184	0.07840	0.3655751	-1.09421995583413	0.07813	0.3815623	0.999999459557404	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.26	-4.92	0.02848	0.219000	0.17426	.	.	0.573000	0.29008	0.000000	0.06391	0.000000	0.08366	0.704000	0.34264	0.084:0.2949:0.3924:0.2286	4.636	0.11908	759	0.50631	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	872.83	43	chr12	52491597	.	C	T	872.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.598;DP=1331;ExcessHet=0.119;FS=0.822;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.12;MQRankSum=-10.77;QD=1.41;ReadPosRankSum=-3.469;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,19:242:99:0|1:52491590_G_C:127,0,9239:52491590	17	0	2	0
chr12	52795715	52795715	C	A	exonic	KRT3	.	nonsynonymous SNV	KRT3:NM_057088:exon1:c.G328T:p.G110C	Meesmann corneal dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.100082881053	.	.	8.388e-06	0	0	0	0	1.535e-05	0	0	6.5e-06	1	154602	rs776973006	1.369e-06	2.053e-06	0	2.753e-06	9e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9e-07	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.014	0.62352	D	1.0	0.90584	D	0.94	0.67560	D	0.000595	0.43095	D	0.000000	0.997653	0.22567	N	3.745	0.94976	H	-5.12	0.98731	D	-1.65	0.39503	N	0.489	0.52297	0.841	0.94911	D	0.950	0.98368	D	10	0.6301134	0.68467	D	0.100083	0.77214	D	0.514	0.79217	0.446	0.50466	0.960643931646	0.96022	0.638443046292737	0.63778	0.140064507069	0.15782	0.408687949181	0.26275	T	0.090564	0.38612	T	0.202422	0.74118	D	0.0529888	0.73780	D	0.509369969682878	0.32974	D	0.244276	0.03572	T	0.13920048	0.32163	0.11903784	0.28733	0.13920048	0.32163	0.11903784	0.28732	-8.489	0.64357	D	.	.	0.158	0.35013	B	.	.	3.045820	0.40854	21.2	0.94887146999416105	0.25725	0.86739	0.46085	D	AEFDBI	0.277095	0.39168	N	-0.0486859151059224	0.39661	2.342519	-0.268091382401617	0.29156	1.631255	0.453639354120062	0.20562	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.18	2.28	0.27583	1.211000	0.31987	.	.	0.436000	0.21017	1.000000	0.71638	0.993000	0.31925	0.406000	0.26916	0.1518:0.7021:0.1462:0.0	10.362	0.43183	590	0.68897	Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1495.33	34	chr12	52795715	.	C	A	1495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.089;DP=832;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.48;SOR=0.997	GT:AD:DP:GQ:PL	0/1:68,58:126:99:1509,0,1905	18	0	1	0
chr12	53669331	53669331	C	G	exonic	ATP5MC2	.	nonsynonymous SNV	ATP5MC2:NM_001002031:exon4:c.G176C:p.S59T,ATP5MC2:NM_001330269:exon4:c.G128C:p.S43T,ATP5MC2:NM_001369755:exon4:c.G128C:p.S43T,ATP5MC2:NM_001369756:exon4:c.G14C:p.S5T,ATP5MC2:NM_001369757:exon4:c.G16C:p.A6P,ATP5MC2:NM_001369758:exon4:c.G122C:p.S41T,ATP5MC2:NM_005176:exon4:c.G128C:p.S43T,ATP5MC2:NM_001369753:exon5:c.G128C:p.S43T,ATP5MC2:NM_001369754:exon5:c.G128C:p.S43T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00692666871578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.20607	T	0.313	0.22761	T	0.381	0.53620	B	0.126	0.46637	B	0.192749	0.16803	N	0.637879	0.969023	0.25774	N	1.705	0.44259	L	1.93	0.23486	T	-0.89	0.24026	N	0.116	0.11340	-1.0683	0.09791	T	0.050	0.21222	T	10	0.05921641	0.07085	T	0.006927	0.18345	T	0.036	0.09122	0.239	0.17065	0.393623145366	0.38971	0.4293973935783408	0.42856	0.258986536561	0.28452	0.289695978165	0.08878	T	0.012	0.10472	T	-0.272836	0.11443	T	-0.629687	0.10438	T	0.0814224987924297	0.10168	T	0.581942	0.21082	T	0.03199282	0.03142	0.048253644	0.07126	0.03199282	0.03141	0.048253644	0.07126	-4.641	0.33920	T	.	.	0.072	0.04080	B	.;.;.;.;.	.;.;.;.;.	1.185611	0.15766	12.09	0.81339823123545429	0.13637	0.45644	0.27584	N	AEFBI	0.546333	0.56048	D	-0.565613425534223	0.19996	1.050903	-0.581027141105531	0.19988	1.075	0.262543893305126	0.18806	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	2.22	0.27116	-0.320000	0.08070	0.009000	0.13411	-0.233000	0.07663	0.000000	0.06391	0.122000	0.22912	0.679000	0.33513	0.2758:0.6498:0.0:0.0744	9.014	0.35319	168	0.93464	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	525.33	35	chr12	53669331	.	C	G	525.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.083;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-1.494;SOR=0.665	GT:AD:DP:GQ:PL	0/1:40,22:62:99:539,0,1269	18	0	1	0
chr12	56164606	56164606	G	A	exonic	SMARCC2	.	nonsynonymous SNV	SMARCC2:NM_003075:exon27:c.C3265T:p.P1089S,SMARCC2:NM_001330288:exon28:c.C3358T:p.P1120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0315628630574	.	.	.	.	.	.	.	.	.	.	.	.	.	rs989944014	9.578e-06	9.577e-06	6.807e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	2.237e-05	0	0	0	0.0002	9.893e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.227	0.25438	T	0.909	0.50183	P	0.901	0.63994	P	0.821401	0.09175	U	0.848157	0.960518	0.81001	D	0	0.06538	N	0.91	0.44856	T	-1.0	0.26422	N	0.403	0.44952	-1.0119	0.26322	T	0.156	0.48738	T	9	0.25472355	0.42855	T	0.031563	0.53618	D	0.168	0.42943	0.3	0.26683	0.323442020237	0.31956	0.14847466651580957	0.14769	0.152227497564	0.17174	0.72133398056	0.70241	T	0.012538	0.29813	T	-0.0925095	0.37663	T	-0.37066	0.36811	T	0.622044618860861	0.37290	D	0.844715	0.52235	T	0.108153	0.25573	0.10307846	0.24724	0.108153	0.25572	0.10307846	0.24723	-7.173	0.55288	T	.	.	0.073	0.06571	B	.;.	.;.	4.090794	0.60926	24.3	0.99404217583984322	0.62934	0.59566	0.30951	D	AEFDBHCI	0.625872	0.60891	D	0.457898949989489	0.64654	4.724702	0.516813062017985	0.69119	5.315358	0.999999997773424	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.471000	0.59915	9.914000	0.82450	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	14.773	0.69315	250	0.90192	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1338.33	33	chr12	56164606	.	G	A	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.183;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.431;SOR=0.696	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1352,0,1644	18	0	1	0
chr12	56602784	56602784	C	T	exonic	BAZ2A	.	nonsynonymous SNV	BAZ2A:NM_001300905:exon19:c.G3353A:p.R1118H,BAZ2A:NM_013449:exon19:c.G3359A:p.R1120H,BAZ2A:NM_001351156:exon21:c.G3263A:p.R1088H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.935	0.323944048103	.	.	8.552e-06	0	9.061e-05	0	0	0	0	0	6.5e-06	1	154602	rs762340479	6.842e-07	6.84e-07	1.361e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	6.569e-06	6.566e-06	1.284e-05	0	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.83	0.82355	M	-3.58	0.95761	D	-4.28	0.76334	D	0.808	0.80375	1.042	0.97945	D	0.920	0.97341	D	10	0.88337314	0.87656	D	0.323944	0.91556	D	0.935	0.98526	0.621	0.75576	0.986072005951	0.98591	0.9064855320272536	0.90621	0.956258092959	0.72833	0.673294663429	0.63307	T	0.568884	0.85692	D	0.483082	0.93808	D	0.539002	0.95407	D	0.999092698097229	0.96158	D	0.999644	0.99868	D	0.7049808	0.78330	0.5528945	0.74145	0.7049808	0.78332	0.5528945	0.74145	-11.335	0.81463	D	.	.	0.616	0.80074	P	.;.;.;.	.;.;.;.	4.907807	0.80724	27.4	0.99957901747785816	0.99986	0.99400	0.95542	D	AEFDGBI	0.894190	0.83290	D	0.860010038782452	0.89671	10.06825	0.83140941649564	0.91884	11.11982	0.999999999945973	0.74766	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	7.843000	0.85133	6.019000	0.52765	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.137	0.89553	73	0.96914	.;.;WHIM2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1241.33	33	chr12	56602784	.	C	T	1241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.485;DP=716;ExcessHet=0;FS=6.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.988;SOR=0.747	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1255,0,1054	18	0	1	0
chr12	57526581	57526581	C	G	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon7:c.C1436G:p.P479R	.	419	1086	15	2	0	19	0.00867184	.	.	.	3208947	MBD6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0002	0.00219649	0.0007	0	0	0	0	3.212e-05	0.0013	0.0078	0.0006209	96	154602	rs377266092	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0077	0.0075	0	0.0003	5.058e-05	0	4.052e-05	0.0038	3.198e-05	0.0008	0.0083	0.0004	0.0004	0.0002	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	2.941e-05	0	0.0110	0.0	0.91255	D	0.0	0.92824	D	0.133	0.27236	B	0.123	0.32463	B	0.022251	0.26671	N	0.259713	0.89591	0.36058	D	0.695	0.17993	N	.	.	.	-0.86	0.23372	N	0.443	0.48134	-0.9578	0.39589	T	0.078	0.31012	T	9	0.0056697726	0.00126	T	.	.	.	0.057	0.16321	.	.	0.043077524339	0.03247	0.21878539586201898	0.21794	0.0478677844679	0.05220	0.647527337074	0.59635	T	0.038321	0.24796	T	-0.366145	0.03794	T	-0.294434	0.45309	T	0.0527051028473688	0.05968	T	0.771423	0.40183	T	0.19242324	0.40911	0.1641021	0.38033	0.19242324	0.40911	0.1641021	0.38032	-6.074	0.46894	T	.	.	0.202	0.42692	B	.;.	.;.	3.370381	0.46573	22.3	0.92364998403707177	0.21769	0.71687	0.35121	D	AEFDGBCI	0.208870	0.33491	N	-0.473000704150568	0.22967	1.230126	-0.335881417086727	0.26950	1.492071	0.999993563667077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.96	3.06	0.34374	1.028000	0.29734	4.639000	0.44147	-0.218000	0.08083	0.903000	0.31499	1.000000	0.68203	0.958000	0.51230	0.1946:0.8054:0.0:0.0	10.506	0.44024	410	0.82135	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	755.33	34	chr12	57526581	.	C	G	755.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.689;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-1.748;SOR=0.719	GT:AD:DP:GQ:PL	0/1:30,33:63:99:769,0,905	18	0	1	0
chr12	57810526	57810526	C	T	exonic	AVIL	.	nonsynonymous SNV	AVIL:NM_006576:exon6:c.G584A:p.R195Q	.	.	.	.	.	.	.	.	.	.	.	2355739	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.0158482188225	0.0002	0.000199681	0.0003	9.619e-05	0.0008	0.0002	0	0.0003	0	0.0001	0.0003234	50	154602	rs201086934	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	2.987e-05	0.0003	0	5.038e-05	0	0	0.0004	0.0002	0.0001	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0003	0.0003	4.814e-05	0	6.536e-05	0	0	0	0	0.0004	0	0.0002	0.038	0.42783	D	0.067	0.44302	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.46	0.56281	T	-3.42	0.67241	D	0.806	0.80180	-0.3597	0.73272	T	0.353	0.71681	T	10	0.65567154	0.69859	D	0.015848	0.36807	T	0.276	0.59253	.	.	0.713400616682	0.71089	0.6807683482577838	0.68015	0.602877694266	0.55285	0.735034048557	0.72243	T	0.31644	0.68798	T	-0.0985668	0.36662	T	-0.0704933	0.65591	T	0.519702732563019	0.33354	D	0.956004	0.83260	D	0.57453835	0.71309	0.387044	0.63582	0.57453835	0.71310	0.387044	0.63582	-11.589	0.82791	D	0.6943544179859731	0.77251	0.154	0.34026	B	.	.	5.300644	0.88993	29.8	0.99957572104483117	0.99986	0.97594	0.75777	D	AEFGBHCI	0.905070	0.85613	D	0.80499739454903	0.86418	8.87902	0.774377853997102	0.87963	9.406991	0.999999999999963	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.19	5.19	0.71428	7.754000	0.84040	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.621	0.87984	198	0.92335	Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	333.33	35	chr12	57810526	.	C	T	333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.818;SOR=1.022	GT:AD:DP:GQ:PL	0/1:20,12:32:99:347,0,538	18	0	1	0
chr12	62525955	62525955	A	G	exonic	MON2	.	nonsynonymous SNV	MON2:NM_001278469:exon11:c.A1253G:p.N418S,MON2:NM_001278470:exon11:c.A1253G:p.N418S,MON2:NM_001278471:exon11:c.A1253G:p.N418S,MON2:NM_015026:exon11:c.A1253G:p.N418S,MON2:NM_001278472:exon12:c.A1037G:p.N346S	.	435	1079	8	0	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00932583130493	0.0011	0.000399361	0.0019	0.0004	0	0	0.0026	0.0024	0.0011	0.0032	0.0018499	286	154602	rs142746051	0.0016	0.0016	0.0015	0.0017	0.0035	0.0015	0.0015	0.0032	0.0031	0.0003	0.0002	0.0002	0	0.0037	0.0009	0.0015	0.0013	0.0035	0.0011	0.0012	0.0010	0.0013	0.0027	0.0010	0.0010	0.0016	0.0015	0.0004	0	0.0001	0	0	0.0016	0.0034	0.0018	0.0009	0.0027	0.716	0.03972	T	1.0	0.01155	T	.	.	.	.	.	.	0.000121	0.49741	D	0.172862	0.85273	0.35250	D	0.46	0.12951	N	0.58	0.54347	T	0.14	0.05405	N	0.144	0.17966	-1.0645	0.10666	T	0.049	0.20947	T	9	0.0057468116	0.00128	T	0.009326	0.24483	T	0.085	0.24743	.	.	0.0675242888579	0.06100	0.10776476197744674	0.10705	.	.	0.454509824514	0.32561	T	0.008712	0.07977	T	-0.615983	0.00116	T	-0.660329	0.08244	T	0.00144395477587966	0.00014	T	0.80172	0.44782	T	0.025496146	0.01495	0.038191233	0.03634	0.025496146	0.01495	0.038191233	0.03634	-2.186	0.03997	T	.	.	0.055	0.00604	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465376	0.18885	13.98	0.18396248832322951	0.00577	0.87593	0.47183	D	AEFGBI	0.196405	0.32338	N	-0.835011067710937	0.12423	0.605398	-0.650981405829786	0.18192	0.9707341	0.911721769815367	0.26374	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.44	1.49	0.21966	1.487000	0.35149	2.554000	0.33279	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.5395:0.3907:0.0697:0.0	7.990	0.29398	758	0.50837	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.02632	490.33	34	chr12	62525955	.	A	G	490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=0.483;SOR=0.684	GT:AD:DP:GQ:PL	0/1:35,21:56:99:504,0,857	18	0	1	0
chr12	70569879	70569879	C	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001206971:exon11:c.G2506T:p.V836L,PTPRB:NM_001206972:exon12:c.G2776T:p.V926L,PTPRB:NM_002837:exon12:c.G2776T:p.V926L,PTPRB:NM_001330204:exon13:c.G3166T:p.V1056L,PTPRB:NM_001109754:exon14:c.G3430T:p.V1144L	.	418	1089	15	0	0	15	0.00683995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	.	0.0002	0.00319489	0.0017	0.0001	8.755e-05	0	0	0.0002	0.0011	0.0113	0.0015136	234	154602	rs201160280	0.0009	0.0009	0.0006	0.0012	0.0114	0.0008	0.0008	0.0108	0.0105	5.977e-05	0	0.0027	0	0	0.0010	0.0002	0.0010	0.0114	0.0005	0.0005	0.0003	0.0007	0.0093	0.0004	0.0004	0.0072	0.0064	0.0001	0	0	0.0049	0.0002	0	0	0.0001	0.0009	0.0093	0.027	0.53900	D	0.006	0.92824	D	0.998	0.77913	D	0.971	0.73562	D	0.000002	0.62929	D	0.058217	1	0.81001	D	2.895	0.83812	M	3.69	0.04114	T	-1.53	0.41428	N	0.733	0.75650	-1.0834	0.06702	T	0.047	0.20235	T	10	0.008271724	0.00188	T	.	.	.	0.234	0.53644	0.426	0.47185	0.442492808307	0.43871	0.5002483743775802	0.49945	0.498353759159	0.48309	0.573220491409	0.49132	T	0.067886	0.44146	T	-0.267928	0.11989	T	-0.148242	0.59399	T	0.111708208111	0.13599	T	0.908809	0.81406	D	0.27998886	0.51048	0.22616558	0.47586	0.27998886	0.51047	0.22616558	0.47585	-8.246	0.64621	D	.	.	0.286	0.59733	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.884855	0.56491	23.7	0.99762952167761254	0.85254	0.98190	0.80386	D	AEFDBI	0.786975	0.71690	D	0.527429464316778	0.68717	5.25585	0.501910177935566	0.68121	5.17629	0.999999985249669	0.74766	0.67177	0.52595	0	0.588015	0.36545	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.3	5.3	0.74745	5.574000	0.67124	3.985000	0.40938	0.589000	0.31548	1.000000	0.71638	0.999000	0.35428	0.158000	0.20581	0.0:1.0:0.0:0.0	19.318	0.94212	729	0.54495	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.006098	0.007576	0.05263	4904.83	33	chr12	70569879	.	C	A	4904.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.212;DP=1150;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=2.73;SOR=0.709	GT:AD:DP:GQ:PL	0/1:100,82:182:99:2188,0,2787	17	0	2	0
chr12	76346354	76346354	T	C	exonic	BBS10	.	nonsynonymous SNV	BBS10:NM_024685:exon2:c.A1631G:p.N544S	Bardet-Biedl syndrome 10, Autosomal recessive	2	1469	47	4	0	55	0.0183762	.	.	.	177273	not_provided|not_specified|Bardet-Biedl_syndrome_10|Bardet-Biedl_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.075	.	0.0067	0.00658946	0.0074	0.0027	0.0046	0	0.0044	0.0077	0.0110	0.0161	0.0073479	1136	154602	rs34737974	0.0081	0.0081	0.0078	0.0083	0.0227	0.0079	0.0079	0.0195	0.0184	0.0023	0.0057	0.0154	5.04e-05	0.0030	0.0227	0.0080	0.0095	0.0151	0.0066	0.0066	0.0067	0.0064	0.0155	0.0062	0.0061	0.0127	0.0117	0.0029	0.0548	0.0077	0.0170	0.0002	0.0037	0.0374	0.0075	0.0080	0.0155	0.129	0.26852	T	0.235	0.24767	T	0.0	0.02946	B	0.001	0.04355	B	0.793385	0.09379	N	0.898598	1	0.08975	N	1.195	0.30194	L	-1.99	0.85320	D	-0.34	0.12661	N	0.055	0.02658	-0.8580	0.51406	T	0.270	0.64141	T	10	0.002981037	0.00048	T	.	.	.	0.075	0.21907	.	.	0.462809833587	0.45907	0.18467108696675422	0.18385	0.0498074525689	0.05466	0.230875551701	0.02033	T	0.120035	0.44199	T	-0.478959	0.00750	T	-0.447794	0.27940	T	0.00381031826751562	0.00040	T	0.40486	0.10377	T	0.038737368	0.05218	0.031991135	0.01867	0.036839508	0.04609	0.03304684	0.02135	-2.628	0.06719	T	0.2661999080791981	0.35880	0.071	0.03964	B	.;.	.;.	0.439928	0.08101	4.829	0.46311100480955264	0.03700	0.10532	0.16013	N	AEFDBCIJ	0.058956	0.11099	N	-1.1809744289882	0.05288	0.2407013	-1.19808015730085	0.05943	0.2845768	0.999911099153308	0.45857	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.95	0.016	0.13429	0.279000	0.18532	1.003000	0.23275	-0.137000	0.12594	0.000000	0.06391	0.822000	0.27135	0.010000	0.09038	0.0:0.2316:0.1416:0.6268	5.305	0.15108	953	0.10115	.;.	.	.	.	.	rs34737974	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	0.025680	0.015152	0.035326	0.035088	0.000000	0.017241	0.024390	0.015152	0.05263	3871.83	34	chr12	76346354	.	T	C	3871.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.373;DP=888;ExcessHet=0.119;FS=1.94;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.27;SOR=0.769	GT:AD:DP:GQ:PL	0/1:70,79:149:99:2168,0,1857	17	0	2	0
chr12	80262009	80262009	G	A	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon19:c.G1903A:p.A635T,OTOGL:NM_173591:exon19:c.G1903A:p.A635T,OTOGL:NM_001378610:exon22:c.G1903A:p.A635T,OTOGL:NM_001368062:exon24:c.G1903A:p.A635T	Deafness, autosomal recessive 84B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2534082	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0349564107278	.	.	1.66e-05	0.0001	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs777164325	1.506e-05	1.573e-05	1.362e-05	1.651e-05	2.991e-05	9.86e-06	8.42e-06	1.214e-05	1.031e-05	2.991e-05	0	0	0	0	0	1.89e-05	0	0	1.314e-05	1.313e-05	2.57e-05	0	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.02	0.49613	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	.	.	.	2.1	0.19990	T	-2.66	0.56945	D	0.643	0.65501	-0.8735	0.50264	T	0.154	0.48464	T	7	0.5693994	0.65233	D	0.034956	0.56025	D	0.209	0.49871	.	.	0.143124449307	0.13826	0.6987352929827518	0.69814	0.115497255454	0.13025	0.594954609871	0.52192	T	.	.	.	-0.132744	0.31053	T	-0.246926	0.50121	T	0.938530564308167	0.60923	D	0.847115	0.52772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.47005	B	.;.;.	.;.;.	3.918338	0.57191	23.8	0.99921118999475089	0.98787	0.97502	0.75165	D	AEFBI	0.764950	0.70158	D	0.476467338447342	0.65720	4.857951	0.498896512691315	0.67916	5.148689	0.999999999439769	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	5.254000	0.65274	8.616000	0.77790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:1.0:0.0	19.553	0.95320	534	0.73357	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	1	0	0	0	0	0	0	0.000518	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.000000	0.02632	1032.33	38	chr12	80262009	.	G	A	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=765;ExcessHet=0;FS=3.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.502;SOR=1.105	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1046,0,689	18	0	1	0
chr12	81134995	81134995	T	G	exonic	ACSS3	.	nonsynonymous SNV	ACSS3:NM_001330242:exon3:c.T633G:p.D211E,ACSS3:NM_024560:exon3:c.T636G:p.D212E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0076759109691	.	.	8.335e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs766353030	1.383e-06	1.368e-06	0	2.781e-06	1.813e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.813e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.15047	T	0.429	0.13752	T	0.978	0.58756	D	0.78	0.57283	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.75	0.19020	N	1.17	0.37910	T	-2.42	0.53096	N	0.341	0.38335	-1.1037	0.03672	T	0.060	0.25127	T	10	0.28749973	0.46333	T	0.007676	0.20378	T	0.267	0.58126	0.296	0.26041	0.134241683229	0.13084	0.4639780860977744	0.46316	0.354553372134	0.37225	0.554288864136	0.46462	T	0.206395	0.63869	T	-0.0961317	0.37065	T	-0.375863	0.36204	T	0.512191236019135	0.33078	D	0.959004	0.84742	D	0.20844096	0.43081	0.16338266	0.37904	0.20844096	0.43081	0.16338266	0.37903	-5.494	0.41812	T	.	.	0.199	0.42259	B	.;.	.;.	2.453521	0.31600	18.79	0.99271787174497939	0.57593	0.88550	0.48530	D	AEFGBI	0.665272	0.63415	D	-0.249053119861539	0.31140	1.743236	-0.200048701356601	0.31536	1.785594	1.42734923547126E-4	0.05573	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.83	0.922	0.18534	0.913000	0.28233	-0.286000	0.10231	-0.278000	0.06506	1.000000	0.71638	0.423000	0.24817	0.897000	0.43391	0.0:0.2666:0.0:0.7334	9.369	0.37406	802	0.44336	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	611.33	38	chr12	81134995	.	T	G	611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=679;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.36;SOR=1.189	GT:AD:DP:GQ:PL	0/1:21,21:42:99:625,0,524	18	0	1	0
chr12	85137906	85137906	T	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon19:c.T4266G:p.I1422M	.	438	1043	38	2	1	43	0.0197368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0074	0.0115815	0.0086	0.0092	0.0039	0.0015	0.0023	0.0077	0.0079	0.0218	0.0081823	1265	154602	rs61740224	0.0081	0.0082	0.0079	0.0084	0.0205	0.0080	0.0080	0.0197	0.0194	0.0120	0.0033	0.0097	0.0009	0.0034	0.0191	0.0075	0.0102	0.0205	0.0078	0.0078	0.0079	0.0078	0.0222	0.0075	0.0073	0.0188	0.0175	0.0106	0	0.0040	0.0049	0.0025	0.0020	0.0034	0.0075	0.0090	0.0222	0.066	0.36113	T	0.004	0.74150	D	0.993	0.65571	D	0.879	0.62418	P	.	.	.	.	0.893066	0.27846	N	0.49	0.13296	N	0.56	0.54540	T	-1.4	0.34596	N	0.201	0.22228	-0.9269	0.44588	T	0.129	0.43807	T	9	0.0058375597	0.00130	T	.	.	.	0.079	0.23065	.	.	0.574056412462	0.57073	0.24462733418689878	0.24376	0.0133742715398	0.01285	0.398845642805	0.24907	T	0.002421	0.01816	T	-0.551364	0.00286	T	-0.548516	0.17468	T	0.0402086683331908	0.03729	T	0.59804	0.22252	T	0.09143171	0.21423	0.15386857	0.36138	0.09143171	0.21423	0.15386857	0.36137	-5.201	0.38952	T	.	.	0.117	0.23814	B	.	.	2.304364	0.29492	18.14	0.93498086442423889	0.23303	0.83457	0.42573	D	AEI	0.204127	0.33059	N	0.21632193234321	0.51991	3.376164	0.224350590449569	0.51203	3.304788	9.71287062153123E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	3.24	0.36257	1.550000	0.35830	0.857000	0.22192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1238:0.0:0.8762	9.607	0.38806	880	0.29376	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	255.33	44	chr12	85137906	.	T	G	255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.382;DP=659;ExcessHet=0;FS=3.27;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-1.129;SOR=1.445	GT:AD:DP:GQ:PL	0/1:20,12:32:99:269,0,514	18	0	1	0
chr12	88049229	88049230	CT	-	exonic	CEP290	.	frameshift deletion	CEP290:NM_025114:exon54:c.7394_7395del:p.E2465Vfs*2	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	494	1017	11	0	0	11	0.00537897	.	.	.	360055	not_specified|Senior-Loken_syndrome_6|Meckel_syndrome,_type_4|Bardet-Biedl_syndrome_14|Joubert_syndrome_5|Leber_congenital_amaurosis_10|CEP290-related_disorder|not_provided|Meckel-Gruber_syndrome|Joubert_syndrome|Nephronophthisis|Retinal_dystrophy	MedGen:CN169374|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MedGen:CN239314|MedGen:C3661900|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,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|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,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0007	0	0	0	0	0.0002	0.0034	0.0044	0.0005886	91	154602	rs569673313	0.0003	0.0003	0.0002	0.0005	0.0043	0.0003	0.0003	0.0039	0.0038	3.024e-05	0.0001	0	0	0	0.0019	6.308e-05	0.0005	0.0043	0.0002	0.0002	6.436e-05	0.0002	0.0031	0.0001	8.73e-05	0.0019	0.0015	2.409e-05	0	6.554e-05	0	0	0	0	8.845e-05	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000521	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	835.29	33	chr12	88049228	.	ACT	A	835.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.65;DP=666;ExcessHet=0;FS=6.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.77;ReadPosRankSum=-0.477;SOR=0.221	GT:AD:DP:GQ:PL	0/1:25,22:47:99:849,0,983	18	0	1	0
chr12	95084577	95084577	C	T	exonic	FGD6	.	nonsynonymous SNV	FGD6:NM_018351:exon20:c.G4177A:p.E1393K	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	.	0.0005	0.0349441	0.0117	0.0011	0.0005	0.1480	0.0012	0.0004	0.0110	0.0044	0.0112806	1744	154602	rs3794255	0.0044	0.0045	0.0044	0.0043	0.1273	0.0043	0.0042	0.1244	0.1232	0.0005	0.0001	0.0012	0.1273	0.0015	0.0009	0.0003	0.0076	0.0047	0.0059	0.0059	0.0051	0.0066	0.1426	0.0055	0.0054	0.1341	0.1307	0.0010	0.0011	0.0009	0.0006	0.1426	0.0014	0	0.0004	0.0057	0.0089	0.07	0.35349	T	0.138	0.33780	T	0.935	0.52277	P	0.53	0.48544	P	0.041480	0.23946	N	0.299343	0.983439	0.40014	D	0.38	0.12130	N	-0.88	0.74689	T	-1.26	0.31778	N	0.116	0.10483	-1.1320	0.01689	T	0.001	0.00467	T	10	0.0016296506	0.00019	T	.	.	.	0.145	0.38592	.	.	.	.	0.287167519373711	0.28629	0.244780140383	0.26991	0.366926252842	0.20390	T	0.12488	0.45021	T	-0.51493	0.00471	T	-0.394306	0.34049	T	0.0146715048281612	0.00304	T	0.89841	0.64469	D	0.2466377	0.47634	0.13500579	0.32335	0.2466377	0.47634	0.13500579	0.32334	-4.647	0.32756	T	.	.	0.145	0.31857	B	.	.	4.504869	0.70489	25.5	0.99719789378410839	0.81984	0.91435	0.53528	D	AEFBI	0.460758	0.51080	N	0.215922477464393	0.51970	3.374362	0.289568436422292	0.54928	3.656667	0.999986988437101	0.51787	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.678554	0.66404	0	.	.	5.12	4.18	0.48473	4.152000	0.57887	5.003000	0.46611	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	0.0:0.8631:0.1369:0.0	17.197	0.86776	945	0.12563	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	rs3794255	Uncertain significance	0	0	0	0	0	1	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	0.000000	0.000000	0.008621	0.009202	0.000000	0.02632	507.33	34	chr12	95084577	.	C	T	507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.982;DP=671;ExcessHet=0;FS=1.088;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.499;SOR=0.917	GT:AD:DP:GQ:PL	0/1:28,22:50:99:521,0,619	18	0	1	0
chr12	104326400	104326400	C	T	exonic	TXNRD1	.	unknown	UNKNOWN	.	4	221	1	0	0	1	0.00225734	.	.	.	738406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0024	0	0.0004	0	0	0	0	0.0145	0.0011837	183	154602	rs542165610	0.0006	0.0006	0.0003	0.0009	0.0097	0.0006	0.0005	0.0091	0.0089	3.099e-05	4.855e-05	0	2.56e-05	0	0.0007	1.543e-05	0.0007	0.0097	0.0004	0.0004	0.0002	0.0006	0.0128	0.0003	0.0003	0.0102	0.0093	0	0	0	0	0	0	0	1.474e-05	0	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.003027	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	166.33	25	chr12	104326400	.	C	T	166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.526;DP=652;ExcessHet=0;FS=1.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=0.312;SOR=0.967	GT:AD:DP:GQ:PL	0/1:18,10:28:99:180,0,458	18	0	1	0
chr12	104757268	104757268	G	A	exonic	CHST11	.	nonsynonymous SNV	CHST11:NM_001173982:exon3:c.G509A:p.R170H,CHST11:NM_018413:exon3:c.G524A:p.R175H	.	429	1091	2	0	0	2	0.000915751	.	.	.	2273949	not_specified|Osteochondrodysplasia,_brachydactyly,_and_overlapping_malformed_digits	MedGen:CN169374|MONDO:MONDO:0032574,MedGen:C4748496,OMIM:618167	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.658	0.0622219137321	.	0.000199681	0.0001	0	8.64e-05	0	0	0.0001	0	0.0004	0.0001358	21	154602	rs527621055	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0010	0.0009	0.0001	2.236e-05	0	0	0	0.0016	0.0001	0.0003	0.0012	9.199e-05	9.187e-05	9e-05	9.407e-05	0.0006	5.528e-05	4.365e-05	0.0002	9.011e-05	2.409e-05	0	6.538e-05	0	0	0	0	0.0001	0	0.0006	0.003	0.72154	D	0.015	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.44	0.92123	M	-0.92	0.75108	T	-3.45	0.67589	D	0.893	0.89242	0.460	0.89975	D	0.680	0.88929	D	10	0.5927463	0.66472	D	0.062222	0.68584	D	0.658	0.87184	.	.	0.960933901439	0.96051	0.7903158257306436	0.78983	1.89546967938	0.92762	0.794410467148	0.81114	T	0.737215	0.92691	D	0.120661	0.66437	D	0.33579	0.89747	D	0.413831157314764	0.29461	T	0.984801	0.94902	D	0.54784304	0.69835	0.52857304	0.72762	0.54784304	0.69836	0.52857304	0.72762	-9.174	0.68810	D	.	.	0.45	0.66992	A	.;.;.	.;.;.	5.906270	0.94018	33	0.99949632519525011	0.99938	0.99139	0.91801	D	AEFBI	0.903347	0.85231	D	1.00974607576539	0.96037	14.231	0.949939026070896	0.97403	16.06913	0.999999999997285	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	10.003000	0.99689	9.926000	0.82543	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.215	0.93762	754	0.51307	.;.;.	.	.	.	.	.	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	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	2800.33	41	chr12	104757268	.	G	A	2800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=836;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.642;SOR=0.693	GT:AD:DP:GQ:PL	0/1:96,96:192:99:2814,0,2543	18	0	1	0
chr12	105217101	105217101	T	C	exonic	APPL2	.	nonsynonymous SNV	APPL2:NM_001251904:exon4:c.A253G:p.T85A,APPL2:NM_001251905:exon4:c.A124G:p.T42A,APPL2:NM_018171:exon4:c.A253G:p.T85A	.	432	1089	1	0	0	1	0.000458926	.	.	.	4042031	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.308	0.0138079164212	.	0.000199681	5.975e-05	0.0001	0	0	0	1.546e-05	0	0.0003	5.17e-05	8	154602	rs528912301	4.593e-05	4.857e-05	2.864e-05	6.341e-05	0.0005	3.669e-05	3.354e-05	0.0003	0.0003	0.0002	0	0	2.523e-05	0	0.0005	9.91e-06	0.0001	0.0005	7.22e-05	7.217e-05	7.707e-05	6.711e-05	0.0002	3.967e-05	3.124e-05	0.0001	9.908e-05	0.0002	0	0	0	0	0	0	0	0	0.0002	0.02	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	3.88	0.03570	T	-2.8	0.82341	D	0.595	0.61680	-1.1544	0.00900	T	0.036	0.15596	T	10	0.33389795	0.50573	T	0.013808	0.33491	T	0.308	0.62947	0.645	0.78224	0.697251103624	0.69463	0.5781132597627752	0.57740	0.517390539339	0.49607	0.614213883877	0.54911	T	0.040601	0.30434	T	-0.0365546	0.46459	T	0.0637491	0.74494	D	0.402835130691528	0.29049	T	0.923508	0.72088	D	0.55925095	0.70469	0.37678504	0.62793	0.55925095	0.70470	0.37678504	0.62792	-3.411	0.21463	T	.	.	0.154	0.39373	B	.;.;.;.;.	.;.;.;.;.	4.116786	0.61501	24.3	0.99781672632496177	0.86867	0.98473	0.83148	D	AEFBI	0.726541	0.67517	D	0.737645656883052	0.82097	7.679516	0.755327849063467	0.86555	8.926682	0.999999999998491	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.203000	0.77377	3.499000	0.38765	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.805	0.78265	667	0.61242	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	815.33	33	chr12	105217101	.	T	C	815.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.256;DP=706;ExcessHet=0;FS=1.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.703;SOR=0.927	GT:AD:DP:GQ:PL	0/1:40,36:76:99:829,0,989	18	0	1	0
chr12	106239646	106239646	G	A	exonic	CKAP4	.	nonsynonymous SNV	CKAP4:NM_006825:exon2:c.C1187T:p.S396L	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	.	0.00638978	0.0031	0	0.0009	0	0	3.008e-05	0	0.0219	0.0027102	419	154602	rs375178726	0.0013	0.0013	0.0008	0.0019	0.0213	0.0013	0.0013	0.0205	0.0201	2.987e-05	8.944e-05	0	5.038e-05	1.872e-05	0.0009	1.799e-05	0.0014	0.0213	0.0008	0.0008	0.0005	0.0012	0.0249	0.0007	0.0007	0.0212	0.0199	7.214e-05	0	0	0	0.0002	9.416e-05	0	1.47e-05	0	0.0249	0.154	0.24277	T	1.0	0.01155	T	0.013	0.16609	B	0.003	0.08700	B	0.692517	0.06155	N	1.181770	1	0.08975	N	1.3	0.32576	L	-1.11	0.77466	T	-2.16	0.48850	N	0.084	0.06059	-0.9200	0.45554	T	0.279	0.65079	T	10	0.0029112399	0.00047	T	.	.	.	0.110	0.31079	0.294	0.25720	0.4147015802	0.41088	.	.	0.232613419967	0.25798	0.273899912834	0.06655	T	0.046218	0.27359	T	-0.482084	0.00719	T	-0.449	0.27806	T	0.00945625406961346	0.00122	T	0.605739	0.22785	T	0.04556925	0.07481	0.06535213	0.13232	0.04556925	0.07481	0.06535213	0.13232	-3.991	0.23669	T	.	.	0.090	0.12750	B	.	.	1.136555	0.15237	11.69	0.96170373962086253	0.28926	0.19939	0.20853	N	AEFDBI	0.174143	0.30126	N	-0.890762061943879	0.11062	0.5318141	-0.912096872344374	0.11808	0.6038442	0.940501322223616	0.27434	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	0.892	0.18364	0.554000	0.23113	3.673000	0.39443	0.676000	0.76740	0.000000	0.06391	0.649000	0.25954	0.008000	0.08271	0.3125:0.0:0.547:0.1405	4.660	0.12023	907	0.22727	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1350.33	34	chr12	106239646	.	G	A	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=775;ExcessHet=0;FS=4.377;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.982;SOR=1.107	GT:AD:DP:GQ:PL	0/1:77,52:129:99:1364,0,1978	18	0	1	0
chr12	108788442	108788442	G	C	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_018984:exon15:c.C2696G:p.P899R	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00729197730204	0.0002	0.00119808	0.0013	0.0001	0.0005	0	0	0.0010	0.0013	0.0066	0.001119	173	154602	rs146273433	0.0007	0.0008	0.0005	0.0009	0.0054	0.0007	0.0007	0.0050	0.0048	3.121e-05	0.0013	0.0081	0	1.957e-05	0.0036	0.0002	0.0014	0.0054	0.0009	0.0009	0.0008	0.0011	0.0050	0.0008	0.0008	0.0034	0.0029	7.218e-05	0	0.0031	0.0098	0	0	0.0102	0.0004	0.0019	0.0050	0.042	0.41637	D	0.431	0.13673	T	0.201	0.29693	B	0.063	0.27082	B	0.526348	0.11686	N	0.802027	1	0.08975	N	1.61	0.41143	L	2.79	0.11189	T	-1.02	0.26843	N	0.124	0.11626	-1.0071	0.27819	T	0.027	0.11707	T	10	0.0038118064	0.00072	T	0.007292	0.19334	T	0.031	0.07369	.	.	0.19168177325	0.18762	0.31280380106991573	0.31193	0.281092337101	0.30582	0.333899259567	0.15521	T	0.044405	0.26805	T	-0.561553	0.00248	T	-0.577766	0.14745	T	0.0115682726316698	0.00175	T	0.744526	0.36463	T	0.035950575	0.04328	0.042760726	0.05165	0.035950575	0.04328	0.042760726	0.05165	-3.494	0.16348	T	.	.	0.089	0.12276	B	.	.	2.181558	0.27809	17.59	0.94268694792386953	0.24555	0.37481	0.25772	N	AEFDBCI	0.157702	0.28325	N	-0.780241233445969	0.13826	0.6839557	-0.871908698914118	0.12761	0.6583303	0.995597463849118	0.34213	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.25	1.0	0.18999	1.379000	0.33946	2.357000	0.32349	0.676000	0.76740	0.002000	0.15269	0.043000	0.21642	0.636000	0.32315	0.1389:0.2472:0.6139:0.0	7.893	0.28851	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.018293	0.007576	0.02632	1334.33	33	chr12	108788442	.	G	C	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.925;DP=978;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-1.114;SOR=0.681	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1348,0,1685	18	0	1	0
chr12	119130737	119130737	G	A	exonic	SRRM4	.	nonsynonymous SNV	SRRM4:NM_194286:exon8:c.G674A:p.C225Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0108632319313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.84e-07	0	1.377e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	1.0	0.01155	T	0.005	0.12996	B	0.008	0.13708	B	0.074214	0.21298	N	0.480369	0.832492	0.28741	N	2.015	0.55033	M	1.95	0.22474	T	-2.07	0.47344	N	0.234	0.26354	-1.0021	0.29313	T	0.034	0.14421	T	10	0.11337343	0.21296	T	0.010863	0.27874	T	0.084	0.24469	0.3	0.26683	0.0666544352282	0.05500	0.29545233895925077	0.29458	0.485881072082	0.47466	0.494371652603	0.38046	T	0.012125	0.10712	T	-0.172619	0.24839	T	-0.485731	0.23840	T	0.574972860337812	0.35425	D	0.680032	0.28847	T	0.14605236	0.33451	0.19333532	0.42897	0.14605236	0.33451	0.19333532	0.42896	-3.812	0.20984	T	.	.	0.099	0.16582	B	.	.	3.478777	0.48568	22.6	0.97593347139642728	0.34803	0.67196	0.33345	D	AEFBI	0.124198	0.24014	N	-0.300301252383252	0.29137	1.613168	-0.113563581370392	0.34842	2.008841	0.00147134129962618	0.08567	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	4.17	0.48303	2.129000	0.41677	6.614000	0.56098	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1793:0.0:0.8207:0.0	8.194	0.30546	950	0.11238	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1032.33	38	chr12	119130737	.	G	A	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=695;ExcessHet=0;FS=4.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=-0.958;SOR=0.89	GT:AD:DP:GQ:PL	0/1:30,38:68:99:1046,0,710	18	0	1	0
chr12	130456598	130456598	C	T	exonic	RIMBP2	.	nonsynonymous SNV	RIMBP2:NM_015347:exon5:c.G205A:p.D69N,RIMBP2:NM_001351227:exon6:c.G256A:p.D86N,RIMBP2:NM_001351226:exon7:c.G256A:p.D86N,RIMBP2:NM_001351228:exon7:c.G256A:p.D86N,RIMBP2:NM_001351229:exon7:c.G256A:p.D86N,RIMBP2:NM_001351230:exon7:c.G256A:p.D86N,RIMBP2:NM_001351231:exon7:c.G256A:p.D86N,RIMBP2:NM_001351232:exon7:c.G256A:p.D86N	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0123198049309	0.0007	0.000599042	0.0009	9.724e-05	0.0032	0.0001	0	0.0009	0.0034	0.0004	0.0008667	134	154602	rs142828341	0.0007	0.0007	0.0007	0.0008	0.0113	0.0007	0.0007	0.0091	0.0083	0.0004	0.0022	0.0018	0	1.879e-05	0.0113	0.0006	0.0016	0.0003	0.0007	0.0007	0.0007	0.0007	0.0015	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0015	0.0020	0	9.416e-05	0.0102	0.0008	0.0024	0.0002	0.003	0.68238	D	0.015	0.61642	D	0.877	0.48223	P	0.326	0.41929	B	0.000034	0.55875	D	0.117593	0.999906	0.81001	D	2.56	0.74772	M	1.53	0.30401	T	-3.78	0.71519	D	0.398	0.43899	-0.8116	0.54454	T	0.112	0.40099	T	10	0.01864928	0.00408	T	0.01232	0.30787	T	0.162	0.41843	.	.	0.577304025972	0.57399	0.3961254726322311	0.39527	0.482082507324	0.47176	0.441673249006	0.30806	T	0.257908	0.62900	T	-0.521214	0.00433	T	-0.527631	0.19524	T	0.0626268939677453	0.07576	T	0.849815	0.54540	T	0.4144924	0.61723	0.22937171	0.48007	0.4144924	0.61724	0.22937171	0.48006	-8.993	0.67652	D	.	.	0.100	0.20313	B	.;.;.;.	.;.;.;.	2.948412	0.39226	20.9	0.99881606308034776	0.95733	0.97156	0.73019	D	AEFDBI	0.814051	0.73637	D	0.46768464857352	0.65213	4.794367	0.461334016345773	0.65450	4.82511	0.999998537992963	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.64	4.64	0.57399	4.695000	0.61453	2.025000	0.30227	0.595000	0.32841	1.000000	0.71638	0.967000	0.29559	0.382000	0.26379	0.0:1.0:0.0:0.0	17.532	0.87714	992	0.01359	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012109	0.010204	0.023098	0.008772	0.000000	0.025862	0.000000	0.000000	0.02632	1379.33	35	chr12	130456598	.	C	T	1379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.767;DP=760;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.07;SOR=0.895	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1393,0,1317	18	0	1	0
chr12	132816731	132816731	G	A	exonic	GOLGA3	.	nonsynonymous SNV	GOLGA3:NM_001172557:exon3:c.C215T:p.T72M,GOLGA3:NM_005895:exon3:c.C215T:p.T72M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00810703187002	.	.	5.79e-05	0	8.667e-05	0	0	1.506e-05	0	0.0003	4.53e-05	7	154602	rs763136916	4.242e-05	4.241e-05	3.403e-05	5.088e-05	0.0004	3.377e-05	3.065e-05	0.0003	0.0002	5.974e-05	4.473e-05	3.827e-05	2.519e-05	1.873e-05	0	1.799e-05	3.312e-05	0.0004	4.6e-05	4.596e-05	3.854e-05	5.381e-05	0.0006	2.109e-05	1.527e-05	0.0002	8.981e-05	4.828e-05	0	6.543e-05	0	0	0	0	1.47e-05	0	0.0006	0.248	0.17296	T	0.27	0.23638	T	0.087	0.27759	B	0.006	0.12133	B	0.351656	0.04249	N	1.397070	1	0.08975	N	1.59	0.40313	L	1.92	0.31470	T	-0.2	0.14978	N	0.132	0.14196	-1.0231	0.22704	T	0.036	0.15553	T	10	0.0292961	0.01057	T	0.008107	0.21495	T	0.007	0.00512	0.247	0.18293	0.260580752073	0.25663	0.09757750152286984	0.09688	0.115538250481	0.13036	0.222179919481	0.01439	T	0.094863	0.39503	T	-0.514335	0.00474	T	-0.666064	0.07862	T	0.0217044282064772	0.00876	T	0.574243	0.20591	T	0.009691387	0.00003	0.020148171	0.00121	0.009691387	0.00003	0.020148171	0.00121	-5.612	0.42901	T	.	.	0.074	0.05103	B	.;.;.;.	.;.;.;.	0.037452	0.04546	1.236	0.83315891285241872	0.14659	0.12138	0.17083	N	AEFBI	0.055594	0.10208	N	-1.52068948875786	0.01714	0.0750096	-1.49159793586694	0.02412	0.1109212	0.0865332375366682	0.16011	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.54	-0.358	0.11950	-0.325000	0.08019	-0.186000	0.11084	-0.104000	0.15758	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.435:0.0:0.4632:0.1018	8.132	0.30195	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1373.33	34	chr12	132816731	.	G	A	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.986;DP=754;ExcessHet=0;FS=1.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=2.26;SOR=0.919	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1387,0,1318	18	0	1	0
chr12	133121791	133121791	A	G	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.T128C:p.M43T	.	431	1057	33	1	0	35	0.0162866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	.	0.00399361	0.0171	0.0040	0.0051	0	0.0284	0.0135	0.0052	0.0193	0.0028395	439	154602	rs11147241	0.0071	0.0068	0.0068	0.0075	0.0159	0.0070	0.0069	0.0152	0.0149	0.0009	0.0037	0.0231	5.597e-05	0.0236	0.0132	0.0060	0.0074	0.0159	0.0067	0.0067	0.0057	0.0078	0.0141	0.0064	0.0062	0.0114	0.0104	0.0006	0	0.0048	0.0213	0.0002	0.0253	0.0136	0.0073	0.0066	0.0141	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.735	0.44892	L	4.67	0.01735	T	-1.27	0.31981	N	0.303	0.34228	-1.0652	0.10502	T	0.010	0.03537	T	5	0.0045554936	0.00094	T	.	.	.	0.108	0.30607	.	.	0.043077524339	0.03247	0.10339948176292266	0.10269	0.0205511460022	0.02023	0.261319935322	0.05049	T	0.006881	0.06306	T	-0.5581	0.00261	T	-0.560823	0.16299	T	0.0170166397133512	0.00450	T	0.910809	0.68393	D	0.52541	0.68569	0.42895132	0.66593	0.52541	0.68570	0.42895132	0.66593	-5.486	0.41737	T	.	.	0.617	0.69559	P	.	.	2.194521	0.27984	17.65	0.97262635867247871	0.33098	0.16088	0.19225	N	AEFBI	0.066787	0.13095	N	-0.126146370739987	0.36257	2.093278	-0.190241992970159	0.31895	1.809316	0.0900386912113356	0.16099	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.05	4.05	0.46415	1.244000	0.32381	4.555000	0.43818	0.756000	0.94297	0.001000	0.13787	0.198000	0.23548	0.868000	0.41282	1.0:0.0:0.0:0.0	11.028	0.46973	856	0.34373	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4091.79	46	chr12	133121791	.	A	G	4091.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.67;DP=1027;ExcessHet=0.3672;FS=1.238;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.254;SOR=0.622	GT:AD:DP:GQ:PL	0/1:59,40:99:99:905,0,1547	16	0	3	0
chr13	23336348	23336348	C	T	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.G7087A:p.A2363T,SACS:NM_014363:exon10:c.G7528A:p.A2510T	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	YES	254834	not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia|SACS-related_disorder|Charlevoix-Saguenay_spastic_ataxia|not_provided	MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|.|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.567	0.111030976423	0.0018	0.000199681	0.0012	0.0006	0.0005	0	0	0.0019	0	0.0007	0.0013842	214	154602	rs111920492	0.0021	0.0021	0.0021	0.0020	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0007	0.0010	0	0.0001	0.0003	0.0025	0.0012	0.0008	0.0012	0.0012	0.0013	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0004	0.0143	0.0009	0.0003	0	9.42e-05	0	0.0021	0.0014	0.0004	0.022	0.48642	D	0.0	0.92824	D	0.985	0.61118	D	0.728	0.55195	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.355	0.33814	L	-3.31	0.93835	D	-0.36	0.13035	N	0.787	0.79503	0.537	0.91062	D	0.785	0.92701	D	10	0.04148993	0.02809	T	0.111031	0.78864	D	0.567	0.82346	.	.	0.930296074874	0.92958	0.7034014014451269	0.70281	.	.	0.666264653206	0.62305	T	0.233834	0.60072	T	-0.0224704	0.48500	T	0.194108	0.82803	D	0.0365577600896358	0.03077	T	0.959604	0.84807	D	0.1766302	0.38586	0.19416097	0.43024	0.1766302	0.38586	0.19416097	0.43023	-3.018	0.10376	T	0.3712496655883729	0.46673	0.551	0.66816	A	.;.	.;.	4.404765	0.68085	25.2	0.99896648373883778	0.96971	0.95234	0.63935	D	AEFBCI	0.822498	0.74281	D	0.57711789661237	0.71746	5.698299	0.636350729095018	0.77599	6.710254	0.999999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.72	5.72	0.89380	7.565000	0.81337	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.877	0.96873	987	0.02648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2754.33	82	chr13	23336348	.	C	T	2754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.32;DP=1555;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-1.01;SOR=0.689	GT:AD:DP:GQ:PL	0/1:100,106:206:99:2768,0,2621	18	0	1	0
chr13	24710559	24710559	C	T	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon20:c.C2881T:p.R961W,ATP12A:NM_001676:exon20:c.C2863T:p.R955W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.801	0.21981609936	0.0002	0.000798722	0.0004	0	0	0	0	1.498e-05	0	0.0028	0.0003363	52	154602	rs140886846	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	2.519e-05	0	0	1.978e-05	0.0004	0.0028	7.878e-05	7.873e-05	5.14e-05	0.0001	0.0025	4.493e-05	3.509e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.825	0.59331	P	0.000001	0.84330	D	0.000000	0.999997	0.58761	D	3.615	0.93875	H	-2.49	0.89145	D	-6.09	0.89947	D	0.947	0.95491	0.803	0.94450	D	0.836	0.94503	D	10	0.13576001	0.25833	T	0.219816	0.87726	D	0.801	0.93504	.	.	0.982419504982	0.98223	0.7812507531034472	0.78076	0.843759495885	0.68187	0.790790438652	0.80564	T	0.914023	0.98404	D	0.0932108	0.63548	D	0.356811	0.90581	D	0.367330778519394	0.27694	T	0.994501	0.98160	D	0.83023304	0.85918	0.8177751	0.89396	0.83023304	0.85920	0.8177751	0.89397	-11.612	0.82910	D	.	.	0.943	0.86205	P	.;.	.;.	4.046010	0.59940	24.2	0.99909289993697381	0.97949	0.86841	0.46211	D	AEFBI	0.672818	0.63909	D	0.504949667448783	0.67383	5.074185	0.412917733805581	0.62369	4.451144	0.00421936335094146	0.10461	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.49	3.7	0.41607	1.240000	0.32334	-0.265000	0.10395	0.599000	0.40250	0.941000	0.32681	0.000000	0.08366	0.985000	0.61073	0.4928:0.5072:0.0:0.0	11.715	0.50911	975	0.05339	.;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1121.33	34	chr13	24710559	.	C	T	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=690;ExcessHet=0;FS=1.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=1.21;SOR=0.461	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1135,0,1056	18	0	1	0
chr13	25469045	25469045	G	T	exonic	ATP8A2	.	nonsynonymous SNV	ATP8A2:NM_001313741:exon2:c.G25T:p.D9Y,ATP8A2:NM_016529:exon2:c.G145T:p.D49Y	.	.	.	.	.	.	.	.	.	.	YES	215464	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.208	0.532334350513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs864309608	3.284e-05	3.283e-05	4.492e-05	2.063e-05	0.0057	2.543e-05	2.249e-05	0.0042	0.0037	0	0	0	0	0	0.0057	1.079e-05	4.969e-05	0	1.97e-05	1.968e-05	3.855e-05	0	1.471e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0.0005	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000004	0.62929	D	0.058843	0.999997	0.58761	D	.	.	.	0.26	0.66294	T	-3.69	0.70432	D	0.597	0.61596	-0.6348	0.63367	T	0.302	0.67279	T	10	0.66796076	0.70540	D	0.532334	0.95607	D	0.471	0.76487	0.418	0.45873	0.721108871625	0.71864	0.6747912373145017	0.67417	1.14845940085	0.79135	0.665206670761	0.62154	T	0.077567	0.35685	T	0.197387	0.73648	D	0.0457569	0.73304	D	0.99306982755661	0.83726	D	0.819518	0.47762	T	0.77322954	0.82241	0.6640125	0.80304	0.77322954	0.82243	0.6640125	0.80305	-5.542	0.42259	T	.	.	0.157	0.34689	B	.;.	.;.	5.181891	0.86881	29.1	0.99458483425960176	0.65684	0.90353	0.51461	D	AEFDBHCI	0.846518	0.76339	D	0.297750018053299	0.56033	3.76768	0.335601339413242	0.57646	3.930981	0.999999999999998	0.74766	0.685219	0.55550	0	0.596491	0.49125	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	4.16	4.16	0.48138	7.189000	0.77281	8.322000	0.76964	0.642000	0.52262	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.178	0.72611	427	0.81056	.;.	.	.	.	.	.	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	0.004032	0.005051	0.001359	0.014620	0.000000	0.008621	0.000000	0.000000	0.02632	1604.33	33	chr13	25469045	.	G	T	1604.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.053;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.832;SOR=0.664	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1618,0,1695	18	0	1	0
chr13	45015481	45015481	C	G	exonic	GPALPP1	.	nonsynonymous SNV	GPALPP1:NM_001316951:exon6:c.C590G:p.P197R,GPALPP1:NM_001316952:exon6:c.C221G:p.P74R,GPALPP1:NM_018559:exon6:c.C590G:p.P197R	.	430	1072	19	1	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.00865668430063	0.0056	0.00199681	0.0040	0.0009	0.0029	0	0.0008	0.0051	0.0033	0.0061	0.0042237	653	154602	rs151309735	0.0051	0.0051	0.0049	0.0052	0.0068	0.0050	0.0049	0.0056	0.0056	0.0005	0.0025	0.0040	0	0.0006	0.0068	0.0057	0.0038	0.0060	0.0035	0.0035	0.0037	0.0033	0.0061	0.0033	0.0032	0.0056	0.0054	0.0009	0	0.0017	0.0046	0	0.0008	0.0034	0.0061	0.0028	0.0058	0.131	0.59928	T	0.076	0.56640	T	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.095253	1	0.81001	D	2.815	0.81989	M	.	.	.	-4.21	0.82575	D	0.645	0.66358	-0.2055	0.77528	T	0.374	0.73265	T	9	0.012657493	0.00271	T	0.008657	0.22878	T	0.240	0.54500	.	.	0.684793281163	0.68210	0.0973502243700874	0.09666	0.495361560932	0.48073	.	.	.	0.405594	0.76173	T	-0.211822	0.19122	T	-0.0705044	0.65590	T	0.0186101818288351	0.00575	T	0.931307	0.74459	D	0.528335	0.68736	0.405067	0.64917	0.528335	0.68737	0.405067	0.64917	-9.776	0.79438	D	.	.	0.228	0.46049	B	.;.;.	.;.;.	4.629322	0.73586	26.0	0.99834511355337385	0.91542	0.88192	0.48011	D	AEFDBHCIJ	0.839588	0.75698	D	0.831741085997873	0.88047	9.433414	0.812093758802564	0.90622	10.49155	1.0	0.98316	0.744818	0.98587	0	0.732433	0.95613	0	0.724815	0.87919	0	0.662026	0.63922	0	.	.	5.51	5.51	0.81769	7.282000	0.77993	5.942000	0.51497	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	18.782	0.91904	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003049	0.011364	0.02632	2065.33	35	chr13	45015481	.	C	G	2065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.469;DP=831;ExcessHet=0;FS=1.817;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.245;SOR=0.862	GT:AD:DP:GQ:PL	0/1:102,84:186:99:2079,0,2704	18	0	1	0
chr13	46553653	46553653	T	G	exonic	LRCH1	.	nonsynonymous SNV	LRCH1:NM_001164211:exon1:c.T257G:p.F86C,LRCH1:NM_001164213:exon1:c.T257G:p.F86C,LRCH1:NM_015116:exon1:c.T257G:p.F86C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.424751309544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0017	0.0011	0.0011	0.0062	0.0011	0.0011	0.0055	0.0053	0.0018	0.0007	0.0015	0.0062	0.0076	0.0011	0.0007	0.0022	0.0001	6.625e-06	4.616e-05	0	1.356e-05	.	0	0	.	.	0	0	0	0	0	9.752e-05	0	0	0	0	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.005710	0.32572	N	0.186994	1	0.81001	D	0.975	0.24501	L	2.18	0.18875	T	-6.06	0.90254	D	0.747	0.82862	-0.9467	0.41532	T	0.126	0.43257	T	10	0.7817159	0.77908	D	0.424751	0.93864	D	0.414	0.72479	0.51	0.60693	0.396908593892	0.39302	0.7944356372558592	0.79396	1.01195624948	0.74809	0.954575836658	0.99837	D	0.165915	0.51195	T	0.164239	0.70593	D	-0.00185888	0.70215	D	0.997773230075836	0.92389	D	0.988401	0.96008	D	0.6864665	0.77319	0.5428026	0.73575	0.6864665	0.77320	0.5428026	0.73575	-11.464	0.82225	D	.	.	0.994	0.95290	P	.;.;.	.;.;.	5.286680	0.88766	29.7	0.99408479785307902	0.63169	0.93335	0.57942	D	AEFDBCI	0.842071	0.75921	D	0.672100961632889	0.77806	6.74595	0.620229597275742	0.76409	6.485958	0.999999999998911	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	4.51	4.51	0.54589	7.323000	0.78378	7.551000	0.60274	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	13.041	0.58310	454	0.79125	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	39.33	35	chr13	46553653	.	T	G	39.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.973;DP=697;ExcessHet=0;FS=13.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.38;SOR=3.72	GT:AD:DP:GQ:PL	0/1:39,10:49:53:53,0,822	18	0	1	0
chr13	48706857	48706857	G	A	exonic	CYSLTR2	.	nonsynonymous SNV	CYSLTR2:NM_001308471:exon2:c.G40A:p.V14I,CYSLTR2:NM_001308470:exon3:c.G40A:p.V14I,CYSLTR2:NM_001308468:exon4:c.G40A:p.V14I,CYSLTR2:NM_001308469:exon4:c.G40A:p.V14I,CYSLTR2:NM_001308476:exon5:c.G40A:p.V14I,CYSLTR2:NM_020377:exon5:c.G40A:p.V14I,CYSLTR2:NM_001308465:exon6:c.G40A:p.V14I,CYSLTR2:NM_001308467:exon6:c.G40A:p.V14I	.	.	.	.	.	.	.	.	.	.	.	2733093	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.098	0.0104299160182	.	.	4.127e-05	0	0	0.0001	0	6.001e-05	0	0	3.88e-05	6	154602	rs200402832	5.678e-05	5.678e-05	5.854e-05	5.501e-05	6.026e-05	4.677e-05	4.302e-05	4.813e-05	4.424e-05	0	2.237e-05	0.0003	0	0	0	6.026e-05	6.624e-05	4.638e-05	3.944e-05	3.94e-05	3.855e-05	4.037e-05	0.0004	1.716e-05	1.13e-05	6.816e-05	2.853e-05	0	0	0	0	0.0004	0	0	5.88e-05	0	0	0.797	0.03142	T	0.613	0.07617	T	0.0	0.02946	B	0.0	0.01387	B	0.004157	0.01007	N	3.848550	1	0.08975	N	0	0.06538	N	-0.45	0.69896	T	-0.01	0.07155	N	0.017	0.00308	-1.0180	0.24366	T	0.087	0.33690	T	10	0.025885582	0.03944	T	0.01043	0.26958	T	0.098	0.28162	0.157	0.06070	0.33440975612	0.33058	0.03960278222268517	0.03906	0.0966914335435	0.10917	0.217327803373	0.01161	T	0.023889	0.18153	T	-0.420976	0.01686	T	-0.656576	0.08500	T	0.0489316321909428	0.05311	T	0.212979	0.02609	T	0.024586847	0.01305	0.019741124	0.00102	0.024586847	0.01305	0.019741124	0.00102	-3.51	0.16572	T	.	.	0.075	0.05623	B	.;.;.;.;.	.;.;.;.;.	-2.416155	0.00039	0.001	0.58919049974659454	0.06103	0.00492	0.02329	N	AEFI	0.020753	0.00852	N	-2.10959805317003	0.00122	0.005219632	-2.17660982253239	0.00126	0.005550727	0.999999999800726	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.08	-12.2	0.00004	-1.403000	0.02603	-3.219000	0.02960	-2.564000	0.00244	0.000000	0.06391	0.000000	0.08366	0.097000	0.18139	0.2533:0.1633:0.3424:0.241	1.607	0.02525	705	0.57330	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1226.33	33	chr13	48706857	.	G	A	1226.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.99;DP=722;ExcessHet=0;FS=2.536;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.488;SOR=0.467	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1240,0,1300	18	0	1	0
chr13	49485640	49485640	C	G	exonic	SETDB2;SETDB2-PHF11	.	nonsynonymous SNV	SETDB2:NM_001160308:exon11:c.C1493G:p.S498C,SETDB2:NM_001320699:exon11:c.C1493G:p.S498C,SETDB2-PHF11:NM_001320727:exon11:c.C1493G:p.S498C,SETDB2:NM_031915:exon12:c.C1529G:p.S510C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0209774847906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.229	0.31833	T	0.007	0.14184	B	0.011	0.15521	B	0.054555	0.22716	N	0.466770	0.99968	0.21260	N	1.61	0.41143	L	1.09	0.39223	T	-1.66	0.39692	N	0.144	0.14763	-0.4844	0.69209	T	0.463	0.79229	T	10	0.13078037	0.24890	T	0.020977	0.43675	T	0.133	0.36157	0.455	0.51938	0.441740949975	0.43797	0.26286976845630533	0.26199	0.263391581007	0.28895	0.349639594555	0.17869	T	0.034644	0.23401	T	-0.175251	0.24445	T	-0.489513	0.23443	T	0.279888302087784	0.24167	T	0.614539	0.23442	T	0.065997645	0.14159	0.053382266	0.08982	0.065997645	0.14158	0.053382266	0.08982	-4.379	0.29367	T	.	.	0.087	0.17103	B	.;.;.;.	.;.;.;.	2.782052	0.36545	20.3	0.79928074874745014	0.12965	0.53734	0.29444	D	AEFBCI	0.077768	0.15674	N	-0.298437769804934	0.29209	1.617773	-0.177092279534759	0.32381	1.841664	0.999366627123561	0.39301	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.88	4.02	0.45968	1.977000	0.40211	2.610000	0.33572	0.599000	0.40250	0.588000	0.27650	1.000000	0.68203	0.978000	0.57271	0.0:0.797:0.203:0.0	10.675	0.44976	830	0.39242	SET domain|SET domain|SET domain;SET domain;.;SET domain|SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1255.33	33	chr13	49485640	.	C	G	1255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.159;DP=707;ExcessHet=0;FS=0.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=0.803;SOR=0.558	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1269,0,1117	18	0	1	0
chr13	52377916	52377916	G	T	exonic	THSD1	.	nonsynonymous SNV	THSD1:NM_199263:exon4:c.C1895A:p.T632K,THSD1:NM_018676:exon5:c.C2054A:p.T685K	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	0.00599042	0.0039	9.739e-05	0	0.0001	0	7.53e-05	0.0033	0.0283	0.0033699	521	154602	rs543365030	0.0017	0.0017	0.0009	0.0024	0.0263	0.0016	0.0016	0.0254	0.0251	5.974e-05	2.236e-05	0	0	0	0.0009	5.126e-05	0.0015	0.0263	0.0009	0.0009	0.0004	0.0013	0.0263	0.0007	0.0007	0.0226	0.0212	0	0	6.539e-05	0	0.0002	0	0	2.94e-05	0	0.0263	0.011	0.58626	D	0.121	0.38742	T	0.493	0.51088	P	0.224	0.45556	B	0.325349	0.14203	N	0.703788	1	0.08975	N	2.38	0.68558	M	2.18	0.18875	T	-3.3	0.65858	D	0.288	0.32591	-1.0382	0.17863	T	0.071	0.29066	T	10	0.0026299953	0.00040	T	.	.	.	0.077	0.22490	0.185	0.09388	0.0611884634855	0.05136	0.4238316922896501	0.42300	0.453056790591	0.45006	0.292236566544	0.09249	T	0.036144	0.23993	T	-0.565047	0.00237	T	-0.563477	0.16052	T	0.0872365707993417	0.10886	T	0.789521	0.42989	T	0.057529505	0.11460	0.064823106	0.13050	0.05780061	0.11549	0.06185092	0.12010	-4.87	0.36546	T	0.2657739071670723	0.35827	0.132	0.40424	B	.;.;.	.;.;.	1.024865	0.14044	10.61	0.78021706370412136	0.12122	0.15364	0.18875	N	AEFDBI	0.116824	0.22913	N	-0.724640943922878	0.15331	0.7716644	-0.895889860652703	0.12191	0.6256602	0.0347298754959997	0.14167	0.706548	0.73137	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.02	-1.13	0.09274	1.301000	0.33052	3.678000	0.39458	-0.717000	0.03845	0.015000	0.19116	0.513000	0.25267	0.002000	0.04165	0.1175:0.1143:0.7682:0.0	7.418	0.26227	783	0.47268	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2035.33	33	chr13	52377916	.	G	T	2035.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.63;DP=812;ExcessHet=0;FS=1.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=0.867;SOR=0.755	GT:AD:DP:GQ:PL	0/1:60,70:130:99:2049,0,1517	18	0	1	0
chr13	61413630	61413630	C	T	exonic	PCDH20	.	nonsynonymous SNV	PCDH20:NM_022843:exon2:c.G469A:p.G157S	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0114299058439	7.7e-05	0.00159744	0.0004	0	8.697e-05	0	0	3.013e-05	0	0.0030	0.0003946	61	154602	rs376715154	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0022	0.0021	2.987e-05	0.0002	3.826e-05	0	0	0.0019	7.104e-05	0.0002	0.0024	0.0002	0.0002	0.0001	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	2.406e-05	0	0.0007	0	0	0	0	2.94e-05	0	0.0033	0.17	0.22833	T	0.542	0.09690	T	.	.	.	.	.	.	0.000545	0.43413	D	0.100126	0.883106	0.28014	N	0.37	0.12060	N	0.63	0.53088	T	-0.14	0.09135	N	0.107	0.10911	-1.0498	0.14453	T	0.063	0.26101	T	10	0.0037433505	0.00070	T	0.01143	0.29047	T	0.067	0.19503	.	.	0.168254554758	0.16434	0.35697522037304463	0.35611	0.212277476401	0.23727	0.375601530075	0.21632	T	0.011012	0.09882	T	-0.496145	0.00601	T	-0.489446	0.23450	T	0.049635823816061	0.05435	T	0.707729	0.31835	T	0.040560924	0.05814	0.14881186	0.35161	0.040560924	0.05813	0.14881186	0.35161	-3.709	0.19451	T	.	.	0.070	0.03625	B	.;.	.;.	2.097005	0.26679	17.20	0.98755823923095454	0.45739	0.26337	0.22964	N	AEFDBI	0.236826	0.35921	N	-0.797721088114463	0.13369	0.6581196	-0.638656170590274	0.18504	0.9887562	0.998577031535849	0.37226	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	5.65	4.81	0.61401	1.254000	0.32500	3.347000	0.37754	-0.178000	0.10482	0.002000	0.15269	0.945000	0.28875	0.435000	0.27561	0.0:0.8512:0.0:0.1488	10.969	0.46640	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1973.33	69	chr13	61413630	.	C	T	1973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.999;DP=1389;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.531;SOR=0.54	GT:AD:DP:GQ:PL	0/1:69,67:136:99:1987,0,2061	18	0	1	0
chr13	75840433	75840433	G	C	exonic	LMO7	.	nonsynonymous SNV	LMO7:NM_001366634:exon19:c.G2539C:p.D847H,LMO7:NM_001366636:exon19:c.G2539C:p.D847H,LMO7:NM_015842:exon19:c.G2821C:p.D941H,LMO7:NM_001330583:exon20:c.G2821C:p.D941H,LMO7:NM_001366632:exon20:c.G2821C:p.D941H,LMO7:NM_001366633:exon20:c.G3394C:p.D1132H,LMO7:NM_005358:exon21:c.G2674C:p.D892H,LMO7:NM_001306080:exon22:c.G3520C:p.D1174H	.	425	1090	7	0	0	7	0.00320073	.	.	.	3204636	LMO7-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.480	.	.	0.00359425	0.0018	9.658e-05	0.0004	0.0001	0	0	0.0023	0.0130	0.0016041	248	154602	rs534973931	0.0009	0.0009	0.0005	0.0013	0.0140	0.0008	0.0008	0.0134	0.0131	2.987e-05	0	0	2.519e-05	0	0.0016	8.094e-06	0.0010	0.0140	0.0005	0.0005	0.0001	0.0009	0.0147	0.0004	0.0004	0.0120	0.0110	2.407e-05	0	0	0	0.0002	0	0	0	0	0.0147	0.001	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.03	0.55439	T	-4.22	0.90178	D	0.952	0.96072	-0.2311	0.76858	T	0.430	0.77232	T	10	0.009250134	0.00209	T	.	.	.	0.540	0.80782	.	.	0.734656905842	0.73229	0.5409036767642961	0.54015	0.390911856538	0.40295	0.541012108326	0.44588	T	0.412845	0.76688	T	-0.0450364	0.45198	T	0.173563	0.81620	D	0.155904498551837	0.17564	T	0.955304	0.98769	D	.	.	.	.	.	.	.	.	-12.778	0.88427	D	.	.	0.766	0.76582	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.266768	0.88433	29.6	0.99655506862747112	0.77568	0.99031	0.90217	D	AEFBI	0.886768	0.81844	D	0.570517423094256	0.71340	5.636009	0.625599772743426	0.76804	6.559067	0.999999999999857	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.45	5.45	0.79688	7.666000	0.82835	11.698000	0.94457	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.663	0.95878	878	0.29785	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	749.33	33	chr13	75840433	.	G	C	749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.395;DP=665;ExcessHet=0;FS=1.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.031;SOR=0.436	GT:AD:DP:GQ:PL	0/1:20,29:49:99:763,0,472	18	0	1	0
chr13	95854379	95854379	C	T	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon35:c.G4105A:p.G1369R	.	435	1085	2	0	0	2	0.00092081	.	.	.	702745	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.672	0.142058154702	0.0032	0.00199681	0.0030	0.0009	0.0013	0	0.0056	0.0041	0.0033	0.0017	0.0030983	479	154602	rs145358686	0.0051	0.0051	0.0053	0.0049	0.0060	0.0050	0.0050	0.0058	0.0058	0.0008	0.0015	0.0002	0	0.0060	0.0021	0.0060	0.0046	0.0016	0.0037	0.0037	0.0039	0.0036	0.0059	0.0035	0.0034	0.0054	0.0052	0.0010	0.0099	0.0027	0	0	0.0056	0	0.0059	0.0024	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.69	0.94526	H	0.97	0.42502	T	-7.61	0.95366	D	0.943	0.95021	-0.0426	0.81363	T	0.319	0.68857	T	10	0.059627384	0.07198	T	0.142058	0.82445	D	0.672	0.87868	0.556	0.67409	0.685853827566	0.68316	0.837102667441113	0.83670	0.385331430999	0.39823	0.684976816177	0.64984	T	0.290313	0.66308	T	-0.0250279	0.48134	T	0.195138	0.82860	D	0.1431083026559	0.16540	T	0.992101	0.97494	D	0.9050004	0.91834	0.8922527	0.94426	0.9050004	0.91835	0.8922527	0.94427	-11.858	0.84152	D	.	.	0.23	0.46273	B	.	.	5.112324	0.85468	28.6	0.99934753574211344	0.99535	0.97791	0.77159	D	AEFBI	0.927851	0.91115	D	0.976938435614212	0.94991	13.21307	0.894574479680952	0.95331	13.52206	0.999999857615552	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.37	5.37	0.76949	7.568000	0.81546	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	19.099	0.93248	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.010101	0.000000	0.005848	0.000000	0.008621	0.003049	0.000000	0.02632	650.33	34	chr13	95854379	.	C	T	650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.086;DP=692;ExcessHet=0;FS=1.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=1.07;SOR=0.489	GT:AD:DP:GQ:PL	0/1:40,33:73:99:664,0,1034	18	0	1	0
chr13	110186475	110186475	G	A	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon26:c.C1807T:p.P603S	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	YES	513327	not_provided|Hemorrhage,_intracerebral,_susceptibility_to|Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome|Microangiopathy_and_leukoencephalopathy,_pontine,_autosomal_dominant|Brain_small_vessel_disease_1_with_or_without_ocular_anomalies|Retinal_arterial_tortuosity|Congenital_anomaly_of_kidney_and_urinary_tract	MedGen:C3661900|MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519|MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229|MONDO:MONDO:0032814,MedGen:C5231411,OMIM:618564,Orphanet:477749|MONDO:MONDO:0008289,MedGen:C4551998,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810|Human_Phenotype_Ontology:HP:0000631,MONDO:MONDO:0008373,MedGen:C0423401,OMIM:180000,Orphanet:75326|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.728	0.350169946826	.	.	1.689e-05	0	0	0	0	1.544e-05	0.0011	0	1.29e-05	2	154602	rs747585517	1.642e-05	1.642e-05	1.77e-05	1.513e-05	0.0003	1.111e-05	9.34e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.619e-05	4.968e-05	1.159e-05	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.049	0.39820	D	0.123	0.35582	T	0.954	0.54400	P	0.563	0.49647	P	0.000002	0.62929	D	0.060745	1	0.81001	D	2.36	0.67893	M	-4.06	0.96529	D	-4.49	0.78046	D	0.494	0.52740	0.928	0.96074	D	0.881	0.96035	D	10	0.7368567	0.74681	D	0.35017	0.92247	D	0.728	0.90457	0.471	0.54537	0.797550324333	0.79566	0.45766519602117356	0.45684	1.19757129527	0.80450	0.543149650097	0.44891	T	0.832095	0.96001	D	0.207399	0.74586	D	0.0601374	0.74253	D	0.935387015342712	0.60356	D	0.662034	0.27102	T	0.2562326	0.48661	0.3026562	0.56297	0.1854503	0.39908	0.30464837	0.56493	-7.026	0.54223	T	0.310055376845575	0.40791	0.088	0.11510	B	.	.	4.309602	0.65871	24.9	0.99478057955203736	0.66741	0.99048	0.90464	D	AEFDBI	0.928220	0.91209	D	0.611311158603558	0.73890	6.040452	0.582266993105831	0.73671	6.008442	0.999999999999883	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.12	4.12	0.47504	6.928000	0.75662	11.715000	0.94718	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	16.93	0.86058	994	0.00715	.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2529.33	38	chr13	110186475	.	G	A	2529.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.813;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.29;SOR=0.668	GT:AD:DP:GQ:PL	0/1:118,91:209:99:2543,0,3289	18	0	1	0
chr14	19413507	19413507	A	G	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon9:c.T1256C:p.M419T	.	485	1032	5	0	0	5	0.00241663	.	.	.	3901004	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00400049834791	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373618434	0.0012	0.0020	0.0012	0.0012	0.0014	0.0011	0.0011	0.0014	0.0013	0.0002	0.0005	0.0004	0	0.0004	0.0003	0.0014	0.0010	0.0002	0.0007	0.0010	0.0007	0.0007	0.0012	0.0006	0.0006	0.0009	0.0009	0.0002	0	0.0006	0	0	0.0003	0	0.0012	0	0.0007	0.004	0.65419	D	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.73	0.26445	T	-1.71	0.40660	N	0.149	0.15187	-0.9973	0.30673	T	0.034	0.14726	T	7	0.046810925	0.03919	T	0.004	0.09493	T	.	.	0.392	0.41606	0.110392049598	0.10638	0.03260756493049635	0.03208	.	.	0.728531122208	0.71292	T	0.006793	0.06218	T	-0.184233	0.23107	T	-0.502414	0.22099	T	0.0825541827368761	0.10311	T	0.469553	0.13876	T	0.07212819	0.16020	0.1996708	0.43860	0.07212819	0.16020	0.1996708	0.43859	-2.499	0.05774	T	.	.	0.200	0.42404	B	.	.	0.289330	0.06659	3.157	0.54346972993640974	0.05119	0.00210	0.01196	N	AEFI	0.027193	0.02178	N	-1.34842569924515	0.03141	0.1398448	-1.49717310713996	0.02368	0.1087769	3.77234846947537E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-1.991000	0.01567	-2.051000	0.04287	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	336.33	39	chr14	19413507	.	A	G	336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.121;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.18;MQRankSum=-1.209;QD=6.86;ReadPosRankSum=-0.277;SOR=0.73	GT:AD:DP:GQ:PL	0/1:30,19:49:99:350,0,678	18	0	1	0
chr14	63941927	63941927	A	G	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon5:c.A280G:p.I94V,SYNE2:NM_182914:exon5:c.A280G:p.I94V	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1512	9	1	0	11	0.00362438	.	.	.	336254	SYNE2-related_disorder|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided	.|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.473	0.152464930658	0.0003	0.000399361	0.0008	0.0001	0.0008	0.0002	0.0002	0.0008	0.0022	0.0016	0.0008215	127	154602	rs146748294	0.0007	0.0007	0.0007	0.0008	0.0031	0.0007	0.0007	0.0020	0.0017	8.963e-05	0.0007	0	2.522e-05	1.899e-05	0.0031	0.0008	0.0009	0.0016	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0007	0	0	0	0	0.0009	0.0047	0.0010	0.043	0.44029	D	0.032	0.53426	D	0.938	0.53885	P	0.831	0.63489	P	0.000027	0.55875	D	0.000000	0.989082	0.81001	D	-0.28	0.03718	N	-3.42	0.94348	D	-0.78	0.25770	N	0.306	0.34552	0.745	0.93732	D	0.773	0.92286	D	10	0.03389311	0.01579	T	0.152465	0.83387	D	0.473	0.76619	.	.	0.806011653667	0.80420	0.17203194891012316	0.17123	0.299232278164	0.32289	0.511077523232	0.40374	T	0.022874	0.76825	T	-0.174135	0.24612	T	-0.0475374	0.67192	D	0.0450195441899002	0.04606	T	0.868613	0.57103	D	0.1305061	0.30450	0.12122524	0.29251	0.11656406	0.27491	0.10324838	0.24767	-6.414	0.49736	T	.	.	0.106	0.19720	B	.;.;.;.;.	.;.;.;.;.	3.028303	0.40554	21.2	0.99551128572438252	0.71148	0.91971	0.54660	D	AEFBI	0.466247	0.51397	N	0.260400994215105	0.54157	3.581849	0.346427734522569	0.58295	3.999006	0.999985854805388	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	5.37	5.37	0.76949	4.647000	0.61115	7.070000	0.57437	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.682	0.77133	654	0.62520	.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology 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	0.002014	0.000000	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1896.33	33	chr14	63941927	.	A	G	1896.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.22;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.402;SOR=0.665	GT:AD:DP:GQ:PL	0/1:67,70:137:99:1910,0,1582	18	0	1	0
chr14	70978028	70978028	C	T	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.C1691T:p.T564I,PCNX1:NM_014982:exon6:c.C1691T:p.T564I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0290314532526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.41915	D	0.155	0.35205	T	0.664	0.41009	P	0.168	0.35187	B	0.000020	0.62929	D	0.113791	0.96476	0.40763	D	1.04	0.26193	L	5.43	0.00989	T	-1.73	0.41046	N	0.419	0.51494	-0.2283	0.76932	T	0.004	0.01470	T	10	0.25234908	0.42587	T	0.029031	0.51609	D	0.203	0.48915	0.233	0.16155	0.043077524339	0.03247	0.2241271112751639	0.22327	0.148518372193	0.16750	0.69328224659	0.66177	T	0.037614	0.24541	T	-0.174039	0.24626	T	-0.487771	0.23623	T	0.855947554111481	0.50685	D	0.911109	0.72788	D	0.080553934	0.18464	0.12115695	0.29235	0.080553934	0.18464	0.12115695	0.29234	-4.545	0.31473	T	.	.	0.218	0.66060	B	.;.	.;.	3.625607	0.51336	23.1	0.99393799716350639	0.62474	0.98150	0.80031	D	AEFGBI	0.343874	0.43954	N	0.25860145154748	0.54067	3.573146	0.379395349314254	0.60297	4.21562	0.999983218793124	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	4.154000	0.57902	7.620000	0.62269	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:1.0:0.0:0.0	20.207	0.98282	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2070.33	33	chr14	70978028	.	C	T	2070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.392;DP=869;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.129;SOR=0.677	GT:AD:DP:GQ:PL	0/1:72,80:152:99:2084,0,1924	18	0	1	0
chr14	77710840	77710840	C	A	exonic	SLIRP	.	nonsynonymous SNV	SLIRP:NM_001267863:exon2:c.C100A:p.Q34K,SLIRP:NM_001267864:exon2:c.C100A:p.Q34K,SLIRP:NM_031210:exon2:c.C100A:p.Q34K	.	.	.	.	.	.	.	.	.	.	.	4078591	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.15677159102	.	.	3.296e-05	0	0	0	0	4.497e-05	0	6.057e-05	2.59e-05	4	154602	rs369851843	4.652e-05	4.652e-05	3.948e-05	5.363e-05	0.0002	3.728e-05	3.411e-05	0.0001	9.45e-05	0	2.236e-05	0	0	0	0.0002	4.317e-05	3.312e-05	0.0002	2.627e-05	2.625e-05	3.856e-05	1.343e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.004	0.68238	D	0.009	0.66756	D	0.37	0.34076	B	0.128	0.32786	B	0.000059	0.53742	D	0.122940	0.746	0.33870	D	0.585	0.15399	N	2.38	0.85320	T	-1.18	0.44284	N	0.201	0.25622	-0.2483	0.76405	T	0.380	0.73714	T	10	0.22682074	0.39546	T	0.156772	0.83748	D	0.153	0.40148	0.551	0.66716	0.745210144403	0.74292	0.4859175198212696	0.48511	0.180147681555	0.20266	0.376862972975	0.21810	T	0.010103	0.30711	T	-0.143098	0.29397	T	-0.151178	0.59139	T	0.123438532477321	0.14763	T	0.878612	0.59716	D	0.19272989	0.40954	0.21041594	0.45428	0.19272989	0.40954	0.21041594	0.45427	-5.181	0.38840	T	.	.	0.354	0.65850	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.217169	0.43821	21.8	0.95981485113968468	0.28360	0.83927	0.43017	D	AEFBCI	0.656356	0.62837	D	-0.321616131445425	0.28329	1.561601	-0.207881881628357	0.31252	1.766907	0.999998767576955	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.72	3.83	0.43287	5.403000	0.66083	7.133000	0.57630	-0.361000	0.05505	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0:0.1459:0.8541:0.0	15.451	0.74999	813	0.42397	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|SLIRP, RNA recognition motif;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|SLIRP, RNA recognition motif;.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|SLIRP, RNA recognition motif;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|SLIRP, RNA recognition motif;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	796.33	34	chr14	77710840	.	C	A	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.967;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.632;SOR=0.614	GT:AD:DP:GQ:PL	0/1:43,37:80:99:810,0,1055	18	0	1	0
chr14	94379513	94379513	C	T	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon4:c.G1016A:p.G339E,SERPINA1:NM_001002235:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127700:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127702:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127706:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127707:exon5:c.G1016A:p.G339E,SERPINA1:NM_001002236:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127701:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127703:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127704:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127705:exon6:c.G1016A:p.G339E	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.015284713241	.	.	.	.	.	.	.	.	.	.	0.0252805	658	26028	rs186298255	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.405e-05	0.0081	2.626e-05	0.0001	0.0002	4.066e-05	3.196e-05	5.533e-05	2.903e-05	2.445e-05	0	0.0002	0	0.0002	0.0004	0	1.502e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.004	0.10090	B	0.201876	0.03325	N	1.632050	1	0.08975	N	-0.055	0.04927	N	-1.63	0.82440	D	1.6	0.00652	N	0.084	0.06059	-0.7416	0.58370	T	0.175	0.51816	T	10	0.06385669	0.08383	T	0.015285	0.35936	T	0.152	0.39956	0.358	0.36060	0.708489977135	0.70594	0.28805864301383166	0.28718	0.0536714916649	0.05925	0.246817171574	0.03440	T	0.12283	0.44678	T	-0.214714	0.18721	T	-0.546198	0.17693	T	0.0226976832768117	0.00987	T	0.0435956	0.00682	T	0.099375755	0.23451	0.08960794	0.20963	0.099375755	0.23451	0.08960794	0.20963	-2.39	0.25083	T	0.10573163998153827	0.08417	0.074	0.11510	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-1.212546	0.00518	0.012	0.47182625122801897	0.03837	0.02891	0.07678	N	AEFDBHCI	0.440912	0.49928	N	-1.78089906355498	0.00593	0.025575	-1.76931647493546	0.00863	0.03855153	0.99999997204157	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.38	-8.5	0.00808	-2.165000	0.01360	-20.000000	0.00162	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.320000	0.24970	0.0:0.1294:0.2015:0.6691	10.136	0.41880	917	0.20147	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	42.33	33	chr14	94379513	.	C	T	42.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1047;ExcessHet=0;FS=18.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=-3.373;QD=0.42;ReadPosRankSum=1.75;SOR=1.82	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,8:101:56:0|1:94379487_CCT_C:56,0,3855:94379487	18	0	1	0
chr14	96343124	96343124	G	A	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon5:c.C739T:p.P247S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0099	0.0109824	0.0029	0.0325	0.0008	0	0	0.0001	0.0023	0	0.002749	425	154602	rs61978568	0.0011	0.0011	0.0012	0.0009	0.0382	0.0010	0.0010	0.0364	0.0357	0.0382	0.0014	0.0004	0	0	0.0037	9.329e-05	0.0022	7.738e-05	0.0086	0.0087	0.0088	0.0085	0.0299	0.0083	0.0081	0.0285	0.0280	0.0299	0	0.0025	0.0003	0	9.452e-05	0.0068	0.0002	0.0085	0.0002	0.148	0.24857	T	0.491	0.11515	T	0.003	0.11197	B	0.002	0.06944	B	0.066119	0.21833	U	0.175635	0.708328	0.30038	N	0.255	0.09829	N	3.01	0.09075	T	-1.32	0.32991	N	0.218	0.24385	-1.0422	0.16651	T	0.004	0.01261	T	10	0.002218634	0.00032	T	.	.	.	0.091	0.26358	.	.	0.24896430686	0.24499	0.2838660515714775	0.28299	0.177357780111	0.19957	0.393960267305	0.24226	T	0.004032	0.03443	T	-0.531808	0.00375	T	-0.513684	0.20937	T	0.0167721531086214	0.00433	T	0.892111	0.62800	D	0.12477952	0.29268	0.111203775	0.26822	0.12477952	0.29267	0.111203775	0.26821	-4.047	0.24504	T	.	.	0.068	0.02765	B	.	.	2.743546	0.35944	20.1	0.98973859351361582	0.49580	0.93245	0.57704	D	AEFI	0.304594	0.41225	N	-0.357609084118033	0.26993	1.477579	-0.0977857194375228	0.35481	2.053312	0.998378309690135	0.36850	0.651	0.46895	0	0.546412	0.12157	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	4.93	0.64394	5.603000	0.67304	8.511000	0.77390	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1289:0.8711:0.0	16.795	0.85461	960	0.08626	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.016304	0.011696	0.000000	0.008621	0.000000	0.000000	0.02632	508.33	30	chr14	96343124	.	G	A	508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=644;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.15;ReadPosRankSum=0.172;SOR=1.042	GT:AD:DP:GQ:PL	0/1:9,19:28:99:522,0,150	18	0	1	0
chr14	100335036	100335036	C	T	exonic	WARS1	.	nonsynonymous SNV	WARS1:NM_213645:exon10:c.G1132A:p.D378N,WARS1:NM_213646:exon10:c.G1132A:p.D378N,WARS1:NM_004184:exon11:c.G1255A:p.D419N,WARS1:NM_173701:exon11:c.G1255A:p.D419N	.	428	1092	2	0	0	2	0.000914913	0.9991	0.948	YES	2477478	Neurodevelopmental_disorder_with_microcephaly_and_speech_delay,_with_or_without_brain_abnormalities	MONDO:MONDO:0957218,MedGen:C5830413,OMIM:620317	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.301	.	.	0.000199681	0.0004	9.638e-05	8.666e-05	0	0	3.01e-05	0.0011	0.0029	0.0003428	53	154602	rs550196955	0.0003	0.0003	0.0001	0.0004	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	2.521e-05	0	0.0017	3.149e-05	0.0002	0.0037	9.851e-05	9.843e-05	6.426e-05	0.0001	0.0019	6.004e-05	4.878e-05	0.0010	0.0007	0	0	0	0	0	0	0.0034	7.351e-05	0	0.0019	0.05	0.39575	D	0.119	0.36101	T	0.018	0.17786	B	0.03	0.21741	B	0.000000	0.84330	D	0.051278	1	0.81001	D	1.49	0.37298	L	-0.74	0.73205	T	-1.93	0.44852	N	0.212	0.30800	-0.2180	0.77204	T	0.463	0.79195	T	10	0.016776413	0.00355	T	0.091615	0.75740	D	0.301	0.62179	0.491	0.57732	0.715611795239	0.71311	0.6838345930203494	0.68322	0.46302476573	0.45817	0.432708799839	0.29579	T	0.348052	0.71609	T	-0.411813	0.01933	T	-0.367054	0.37232	T	0.101629134696159	0.12536	T	0.988589	0.96114	D	0.52023476	0.68273	0.2879645	0.54810	0.52023476	0.68274	0.2879645	0.54809	-8.084	0.61641	D	0.1732564547501966	0.21940	0.103	0.21390	B	.;.;.;.;.;.	.;.;.;.;.;.	4.470763	0.69666	25.4	0.9981558314286203	0.89885	0.97202	0.73292	D	AEFDGBHCI	0.951724	0.96654	D	0.246633516625505	0.53471	3.515943	0.341529700808954	0.58001	3.968078	0.999999999999998	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	7.450000	0.58952	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.558000	0.30364	0.0:1.0:0.0:0.0	19.129	0.93383	932	0.16191	.;.;.;.;.;.	.	.	.	.	.	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	0.002060	0.000000	0.002717	0.003356	0.000000	0.000000	0.000000	0.003788	0.02632	614.33	33	chr14	100335036	.	C	T	614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.533;DP=686;ExcessHet=0;FS=1.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.55;SOR=0.443	GT:AD:DP:GQ:PL	0/1:38,23:61:99:628,0,1184	18	0	1	0
chr14	103127397	103127397	G	A	exonic	TNFAIP2	.	nonsynonymous SNV	TNFAIP2:NM_001371220:exon3:c.G628A:p.A210T,TNFAIP2:NM_001371221:exon3:c.G628A:p.A210T,TNFAIP2:NM_006291:exon3:c.G628A:p.A210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0144292925837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.896	0.02448	T	0.189	0.28575	T	0.017	0.17573	B	0.002	0.06944	B	0.995122	0.07928	N	1.002150	0.999998	0.08975	N	0.55	0.14455	N	3.25	0.06762	T	-0.28	0.11547	N	0.024	0.00445	-0.8878	0.49122	T	0.008	0.02842	T	10	0.045698076	0.03670	T	0.014429	0.34542	T	0.029	0.06676	0.529	0.63560	0.262662153117	0.25859	0.1312081441457143	0.13045	0.284083675764	0.30837	0.734533667564	0.72169	T	0.052113	0.29070	T	-0.426009	0.01567	T	-0.849709	0.00963	T	0.0674309937454317	0.08286	T	0.454055	0.12934	T	0.061948456	0.12884	0.046804074	0.06605	0.061948456	0.12884	0.046804074	0.06604	-5.222	0.39165	T	.	.	0.075	0.05668	B	.;.	.;.	0.473340	0.08429	5.186	0.91746114212185936	0.21045	0.06794	0.12817	N	AEFDBCI	0.067557	0.13287	N	-1.93389052314483	0.00292	0.01254013	-1.92380449782973	0.00439	0.01942424	0.999999423891318	0.74766	0.72623	0.87236	0	0.709663	0.81188	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.61	-2.08	0.06852	-1.823000	0.01804	-0.114000	0.11796	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.1997:0.287:0.3778:0.1355	2.001	0.03256	636	0.64483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	615.33	39	chr14	103127397	.	G	A	615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.371;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.544;SOR=0.688	GT:AD:DP:GQ:PL	0/1:33,29:62:99:629,0,767	18	0	1	0
chr14	104033974	104033974	A	G	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon31:c.A3524G:p.E1175G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0183517724952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.029	0.54541	D	0.381	0.34388	B	0.196	0.36635	B	.	.	.	.	0.999995	0.81001	D	2.555	0.74557	M	3.68	0.04151	T	-4.36	0.76980	D	0.296	0.33469	-1.1406	0.01336	T	0.027	0.11441	T	9	0.28989682	0.46571	T	0.018352	0.40384	T	0.100	0.28662	0.466	0.53729	0.253205268125	0.24938	0.7819737737258743	0.78148	0.327345842699	0.34869	0.372429132462	0.21179	T	0.454583	0.79407	T	-0.17705	0.24176	T	-0.492096	0.23171	T	0.951647937297821	0.63608	D	0.806819	0.45619	T	0.24034259	0.46936	0.3954969	0.64215	0.24034259	0.46936	0.3954969	0.64215	-3.149	0.11867	T	.	.	0.212	0.44069	B	.	.	3.488252	0.48748	22.7	0.99783716582882298	0.87043	0.95080	0.63365	D	AEFBI	0.521807	0.54608	D	0.193797339206306	0.50900	3.275847	0.259712046554897	0.53205	3.49051	0.99961346172025	0.40981	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.09	5.09	0.68647	2.952000	0.48790	10.975000	0.84560	0.731000	0.85647	0.997000	0.40164	1.000000	0.68203	0.917000	0.45243	1.0:0.0:0.0:0.0	14.827	0.69752	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	0	0	.	.	.	.	.	.	.	.	0.02632	1128.33	70	chr14	104033974	.	A	G	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=802;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-0.444;SOR=0.588	GT:AD:DP:GQ:PL	0/1:36,38:74:99:1142,0,881	18	0	1	0
chr14	104949422	104949422	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5729T:p.S1910L,AHNAK2:NM_138420:exon7:c.C6029T:p.S2010L	.	445	1076	1	0	0	1	0.000464468	.	.	.	2807481	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.067	0.0101098432989	.	0.00139776	0.0002	0.0001	0.0003	0.0006	0	0.0002	0	0.0003	0.0002199	34	154602	rs201899110	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0003	0.0003	0	0.0006	0	0.0017	0.0001	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0004	0	0.0004	0	0	0.0002	0.0005	0.0009	0.083	0.33091	T	0.172	0.30241	T	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	1	0.08975	N	2.36	0.67893	M	4.05	0.03092	T	-3.19	0.64593	D	0.137	0.13484	-1.0820	0.06965	T	0.041	0.17827	T	9	0.03285396	0.01446	T	0.01011	0.26258	T	0.067	0.19503	.	.	0.214338557667	0.21045	0.01346506961960244	0.01304	.	.	0.214925557375	0.01038	T	0.024657	0.18589	T	-0.525336	0.00409	T	-0.633804	0.10128	T	0.037095270879791	0.03172	T	0.476352	0.14285	T	0.049542118	0.08812	0.09425488	0.22303	0.049542118	0.08812	0.09425488	0.22302	-9.404	0.70260	D	.	.	0.09	0.12607	B	.	.	2.603530	0.33800	19.45	0.99603908634374128	0.74397	0.03471	0.08627	N	AEFBI	.	.	.	-0.0225666740387743	0.40836	2.431969	-0.268595318667244	0.29140	1.630174	6.1762603597594E-4	0.07460	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.72	3.72	0.41857	0.496000	0.22207	-2.722000	0.03429	0.617000	0.49538	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	0.0:0.0:0.7985:0.2015	10.044	0.41345	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001654	0.000000	0.000000	0.004167	0.000000	0.000000	0.006897	0.000000	0.02778	2782.72	326	chr14	104949422	.	G	A	2782.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=3.44;DP=5911;ExcessHet=0;FS=0.453;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=56.77;MQRankSum=-3.853;QD=10.54;ReadPosRankSum=0.056;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,117:264:99:0|1:104949408_C_G:2796,0,3368:104949408	17	0	1	1
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1082.41	59	chr15	20534613	.	C	*	1082.41	.	AC=9;AF=0.25;AN=36;BaseQRankSum=0.242;DP=1470;ExcessHet=2.8258;FS=2.589;InbreedingCoeff=-0.1846;MLEAC=9;MLEAF=0.25;MQ=53.63;MQRankSum=0.168;QD=1.42;ReadPosRankSum=2.06;SOR=0.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,22:54:99:.:.:1112,367,897:.	9	0	9	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2533.1	45	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	2533.1	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.391;DP=1435;ExcessHet=5.5644;FS=2.545;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=51.31;MQRankSum=1.09;QD=3.44;ReadPosRankSum=-0.721;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,22:37:99:.:.:918,178,966:.	11	0	8	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10:43:99:0|1:20534644_TCCCG_*:319,0,1181:20534644	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10:43:99:0|1:20534644_TCCCG_*:319,0,1181:20534644	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10:43:99:0|1:20534644_TCCCG_*:319,0,1181:20534644	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10:43:99:0|1:20534644_TCCCG_*:319,0,1181:20534644	4	0	15	0
chr15	21439940	21439940	C	T	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon1:c.G72A:p.M24I	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00401263891288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	5.476e-06	2.727e-06	2.754e-06	4.476e-05	6.4e-07	4.3e-07	7.42e-06	2.78e-06	0	4.476e-05	0	0	0	0	0	3.318e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.14480	.	.	.	.	.	.	.	0.091341615	0.15991	T	0.004013	0.09525	T	.	.	.	.	0.0846915920261	0.08053	0.0026473987493642256	0.00245	.	.	0.609600365162	0.54259	T	0.020094	0.15881	T	-0.187436	0.22636	T	-0.507015	0.21623	T	.	.	.	0.794321	0.43637	T	0.2963964	0.52580	0.3849593	0.63424	0.2963964	0.52579	0.3849593	0.63424	-7.113	0.54854	T	.	.	0.505	0.64812	A	.	.	1.181301	0.15720	12.05	0.98024265962892865	0.37658	0.00331	0.01727	N	AEFI	0.024866	0.01609	N	.	.	.	.	.	.	1.54491641097197E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.702	0.702	0.17269	0.907000	0.28154	0.912000	0.22635	0.407000	0.20612	0.105000	0.22895	0.003000	0.18671	0.045000	0.14751	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1445.33	33	chr15	21439940	.	C	T	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.354;DP=1232;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.58;MQRankSum=0.372;QD=3.42;ReadPosRankSum=-0.247;SOR=0.862	GT:AD:DP:GQ:PL	0/1:334,88:422:99:1459,0,9581	18	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,44:44:99:1433,132,0	0	13	3	3
chr15	22608280	22608280	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon16:c.A1420G:p.K474E	.	181	1314	25	2	0	29	0.0109146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.000518772353122	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201889124	0.0064	0.0066	0.0055	0.0072	0.0317	0.0062	0.0062	0.0307	0.0303	0.0153	0.0059	0.0146	0.0011	0.0005	0.0110	0.0042	0.0084	0.0317	0.0085	0.0095	0.0083	0.0087	0.0383	0.0081	0.0080	0.0337	0.0319	0.0150	0	0.0050	0.0189	0.0016	0.0006	0.0174	0.0048	0.0085	0.0383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	2923.79	41	chr15	22608280	.	T	C	2923.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.96;DP=878;ExcessHet=0.3672;FS=1.06;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=30.58;MQRankSum=-0.098;QD=13.35;ReadPosRankSum=-0.591;SOR=0.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,33:66:99:0|1:22608274_T_C:1265,0,1281:22608274	16	0	3	0
chr15	22613582	22613582	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon6:c.A367G:p.K123E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000391549554927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465477789	3.949e-06	7.102e-06	3.951e-06	3.947e-06	6.455e-05	9.2e-07	6.2e-07	1.069e-05	4e-06	0	3.955e-05	0	6.455e-05	0	0	1.282e-06	0	0	0	1.423e-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	.	.	.	.	.	.	.	.	0.02632	52.34	14	chr15	22613582	.	T	C	52.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.068;DP=436;ExcessHet=0;FS=3.68;InbreedingCoeff=-0.0275;MLEAC=1;MLEAF=0.026;MQ=28.16;MQRankSum=-0.484;QD=7.48;ReadPosRankSum=-0.652;SOR=0.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,3:7:66:0|1:22613582_T_C:66,0,107:22613582	18	0	1	0
chr15	22909199	22909199	T	C	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001033028:exon6:c.A1090G:p.I364V,CYFIP1:NM_001324125:exon18:c.A2017G:p.I673V,CYFIP1:NM_001324124:exon20:c.A2293G:p.I765V,CYFIP1:NM_001324126:exon20:c.A2281G:p.I761V,CYFIP1:NM_001324119:exon21:c.A2485G:p.I829V,CYFIP1:NM_001324120:exon21:c.A2383G:p.I795V,CYFIP1:NM_001324123:exon21:c.A2383G:p.I795V,CYFIP1:NM_014608:exon21:c.A2383G:p.I795V,CYFIP1:NM_001287810:exon22:c.A2383G:p.I795V,CYFIP1:NM_001324122:exon22:c.A703G:p.I235V	.	430	1079	13	0	0	13	0.00598802	.	.	.	703082	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.137	0.0054607550772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs142727980	0.0059	0.0059	0.0057	0.0061	0.0121	0.0058	0.0058	0.0115	0.0112	0.0009	0.0017	0.0009	0	0.0059	0.0049	0.0061	0.0051	0.0121	0.0038	0.0038	0.0040	0.0035	0.0099	0.0035	0.0034	0.0077	0.0069	0.0008	0	0.0037	0.0003	0	0.0036	0	0.0056	0.0057	0.0099	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.23380	.	.	.	.	.	.	.	0.035675883	0.01827	T	.	.	.	.	.	.	.	.	.	0.928460371080354	0.92824	.	.	.	.	.	0.111272	0.42663	T	.	.	.	.	.	.	.	.	.	0.888211	0.61727	D	.	.	.	.	.	.	.	.	-4.494	0.30810	T	.	.	0.067	0.02370	B	.;.;.	.;.;.	2.261122	0.28895	17.95	.	.	.	.	.	.	0.668061	0.63597	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.393000	0.52286	0.692000	0.20773	0.665000	0.62972	1.000000	0.71638	0.465000	0.25022	0.994000	0.71098	.	.	.	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1213.33	33	chr15	22909199	.	T	C	1213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.11;DP=759;ExcessHet=0;FS=1.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.21;SOR=0.531	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1227,0,1380	18	0	1	0
chr15	23364400	23364400	C	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.C766A:p.Q256K	.	48	1435	31	2	6	41	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00481352493947	.	0.00299521	0.0033	0.0060	0.0025	0.0011	0.0026	0.0038	0.0069	0.0018	0.0028137	435	154602	rs190023905	0.0018	0.0029	0.0017	0.0019	0.0181	0.0018	0.0017	0.0152	0.0141	0.0021	0.0015	0.0135	0.0006	0.0021	0.0181	0.0015	0.0025	0.0015	0.0015	0.0024	0.0015	0.0015	0.0016	0.0013	0.0013	0.0013	0.0012	0.0003	0	0.0016	0.0135	0.0012	0.0019	0.0207	0.0015	0.0010	0.0013	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.57	0.89692	D	-0.18	0.09796	N	0.184	0.19995	.	.	.	.	.	.	.	0.004205942	0.00084	T	0.004814	0.12035	T	.	.	.	.	0.86273415683	0.86140	0.3669056785769498	0.36604	0.763659519793	0.64390	.	.	.	.	.	.	-0.305839	0.08119	T	-0.231107	0.51665	T	.	.	.	0.476552	0.14308	T	0.04579843	0.07558	0.04903152	0.07407	0.04579843	0.07558	0.04903152	0.07407	-3.619	0.18132	T	.	.	0.075	0.05668	B	.	.	0.292315	0.06685	3.189	0.58087947744829294	0.05914	0.28105	0.23462	N	AEFCI	0.187209	0.31450	N	.	.	.	.	.	.	1.42962172204828E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.83	-0.343	0.12004	0.830000	0.27115	1.532000	0.27166	0.278000	0.18600	1.000000	0.71638	0.003000	0.18671	0.001000	0.02609	0.0:0.7074:0.2926:0.0	6.797	0.22917	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6640.54	73	chr15	23364400	.	C	A	6640.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.67;DP=1243;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.73;MQRankSum=2.4;QD=13.69;ReadPosRankSum=0.104;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,67:142:99:.:.:1748,0,1827:.	17	0	2	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,38:116:99:.:.:1331,0,2518:.	0	0	19	0
chr15	28531124	28531124	T	C	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001350919:exon2:c.A89G:p.K30R,GOLGA8F:NM_001350920:exon2:c.A53G:p.K18R	.	705	813	2	2	0	6	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00642619408815	.	.	0.0011	0	0	0	0	0.0016	0	0	.	.	.	rs768817884	0.0002	0.0001	0.0003	0.0002	0.0017	0.0002	0.0002	0.0005	0.0002	0	0.0004	0	0	0	0.0017	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	6.316e-05	0.0002	5.991e-05	4.347e-05	9.529e-05	6.936e-05	0	0	0	0	0	0	0	0.0002	0	0	0.475	0.08359	T	0.191	0.28391	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.89	0.45636	T	-2.08	0.47514	N	0.118	0.10769	.	.	.	.	.	.	.	0.035066783	0.01739	T	0.006426	0.16899	T	.	.	.	.	0.158396225186	0.15383	0.15930807767843935	0.15851	2.14202095503	0.95240	.	.	.	.	.	.	-0.556285	0.00267	T	-0.7109	0.05249	T	.	.	.	0.573243	0.20505	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.23148	B	.	.	0.270553	0.06484	2.959	0.98752220707641203	0.45679	0.00163	0.00971	N	AEFI	0.021675	0.00992	N	.	.	.	.	.	.	2.07638995586446E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.763	-1.53	0.08156	-0.263000	0.08695	-0.189000	0.11056	0.197000	0.17898	0.849000	0.30428	0.000000	0.08366	0.030000	0.13115	0.0:0.507:0.0:0.493	4.123	0.09584	422	0.81333	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	741.76	.	chr15	28531124	.	T	C	741.76	.	AC=1;AF=0.042;AN=24;BaseQRankSum=0.664;DP=434;ExcessHet=0;FS=1.072;InbreedingCoeff=-0.0435;MLEAC=1;MLEAF=0.042;MQ=32.81;MQRankSum=-0.344;QD=13.74;ReadPosRankSum=-0.616;SOR=0.885	GT:AD:DP:GQ:PL	0/1:19,35:54:99:752,0,316	11	0	1	7
chr15	30614278	30614278	T	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon18:c.T1700C:p.L567P,GOLGA8T:NM_001355469:exon18:c.T1700C:p.L567P	.	166	1344	12	0	0	12	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00521074945836	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751050580	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0022	0.0018	3.129e-05	0.0018	0	2.71e-05	5.275e-05	0.0036	0.0002	0.0004	0.0006	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0023	0.0020	4.881e-05	0	0.0030	0.0003	0	0	0	0.0002	0.0010	0.0006	0.07	0.35349	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.919864	0.36646	D	2.36	0.67893	M	1.33	0.35031	T	-5.46	0.85541	D	0.251	0.28381	.	.	.	.	.	.	.	0.03756544	0.02119	T	0.005211	0.13279	T	.	.	.	.	0.369682402691	0.36581	0.3928589694864999	0.39200	4.073624099	0.99889	.	.	.	0.040787	0.25642	T	-0.489659	0.00652	T	-0.481065	0.24334	T	.	.	.	0.730627	0.34608	T	0.6340144	0.74512	0.57270443	0.75252	0.6340144	0.74513	0.57270443	0.75252	-2.09	0.03541	T	.	.	0.135	0.29228	B	.	.	2.013793	0.25593	16.82	0.99056653295261643	0.51390	0.00768	0.03170	N	AEFI	0.075431	0.15147	N	.	.	.	.	.	.	1.24580606210035E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.049000	0.13983	-0.871000	0.07103	0.142000	0.17677	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.0:5.0E-4:0.0:0.9995	4.588	0.11685	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	764.33	33	chr15	30614278	.	T	C	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=739;ExcessHet=0;FS=4.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.38;MQRankSum=1.04;QD=10.33;ReadPosRankSum=0.901;SOR=1.362	GT:AD:DP:GQ:PL	0/1:40,34:74:99:778,0,856	18	0	1	0
chr15	32168303	32168303	G	A	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.G1354A:p.E452K,CHRNA7:NM_001190455:exon10:c.G1441A:p.E481K	Schizophrenia, neurophysiologic defect in	51	1428	43	0	0	43	0.0148327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00657931159067	.	.	0.0046	0	0	0	.	0.0081	.	0	0.0002305	6	26028	rs199504752	0.0045	0.0050	0.0044	0.0047	0.0153	0.0044	0.0044	0.0121	0.0109	0.0007	0.0049	0.0080	2.88e-05	0.0015	0.0153	0.0045	0.0053	0.0085	0.0034	0.0039	0.0036	0.0032	0.0076	0.0031	0.0030	0.0057	0.0053	0.0006	0.0077	0.0068	0.0047	0	0.0013	0.0179	0.0042	0.0088	0.0076	0.278	0.15613	T	0.264	0.23707	T	0.846	0.46778	P	0.531	0.48577	P	0.002256	0.36929	N	0.317619	0.999998	0.58761	D	1.82	0.47800	L	1.82	0.25018	T	-2.32	0.51968	N	0.429	0.53532	-1.1207	0.02288	T	0.070	0.28478	T	10	0.007461101	0.00170	T	0.006579	0.17358	T	0.159	0.41286	.	.	0.447901950027	0.44410	0.5973885767010677	0.59669	.	.	0.695635795593	0.66515	T	0.746071	0.93005	D	-0.0649489	0.42131	T	-0.331071	0.41350	T	0.0448825108585944	0.04581	T	0.953805	0.82399	D	0.21978775	0.44518	0.20101556	0.44061	0.21978775	0.44518	0.20101556	0.44060	-12.443	0.86942	D	.	.	0.117	0.37255	B	.;.;.;.;.	.;.;.;.;.	4.729647	0.76160	26.5	0.9986754952357213	0.94547	0.97502	0.75165	D	AEFGI	0.915276	0.87984	D	0.406373100601256	0.61773	4.382947	0.429274054156304	0.63395	4.572528	0.999550702800369	0.40362	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.99	3.99	0.45527	6.388000	0.73122	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	14.406	0.66656	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.023046	0.000000	0.026786	0.013514	0.250000	0.031250	0.019737	0.014085	0.02632	183.33	30	chr15	32168303	.	G	A	183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.35;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.78;MQRankSum=-0.646;QD=2.62;ReadPosRankSum=0.144;SOR=0.057	GT:AD:DP:GQ:PL	0/1:57,13:70:99:197,0,1566	18	0	1	0
chr15	40266391	40266391	C	T	exonic	BUB1B-PAK6;PAK6	.	nonsynonymous SNV	PAK6:NM_001276717:exon3:c.C754T:p.R252W,BUB1B-PAK6:NM_001128629:exon4:c.C754T:p.R252W,BUB1B-PAK6:NM_001128628:exon5:c.C754T:p.R252W,PAK6:NM_001276718:exon5:c.C754T:p.R252W,PAK6:NM_020168:exon5:c.C754T:p.R252W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0477212368119	.	.	2.623e-05	0	0	0	0	1.598e-05	0	0.0001	1.94e-05	3	154602	rs768072309	4.108e-06	4.104e-06	4.087e-06	4.129e-06	4.64e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	3.827e-05	0	0	0	8.994e-07	0	4.64e-05	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.018	0.64786	D	0.926	0.51467	P	0.226	0.38054	B	0.828997	0.09121	N	0.923198	0.995443	0.23288	N	0.345	0.11182	N	-0.83	0.74583	T	-2.21	0.51646	N	0.339	0.39659	-0.7185	0.59536	T	0.273	0.64443	T	10	0.22184044	0.38919	T	0.047721	0.63052	D	0.282	0.59981	0.32	0.29902	0.858141165372	0.85677	0.16860705132599502	0.18434	0.298554840959	0.32233	0.414137750864	0.27029	T	0.515221	0.82940	D	-0.133775	0.30888	T	-0.226335	0.52126	T	0.388751089240723	0.28517	T	0.910709	0.68343	D	0.1261499	0.29554	0.20576389	0.44761	0.1261499	0.29554	0.20576389	0.44760	-6.811	0.52908	T	.	.	0.102	0.26917	B	.;.;.;.;.;.	.;.;.;.;.;.	4.266102	0.64870	24.8	0.99859088301513732	0.93729	0.79469	0.39385	D	AEFGBI	0.562629	0.57015	D	0.126290466770283	0.47692	2.991342	0.202586091870062	0.49992	3.195884	0.999999982899802	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.631631	0.49550	0	.	.	5.35	5.35	0.76297	0.926000	0.28405	1.101000	0.24069	0.599000	0.40250	0.713000	0.28751	0.002000	0.18203	0.996000	0.76049	0.2131:0.7869:0.0:0.0	14.619	0.68168	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1302.33	37	chr15	40266391	.	C	T	1302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.019;SOR=0.698	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1316,0,1346	18	0	1	0
chr15	42147722	42147722	C	T	exonic	PLA2G4F	.	nonsynonymous SNV	PLA2G4F:NM_213600:exon12:c.G1100A:p.R367Q	.	430	1083	9	0	0	9	0.00413793	.	.	.	3376066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.396	0.0383399024703	.	.	6.726e-05	0	0	0	0	1.533e-05	0	0.0004	5.17e-05	8	154602	rs771499054	3.702e-05	3.694e-05	2.319e-05	5.099e-05	0.0005	2.9e-05	2.598e-05	0.0003	0.0003	0	2.239e-05	0	0	0	0.0005	6.305e-06	6.647e-05	0.0005	6.584e-06	6.574e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000010	0.62929	D	0.000000	0.996789	0.43415	D	4.07	0.97156	H	.	.	.	.	.	.	0.936	0.94196	-0.6600	0.62276	T	0.175	0.51959	T	10	0.930815	0.92421	D	0.03834	0.58162	D	0.396	0.71084	0.843	0.94784	0.621089364347	0.61801	0.8115974584509299	0.81114	.	.	0.567460775375	0.48319	T	0.18752	0.54114	T	0.209939	0.74825	D	0.385753	0.91630	D	0.992177784442902	0.82591	D	0.953405	0.82184	D	0.61637557	0.73569	0.4087058	0.65180	0.61637557	0.73570	0.4087058	0.65180	-10.73	0.78156	D	.	.	0.322	0.54675	B	.	.	5.715980	0.93200	33	0.99953925100581664	0.99963	0.97563	0.75570	D	AEFBI	0.773675	0.70761	D	0.879213215446896	0.90704	10.52667	0.804835781950899	0.90128	10.26825	0.999999999588356	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.99	4.99	0.65942	4.989000	0.63600	7.487000	0.59324	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.773000	0.36634	0.0:1.0:0.0:0.0	18.828	0.92093	250	0.90192	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	.	.	.	.	.	.	.	.	0.02632	1230.33	42	chr15	42147722	.	C	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.246;DP=727;ExcessHet=0;FS=1.001;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=-0.406;SOR=0.561	GT:AD:DP:GQ:PL	0/1:21,45:66:99:1244,0,468	18	0	1	0
chr15	43432573	43432573	-	TCA	exonic	TP53BP1	.	nonframeshift insertion	TP53BP1:NM_001141979:exon17:c.3295_3296insTGA:p.I1098_S1099insM,TP53BP1:NM_001141980:exon17:c.3295_3296insTGA:p.I1098_S1099insM,TP53BP1:NM_005657:exon17:c.3280_3281insTGA:p.I1093_S1094insM,TP53BP1:NM_001355001:exon18:c.415_416insTGA:p.I138_S139insM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0	0.0003	0	0	0.0004	0	0	0.0002005	31	154602	rs770061239	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0	0.0004	0	0	0	0	0.0003	4.967e-05	0	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0	0	0.0002	0	0	0	0	0.0004	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1421.29	33	chr15	43432573	.	C	CTCA	1421.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.413;DP=752;ExcessHet=0;FS=6.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.827;SOR=1.469	GT:AD:DP:GQ:PL	0/1:51,39:90:99:1435,0,1979	18	0	1	0
chr15	45421161	45421161	A	G	exonic	SPATA5L1	.	nonsynonymous SNV	SPATA5L1:NM_024063:exon8:c.A2213G:p.Y738C	.	.	.	.	.	.	.	.	.	.	.	2211402	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.206088224809	0.0007	0.000199681	0.0004	0.0002	0	0	0	0.0007	0	6.081e-05	0.0003622	56	154602	rs144102603	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	9.057e-05	4.589e-05	0.0007	0	0	0.0002	0.0006	0.0005	1.175e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	4.809e-05	0	0.0002	0.0012	0	0	0	0.0007	0	0	0.001	0.78490	D	0.001	0.83351	D	0.995	0.67487	D	0.991	0.79672	D	0.000509	0.43753	D	0.158061	0.872693	0.28180	N	2.82	0.82106	M	-3.69	0.95317	D	-7.54	0.95160	D	0.303	0.34228	0.881	0.95420	D	0.884	0.96155	D	10	0.33710006	0.50838	T	0.206088	0.87020	D	0.750	0.91413	.	.	0.832418233466	0.83082	0.8020061257417183	0.80154	0.226757036249	0.25220	0.396877735853	0.24635	T	0.357424	0.72413	T	-0.0360052	0.46539	T	0.0792543	0.75527	D	0.275392264127731	0.23977	T	0.737326	0.35372	T	0.61193293	0.73332	0.5989767	0.76707	0.61193293	0.73333	0.5989767	0.76708	-10.484	0.76755	D	.	.	0.108	0.20469	B	.	.	4.353516	0.66884	25.0	0.99760466150901528	0.85011	0.85822	0.44999	D	AEBI	0.208565	0.33464	N	0.451366842087496	0.64279	4.679059	0.39506658261784	0.61261	4.323648	0.137881259931324	0.17216	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.46	2.77	0.31614	2.823000	0.47781	4.990000	0.46521	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8317:0.0:0.1683:0.0	9.885	0.40422	559	0.71409	.	.	.	.	.	.	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	0.003067	0.000000	0.02632	778.33	34	chr15	45421161	.	A	G	778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.45;DP=690;ExcessHet=0;FS=5.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.941;SOR=0.821	GT:AD:DP:GQ:PL	0/1:33,28:61:99:792,0,764	18	0	1	0
chr15	50722170	50722170	A	T	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon13:c.T1281A:p.D427E	.	439	1074	8	1	0	10	0.00463392	.	.	.	1145292	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.538	0.030855879821	0.0016	0.00179712	0.0024	0.0007	0.0020	0	0.0003	0.0035	0.0045	0.0012	0.0024256	375	154602	rs116939379	0.0027	0.0027	0.0026	0.0027	0.0141	0.0026	0.0026	0.0117	0.0107	0.0010	0.0034	0.0081	2.525e-05	0.0001	0.0141	0.0028	0.0039	0.0011	0.0029	0.0029	0.0029	0.0030	0.0080	0.0027	0.0026	0.0069	0.0065	0.0008	0.0175	0.0080	0.0043	0	0	0.0170	0.0035	0.0047	0.0010	0.021	0.49117	D	0.027	0.55341	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.991046	0.41295	D	3.115	0.87836	M	1.53	0.30401	T	-3.8	0.71762	D	0.962	0.97207	-0.8633	0.51025	T	0.126	0.43153	T	10	0.04637426	0.03821	T	0.030856	0.53076	D	0.538	0.80664	0.913	0.98308	0.446410834509	0.44261	0.8622458910193934	0.86188	0.575806221933	0.53563	0.533789992332	0.43569	T	0.199681	0.55703	T	-0.0765264	0.40277	T	0.118252	0.78120	D	0.0817517520920772	0.10211	T	0.956054	0.83312	D	0.40948978	0.61384	0.40751737	0.65095	0.40948978	0.61384	0.40751737	0.65095	-10.758	0.78314	D	.	.	0.963	0.88388	P	.	.	4.099088	0.61106	24.3	0.9962983951662201	0.75959	0.98843	0.87588	D	AEFGBI	0.587256	0.58498	D	0.713243098623663	0.80500	7.308039	0.703294386876114	0.82628	7.814542	0.781394137222398	0.23849	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	5.354000	0.65806	2.669000	0.33934	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9303:0.0:0.0697:0.0	11.913	0.52033	346	0.85643	.	.	.	.	.	.	Likely benign	0	0	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	0.007049	0.010101	0.004076	0.017544	0.000000	0.000000	0.000000	0.003788	0.02632	977.33	33	chr15	50722170	.	A	T	977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=712;ExcessHet=0;FS=2.725;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.826;SOR=0.805	GT:AD:DP:GQ:PL	0/1:51,42:93:99:991,0,1173	18	0	1	0
chr15	65928461	65928461	C	T	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385030:exon11:c.G1414A:p.V472I,MEGF11:NM_001385031:exon12:c.G1399A:p.V467I,MEGF11:NM_001385032:exon12:c.G1399A:p.V467I,MEGF11:NM_001385028:exon13:c.G1639A:p.V547I,MEGF11:NM_001385029:exon13:c.G1639A:p.V547I,MEGF11:NM_001385033:exon13:c.G1639A:p.V547I,MEGF11:NM_032445:exon13:c.G1639A:p.V547I	.	423	1080	19	0	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0057	0.0161741	0.0082	0.0110	0.0018	0.0005	0.0041	0.0023	0.0067	0.0405	0.0074708	1155	154602	rs137866207	0.0047	0.0048	0.0038	0.0057	0.0379	0.0046	0.0046	0.0368	0.0364	0.0104	0.0022	0.0023	0.0002	0.0042	0.0035	0.0023	0.0057	0.0379	0.0060	0.0060	0.0054	0.0067	0.0417	0.0057	0.0056	0.0370	0.0351	0.0107	0	0.0039	0.0017	0.0010	0.0042	0	0.0022	0.0024	0.0417	0.372	0.12148	T	0.459	0.16717	T	0.045	0.24734	B	0.017	0.21332	B	0.242038	0.15691	N	0.461218	0.999999	0.58761	D	1.61	0.41143	L	1.42	0.33189	T	-0.56	0.17003	N	0.233	0.29429	-1.0399	0.17343	T	0.021	0.08686	T	10	0.0032506585	0.00055	T	.	.	.	0.012	0.01476	.	.	0.132336055621	0.12781	0.10269579567288208	0.10199	0.0764374935664	0.08578	0.291206181049	0.09098	T	0.01175	0.10435	T	-0.67641	0.00050	T	-0.715116	0.05035	T	0.00637294836016821	0.00071	T	0.517348	0.18358	T	0.014421166	0.00092	0.026225425	0.00701	0.014421166	0.00092	0.026225425	0.00701	-5.082	0.37717	T	.	.	0.069	0.03849	B	.;.;.;.	.;.;.;.	0.318226	0.06928	3.473	0.92647063172426736	0.22123	0.20762	0.21159	N	AEFDHCI	0.080202	0.16213	N	-0.85728485817332	0.11871	0.5753459	-0.829400443736952	0.13783	0.7169121	0.999770147063817	0.42865	0.713056	0.82018	0	0.615948	0.52940	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	4.03	1.01	0.19044	-0.160000	0.10029	-4.029000	0.02384	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.314000	0.24830	0.0:0.6534:0.0:0.3466	8.568	0.32715	184	0.92813	Laminin EGF domain|Laminin EGF domain|EGF-like domain;.;Laminin EGF domain|Laminin EGF domain|EGF-like domain;Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006592	0.000000	0.005450	0.008772	0.000000	0.017241	0.000000	0.019231	0.07895	1938.77	35	chr15	65928461	.	C	T	1938.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.12;DP=695;ExcessHet=0;FS=0.836;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.2;ReadPosRankSum=-0.099;SOR=0.567	GT:AD:DP:GQ:PL	0/1:26,25:51:99:537,0,630	17	1	1	0
chr15	73994862	73994862	G	C	exonic	PML	.	nonsynonymous SNV	PML:NM_002675:exon1:c.G50C:p.R17P,PML:NM_033238:exon1:c.G50C:p.R17P,PML:NM_033239:exon1:c.G50C:p.R17P,PML:NM_033240:exon1:c.G50C:p.R17P,PML:NM_033244:exon1:c.G50C:p.R17P,PML:NM_033246:exon1:c.G50C:p.R17P,PML:NM_033247:exon1:c.G50C:p.R17P,PML:NM_033249:exon1:c.G50C:p.R17P,PML:NM_033250:exon1:c.G50C:p.R17P	Leukemia, acute promyelocytic, PML/RARA type (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00428578490907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.165e-05	0.0002	1.324e-05	1.004e-05	1.308e-05	6.76e-06	5.29e-06	6.97e-06	5.51e-06	0	0	0	0	5.359e-05	0	1.308e-05	0	0	0	2.001e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.152	0.24564	T	0.306	0.31326	T	0.001	0.07471	B	0.001	0.06944	B	0.012886	0.01348	N	2.625390	1	0.08975	N	0	0.06538	N	0.95	0.43672	T	-0.3	0.11913	N	0.11	0.12627	-1.0586	0.12108	T	0.033	0.14377	T	10	0.03748083	0.02105	T	0.004286	0.10373	T	0.026	0.05648	0.268	0.21576	0.218628672733	0.21463	0.1633260524037988	0.16252	1.19061195492	0.80273	0.467194288969	0.34295	T	0.291766	0.66451	T	-0.316662	0.07175	T	-0.692639	0.06237	T	0.105502487800016	0.12951	T	0.705929	0.31637	T	0.09975149	0.23545	0.10326324	0.24771	0.09975149	0.23545	0.10326324	0.24770	-2.066	0.03441	T	.	.	0.073	0.09239	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.006708	0.04328	1.099	0.52933182279529822	0.04842	0.43148	0.27034	N	ALL	0.071879	0.14325	N	-2.16458250169479	0.00092	0.00393349	-2.19851327911447	0.00113	0.004960706	0.999999999999905	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.16	-7.45	0.01229	-1.040000	0.03657	-1.377000	0.05583	-2.387000	0.00298	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2299:0.3296:0.2503:0.1902	1.229	0.01821	753	0.51500	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	62.33	33	chr15	73994862	.	G	C	62.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.59;DP=768;ExcessHet=0;FS=117.594;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=-2.566;SOR=6.356	GT:AD:DP:GQ:PL	0/1:103,23:126:76:76,0,2277	18	0	1	0
chr15	76203798	76203798	A	G	exonic	TMEM266	.	nonsynonymous SNV	TMEM266:NM_152335:exon11:c.A1079G:p.H360R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.112915829842	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs200903166	2.257e-05	2.257e-05	1.633e-05	2.888e-05	0.0004	1.61e-05	1.416e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.311e-05	0.0004	6.573e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.008	0.67890	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	0.32	0.58468	T	-2.42	0.53096	N	0.923	0.92667	-0.2439	0.76524	T	0.370	0.72970	T	10	0.68475616	0.71493	D	0.112916	0.79123	D	0.392	0.70764	0.363	0.36874	0.794748413621	0.79283	0.7918707270029302	0.79139	0.879149402424	0.69706	.	.	.	0.14703	0.48491	T	-0.129466	0.31582	T	-0.10759	0.62803	T	0.375374798492947	0.28004	T	0.856214	0.54490	D	0.587353	0.72008	0.4622237	0.68776	0.587353	0.72009	0.4622237	0.68776	-4.255	0.27541	T	.	.	0.295	0.52598	B	.	.	4.022902	0.59433	24.1	0.99683370433299967	0.79440	0.96691	0.70426	D	AEFDGBCI	0.871518	0.79296	D	0.66443890054822	0.77307	6.649506	0.596286493213839	0.74671	6.177208	0.999999880094441	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.0	5.0	0.66209	8.548000	0.90471	10.929000	0.84277	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	1.0:0.0:0.0:0.0	12.457	0.55047	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	.	.	.	.	.	.	.	.	0.02632	1870.33	42	chr15	76203798	.	A	G	1870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.426;DP=963;ExcessHet=0;FS=3.096;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-1.867;SOR=0.784	GT:AD:DP:GQ:PL	0/1:139,84:223:99:1884,0,3735	18	0	1	0
chr15	81290495	81290495	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_001172128:exon11:c.G1375A:p.E459K,IL16:NM_001352686:exon11:c.G1528A:p.E510K,IL16:NM_172217:exon11:c.G1375A:p.E459K,IL16:NM_001352685:exon12:c.G865A:p.E289K	.	420	1075	27	0	0	27	0.0124024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	.	0.0135783	0.0105	0.0002	0.0011	0.0002	0	3.015e-05	0.0045	0.0765	0.0088615	1370	154602	rs200730945	0.0046	0.0046	0.0024	0.0068	0.0733	0.0045	0.0044	0.0717	0.0711	0.0001	8.956e-05	0	7.566e-05	0	0.0028	3.328e-05	0.0048	0.0733	0.0024	0.0024	0.0010	0.0037	0.0732	0.0022	0.0021	0.0669	0.0644	4.813e-05	0	6.533e-05	0	0.0002	0	0	1.47e-05	0.0009	0.0732	0.002	0.78490	D	0.011	0.64786	D	0.997	0.70673	D	0.961	0.70482	D	0.000409	0.44736	D	0.000000	0.999976	0.53665	D	2.34	0.67151	M	2.19	0.18724	T	-1.18	0.30140	N	0.361	0.43126	-1.0946	0.04810	T	0.098	0.36651	T	10	0.0032061934	0.00054	T	.	.	.	0.251	0.56024	0.443	0.49975	.	.	0.5396994548846176	0.53894	0.500221979732	0.48442	0.627624154091	0.56808	T	0.169673	0.58592	T	-0.229002	0.16782	T	-0.0466498	0.67252	D	0.0447532322338824	0.04557	T	0.929307	0.74183	D	0.28043443	0.51090	0.305622	0.56588	0.28043443	0.51090	0.305622	0.56587	-10.927	0.79460	D	.	.	0.233	0.49490	B	.;.;.	.;.;.	3.857957	0.55934	23.7	0.99926237934331785	0.99103	0.94383	0.60991	D	AEFBCI	0.920021	0.89138	D	0.627506272716689	0.74919	6.215501	0.548809964980565	0.71315	5.63603	0.999999999997521	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	8.102000	0.89386	9.316000	0.80002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	0.0:0.0:1.0:0.0	18.277	0.90025	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.041667	0.1053	2378.43	34	chr15	81290495	.	G	A	2378.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.775;DP=738;ExcessHet=0.7564;FS=0.524;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.799;SOR=0.632	GT:AD:DP:GQ:PL	0/1:23,20:43:99:461,0,578	15	0	4	0
chr15	83263298	83263298	A	C	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001301206:exon4:c.T1932G:p.D644E,BNC1:NM_001717:exon4:c.T1953G:p.D651E	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00773668092244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.56	0.10245	T	0.0	0.02946	B	0.0	0.04355	B	0.608730	0.05688	N	1.184430	1	0.08975	N	0.98	0.24916	L	1.01	0.41058	T	-0.63	0.18459	N	0.03	0.00717	-1.0206	0.23519	T	0.054	0.22997	T	10	0.04920301	0.04477	T	0.007737	0.20536	T	0.010	0.01040	0.349	0.34598	0.260580752073	0.25663	0.08935120883379911	0.08868	0.130659878838	0.14740	0.245917484164	0.03350	T	0.090114	0.38517	T	-0.335711	0.05690	T	-0.720002	0.04795	T	0.0495572420104584	0.05421	T	0.468553	0.13811	T	0.04778721	0.08224	0.056196526	0.09996	0.04778721	0.08224	0.056196526	0.09995	-3.074	0.11000	T	.	.	0.083	0.15832	B	.;.	.;.	-0.541278	0.01739	0.130	0.81951421751535092	0.13943	0.03584	0.08802	N	AEFDGBI	0.096183	0.19421	N	-1.2375458345272	0.04466	0.2016325	-1.28229393467768	0.04670	0.2208073	0.99723864097727	0.35404	0.656854	0.48797	0	0.563428	0.19063	0	0.67347	0.61138	0	0.683762	0.67416	0	.	.	4.79	-5.73	0.02204	-0.438000	0.06975	-3.404000	0.02812	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.489000	0.28769	0.351:0.1824:0.4666:0.0	8.538	0.32538	430	0.80826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2195.33	35	chr15	83263298	.	A	C	2195.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.211;SOR=0.693	GT:AD:DP:GQ:PL	0/1:77,77:154:99:2209,0,2113	18	0	1	0
chr15	84016449	84016449	C	T	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon25:c.C4223T:p.T1408I,ADAMTSL3:NM_207517:exon25:c.C4223T:p.T1408I	.	.	.	.	.	.	.	.	.	.	.	3239569	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0397651238748	.	.	0.0001	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs745412244	3.01e-05	3.078e-05	1.089e-05	4.951e-05	0.0005	2.282e-05	2.032e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	1.315e-05	1.313e-05	0	2.692e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.087	0.32929	T	0.025	0.56640	D	0.029	0.24253	B	0.01	0.28435	B	0.025330	0.01628	N	2.725140	1	0.08975	N	0.345	0.11182	N	-0.14	0.65747	T	-0.7	0.19933	N	0.247	0.27910	-0.9366	0.43149	T	0.162	0.49764	T	10	0.05379498	0.05627	T	0.039765	0.58997	D	0.146	0.38789	0.472	0.54699	0.623866145753	0.62080	0.3870877217374099	0.38623	0.139443188356	0.15718	0.340171694756	0.16463	T	0.012443	0.10938	T	-0.465658	0.00906	T	-0.53907	0.18389	T	0.0636053095808928	0.07723	T	0.454355	0.12956	T	0.065989316	0.14156	0.08347292	0.19130	0.065989316	0.14155	0.08347292	0.19130	-4.318	0.28761	T	.	.	0.111	0.25882	B	.;.	.;.	1.667006	0.21255	15.12	0.96533438694862506	0.30162	0.10202	0.15773	N	AEFI	0.084018	0.17025	N	-0.738346724431315	0.14952	0.7492764	-0.696866575477938	0.17039	0.9041889	0.280169049038723	0.18980	0.581397	0.33459	0	0.588015	0.36545	0	0.565031	0.19037	0	0.564101	0.26826	0	.	.	4.5	4.5	0.54382	1.880000	0.39263	2.092000	0.30554	-0.176000	0.10722	0.006000	0.17386	0.008000	0.19753	0.083000	0.17415	0.0:1.0:0.0:0.0	12.721	0.56513	635	0.64580	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1278.33	33	chr15	84016449	.	C	T	1278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.553;DP=742;ExcessHet=0;FS=3.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=1.04;SOR=0.459	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1292,0,1722	18	0	1	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	2926.4	322	chr15	84512452	.	C	*	2926.4	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.459;DP=2460;ExcessHet=4.0268;FS=3.021;InbreedingCoeff=-0.2881;MLEAC=5;MLEAF=0.139;MQ=45.99;MQRankSum=-0.666;QD=1.84;ReadPosRankSum=2.54;SOR=0.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,32:119:99:.:.:748,0,3063:.	13	0	5	1
chr15	89215166	89215166	A	G	exonic	RLBP1	.	nonsynonymous SNV	RLBP1:NM_000326:exon6:c.T419C:p.I140T	Bothnia retinal dystrophy, Autosomal recessive;Fundus albipunctatus, Autosomal recessive, Autosomal dominant;Newfoundland rod-cone dystrophy;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	4065336	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.606	0.0883798576376	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750679782	7.525e-06	8.209e-06	8.168e-06	6.876e-06	1.159e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	0	1.159e-05	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.004	0.65419	D	0.008	0.67890	D	0.243	0.30970	B	0.226	0.38054	B	0.000002	0.62929	D	0.100695	1	0.81001	D	1.845	0.48678	L	-1.08	0.77078	T	-2.68	0.57275	D	0.822	0.81758	-0.2954	0.75113	T	0.397	0.74937	T	10	0.83742744	0.82898	D	0.08838	0.75122	D	0.606	0.84506	0.651	0.78858	0.731511515365	0.72912	0.739925090530092	0.73937	0.65005057927	0.58299	0.374092876911	0.21417	T	0.700515	0.91373	D	0.0545056	0.58921	T	0.00964532	0.70960	D	0.95399135351181	0.64158	D	0.936706	0.76258	D	0.7025308	0.78195	0.5580631	0.74434	0.7025308	0.78196	0.5580631	0.74435	-7.926	0.60565	D	0.30109292997060644	0.39844	0.499	0.64527	A	.	.	4.805614	0.78123	26.8	0.9958487569081852	0.73218	0.98903	0.88402	D	AEFDBI	0.877683	0.80247	D	0.199714265158883	0.51184	3.301878	0.30640897116836	0.55916	3.754453	0.999995973400248	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	4.95	4.95	0.64894	8.685000	0.90972	11.085000	0.85821	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.930000	0.46718	1.0:0.0:0.0:0.0	14.620	0.68174	934	0.15400	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1244.33	34	chr15	89215166	.	A	G	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.076;SOR=0.751	GT:AD:DP:GQ:PL	0/1:94,52:146:99:1258,0,2391	18	0	1	0
chr15	89633777	89633777	T	C	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon12:c.A2501G:p.Q834R	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	0	1499	22	1	0	24	0.00794176	.	.	YES	247107	not_specified|Acrocallosal_syndrome|Nephronophthisis|not_provided	MedGen:CN169374|MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.245	0.08900442336	0.0024	0.000998403	0.0033	0.0007	0.0024	0	0.0014	0.0041	0.0023	0.0046	0.0031371	485	154602	rs138354681	0.0047	0.0047	0.0047	0.0046	0.0053	0.0046	0.0045	0.0052	0.0051	0.0007	0.0021	0.0032	0	0.0012	0.0031	0.0053	0.0053	0.0037	0.0030	0.0030	0.0035	0.0025	0.0056	0.0028	0.0027	0.0051	0.0049	0.0006	0	0.0009	0.0023	0.0004	0.0007	0.0068	0.0056	0.0028	0.0031	0.034	0.44029	D	0.239	0.24477	T	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	0.82	0.48142	T	-3.38	0.66780	D	0.668	0.67650	-0.5827	0.65510	T	0.286	0.65792	T	10	0.020664513	0.00480	T	0.089004	0.75242	D	0.245	0.55201	.	.	0.585504228005	0.58223	0.42016603571	0.41932	0.152034226705	0.17156	0.636750817299	0.58103	T	0.706374	0.91588	D	-0.358978	0.04188	T	-0.284837	0.46306	T	0.00380415575136937	0.00040	T	0.789921	0.43036	T	0.6410829	0.74889	0.47864857	0.69800	0.6410829	0.74890	0.47864857	0.69801	-10.856	0.78862	D	0.6778041764939509	0.75377	0.265	0.49988	B	.	.	4.026663	0.59515	24.1	0.99686958177224039	0.79641	0.92267	0.55320	D	AEFBHCI	0.909507	0.86623	D	0.702533064691778	0.79797	7.154563	0.67204728082149	0.80263	7.259984	0.999999999107258	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.12	5.12	0.69459	7.944000	0.87202	6.122000	0.53799	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.894	0.70271	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.012195	0.011364	0.02632	1212.33	39	chr15	89633777	.	T	C	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.956;DP=755;ExcessHet=0;FS=9.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.924;SOR=1.656	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1226,0,1372	18	0	1	0
chr15	89733016	89733016	-	G	exonic	WDR93	.	frameshift insertion	WDR93:NM_020212:exon13:c.1342dupG:p.V449Gfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	423.29	31	chr15	89733016	.	T	TG	423.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=625;ExcessHet=0;FS=1.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.425;SOR=1.061	GT:AD:DP:GQ:PL	0/1:22,17:39:99:437,0,592	18	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,21:50:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:2145,1166,1095:89776889	8	2	9	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:50:99:1|1:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1386,103,0:89776889	1	15	1	2
chr15	90225321	90225321	G	A	exonic	SEMA4B	.	nonsynonymous SNV	SEMA4B:NM_001324029:exon10:c.G1031A:p.R344Q,SEMA4B:NM_001324030:exon11:c.G977A:p.R326Q,SEMA4B:NM_001324032:exon11:c.G1445A:p.R482Q,SEMA4B:NM_001324034:exon11:c.G1445A:p.R482Q,SEMA4B:NM_198925:exon11:c.G1445A:p.R482Q,SEMA4B:NM_001324031:exon12:c.G1604A:p.R535Q,SEMA4B:NM_001324033:exon12:c.G977A:p.R326Q,SEMA4B:NM_020210:exon12:c.G1445A:p.R482Q	.	430	1091	1	0	0	1	0.000458085	.	.	.	2336523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.00761419682404	8e-05	0.000199681	0.0004	0	0	0	0	0.0009	0	0.0001	0.00011	17	154602	rs199675454	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	3.123e-05	2.744e-05	0.0006	0	0	0	0.0002	8.577e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	7.218e-05	0	0.0001	0.0009	0.0002	0	0	0.0002	0.0009	0.0002	0.449	0.09022	T	0.48	0.11899	T	.	.	.	.	.	.	0.988364	0.08047	N	0.991862	1	0.08975	N	.	.	.	1.58	0.29085	T	-0.21	0.10308	N	0.113	0.10056	-1.0197	0.23812	T	0.035	0.15030	T	10	0.009755969	0.00219	T	0.007614	0.20192	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.23644852402465752	0.23559	0.271436993991	0.29665	0.229855895042	0.01957	T	0.002417	0.01807	T	-0.475043	0.00791	T	-0.623951	0.10878	T	0.0117027033120674	0.00179	T	0.839416	0.51368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02639	B	.;.	.;.	1.008094	0.13867	10.42	0.88795161504369402	0.18262	0.12602	0.17368	N	AEFDBCI	0.064849	0.12615	N	-1.30386563124327	0.03631	0.1625291	-1.36788052541032	0.03599	0.1682367	0.999993026936802	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.37	-4.09	0.03685	-0.014000	0.12594	0.138000	0.15134	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.098000	0.18187	0.5068:0.1118:0.2673:0.114	3.467	0.07120	579	0.69780	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema 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	0.001014	0.000000	0.001370	0.002994	0.000000	0.000000	0.000000	0.000000	0.02632	630.33	39	chr15	90225321	.	G	A	630.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.71;DP=823;ExcessHet=0;FS=9.094;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=1.2;SOR=1.322	GT:AD:DP:GQ:PL	0/1:44,23:67:99:644,0,1153	18	0	1	0
chr15	90360750	90360750	A	G	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon4:c.A919G:p.I307V	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00367150201203	0.0035	0.00179712	0.0041	0.0013	0.0017	0	0.0035	0.0052	0.0078	0.0052	0.0038421	594	154602	rs150500921	0.0047	0.0047	0.0045	0.0048	0.0059	0.0046	0.0045	0.0048	0.0047	0.0008	0.0017	0.0107	5.038e-05	0.0043	0.0059	0.0049	0.0050	0.0051	0.0032	0.0032	0.0035	0.0028	0.0049	0.0029	0.0029	0.0045	0.0043	0.0013	0	0.0016	0.0078	0	0.0026	0	0.0049	0.0033	0.0017	0.171	0.22746	T	0.385	0.15746	T	0.0	0.02946	B	0.002	0.06944	B	0.680832	0.10260	N	0.778107	1	0.08975	N	-1.03	0.01126	N	2.02	0.21119	T	-0.29	0.11728	N	0.014	0.00160	-0.9614	0.38916	T	0.016	0.06711	T	10	0.0029374063	0.00047	T	0.003672	0.08464	T	0.027	0.05988	.	.	0.186928172975	0.18263	0.020037791574456967	0.01956	0.0372404759166	0.03946	0.315446823835	0.12731	T	0.002856	0.02248	T	-0.682725	0.00046	T	-0.750435	0.03468	T	0.00263947290263791	0.00028	T	0.362364	0.08382	T	0.03160436	0.03031	0.034833886	0.02622	0.03160436	0.03031	0.034833886	0.02621	-4.155	0.26097	T	.	.	0.174	0.38117	B	.	.	1.261285	0.16590	12.64	0.77924712142657915	0.12081	0.18813	0.20413	N	AEFDBCI	0.099355	0.20002	N	-1.13139518893426	0.06091	0.2794934	-1.1449639417494	0.06859	0.3315951	0.197770893749221	0.18083	0.651	0.46895	0	0.601575	0.49859	0	0.608075	0.38828	0	0.683762	0.67416	0	.	.	5.64	-5.16	0.02640	1.008000	0.29475	-0.611000	0.08222	0.731000	0.85647	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.1853:0.395:0.4197:0.0	7.812	0.28399	889	0.27310	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.008152	0.002924	0.000000	0.008621	0.015244	0.000000	0.02632	1879.33	39	chr15	90360750	.	A	G	1879.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=825;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-1.099;SOR=0.76	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1893,0,1703	18	0	1	0
chr15	93206248	93206248	T	C	exonic	LOC105370980	.	nonsynonymous SNV	LOC105370980:NM_001365393:exon1:c.T55C:p.C19R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000856831225229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	35.4	.	chr15	93206248	.	T	C	35.4	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:33:40,0,33	8	0	1	10
chr15	101818248	101818248	G	A	exonic	OR4F15	.	nonsynonymous SNV	OR4F15:NM_001001674:exon1:c.G62A:p.R21Q	.	427	1071	24	0	0	24	0.0110803	.	.	.	2814542	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.00118040570934	0.0038	0.00219649	0.0034	0.0011	0.0042	0	0	0.0049	0.0066	0.0011	0.0032988	510	154602	rs142759394	0.0040	0.0040	0.0039	0.0040	0.0299	0.0039	0.0039	0.0262	0.0248	0.0018	0.0037	0.0089	0	9.362e-05	0.0299	0.0043	0.0052	0.0016	0.0036	0.0036	0.0038	0.0033	0.0050	0.0033	0.0032	0.0046	0.0044	0.0009	0.0505	0.0038	0.0118	0.0002	0	0.0170	0.0050	0.0057	0.0012	0.138	0.25873	T	0.576	0.08624	T	0.0	0.02946	B	0.001	0.04355	B	0.005063	0.33125	N	0.142349	0.999846	0.20103	N	-0.02	0.05091	N	7.43	0.00400	T	0.12	0.05604	N	0.174	0.18649	-0.9777	0.35526	T	0.001	0.00188	T	9	0.004750639	0.00100	T	0.00118	0.01509	T	0.125	0.34456	.	.	0.312306559268	0.30836	0.03231988802055784	0.03179	0.0109991440386	0.01025	0.254744470119	0.04284	T	9.58E-4	0.00501	T	-0.663891	0.00060	T	-0.724075	0.04602	T	0.00514198221419872	0.00056	T	0.19598	0.02159	T	0.045161884	0.07345	0.053965233	0.09194	0.045161884	0.07345	0.053965233	0.09193	-4.165	0.26243	T	.	.	0.082	0.08560	B	.	.	2.526806	0.32665	19.11	0.96641249970911136	0.30553	0.10355	0.15885	N	AEFDI	0.090418	0.18322	N	-0.71013839095938	0.15736	0.7956623	-0.617059161293788	0.19054	1.020685	0.00128944191395503	0.08410	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	4.36	0.51643	-0.476000	0.06671	1.109000	0.24140	-0.108000	0.15293	0.000000	0.06391	0.028000	0.21151	0.088000	0.17685	0.0:0.1664:0.6611:0.1725	8.698	0.33471	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	0	0	1	0	0.022659	0.000000	0.027174	0.064327	0.000000	0.017241	0.009146	0.007576	0.05263	4004.83	34	chr15	101818248	.	G	A	4004.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.3;DP=879;ExcessHet=0.119;FS=0.9;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.603;SOR=0.614	GT:AD:DP:GQ:PL	0/1:81,75:156:99:2017,0,1989	17	0	2	0
chr16	176809	176813	GAGGT	-	exonic	HBA1	.	nonframeshift deletion	HBA1:NM_000558:exon1:c.93_95del:p.R32del	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	6	1502	14	0	0	14	0.00463883	.	.	.	1038385	Erythrocytosis,_familial,_7|not_provided|alpha_Thalassemia	MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181505507	3.39e-05	8.965e-05	2.577e-05	4.215e-05	0.0035	2.612e-05	2.341e-05	0.0021	0.0017	0	0.0001	0	0	0	0.0035	1.599e-05	0.0001	3.722e-05	2.757e-05	3.959e-05	2.682e-05	2.837e-05	6.764e-05	8.44e-06	5.34e-06	1.211e-05	6.36e-06	0	0	6.764e-05	0	0	0	0	4.563e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	352.79	22	chr16	176808	.	AGAGGT	A	352.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.077;DP=713;ExcessHet=0.119;FS=4.108;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=31.9;MQRankSum=0.103;QD=3.3;ReadPosRankSum=0.553;SOR=1.257	GT:AD:DP:GQ:PL	0/1:47,7:54:99:148,0,1923	17	0	2	0
chr16	717164	717164	C	T	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon4:c.C659T:p.P220L	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00226248385481	0.0014	0.00119808	0.0014	0.0041	0.0005	0	0	0.0003	0	0.0058	0.0008473	131	154602	rs150417120	0.0006	0.0006	0.0004	0.0007	0.0052	0.0005	0.0005	0.0048	0.0047	0.0042	0.0003	0	2.543e-05	0	0.0030	0.0001	0.0007	0.0052	0.0014	0.0014	0.0013	0.0015	0.0052	0.0012	0.0012	0.0036	0.0031	0.0037	0	0.0003	0	0	0	0.0170	0.0003	0.0009	0.0052	0.696	0.04226	T	0.684	0.23984	T	0.0	0.02946	B	0.0	0.01387	B	0.046368	0.23446	N	0.420026	1	0.08975	N	-1.95	0.00216	N	1.71	0.26737	T	1.45	0.00835	N	0.044	0.12770	-0.9802	0.34955	T	0.017	0.06759	T	9	0.0034618378	0.00061	T	0.002262	0.04314	T	.	.	.	.	0.0551355673512	0.04727	0.40429874683861805	0.40345	0.264844217052	0.29036	0.344975709915	0.17180	T	0.003143	0.02546	T	-0.579012	0.00195	T	-0.603534	0.12516	T	0.00177680713760877	0.00018	T	0.60384	0.22664	T	0.021980561	0.00832	0.024941843	0.00524	0.021980561	0.00832	0.024941843	0.00524	-3.034	0.10552	T	.	.	0.051	0.00259	B	.;.	.;.	0.377872	0.07500	4.142	0.79010860548426631	0.12550	0.00887	0.03492	N	AEFGBHCI	0.086726	0.17585	N	-1.48553118158024	0.01952	0.08568558	-1.39632914982578	0.03291	0.1532207	0.999998413834424	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.493711	0.08198	1	0.699875	0.68795	0	.	.	4.94	1.36	0.21139	1.467000	0.34930	-0.273000	0.10332	-0.131000	0.13161	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.2552:0.161:0.5838	4.444	0.11009	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	0	0	0.008603	0.000000	0.009537	0.005952	0.000000	0.008621	0.000000	0.018939	0.05263	5135.83	35	chr16	717164	.	C	T	5135.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.26;DP=1069;ExcessHet=0.119;FS=5.726;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.34;SOR=0.59	GT:AD:DP:GQ:PL	0/1:88,99:187:99:2742,0,2216	17	0	2	0
chr16	722680	722680	A	C	exonic	CCDC78	.	stoploss	CCDC78:NM_001378033:exon10:c.T844G:p.X282E,CCDC78:NM_001378031:exon12:c.T1231G:p.X411E,CCDC78:NM_001378030:exon14:c.T1411G:p.X471E	Myopathy, centronuclear, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.684e-06	0	0	0	0	0	0	6.16e-05	6.5e-06	1	154602	rs775622579	4.816e-06	4.788e-06	2.739e-06	6.912e-06	6.959e-05	2e-06	1.29e-06	2.996e-05	2.038e-05	0	0	0	0	0	0	8.995e-07	0	6.959e-05	1.315e-05	1.313e-05	0	2.69e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1277.33	38	chr16	722680	.	A	C	1277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.203;DP=886;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-1.479;SOR=0.695	GT:AD:DP:GQ:PL	0/1:42,45:87:99:1291,0,1237	18	0	1	0
chr16	728857	728857	T	C	exonic	HAGHL	.	nonsynonymous SNV	HAGHL:NM_032304:exon6:c.T562C:p.C188R,HAGHL:NM_001290137:exon7:c.T562C:p.C188R,HAGHL:NM_001290139:exon7:c.T562C:p.C188R,HAGHL:NM_001323635:exon7:c.T562C:p.C188R,HAGHL:NM_001323636:exon7:c.T562C:p.C188R,HAGHL:NM_001365282:exon7:c.T562C:p.C188R	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0773881215239	0.0002	0.000998403	0.0009	0	0.0003	0	0	0.0003	0	0.0048	0.0006274	97	154602	rs149082510	0.0005	0.0004	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0046	3.034e-05	0.0003	0	0	0	0.0026	0.0001	0.0005	0.0052	0.0004	0.0004	0.0003	0.0005	0.0055	0.0003	0.0003	0.0038	0.0033	0	0	0.0001	0	0.0002	0	0.0176	0.0003	0.0010	0.0055	0.52	0.22312	T	0.531	0.21478	T	0.011	0.32608	B	0.003	0.24975	B	0.949066	0.07644	N	1.023790	0.999996	0.08975	N	0.345	0.11182	N	-3.65	0.95179	D	-0.35	0.15578	N	0.046	0.06322	-0.4036	0.71914	T	0.519	0.82009	D	10	0.011203229	0.00246	T	0.077388	0.72759	D	0.188	0.46444	.	.	0.33110744837	0.32714	0.3462574308157688	0.34539	0.342726518813	0.36201	0.48286563158	0.36451	T	0.014856	0.14410	T	-0.287706	0.09868	T	-0.185231	0.56036	T	0.012360876234623	0.00202	T	0.218178	0.02774	T	0.16949926	0.37469	0.08519172	0.19652	0.16949926	0.37469	0.08519172	0.19651	-4.033	0.24296	T	.	.	0.118	0.24226	B	.;.;.;.	.;.;.;.	0.945708	0.13218	9.717	0.628519671272458	0.07069	0.21238	0.21331	N	AEFDGBHCI	0.313896	0.41892	N	-1.15548025119938	0.05690	0.2600612	-1.23826192218242	0.05307	0.252553	0.999999999998732	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.74	-5.67	0.02247	0.184000	0.16748	-5.007000	0.01889	-0.157000	0.11712	0.014000	0.18986	0.000000	0.08366	0.825000	0.38878	0.3067:0.1819:0.3362:0.1753	0.782	0.00976	658	0.62094	.;.;Hydroxyacylglutathione hydrolase, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.005435	0.005882	0.000000	0.017241	0.000000	0.018939	0.05263	2385.83	36	chr16	728857	.	T	C	2385.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.341;DP=1057;ExcessHet=0.119;FS=1.945;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=2.53;SOR=0.525	GT:AD:DP:GQ:PL	0/1:33,39:72:99:973,0,873	17	0	2	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,30:30:96:.:.:1140,96,0:.	4	5	5	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	667.98	41	chr16	1397281	.	G	*	667.98	.	AC=13;AF=0.382;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=14;MLEAF=0.412;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,30:30:96:.:.:1140,96,0:.	9	5	3	2
chr16	2975631	2975631	G	A	exonic	PKMYT1	.	nonsynonymous SNV	PKMYT1:NM_001258450:exon4:c.C353T:p.T118M,PKMYT1:NM_001258451:exon4:c.C533T:p.T178M,PKMYT1:NM_004203:exon4:c.C560T:p.T187M,PKMYT1:NM_182687:exon4:c.C560T:p.T187M	.	.	.	.	.	.	.	.	.	.	.	2395851	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0239510017493	7.7e-05	.	0.0002	0.0001	0	0	0	0.0002	0	0.0007	0.0001488	23	154602	rs372008941	9.046e-05	9.029e-05	7.501e-05	0.0001	0.0008	7.77e-05	7.312e-05	0.0006	0.0006	5.975e-05	2.238e-05	0.0011	2.52e-05	1.951e-05	0	2.159e-05	0.0001	0.0008	5.913e-05	5.91e-05	3.853e-05	8.071e-05	0.0006	3.077e-05	2.21e-05	0.0002	8.985e-05	7.236e-05	0	0	0.0006	0	0	0	1.47e-05	0	0.0006	0.253	0.48642	T	0.153	0.32144	T	0.841	0.46518	P	0.454	0.46241	P	0.000000	0.84330	N	0.051887	1	0.81001	D	-0.165	0.04321	N	2.13	0.19588	T	-2.49	0.54217	N	0.394	0.44090	-0.9683	0.37551	T	0.023	0.09696	T	10	0.12389496	0.23525	T	0.023951	0.46930	T	0.247	0.55478	.	.	0.341886373756	0.33793	0.5413095229209642	0.54055	0.0937441794456	0.10591	0.65276825428	0.60378	T	0.063398	0.32166	T	-0.341045	0.05316	T	-0.36687	0.37255	T	0.0637930780649185	0.07751	T	0.882012	0.65873	D	0.45682347	0.64473	0.31169885	0.57175	0.45682347	0.64474	0.31169885	0.57174	-2.413	0.07821	T	.	.	0.056	0.22318	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.032649	0.59644	24.1	0.99699369795675441	0.80522	0.97647	0.76137	D	AEFBHCI	0.832371	0.75076	D	-0.102180521730957	0.37297	2.167945	0.0456539252620061	0.41862	2.522139	0.999999905378718	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	3.86	0.43689	3.009000	0.49239	8.617000	0.77794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1542:0.0:0.8458:0.0	10.786	0.45608	851	0.35303	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1781.33	34	chr16	2975631	.	G	A	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.1;DP=766;ExcessHet=0;FS=1.404;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.154;SOR=0.555	GT:AD:DP:GQ:PL	0/1:65,62:127:99:1795,0,1658	18	0	1	0
chr16	3655478	3655478	G	C	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon2:c.G105C:p.E35D,DNASE1:NM_001351825:exon3:c.G105C:p.E35D	.	409	1101	11	1	0	13	0.00586907	.	.	.	2811000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00420915607097	0.0043	0.00179712	0.0040	0.0011	0.0024	0	0.0077	0.0057	0.0066	0.0002	0.0039391	609	154602	rs34907394	0.0048	0.0048	0.0048	0.0048	0.0094	0.0047	0.0047	0.0074	0.0067	0.0007	0.0030	0.0031	0	0.0066	0.0094	0.0054	0.0039	0.0007	0.0036	0.0036	0.0033	0.0039	0.0054	0.0033	0.0032	0.0050	0.0048	0.0007	0	0.0037	0.0020	0	0.0062	0.0068	0.0054	0.0057	0.0004	0.719	0.03937	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.001348	0.39310	N	0.284400	1	0.81001	D	1.63	0.41750	L	0.32	0.58468	T	1.59	0.00660	N	0.156	0.16168	-1.0771	0.07922	T	0.057	0.23904	T	10	0.0064407587	0.00146	T	0.004209	0.10153	T	0.020	0.03691	0.37	0.38013	0.421550847248	0.41774	0.6230731396441008	0.62240	0.00669680874539	0.00592	0.41994330287	0.27828	T	0.070235	0.33909	T	-0.520298	0.00438	T	-0.51712	0.20587	T	0.00266594604911538	0.00028	T	0.728927	0.34400	T	0.25621912	0.48660	0.0993211	0.23709	0.25621912	0.48660	0.0993211	0.23708	-3.947	0.23008	T	.	.	0.163	0.35972	B	.;.	.;.	1.060269	0.14419	10.99	0.89907885940127696	0.19208	0.44793	0.27396	N	AEFBCI	0.113087	0.22328	N	-0.784045462461887	0.13725	0.6782469	-0.608971251152748	0.19262	1.032697	0.999670807394452	0.41644	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.491896	0.07777	0	.	.	5.39	2.35	0.28166	0.603000	0.23848	.	.	-0.113000	0.14837	0.978000	0.35038	0.966000	0.29516	0.993000	0.69303	0.1622:0.1532:0.5448:0.1399	2.783	0.05036	596	0.68392	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.008152	0.014620	0.000000	0.017241	0.003049	0.003788	0.02632	1359.33	37	chr16	3655478	.	G	C	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.831;DP=790;ExcessHet=0;FS=1.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.349;SOR=0.682	GT:AD:DP:GQ:PL	0/1:90,60:150:99:1373,0,2546	18	0	1	0
chr16	3736720	3736720	T	G	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon26:c.A4376C:p.K1459T,CREBBP:NM_004380:exon27:c.A4490C:p.K1497T	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	2223546	Inborn_genetic_diseases|Menke-Hennekam_syndrome_1|Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.852	0.402387205441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0048	0.0006	0.0005	0.0015	0.0005	0.0005	0.0011	0.0010	0.0009	0.0004	0.0014	0.0015	0.0018	0.0002	0.0005	0.0011	8.218e-05	3.322e-05	8.609e-05	3.901e-05	2.716e-05	0.0005	1.271e-05	8.06e-06	7.985e-05	3.25e-05	0	0	0	0	0.0002	9.513e-05	0	1.477e-05	0	0.0005	0.018	0.51248	D	0.0	0.92824	D	0.998	0.73220	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	-3.31	0.93835	D	-5.89	0.88767	D	0.774	0.79310	0.936	0.96186	D	0.881	0.96055	D	10	0.8244804	0.81634	D	0.402387	0.93425	D	0.852	0.95433	0.502	0.59460	0.88102873976	0.87986	0.8031326376739203	0.80267	1.33416477849	0.83706	0.81824016571	0.84758	D	0.941671	0.99090	D	0.293921	0.82476	D	0.184421	0.82251	D	0.988415530172368	0.78748	D	0.99514	0.98349	D	0.6487428	0.75297	0.48649183	0.70280	0.6487428	0.75298	0.48649183	0.70281	-13.189	0.90181	D	0.765752437049642	0.84716	0.996	0.95940	P	.;.;.	.;.;.	4.537874	0.71295	25.7	0.9969757526764419	0.80385	0.98887	0.88185	D	AEFDBI	0.896874	0.83841	D	0.787441166634837	0.85314	8.539081	0.750870866651438	0.86223	8.820769	0.999999999620899	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	8.017000	0.88732	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	14.631	0.68256	654	0.62520	CBP/p300-type histone acetyltransferase domain;.;CBP/p300-type histone acetyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	82.33	33	chr16	3736720	.	T	G	82.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.086;DP=708;ExcessHet=0;FS=63.611;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=-0.16;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,17:83:96:0|1:3736720_T_G:96,0,1932:3736720	18	0	1	0
chr16	3736725	3736725	C	G	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon26:c.G4371C:p.K1457N,CREBBP:NM_004380:exon27:c.G4485C:p.K1495N	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	2388756	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.750	0.348746700932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0014	0.0001	0.0001	0.0002	9.3e-05	8.795e-05	0.0001	9.371e-05	0.0002	0.0002	0.0001	0.0002	0.0006	0	7.603e-05	0.0003	1.164e-05	0	6.579e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.028	0.46513	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	-3.3	0.93787	D	-4.91	0.81595	D	0.68	0.88356	0.757	0.93877	D	0.865	0.95496	D	10	0.65886843	0.70035	D	0.348747	0.92212	D	0.750	0.91413	0.584	0.71118	0.935661721839	0.93499	0.9058734370874284	0.90560	1.31223328857	0.83247	0.877997159958	0.93689	D	0.936981	0.98979	D	0.132857	0.67639	D	-0.046937	0.67232	D	0.99296098947525	0.83594	D	0.979202	0.92760	D	0.5678694	0.70943	0.43889403	0.67259	0.5678694	0.70945	0.43889403	0.67260	-12.049	0.85113	D	0.6938746881198967	0.77197	0.999	0.98765	P	.;.;.	.;.;.	3.168536	0.42956	21.6	0.99094066451566232	0.52296	0.88851	0.48981	D	AEFDBI	0.323100	0.42539	N	0.111265621051855	0.46987	2.930917	-0.00330821848894216	0.39566	2.347903	0.928342889356981	0.26925	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.25	0.243	0.14763	0.034000	0.13663	.	.	-0.181000	0.10308	0.878000	0.30948	0.996000	0.32793	0.937000	0.47636	0.0:0.5973:0.0:0.4027	11.955	0.52263	654	0.62520	CBP/p300-type histone acetyltransferase domain;.;CBP/p300-type histone acetyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	192.33	33	chr16	3736725	.	C	G	192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.416;DP=706;ExcessHet=0;FS=83.469;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=0.361;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,20:80:99:0|1:3736720_T_G:206,0,1752:3736720	18	0	1	0
chr16	11384311	11384311	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon64:c.C9598T:p.L3200F	.	886	626	8	2	0	12	0.00949367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0026	0	0.0106	0	0	0.0033	0	0	0.0002652	41	154602	rs533015028	0.0010	0.0008	0.0010	0.0010	0.0116	0.0009	0.0009	0.0086	0.0075	0.0002	0.0026	0.0073	0	0	0.0116	0.0007	0.0019	0.0071	0.0012	0.0012	0.0010	0.0013	0.0091	0.0010	0.0010	0.0070	0.0062	0.0002	0	0.0010	0.0081	0	0	0.0136	0.0010	0.0028	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008353472	0.00189	T	.	.	.	.	.	.	.	0.240491677333	0.23641	.	.	.	.	.	.	.	.	.	.	-0.369615	0.03613	T	-0.354144	0.38730	T	.	.	.	0.492351	0.15167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.51772	B	.	.	2.578696	0.33431	19.34	0.99597580469521685	0.73983	0.41198	0.26604	N	AEFDBI	0.081172	0.16422	N	.	.	.	.	.	.	0.998383975066426	0.36869	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	3.91	0.528	0.16282	2.444000	0.44549	1.159000	0.24539	0.618000	0.50648	1.000000	0.71638	0.197000	0.23541	0.106000	0.18562	0.2496:0.0:0.5113:0.2391	2.817	0.05124	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	.	.	.	.	.	.	.	.	0.02632	766.33	41	chr16	11384311	.	G	A	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.76;SOR=0.719	GT:AD:DP:GQ:PL	0/1:40,30:70:99:780,0,1104	18	0	1	0
chr16	17158871	17158871	C	T	exonic	XYLT1	.	nonsynonymous SNV	XYLT1:NM_022166:exon6:c.G1328A:p.R443Q	Desbuquois dysplasia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0544793944826	0.0002	.	2.471e-05	9.61e-05	0	0	0	1.499e-05	0.0011	0	1.94e-05	3	154602	rs146405799	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	2.987e-05	6.708e-05	0	0.0001	0	0	0.0001	6.623e-05	4.637e-05	3.288e-05	3.284e-05	2.57e-05	4.04e-05	7.351e-05	1.262e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.015	0.52492	D	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.255	0.64187	M	2.79	0.11189	T	-3.75	0.71157	D	0.554	0.57946	-0.8282	0.53416	T	0.123	0.42462	T	10	0.5620652	0.64843	D	0.054479	0.65870	D	0.304	0.62510	.	.	0.165150595986	0.16160	0.774030310542611	0.77353	0.527487013363	0.50356	0.746685743332	0.73957	T	0.176258	0.52613	T	-0.213122	0.18942	T	-0.352229	0.38951	T	0.913739383220673	0.57011	D	.	.	.	0.73744905	0.80146	0.5053002	0.71407	0.73744905	0.80148	0.5053002	0.71407	-10.514	0.76927	D	.	.	0.100	0.17103	B	.	.	5.544596	0.91997	32	0.99957484154859799	0.99986	0.91369	0.53395	D	AEFBHCI	0.683173	0.64594	D	0.826377898203831	0.87726	9.318581	0.746857284605998	0.85922	8.727303	0.99999999999878	0.74766	0.615465	0.37627	0	0.68618	0.66647	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	3.899000	0.56000	7.604000	0.61663	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.417	0.87396	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1176.33	34	chr16	17158871	.	C	T	1176.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.912;DP=714;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.09;SOR=0.794	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1190,0,908	18	0	1	0
chr16	23757208	23757208	G	A	exonic	CHP2	.	nonsynonymous SNV	CHP2:NM_022097:exon6:c.G422A:p.R141H	.	424	1085	9	4	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00796955258838	0.0008	0.000399361	0.0013	0.0005	0.0012	0	0	0.0014	0.0022	0.0025	0.0011902	184	154602	rs112597134	0.0010	0.0010	0.0010	0.0011	0.0054	0.0010	0.0010	0.0039	0.0034	0.0004	0.0008	0.0095	0.0002	0.0001	0.0054	0.0008	0.0018	0.0027	0.0008	0.0008	0.0008	0.0008	0.0031	0.0007	0.0007	0.0019	0.0016	0.0002	0	0.0007	0.0087	0	0.0002	0.0068	0.0008	0.0033	0.0031	0.423	0.09746	T	0.367	0.16619	T	0.693	0.41684	P	0.097	0.30390	B	0.001397	0.39175	N	0.166426	0.999803	0.49283	D	1.88	0.49984	L	1.5	0.31205	T	-1.07	0.27876	N	0.836	0.83167	-1.0683	0.09791	T	0.066	0.27156	T	10	0.021376401	0.00510	T	0.00797	0.21136	T	0.114	0.32008	.	.	0.391000631824	0.38715	0.45384545533691345	0.45302	0.807526858809	0.66562	0.610252976418	0.54351	T	0.061301	0.31617	T	-0.4159	0.01817	T	-0.374803	0.36327	T	0.050442188358597	0.05577	T	0.956704	0.83523	D	0.18809146	0.40293	0.12120684	0.29247	0.18809146	0.40293	0.12120684	0.29246	-4.195	0.26679	T	.	.	0.127	0.26855	B	.	.	4.846618	0.79174	27.1	0.99903631853452857	0.97502	0.95828	0.66327	D	AEFDBI	0.887967	0.82066	D	0.33930929480666	0.58177	3.988564	0.409882426246787	0.62180	4.429136	0.998613265812217	0.37309	0.549168	0.22868	0	0.627178	0.54094	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	5.21	4.26	0.49832	9.469000	0.96838	10.552000	0.83426	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0838:0.0:0.9162:0.0	12.0	0.52516	872	0.31118	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.05263	1568.83	46	chr16	23757208	.	G	A	1568.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.12;DP=807;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.806;SOR=0.736	GT:AD:DP:GQ:PL	0/1:36,27:63:99:599,0,933	17	0	2	0
chr16	24816903	24816903	A	G	exonic	TNRC6A	.	nonsynonymous SNV	TNRC6A:NM_001330520:exon19:c.A4772G:p.N1591S,TNRC6A:NM_001351850:exon19:c.A4799G:p.N1600S,TNRC6A:NM_014494:exon20:c.A4919G:p.N1640S	.	424	1078	18	2	0	22	0.010101	.	.	.	2807752	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.060	.	0.0003	0.00419329	0.0022	0	0.0009	0	0	0.0007	0	0.0130	0.0020246	313	154602	rs151084118	0.0011	0.0011	0.0007	0.0016	0.0134	0.0011	0.0011	0.0128	0.0125	0	0.0004	0.0012	5.038e-05	5.616e-05	0.0029	0.0003	0.0014	0.0134	0.0007	0.0007	0.0004	0.0010	0.0137	0.0006	0.0005	0.0110	0.0101	2.406e-05	0	6.533e-05	0.0012	0.0002	0	0	0.0005	0	0.0137	0.343	0.20456	T	0.434	0.14158	T	0.154	0.28120	B	0.085	0.29395	B	0.000027	0.55875	N	0.152552	0.992792	0.41745	D	0.805	0.20218	L	3.2	0.20523	T	-0.87	0.23808	N	0.338	0.37923	-0.9702	0.37157	T	0.010	0.03492	T	10	0.0048859715	0.00104	T	.	.	.	0.060	0.17295	.	.	0.362933182269	0.35899	0.40766964819661555	0.40682	0.430382981089	0.43283	0.590564846992	0.51574	T	0.017706	0.14396	T	-0.567227	0.00230	T	-0.575882	0.14914	T	0.0307644589758367	0.02108	T	0.815218	0.60121	T	0.03230234	0.03230	0.04453624	0.05791	0.03230234	0.03230	0.04453624	0.05791	-3.427	0.15422	T	.	.	0.065	0.02012	B	.;.;.	.;.;.	2.269194	0.28999	17.98	0.99029085608765388	0.50764	0.93915	0.59560	D	AEFDBIJ	0.384610	0.46567	N	-0.490317452608835	0.22397	1.195661	-0.253789741410166	0.29641	1.662271	0.999884838743622	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.71	3.47	0.38831	4.897000	0.62918	3.985000	0.40938	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.855:0.0:0.145:0.0	9.468	0.37991	351	0.85421	.;TNRC6, PABC binding domain;TNRC6, PABC binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.007576	0.02632	1068.33	35	chr16	24816903	.	A	G	1068.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.087;SOR=0.652	GT:AD:DP:GQ:PL	0/1:69,41:110:99:1082,0,1736	18	0	1	0
chr16	28757997	28757997	G	T	splicing	NPIPB9	NM_001287251:exon2:c.26-1G>T	.	.	.	583	908	26	5	0	36	0.0194384	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1393415693	0.0001	0.0022	9.244e-05	0.0001	0.0004	9.893e-05	9.081e-05	0.0002	0.0002	0	0.0004	0	3.105e-05	6.442e-05	0	0.0001	6.419e-05	0.0001	8.338e-05	0.0006	8.112e-05	8.578e-05	0.0003	4.507e-05	3.364e-05	6.364e-05	4.536e-05	5.428e-05	0	0	0	0	0	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562717	0.00244	T	-1.04608	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242196	0.02882	0.411	0.277422824348112	0.01392	0.00027	0.00265	N	AEFI	.	.	.	-0.681580609389436	0.16547	0.8440145	-1.15648077630497	0.06652	0.3209219	9.63470082261451E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0932018	0.20989	.	.	.	-1.695000	0.02014	-7.369000	0.01171	-2.070000	0.00409	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	223.64	35	chr16	28757997	.	G	T	223.64	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=0.6304;MLEAC=3;MLEAF=0.083;MQ=40.26;MQRankSum=-0.674;QD=27.95;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:78:0|1:28757992_CA_C:78,0,78:28757992	15	2	1	1
chr16	29382896	29382896	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2036G:p.P679R	.	689	831	2	0	0	2	0.00120192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00338371275204	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1319138889	0.0026	0.0026	0.0025	0.0026	0.0038	0.0025	0.0024	0.0034	0.0033	0.0013	0.0013	0.0021	0.0023	0.0044	0.0025	0.0024	0.0026	0.0038	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	1.0	0.00964	T	0.722	0.05309	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	2.62	0.12988	T	0.99	0.01428	N	0.092	0.07125	-0.9788	0.35277	T	0.009	0.03315	T	5	0.016945839	0.00359	T	0.003384	0.07572	T	0.014	0.01968	0.225	0.14960	0.0920862733494	0.08535	8.989731297647607E-4	0.00082	.	.	.	.	.	0.002448	0.01836	T	-0.746762	0.00019	T	-0.858678	0.00857	T	0.00483012331644523	0.00052	T	0.392661	0.09777	T	0.13408391	0.31165	0.1301983	0.31290	0.13408391	0.31164	0.1301983	0.31289	-4.69	0.33283	T	.	.	0.113	0.22428	B	.	.	-0.188395	0.03150	0.510	0.36059330440144027	0.02298	0.00081	0.00551	N	AEFI	0.027544	0.02270	N	-1.58447936351063	0.01344	0.0585523	-1.68840555836015	0.01189	0.05353436	3.42973070349647E-5	0.03775	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	.	.	.	-1.293000	0.02878	-7.379000	0.01169	-1.143000	0.01438	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	114.33	33	chr16	29382896	.	G	C	114.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.666;DP=555;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.39;MQRankSum=-0.593;QD=5.2;ReadPosRankSum=0.148;SOR=0.307	GT:AD:DP:GQ:PL	0/1:16,6:22:99:128,0,416	18	0	1	0
chr16	29664774	29664774	G	A	exonic	SPN	.	nonsynonymous SNV	SPN:NM_001030288:exon2:c.G1046A:p.R349Q,SPN:NM_003123:exon2:c.G1046A:p.R349Q	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00931373903863	.	0.000399361	0.0004	0	0	0	0	0	0	0.0042	0.0001488	23	154602	rs574440536	0.0001	0.0002	8.724e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	3.355e-05	0	0	2.649e-05	6.259e-05	0.0002	3.688e-05	0.0002	0.0021	0.0001	0.0001	0.0001	0.0002	0.0027	9.738e-05	8.253e-05	0.0016	0.0013	4.81e-05	0	0	0	0	0	0.0034	8.821e-05	0	0.0027	0.098	0.32141	T	0.118	0.36233	T	0.995	0.67487	D	0.625	0.51564	P	0.180018	0.17128	N	0.426903	0.999993	0.08975	N	1.585	0.39878	L	0.85	0.48460	T	-1.18	0.37955	N	0.091	0.08366	-1.0056	0.28277	T	0.134	0.44836	T	10	0.008520037	0.00193	T	0.009314	0.24436	T	0.034	0.08419	.	.	0.568465717781	0.56512	.	.	0.612640393359	0.55853	0.362214922905	0.19708	T	0.369599	0.73429	T	-0.537169	0.00348	T	-0.550858	0.17244	T	0.158167336650048	0.17735	T	0.770523	0.40040	T	0.063672654	0.13432	0.075912535	0.16760	0.063672654	0.13431	0.075912535	0.16760	-10.366	0.76074	D	.	.	0.165	0.36295	B	.;.;.	.;.;.	3.146644	0.42582	21.6	0.99876691584784494	0.95328	0.22372	0.21724	N	AEFDBHCI	0.091011	0.18437	N	-0.207621814375622	0.32821	1.85526	-0.342560293467246	0.26739	1.478958	0.999999385705377	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.18	2.12	0.26372	0.455000	0.21555	1.331000	0.25669	0.618000	0.50648	0.002000	0.15269	0.001000	0.17328	0.592000	0.31189	0.175:0.1568:0.6682:0.0	5.875	0.18070	667	0.61242	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1392.33	67	chr16	29664774	.	G	A	1392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=969;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.599;SOR=0.605	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1406,0,1479	18	0	1	0
chr16	30534482	30534482	C	G	exonic	ZNF747	.	nonsynonymous SNV	ZNF747:NM_001305018:exon1:c.G198C:p.M66I,ZNF747:NM_001305019:exon1:c.G198C:p.M66I,ZNF747:NM_001305020:exon1:c.G198C:p.M66I,ZNF747:NM_023931:exon1:c.G198C:p.M66I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00649608325167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.92824	D	0.961	0.55431	D	0.794	0.66466	P	.	.	.	.	0.999507	0.21084	N	2.52	0.73523	M	4.07	0.03033	T	-4.0	0.74051	D	0.614	0.68690	-1.1293	0.01816	T	0.041	0.17785	T	9	0.67322695	0.70838	D	0.006496	0.17100	T	0.142	0.37995	0.771	0.89767	0.281780670237	0.27795	0.610735642326354	0.61005	0.9077017835	0.70913	0.863229751587	0.91586	D	0.117014	0.43679	T	0.00349927	0.52135	T	-0.23275	0.51505	T	0.993381142616272	0.84163	D	0.835616	0.50622	T	0.820908	0.85281	0.89927006	0.94924	0.820908	0.85282	0.89927006	0.94924	-9.265	0.69387	D	.	.	0.986	0.92581	P	.;.;.	.;.;.	4.872602	0.79845	27.2	0.994905885723395	0.67403	0.38387	0.25977	N	ALL	0.083165	0.16847	N	0.385113048418276	0.60616	4.252351	0.228879920620435	0.51457	3.327978	0.99999999988896	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.5	2.5	0.29355	1.756000	0.38018	7.276000	0.58006	0.333000	0.19617	0.987000	0.36337	1.000000	0.68203	0.312000	0.24784	0.0:1.0:0.0:0.0	8.609	0.32950	214	0.91692	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1137.33	37	chr16	30534482	.	C	G	1137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=754;ExcessHet=0;FS=6.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.785;SOR=0.333	GT:AD:DP:GQ:PL	0/1:70,41:111:99:1151,0,1987	18	0	1	0
chr16	30555969	30555969	A	C	exonic	ZNF764	.	nonsynonymous SNV	ZNF764:NM_001172679:exon3:c.T449G:p.L150R,ZNF764:NM_033410:exon3:c.T452G:p.L151R	.	425	1063	32	2	0	36	0.0166512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0043	0.00499201	0.0039	0.0092	0.0007	0.0001	0.0009	0.0028	0.0081	0.0099	0.0034993	541	154602	rs145819551	0.0022	0.0022	0.0019	0.0025	0.0107	0.0022	0.0021	0.0101	0.0099	0.0094	0.0012	0.0065	0.0002	0.0008	0.0100	0.0013	0.0034	0.0107	0.0041	0.0041	0.0042	0.0040	0.0098	0.0039	0.0038	0.0086	0.0083	0.0094	0	0.0022	0.0069	0	0.0008	0.0205	0.0017	0.0038	0.0098	0.344	0.12552	T	0.38	0.16134	T	0.0	0.02946	B	0.001	0.04355	B	0.252272	0.15484	N	0.480260	1	0.08975	N	0.69	0.16971	N	3.28	0.06681	T	-0.87	0.23590	N	0.165	0.20528	-0.9800	0.35002	T	0.008	0.02926	T	10	0.0039159954	0.00075	T	.	.	.	0.022	0.04323	.	.	0.149567049428	0.14543	0.2104401489772542	0.20960	0.290997932504	0.31501	0.416627287865	0.27373	T	0.006149	0.05589	T	-0.663892	0.00060	T	-0.71845	0.04871	T	6.68280772515573e-05	0.00001	T	0.112089	0.00848	T	0.0801973	0.18363	0.07744414	0.17252	0.0801973	0.18363	0.07744414	0.17251	-1.919	0.02889	T	.	.	0.064	0.01668	B	.;.	.;.	-0.358155	0.02373	0.261	0.37152096643439436	0.02431	0.02813	0.07543	N	AEFDBI	0.042603	0.06630	N	-1.41135848690446	0.02538	0.112211	-1.41896193510169	0.03063	0.1421382	0.94258433574434	0.27528	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.94	-0.749	0.10525	-0.473000	0.06694	-0.370000	0.09613	-1.619000	0.00871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2684:0.2909:0.4407:0.0	4.815	0.12728	213	0.91726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015121	0.005051	0.021739	0.023392	0.000000	0.025862	0.003067	0.003788	0.02632	853.33	47	chr16	30555969	.	A	C	853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.12;DP=761;ExcessHet=0;FS=1.99;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.62;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,32:69:99:867,0,1018	18	0	1	0
chr16	30652835	30652835	C	A	exonic	PRR14	.	nonsynonymous SNV	PRR14:NM_001320464:exon4:c.C307A:p.Q103K,PRR14:NM_024031:exon4:c.C307A:p.Q103K	.	424	1093	4	1	0	6	0.00273723	.	.	.	2762592	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00717022077571	.	0.000199681	7.467e-05	9.819e-05	8.682e-05	0	0	9.059e-05	0	6.064e-05	8.41e-05	13	154602	rs199988594	7.457e-05	7.456e-05	7.351e-05	7.563e-05	0.0002	6.315e-05	5.873e-05	7.509e-05	7e-05	0	6.71e-05	3.829e-05	0	0	0.0002	8.993e-05	4.967e-05	1.159e-05	0.0001	0.0001	0.0002	9.395e-05	0.0002	8.16e-05	6.718e-05	9.047e-05	7.011e-05	7.215e-05	0	0.0001	0	0	0	0	0.0002	0.0009	0.0002	0.097	0.31088	T	0.822	0.53072	T	0.386	0.34500	B	0.085	0.29395	B	0.222571	0.16104	N	0.548566	1	0.08975	N	2.395	0.69210	M	0.88	0.46028	T	-2.55	0.59059	D	0.17	0.18103	-1.0122	0.26228	T	0.091	0.34792	T	10	0.044191897	0.03349	T	0.00717	0.19006	T	0.043	0.11576	.	.	0.201204373187	0.19734	0.20780289948028943	0.20696	0.304373407854	0.32745	0.335758388042	0.15802	T	0.139257	0.47318	T	-0.37172	0.03508	T	-0.535058	0.18784	T	0.0370755645613852	0.03168	T	0.490351	0.15073	T	0.11566073	0.27290	0.05277172	0.08761	0.11566073	0.27290	0.05277172	0.08760	-4.258	0.27584	T	.	.	0.072	0.13969	B	.;.;.;.	.;.;.;.	0.176374	0.05646	2.096	0.40594290008315942	0.02875	0.06737	0.12759	N	AEFBI	0.097162	0.19602	N	-1.27567184389841	0.03971	0.1783515	-1.32119553350296	0.04157	0.1954761	0.999648667251767	0.41316	0.722319	0.85440	0	0.685571	0.66316	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	5.5	1.27	0.20595	0.246000	0.17935	0.773000	0.21413	-2.146000	0.00375	0.130000	0.23345	0.831000	0.27213	0.067000	0.16453	0.2284:0.5741:0.1218:0.0757	5.364	0.15406	46	0.97728	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2132.33	34	chr16	30652835	.	C	A	2132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.496;DP=831;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.358;SOR=0.639	GT:AD:DP:GQ:PL	0/1:97,86:183:99:2146,0,2555	18	0	1	0
chr16	31078977	31078977	C	T	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C2653T:p.L885F	.	.	.	.	.	.	.	.	.	.	.	4096614	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00732010461719	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359584428	2.062e-06	2.052e-06	1.366e-06	2.767e-06	2.707e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.707e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.169	0.23007	T	0.459	0.27591	T	0.738	0.42905	P	0.359	0.43123	B	.	.	.	.	0.822688	0.28862	N	1.545	0.39105	L	1.56	0.29602	T	-1.3	0.33401	N	0.455	0.49237	-1.0402	0.17253	T	0.068	0.28013	T	9	0.31874245	0.49269	T	0.00732	0.19415	T	0.045	0.12272	0.387	0.40788	0.59123100597	0.58800	0.1358774199460159	0.13511	0.783494048791	0.65400	0.632814645767	0.57544	T	0.005413	0.04862	T	-0.148566	0.28538	T	-0.451181	0.27566	T	0.852024078369141	0.50341	D	0.785621	0.42343	T	0.10069483	0.23779	0.15228622	0.35836	0.10069483	0.23778	0.15228622	0.35836	-3.408	0.15164	T	.	.	0.305	0.55313	B	.;.	.;.	3.840034	0.55556	23.6	0.99882768495516028	0.95892	0.79382	0.39325	D	AEFBCI	0.122459	0.23761	N	0.227536028312275	0.52536	3.427273	0.317443627235464	0.56565	3.819948	0.999520588858424	0.40175	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	5.25	5.25	0.73169	1.041000	0.29901	.	.	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.0:0.9153:0.0:0.0847	11.842	0.51633	41	0.97903	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1267.33	38	chr16	31078977	.	C	T	1267.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.367;DP=984;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-1.956;SOR=0.49	GT:AD:DP:GQ:PL	0/1:46,47:93:99:1281,0,1416	18	0	1	0
chr16	31330527	31330527	C	G	exonic	ITGAM	.	nonsynonymous SNV	ITGAM:NM_000632:exon28:c.C3198G:p.I1066M,ITGAM:NM_001145808:exon28:c.C3201G:p.I1067M	.	0	1520	2	0	0	2	0.000657462	.	.	.	1484208	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0135904408938	.	.	1.696e-05	0	0	0	0	1.527e-05	0	6.297e-05	2.59e-05	4	154602	rs766849693	4.585e-05	4.583e-05	4.085e-05	5.09e-05	0.0021	3.663e-05	3.348e-05	0.0012	0.0009	0.0001	0.0001	0	0	0	0.0021	3.059e-05	0.0001	4.64e-05	7.227e-05	7.224e-05	5.138e-05	9.416e-05	0.0001	3.971e-05	3.127e-05	5.841e-05	4.238e-05	0	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.008	0.58626	D	0.008	0.67890	D	0.19	0.29379	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.46	0.56281	T	-1.4	0.34596	N	0.177	0.21319	-0.9712	0.36946	T	0.078	0.31012	T	9	0.06873503	0.09763	T	0.01359	0.33109	T	0.042	0.11227	.	.	0.382761230579	0.37889	0.2654989481270746	0.26462	0.397008865378	0.40804	0.35062751174	0.18013	T	0.09853	0.40245	T	-0.341149	0.05308	T	-0.524214	0.19868	T	0.0406657552483551	0.03811	T	0.535446	0.17943	T	0.14750573	0.33718	0.11513074	0.27793	0.14750573	0.33717	0.11513074	0.27792	-4.408	0.30401	T	.	.	0.108	0.31857	B	.;.;.;.	.;.;.;.	1.185246	0.15760	12.08	0.93967403199678845	0.24040	0.00837	0.03359	N	AEFDBI	0.055291	0.10127	N	-1.40485451336374	0.02596	0.1148408	-1.53231078063274	0.02100	0.09608274	0.999999999459547	0.74766	0.676563	0.55306	0	0.633656	0.55848	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	5.03	-10.1	0.00330	-3.083000	0.00675	.	.	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.674000	0.33367	0.0921:0.4234:0.3032:0.1813	5.186	0.14510	273	0.89298	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	2049.33	33	chr16	31330527	.	C	G	2049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.22;DP=828;ExcessHet=0;FS=6.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.743;SOR=1.218	GT:AD:DP:GQ:PL	0/1:101,78:179:99:2063,0,2326	18	0	1	0
chr16	32253357	32253357	C	T	exonic	TP53TG3D	.	nonsynonymous SNV	TP53TG3D:NM_001243722:exon1:c.C4T:p.R2C	.	955	560	6	1	0	8	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019805203702	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs1279462442	0.0003	0.0012	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0	0.0004	0.0004	0	0.0002	0	0.0004	0.0004	4.237e-05	0.0048	0.0053	0.0050	0.0047	0.0092	0.0043	0.0041	0.0059	0.0056	0.0010	0	0.0050	0.0089	0	0.0085	0	0.0068	0.0015	0.0092	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.34	0.34841	T	-7.9	0.96191	D	0.096	0.08786	.	.	.	.	.	.	.	0.009218931	0.00208	T	0.019805	0.42265	T	.	.	.	.	.	.	0.0012807888312944445	0.00118	3.07987304828	0.99351	0.500791847706	0.38938	T	.	.	.	-0.585598	0.00178	T	-0.595023	0.13233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.163066	0.27562	17.50	0.98037501909506441	0.37758	0.00399	0.01994	N	AEFI	0.045997	0.07588	N	.	.	.	.	.	.	3.09984349074482E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.834000	0.04498	-11.975000	0.00560	-0.745000	0.03636	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03125	65.01	3	chr16	32253357	.	C	T	65.01	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.741;DP=104;ExcessHet=0;FS=0;InbreedingCoeff=-0.0955;MLEAC=1;MLEAF=0.031;MQ=26.89;MQRankSum=0.298;QD=4.64;ReadPosRankSum=-0.355;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,4:14:77:77,0,253	15	0	1	3
chr16	50711232	50711232	G	A	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.G1240A:p.E414K,NOD2:NM_001370466:exon4:c.G1240A:p.E414K,NOD2:NM_022162:exon4:c.G1321A:p.E441K	Blau syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	103719	Blau_syndrome|Regional_enteritis|not_provided|Inflammatory_bowel_disease_1	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.344	0.17520984221	0.0003	0.000199681	0.0003	0	0.0003	0	0	0.0005	0	6.057e-05	0.0002911	45	154602	rs104895432	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.987e-05	0.0002	3.826e-05	0	0.0003	0.0003	0.0004	0.0004	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0007	0.0003	0.0002	0.0004	0.0003	9.62e-05	0	0.0007	0	0	0.0002	0.0034	0.0005	0.0005	0	0.774	0.03344	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000360	0.45440	D	0.095984	0.973845	0.39056	D	1.15	0.29295	L	-0.03	0.63077	T	0.09	0.05917	N	0.378	0.41952	-0.6524	0.62609	T	0.282	0.65438	T	10	0.24522126	0.41767	T	0.17521	0.85135	D	0.344	0.66582	.	.	0.864794614297	0.86348	0.6861454139163959	0.68554	0.528228612512	0.50417	0.444496810436	0.31191	T	0.150555	0.49008	T	-0.181748	0.23475	T	-0.116877	0.62057	T	0.107235654475472	0.13134	T	0.906109	0.66926	D	0.099241756	0.23419	0.124394536	0.29983	0.1052875	0.24892	0.12057479	0.29097	-8.046	0.61383	D	0.2664191784713233	0.35907	0.44	0.61705	A	.;.	.;.	4.115115	0.61465	24.3	0.97588441142434768	0.34775	0.57981	0.30520	D	AEFDBI	0.168502	0.29526	N	0.0872021424980342	0.45866	2.83611	-0.023323804820884	0.38663	2.281159	0.999891344304765	0.45129	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.26	4.3	0.50540	3.384000	0.52216	11.482000	0.92895	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0888:0.1698:0.7413:0.0	7.482	0.26582	701	0.57775	.;NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2880.33	138	chr16	50711232	.	G	A	2880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=1330;ExcessHet=0;FS=1.091;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.163;SOR=0.788	GT:AD:DP:GQ:PL	0/1:100,103:203:99:2894,0,2655	18	0	1	0
chr16	56904446	56904446	G	A	exonic	SLC12A3	.	nonsynonymous SNV	SLC12A3:NM_000339:exon25:c.G2935A:p.A979T,SLC12A3:NM_001126107:exon25:c.G2932A:p.A978T,SLC12A3:NM_001126108:exon25:c.G2908A:p.A970T	Gitelman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.173149933027	.	.	1.647e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs534138382	6.842e-06	8.209e-06	6.808e-06	6.877e-06	0.0001	3.46e-06	2.52e-06	4.359e-05	2.767e-05	0	0.0001	0	0	0	0	2.699e-06	3.313e-05	0	6.564e-06	6.561e-06	0	1.342e-05	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.053	0.39334	T	0.021	0.58089	D	0.992	0.65571	D	0.875	0.62516	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	-2.87	0.91589	D	-2.69	0.57435	D	0.932	0.94314	0.142	0.84913	D	0.508	0.81498	D	9	0.9610112	0.95511	D	0.17315	0.84992	D	0.787	0.92948	0.766	0.89373	0.966023195456	0.96565	0.7598689498784748	0.75934	0.379985072841	0.39377	0.489692240953	0.37396	T	0.678552	0.90536	D	0.134368	0.67785	D	0.180935	0.82048	D	0.93194192647934	0.59765	D	0.90351	0.66162	D	0.41762984	0.61934	0.40188313	0.64686	0.41762984	0.61934	0.40188313	0.64686	-7.03	0.54631	T	0.3094110675121733	0.40723	0.291	0.52276	B	.;.;.;.	.;.;.;.	4.989961	0.82714	27.9	0.99829303342830655	0.91112	0.99707	0.98841	D	AEFDBI	0.902966	0.85148	D	0.59363591659676	0.72776	5.859307	0.457131799087896	0.65176	4.790871	0.999999999857941	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	9.523000	0.97087	11.774000	0.95935	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	0.0:0.0:1.0:0.0	17.445	0.87468	840	0.37365	.;.;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1727.33	38	chr16	56904446	.	G	A	1727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=1059;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.417;SOR=0.624	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1741,0,1864	18	0	1	0
chr16	56983376	56983376	T	-	exonic	CETP	.	frameshift deletion	CETP:NM_001286085:exon14:c.1192delT:p.F398Sfs*35,CETP:NM_000078:exon15:c.1372delT:p.F458Sfs*35	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1541.29	35	chr16	56983375	.	CT	C	1541.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.106;DP=704;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=0.527;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,41:91:99:0|1:56983375_CT_C:1555,0,1971:56983375	18	0	1	0
chr16	56983379	56983379	G	C	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon14:c.G1195C:p.D399H,CETP:NM_000078:exon15:c.G1375C:p.D459H	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	875595	Hyperalphalipoproteinemia_1	MedGen:C3149462,OMIM:143470	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.058278163464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.65419	D	0.004	0.76473	D	0.997	0.70673	D	0.908	0.64494	P	0.019147	0.27321	U	0.320861	0.635524	0.30661	N	1.955	0.52871	M	2.73	0.11839	T	-2.7	0.59873	D	0.295	0.36254	-1.0746	0.08431	T	0.038	0.16290	T	10	0.77127504	0.77103	D	0.058278	0.67261	D	0.176	0.44373	0.808	0.92512	0.498001352042	0.49435	0.5273450742786188	0.52658	0.612468718494	0.55841	0.389087706804	0.23541	T	0.332757	0.70269	T	-0.237499	0.15670	T	-0.578927	0.14640	T	0.93327009677887	0.59989	D	0.877512	0.59164	D	0.1922155	0.40882	0.13937493	0.33257	0.1922155	0.40882	0.13937493	0.33256	-5.758	0.49275	T	0.5479081286695002	0.61681	0.177	0.43585	B	.;.;.	.;.;.	2.376954	0.30503	18.46	0.98032682803626758	0.37728	0.54137	0.29542	D	AEFDGBI	0.426984	0.49111	N	-0.302228343564149	0.29064	1.608442	-0.408763755161747	0.24739	1.356466	0.999985984462911	0.51787	0.51972	0.21558	0	0.522029	0.08744	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.16	-0.0437	0.13187	1.489000	0.35170	0.057000	0.14080	-0.137000	0.12594	0.998000	0.41325	0.013000	0.20296	0.143000	0.20056	0.4034:0.0:0.5966:0.0	5.521	0.16220	851	0.35303	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1541.33	35	chr16	56983379	.	G	C	1541.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.776;DP=703;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=0.674;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,41:91:99:0|1:56983375_CT_C:1555,0,1971:56983375	18	0	1	0
chr16	67155405	67155405	C	T	exonic	TRADD	.	nonsynonymous SNV	TRADD:NM_001323552:exon3:c.G401A:p.R134H,TRADD:NM_003789:exon3:c.G401A:p.R134H	.	421	1097	4	0	0	4	0.00181984	.	.	.	3924587	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.00850278959588	.	.	7.937e-05	0	9.575e-05	0	0	3.63e-05	0.0028	0.0002	5.17e-05	8	154602	rs753417792	4.149e-05	4.173e-05	3.58e-05	4.722e-05	0.0007	3.28e-05	2.951e-05	0.0002	0.0002	0	2.238e-05	0	0	0	0.0007	2.519e-05	6.648e-05	0.0003	3.941e-05	3.94e-05	5.137e-05	2.689e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.54e-05	0	0	0	0	5.879e-05	0	0.0002	0.359	0.11957	T	0.326	0.18789	T	0.011	0.15914	B	0.006	0.12133	B	0.014978	0.28378	N	0.399244	0.972865	0.39588	D	1.26	0.31868	L	.	.	.	-1.14	0.29323	N	0.212	0.23632	-0.9830	0.34305	T	0.149	0.47487	T	9	0.16464946	0.30796	T	0.008503	0.22482	T	0.156	0.40720	0.592	0.72123	0.182106788282	0.17826	0.3824081727453987	0.38155	0.937084714361	0.72070	0.451850563288	0.32197	T	0.150347	0.48978	T	-0.406868	0.02086	T	-0.520493	0.20245	T	0.0645001381635666	0.07857	T	0.822218	0.48193	T	0.18261711	0.39489	0.08297049	0.18977	0.18261711	0.39488	0.08297049	0.18976	-4.998	0.36819	T	.	.	0.084	0.14339	B	.;.	.;.	2.495423	0.32200	18.97	0.95483445206706841	0.27049	0.15518	0.18951	N	ALL	0.266057	0.38305	N	-0.585219525273841	0.19392	1.014596	-0.475037799842557	0.22844	1.242806	1.0	0.98316	0.72623	0.87236	0	0.594344	0.48745	0	0.503968	0.08637	0	0.71	0.69187	0	.	.	5.49	3.56	0.39892	0.762000	0.26168	0.443000	0.18445	-0.202000	0.08738	0.945000	0.32849	0.866000	0.27540	0.217000	0.22379	0.0:0.7601:0.0:0.2399	8.461	0.32089	48	0.97687	TRADD, N-terminal|TRADD, 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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05263	5038.83	33	chr16	67155405	.	C	T	5038.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.85;DP=1039;ExcessHet=0.119;FS=1.766;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.821;SOR=0.827	GT:AD:DP:GQ:PL	0/1:106,110:216:99:2778,0,2598	17	0	2	0
chr16	67195891	67195911	CAGCAGCAGCAGCAGCAGCAG	-	exonic	E2F4	.	nonframeshift deletion	E2F4:NM_001950:exon7:c.918_938del:p.S313_S319del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248478162	0.0002	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0012	0.0011	0.0015	0.0002	0.0007	0.0001	1.885e-05	0.0002	0.0002	0.0001	0.0003	0.0005	0.0005	0.0005	0.0004	0.0012	0.0004	0.0004	0.0010	0.0009	0.0012	0	0.0001	0.0003	0	9.747e-05	0	0.0002	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5895.51	41	chr16	67195890	.	ACAGCAGCAGCAGCAGCAGCAG	A	5895.51	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.361;DP=2257;ExcessHet=8.9063;FS=1.433;InbreedingCoeff=-0.4074;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=-0.418;SOR=0.646	GT:AD:DP:GQ:PL	0/1:48,61:120:99:2257,0,2711	18	0	1	0
chr16	67280076	67280076	C	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon1:c.C32T:p.S11F,PLEKHG4:NM_001129728:exon2:c.C32T:p.S11F,PLEKHG4:NM_001129729:exon2:c.C32T:p.S11F,PLEKHG4:NM_001129727:exon3:c.C32T:p.S11F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00571155566016	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255719107	2.053e-06	2.052e-06	1.362e-06	2.751e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.92824	D	0.971	0.57185	D	0.641	0.52117	P	.	.	.	.	1	0.08975	N	0.955	0.23872	L	2.62	0.16351	T	-1.46	0.71519	N	0.096	0.16725	-1.0736	0.08639	T	0.060	0.24981	T	9	0.08909717	0.15401	T	0.005712	0.14802	T	0.060	0.17295	0.168	0.07302	0.289847578895	0.28608	0.14821389820721237	0.14743	0.61667274864	0.56125	0.376740634441	0.21794	T	0.031201	0.35582	T	-0.29783	0.08866	T	-0.568734	0.15565	T	0.228057539687042	0.21859	T	0.70223	0.31713	T	0.12107545	0.28478	0.1351425	0.32364	0.12107545	0.28477	0.1351425	0.32363	-5.357	0.40504	T	.	.	0.101	0.29255	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.982161	0.39788	21.0	0.99702309156501712	0.80729	0.12202	0.17123	N	AEFDBCI	0.060110	0.11401	N	-0.40228923517836	0.25390	1.377844	-0.457376521992897	0.23340	1.272291	0.999993786511118	0.74766	0.660085	0.49399	0	0.851559	0.99867	0	0.673471	0.61138	0	0.651492	0.60203	0	.	.	4.22	3.27	0.36580	0.510000	0.22430	1.323000	0.25616	-0.186000	0.09761	0.001000	0.13787	0.001000	0.17328	0.968000	0.53726	0.0:0.8866:0.0:0.1134	7.836	0.28533	23	0.98420	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	356.33	35	chr16	67280076	.	C	T	356.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.034;DP=649;ExcessHet=0;FS=1.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.28;SOR=0.317	GT:AD:DP:GQ:PL	0/1:21,14:35:99:370,0,718	18	0	1	0
chr16	67293886	67293886	C	T	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon12:c.G1876A:p.D626N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0238668834355	.	.	8.401e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	.	6.849e-07	6.842e-07	0	1.377e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.799	0.44910	P	0.205	0.37080	B	0.000901	0.41128	D	0.107273	0.710258	0.30020	N	0.805	0.20218	L	-0.05	0.63403	T	-0.9	0.24244	N	0.193	0.21188	-0.7220	0.59364	T	0.137	0.45260	T	10	0.19941023	0.35949	T	0.023867	0.46847	T	0.109	0.30843	0.19	0.10039	0.824481828275	0.82282	0.21494374546192774	0.21410	0.272956107409	0.29804	0.441002935171	0.30714	T	0.014901	0.12601	T	-0.174365	0.24579	T	-0.48824	0.23576	T	0.701426923274994	0.40787	D	0.814619	0.46840	T	0.2177227	0.44263	0.15890536	0.37086	0.2177227	0.44263	0.15890536	0.37085	-4.089	0.25128	T	.	.	0.112	0.22098	B	.	.	3.111687	0.41976	21.5	0.99892865249898022	0.96666	0.81865	0.41185	D	AEFBI	0.593767	0.58896	D	0.23160323342647	0.52736	3.445967	0.337127820608552	0.57736	3.940469	0.999931573471592	0.46732	0.553676	0.25195	0	0.588015	0.36545	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	5.63	4.63	0.57175	2.979000	0.49004	4.846000	0.45329	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1675:0.8324:0.0:0.0	12.430	0.54905	25	0.98345	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	4728.83	33	chr16	67293886	.	C	T	4728.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.317;DP=976;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.352;SOR=0.673	GT:AD:DP:GQ:PL	0/1:86,84:170:99:2082,0,2159	17	0	2	0
chr16	67842914	67842915	GC	-	exonic	THAP11	.	frameshift deletion	THAP11:NM_020457:exon1:c.360_361del:p.Q121Afs*118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.669e-05	0	8.864e-05	0	0	0	0	0.0001	2.59e-05	4	154602	rs1491433154	2.446e-05	3.954e-05	1.806e-05	3.093e-05	0.0002	1.776e-05	1.572e-05	0.0001	7.436e-05	0.0002	9.152e-05	3.964e-05	0	0	0	1.097e-05	1.696e-05	0.0001	5.741e-05	5.432e-05	8.413e-05	2.94e-05	0.0002	2.765e-05	2.08e-05	7.952e-05	5.396e-05	0.0002	0	6.919e-05	0	0	0	0	1.515e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1302.29	38	chr16	67842913	.	AGC	A	1302.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.093;DP=745;ExcessHet=0;FS=4.4;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.977;SOR=1.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,37:89:99:0|1:67842913_AGC_A:1316,0,2037:67842913	18	0	1	0
chr16	67842917	67842923	GCAACAG	-	exonic	THAP11	.	frameshift deletion	THAP11:NM_020457:exon1:c.363_369del:p.Q121Hfs*42	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.657e-05	0	8.851e-05	0	0	0	0	0.0001	3.84e-05	1	26028	rs747270195	2.379e-05	3.191e-05	1.669e-05	3.096e-05	0.0002	1.712e-05	1.511e-05	0.0001	7.452e-05	0.0002	9.161e-05	3.966e-05	0	0	0	1.006e-05	1.697e-05	0.0001	5.729e-05	5.43e-05	8.399e-05	2.932e-05	0.0002	2.76e-05	2.076e-05	7.912e-05	5.37e-05	0.0002	0	6.907e-05	0	0	0	0	1.515e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1299.29	38	chr16	67842916	.	AGCAACAG	A	1299.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.645;DP=747;ExcessHet=0;FS=5.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.858;SOR=1.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,37:90:99:0|1:67842913_AGC_A:1313,0,2076:67842913	18	0	1	0
chr16	67842920	67842923	ACAG	0	exonic	THAP11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	15663.3	38	chr16	67842920	.	ACAG	*	15663.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=1169;ExcessHet=1.7862;FS=0.549;InbreedingCoeff=-0.0523;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.64;ReadPosRankSum=0.938;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,37:90:99:0|1:67842913_AGC_A:1313,0,2076:67842913	18	0	1	0
chr16	68167001	68167001	T	C	exonic	NFATC3	.	nonsynonymous SNV	NFATC3:NM_004555:exon5:c.T1760C:p.I587T,NFATC3:NM_173163:exon5:c.T1760C:p.I587T,NFATC3:NM_173165:exon5:c.T1760C:p.I587T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0127607144146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.05121	T	0.101	0.39040	T	0.967	0.60733	D	0.813	0.64720	P	0.000001	0.62929	D	0.129315	0.999967	0.52935	D	1.06	0.26948	L	1.06	0.39781	T	-0.44	0.14588	N	0.691	0.73375	-0.9034	0.47628	T	0.148	0.47469	T	10	0.59645724	0.66669	D	0.012761	0.31612	T	0.281	0.59861	0.419	0.46036	0.236619781664	0.23270	0.38716388932902646	0.38631	0.4464045927	0.44513	0.835779964924	0.87450	D	0.105167	0.41539	T	0.06784	0.60586	T	-0.140329	0.60090	T	0.921928822994232	0.58181	D	0.956304	0.83415	D	0.16079855	0.36045	0.17918544	0.40636	0.16079855	0.36045	0.17918544	0.40635	-10.447	0.77060	D	.	.	0.406	0.60172	A	.;.;.;.	.;.;.;.	4.560200	0.71854	25.7	0.99197778379257784	0.55171	0.98440	0.82799	D	AEFDGBI	0.907057	0.86059	D	0.589426272700913	0.72514	5.817761	0.655378354271738	0.79009	6.993278	0.999999995817614	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	7.991000	0.87898	5.076000	0.47223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.312	0.82714	11	0.98996	Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), 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	.	.	.	.	.	.	.	.	0.02632	761.33	34	chr16	68167001	.	T	C	761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=693;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=1.33;SOR=0.883	GT:AD:DP:GQ:PL	0/1:47,30:77:99:775,0,1161	18	0	1	0
chr16	69954556	69954556	T	G	exonic	CLEC18A	.	nonsynonymous SNV	CLEC18A:NM_001370523:exon3:c.T439G:p.C147G,CLEC18A:NM_001136214:exon4:c.T439G:p.C147G,CLEC18A:NM_001271197:exon4:c.T439G:p.C147G,CLEC18A:NM_182619:exon4:c.T439G:p.C147G	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0140490334408	0.0002	0.000599042	0.0003	0	0	0	0	0.0002	0.0028	0.0007	0.0001153	3	26028	rs144215595	0.0002	0.0002	0.0002	0.0003	0.0055	0.0002	0.0002	0.0040	0.0034	0.0002	8.972e-05	0.0012	0	0	0.0055	0.0001	0.0006	0.0010	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	8.717e-05	0.0004	0.0003	0	0	6.539e-05	0.0012	0	0	0.0034	0.0002	0.0005	0.0010	0.0	0.91255	D	0.0	0.92824	D	0.492	0.41009	P	0.357	0.43052	B	0.000000	0.84330	D	0.000000	0.99968	0.48270	D	4.66	0.99393	H	2.82	0.10871	T	-10.11	0.98880	D	0.93	0.94196	-1.0150	0.25336	T	0.089	0.34381	T	9	0.48814273	0.60831	T	0.014049	0.33902	T	0.277	0.59375	.	.	0.450152462452	0.44640	0.8339316664193848	0.83352	1.51099141099	0.87238	0.731885254383	0.71782	T	0.182084	0.53397	T	-0.17956	0.23799	T	-0.132668	0.60746	T	0.316900551319122	0.25696	T	0.861714	0.55578	D	0.9789934	0.99032	0.92242587	0.96568	0.9789934	0.99032	0.92242587	0.96569	-13.199	0.90165	D	.	.	0.511	0.68297	A	.;.;.;.;.	.;.;.;.;.	3.820854	0.55171	23.6	0.94913027578932208	0.25777	0.82939	0.42102	D	AEFI	0.634250	0.61419	D	0.130906544421292	0.47908	3.010	-0.0275981126633473	0.38472	2.26719	0.0068457571650302	0.11323	0.554377	0.28877	0	0.573888	0.26702	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	1.97	1.97	0.25278	5.427000	0.66220	7.745000	0.68059	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.0:0.0:1.0	5.993	0.18706	242	0.90534	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP 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	0.007084	0.022059	0.005495	0.021930	0.000000	0.008929	0.000000	0.000000	0.02632	2133.33	214	chr16	69954556	.	T	G	2133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.642;DP=2404;ExcessHet=0;FS=8.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.77;MQRankSum=5.19;QD=14.51;ReadPosRankSum=-1.305;SOR=1.215	GT:AD:DP:GQ:PL	0/1:64,83:147:99:2147,0,1496	18	0	1	0
chr16	70271851	70271851	C	T	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon5:c.G601A:p.A201T	.	.	.	.	.	.	.	.	.	.	.	574150	Charcot-Marie-Tooth_disease_type_2|not_provided|Inborn_genetic_diseases|not_specified	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.0216068161908	.	.	4.119e-05	0	8.639e-05	0	0	5.996e-05	0	0	3.23e-05	5	154602	rs760716722	2.189e-05	2.189e-05	2.314e-05	2.063e-05	6.708e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	6.708e-05	0	0	0	0	2.608e-05	0	0	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.074	0.42976	T	0.47	0.36540	P	0.2	0.36839	B	0.000142	0.49130	N	0.208972	0.999967	0.52935	D	1.605	0.40863	L	-0.63	0.72011	T	-1.74	0.41239	N	0.293	0.33140	-0.4311	0.71031	T	0.350	0.71399	T	10	0.2055561	0.36786	T	0.021607	0.44401	T	0.177	0.44549	0.438	0.49157	0.748652128195	0.74638	0.3434984729162173	0.34262	0.332461240393	0.35292	0.582341313362	0.50415	T	0.405184	0.76143	T	-0.131203	0.31302	T	-0.269875	0.47831	T	0.0972619530400862	0.12052	T	0.983102	0.94254	D	0.2900656	0.51998	0.23619391	0.48884	0.2900656	0.51998	0.23619391	0.48883	-8.057	0.61458	D	0.31982096656696496	0.41795	0.12	0.24767	B	.	.	4.140606	0.62030	24.4	0.99903052685487381	0.97426	0.55216	0.29808	D	AEFDBCI	0.219692	0.34454	N	0.0848408564801676	0.45756	2.826871	0.122526464036858	0.45704	2.828824	0.999993561242671	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	0.826000	0.27061	4.023000	0.41268	0.599000	0.40250	0.196000	0.24261	0.999000	0.35428	0.802000	0.37819	0.0:1.0:0.0:0.0	17.802	0.88500	148	0.94114	Alanyl-tRNA synthetase, class IIc, N-terminal|Alanyl-tRNA synthetase, class IIc, core domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1230.33	33	chr16	70271851	.	C	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.044;DP=727;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.7;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1244,0,991	18	0	1	0
chr16	81216314	81216314	C	T	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001076780:exon2:c.G394A:p.G132R	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0033	0.00179712	0.0035	0.0002	0.0011	0	0.0009	0.0033	0.0033	0.0109	0.0032341	500	154602	rs117142104	0.0040	0.0040	0.0038	0.0041	0.0108	0.0039	0.0039	0.0102	0.0100	0.0004	0.0024	0.0040	7.557e-05	0.0019	0.0049	0.0038	0.0041	0.0108	0.0027	0.0027	0.0024	0.0029	0.0103	0.0024	0.0024	0.0081	0.0072	0.0008	0.0011	0.0042	0.0043	0	0.0015	0.0034	0.0033	0.0019	0.0103	.	.	.	.	.	.	0.011	0.15914	B	0.007	0.12992	B	0.070159	0.02240	N	1.864710	1	0.08975	N	.	.	.	2.35	0.16217	T	-0.89	0.24026	N	0.304	0.34336	-1.0130	0.25975	T	0.025	0.10553	T	9	0.0045502484	0.00094	T	.	.	.	0.090	0.26093	0.456	0.52102	0.0666544352282	0.05500	.	.	.	.	0.238974839449	0.02699	T	.	.	.	-0.544696	0.00314	T	-0.547233	0.17593	T	0.00106614623460968	0.00010	T	0.467453	0.13767	T	.	.	.	.	.	.	.	.	-2.788	0.08073	T	.	.	0.100	0.17060	B	.	.	-0.712663	0.01291	0.069	0.75862912353876277	0.11240	0.02398	0.06797	N	AEFDBI	0.043468	0.06874	N	-1.26278037488015	0.04133	0.1859769	-1.36162422211013	0.03670	0.1717083	0.178829488382355	0.17842	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	-5.71	0.02218	-0.351000	0.07760	-6.570000	0.01363	-0.186000	0.09761	0.102000	0.22834	0.000000	0.08366	0.011000	0.09372	0.0:0.2331:0.2156:0.5513	9.345	0.37269	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.002717	0.000000	0.000000	0.008621	0.009146	0.011364	0.05263	4180.83	34	chr16	81216314	.	C	T	4180.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.18;DP=910;ExcessHet=0.119;FS=2.534;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.206;SOR=0.846	GT:AD:DP:GQ:PL	0/1:82,79:161:99:2062,0,1996	17	0	2	0
chr16	84495752	84495754	CTC	-	exonic	MEAK7	.	nonframeshift deletion	MEAK7:NM_020947:exon3:c.313_315del:p.E105del	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0121	0.00638978	0.0029	0.0256	0.0026	0	0	0.0008	0.0022	0.0001	0.0001035	16	154602	rs200260198	0.0014	0.0014	0.0015	0.0013	0.0290	0.0014	0.0014	0.0275	0.0269	0.0290	0.0024	0.0011	0	0	0.0052	0.0007	0.0030	0.0002	0.0086	0.0086	0.0089	0.0082	0.0279	0.0082	0.0080	0.0266	0.0260	0.0279	0	0.0040	0.0003	0	0	0.0136	0.0009	0.0076	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013595	0.045455	0.023098	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	2081.29	34	chr16	84495751	.	TCTC	T	2081.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=756;ExcessHet=0;FS=1.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=1.57;SOR=0.869	GT:AD:DP:GQ:PL	0/1:56,54:110:99:2095,0,2156	18	0	1	0
chr16	88429505	88429505	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G2035A:p.E679K	Brittle cornea syndrome 1, Autosomal recessive	0	1477	41	4	0	49	0.016317	.	.	.	344289	Ehlers-Danlos_syndrome|not_specified|not_provided|Brittle_cornea_syndrome_1|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	.	0.0081869	0.0211	0	0.0068	0	0	0.0064	0.0065	0.0353	0.0025614	396	154602	rs551591362	0.0031	0.0028	0.0021	0.0041	0.0361	0.0030	0.0030	0.0350	0.0346	0.0003	0.0017	0.0209	0.0002	0	0.0071	0.0004	0.0046	0.0361	0.0020	0.0019	0.0015	0.0025	0.0407	0.0018	0.0017	0.0357	0.0338	7.433e-05	0	0.0006	0.0176	0.0005	0	0.0034	0.0005	0.0029	0.0407	0.043	0.41364	D	0.123	0.35582	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.93	0.09822	T	-1.28	0.32185	N	0.091	0.08506	-0.9758	0.35948	T	0.015	0.06090	T	9	0.003065288	0.00051	T	.	.	.	0.033	0.08068	.	.	.	.	0.24142364072935474	0.24056	.	.	0.524429678917	0.42250	T	0.019	0.14967	T	-0.613088	0.00121	T	-0.625572	0.10753	T	0.00625123069437818	0.00069	T	0.555444	0.19245	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03372	B	.;.	.;.	1.252195	0.16489	12.57	0.98335503393313495	0.40388	0.25674	0.22769	N	AEFDBI	0.059430	0.11225	N	-0.839983330351057	0.12297	0.5985457	-0.858935767875383	0.13072	0.6761727	0.989395211841557	0.31812	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.61	0.011	0.13408	0.644000	0.24455	0.377000	0.17739	-0.177000	0.10537	0.103000	0.22855	0.015000	0.20450	0.001000	0.02609	0.1637:0.1408:0.5505:0.145	2.905	0.05368	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005495	0.007143	0.004630	0.004310	0.000000	0.000000	0.005882	0.009615	0.02632	667.33	129	chr16	88429505	.	G	A	667.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.83;DP=1322;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.484;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,32:73:99:681,0,1059	18	0	1	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.1053	2783.43	33	chr16	89767168	.	G	C	2783.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.568;DP=751;ExcessHet=0.7564;FS=0.482;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.284;SOR=0.739	GT:AD:DP:GQ:PL	0/1:33,30:63:99:749,0,806	15	0	4	0
chr16	89963378	89963378	A	G	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242817:exon9:c.A757G:p.I253V,DEF8:NM_001242819:exon9:c.A937G:p.I313V,DEF8:NM_001242816:exon10:c.A907G:p.I303V,DEF8:NM_001242818:exon10:c.A937G:p.I313V,DEF8:NM_207514:exon10:c.A1120G:p.I374V,DEF8:NM_001242820:exon11:c.A937G:p.I313V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0286510829187	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480787894	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	1.874e-05	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.021	0.59732	D	0.086	0.24919	B	0.053	0.30479	B	0.000002	0.62929	D	0.056835	0.99958	0.47691	D	2.015	0.55033	M	0.86	0.92208	T	-0.69	0.20358	N	0.466	0.52918	-0.8387	0.52733	T	0.157	0.48959	T	10	0.3048279	0.48004	T	0.028651	0.51291	D	0.233	0.53499	0.592	0.72123	0.552656131934	0.54924	0.3620241085093618	0.36116	0.661067558981	0.58901	0.759543120861	0.75861	T	0.075315	0.35149	T	0.210498	0.74878	D	0.0645895	0.74550	D	0.62038867879685	0.37222	D	0.948505	0.81304	D	0.15094145	0.34338	0.13441938	0.32210	0.15094145	0.34338	0.13441938	0.32209	-6.941	0.54551	T	.	.	0.268	0.50250	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.635333	0.51521	23.1	0.99542052775494949	0.70586	0.98411	0.82500	D	AEFDBI	0.824020	0.74400	D	0.0785989173915239	0.45465	2.802615	0.189113742284385	0.49249	3.130428	0.999998985236799	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.65	4.65	0.57626	6.919000	0.75614	9.228000	0.79339	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.803	0.62705	633	0.64743	.;.;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	587.33	40	chr16	89963378	.	A	G	587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.938;DP=695;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=1.02;SOR=0.406	GT:AD:DP:GQ:PL	0/1:32,28:60:99:601,0,869	18	0	1	0
chr17	2372237	2372237	C	T	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon13:c.C1490T:p.S497F,SGSM2:NM_001346700:exon13:c.C1490T:p.S497F,SGSM2:NM_014853:exon14:c.C1625T:p.S542F	.	414	1098	9	1	0	11	0.00498414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.0747075749649	7.7e-05	0.000199681	0.0009	0	0.0003	0	0	0.0005	0.0011	0.0045	0.0007827	121	154602	rs201675265	0.0006	0.0006	0.0005	0.0008	0.0048	0.0006	0.0006	0.0044	0.0043	0	0.0004	0	2.52e-05	1.893e-05	0.0029	0.0004	0.0010	0.0048	0.0005	0.0005	0.0004	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	4.811e-05	0	0.0002	0.0003	0	0	0	0.0006	0.0009	0.0046	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.983	0.75793	D	0.000051	0.53742	D	0.202236	1	0.81001	D	3.105	0.87672	M	2.11	0.19860	T	-5.21	0.84387	D	0.898	0.92550	-0.6543	0.62525	T	0.191	0.54374	T	10	0.071068555	0.10426	T	0.074708	0.72109	D	0.506	0.78724	.	.	0.65995756008	0.65711	0.8498161828548804	0.84943	0.622517808553	0.56515	0.769440591335	0.77341	T	0.292619	0.66534	T	-0.191595	0.22024	T	-0.046899	0.67235	D	0.170884653925896	0.18640	T	0.983602	0.97025	D	0.77296466	0.82226	0.77023005	0.86433	0.77296466	0.82228	0.77023005	0.86434	-15.805	0.97454	D	.	.	0.965	0.88693	P	.;.;.	.;.;.	5.141162	0.86075	28.8	0.99832747249886222	0.91456	0.99709	0.98858	D	AEFDBI	0.900038	0.84512	D	0.911566182926879	0.92315	11.35336	0.86242267818422	0.93720	12.23345	0.999999999993307	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.42	5.42	0.78666	7.512000	0.80617	7.627000	0.62562	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.271	0.90006	675	0.60470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.05263	1569.83	42	chr17	2372237	.	C	T	1569.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.62;DP=728;ExcessHet=0.119;FS=1.638;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.422;SOR=0.904	GT:AD:DP:GQ:PL	0/1:11,28:39:99:830,0,304	17	0	2	0
chr17	4558172	4558172	G	A	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_153338:exon3:c.C1229T:p.P410L,GGT6:NM_001122890:exon4:c.C1325T:p.P442L,GGT6:NM_001288702:exon4:c.C1343T:p.P448L	.	425	1070	27	0	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0097	0.00459265	0.0076	0.0016	0.0054	0	0.0048	0.0114	0.0133	0.0024	0.007626	1179	154602	rs77762950	0.0091	0.0091	0.0090	0.0092	0.0160	0.0090	0.0089	0.0133	0.0123	0.0017	0.0076	0.0195	2.519e-05	0.0034	0.0160	0.0102	0.0092	0.0026	0.0086	0.0086	0.0084	0.0087	0.0134	0.0082	0.0080	0.0119	0.0113	0.0017	0.1316	0.0134	0.0196	0.0002	0.0044	0.0102	0.0111	0.0137	0.0019	0.018	0.50676	D	0.966	0.02509	T	0.979	0.59044	D	0.747	0.55931	P	0.541062	0.11536	N	0.774976	0.997841	0.22480	N	2.085	0.57729	M	1.92	0.44461	T	-2.82	0.59545	D	0.3	0.41952	-1.0912	0.05335	T	0.054	0.22846	T	10	0.0035294294	0.00063	T	.	.	.	0.097	0.27909	.	.	0.603641259496	0.60047	0.3289904677725707	0.32812	0.217854078565	0.24320	0.282811880112	0.07887	T	0.005573	0.05022	T	-0.549481	0.00294	T	-0.55168	0.17165	T	0.024875988888992	0.01256	T	0.615039	0.23503	T	0.05866649	0.11831	0.10704525	0.25763	0.05866649	0.11830	0.10704525	0.25762	-3.931	0.22768	T	.	.	0.098	0.16407	B	.;.;.;.	.;.;.;.	2.262537	0.28910	17.95	0.9475073979397578	0.25451	0.70330	0.34546	D	AEFDBI	0.233775	0.35664	N	0.186513178198232	0.50551	3.244076	0.167432526251457	0.48072	3.028262	0.999948598767882	0.47345	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.06	4.02	0.45968	1.881000	0.39273	3.783000	0.39798	0.676000	0.76740	0.485000	0.26840	0.998000	0.33993	0.023000	0.12082	0.0:0.0:0.8031:0.1969	10.277	0.42694	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	0.016113	0.010101	0.017663	0.011696	0.050000	0.025862	0.033537	0.007576	0.02632	1048.33	34	chr17	4558172	.	G	A	1048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.939;DP=743;ExcessHet=0;FS=2.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.662;SOR=1.055	GT:AD:DP:GQ:PL	0/1:30,37:67:99:1062,0,837	18	0	1	0
chr17	4817149	4817149	A	G	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon17:c.A1705G:p.T569A,PLD2:NM_002663:exon17:c.A1705G:p.T569A	.	419	1085	18	0	0	18	0.00822669	.	.	.	755916	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.00592412599397	0.0007	0.00199681	0.0019	0.0005	0.0007	0	0.0041	0.0012	0.0033	0.0067	0.0017788	275	154602	rs137971062	0.0016	0.0017	0.0015	0.0018	0.0090	0.0016	0.0016	0.0071	0.0064	0.0001	0.0007	0.0035	0	0.0051	0.0090	0.0011	0.0027	0.0060	0.0014	0.0014	0.0013	0.0015	0.0060	0.0013	0.0012	0.0043	0.0037	0.0002	0	0.0016	0.0040	0	0.0049	0.0034	0.0012	0.0019	0.0060	0.444	0.09155	T	0.619	0.09555	T	0.001	0.07471	B	0.003	0.08700	B	0.000298	0.46274	D	0.223486	0.692358	0.30179	N	0.895	0.22405	L	1.98	0.31205	T	-0.52	0.16187	N	0.188	0.20528	-1.0537	0.13386	T	0.050	0.21339	T	10	0.008443952	0.00191	T	0.005924	0.15430	T	0.068	0.19811	.	.	0.465294738428	0.46155	0.3430681418602734	0.34219	0.135075783952	0.15223	0.470530569553	0.34753	T	0.047517	0.27747	T	-0.54391	0.00317	T	-0.551593	0.17174	T	0.0108779694914474	0.00155	T	0.69563	0.30512	T	0.13185768	0.30721	0.072045706	0.15499	0.13185768	0.30721	0.072045706	0.15498	-5.461	0.41502	T	.	.	0.067	0.04558	B	.;.;.	.;.;.	2.943240	0.39137	20.9	0.95190821469706288	0.26372	0.82474	0.41696	D	AEFBI	0.279556	0.39358	N	-0.175559590233012	0.34153	1.946061	-0.0383187549246351	0.37999	2.232655	4.46765553341721E-4	0.07004	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	2.128000	0.41668	11.229000	0.90032	0.756000	0.94297	0.979000	0.35152	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.750	0.51108	447	0.79583	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.023392	0.050000	0.025862	0.012195	0.000000	0.02632	1883.33	35	chr17	4817149	.	A	G	1883.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.057;DP=858;ExcessHet=0;FS=0.532;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-2.108;SOR=0.635	GT:AD:DP:GQ:PL	0/1:107,85:192:99:1897,0,2734	18	0	1	0
chr17	4933836	4933836	C	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	65	1432	9	3	13	28	0.00521014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	2341.82	33	chr17	4933836	.	C	*	2341.82	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.075;DP=1454;ExcessHet=0.1259;FS=1.102;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.028;MQ=59.56;MQRankSum=1.38;QD=11.1;ReadPosRankSum=-1.08;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,21:53:99:0|1:4933822_AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC_A:804,0,1216:4933822	17	0	1	1
chr17	4933876	4933915	GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	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	474	840	42	158	8	366	0.175662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	54753.0	202	chr17	4933876	.	GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	*	54753.0	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.45;DP=3217;ExcessHet=0.0499;FS=0;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.031;MQ=59.56;MQRankSum=-0.345;QD=28.99;ReadPosRankSum=0.274;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,21:46:99:1|0:4933822_AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC_A:1474,662,1225:4933822	15	0	1	3
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,25:46:46:1|0:4933822_AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC_A:610,0,46:4933822	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,25:46:46:1|0:4933822_AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCC_A:610,0,46:4933822	1	11	5	2
chr17	4972853	4972853	G	A	exonic	CAMTA2	.	nonsynonymous SNV	CAMTA2:NM_001171166:exon14:c.C2425T:p.R809C,CAMTA2:NM_001171168:exon14:c.C2416T:p.R806C,CAMTA2:NM_001171167:exon15:c.C2488T:p.R830C,CAMTA2:NM_015099:exon15:c.C2419T:p.R807C	.	430	1089	2	1	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.133203835678	0.0004	0.00139776	0.0007	0.0005	0.0017	0	0.0002	0.0006	0.0033	0.0010	0.0006662	103	154602	rs139511595	0.0005	0.0005	0.0004	0.0005	0.0087	0.0004	0.0004	0.0068	0.0061	0.0008	0.0019	0.0003	0	0.0001	0.0087	0.0003	0.0010	0.0009	0.0005	0.0005	0.0005	0.0006	0.0010	0.0004	0.0004	0.0006	0.0005	0.0004	0	0.0010	0	0.0002	0	0.0102	0.0006	0.0033	0.0006	0.003	0.68238	D	0.008	0.67890	D	1.0	0.90584	D	0.992	0.83170	D	0.002367	0.36688	N	0.212273	0.985629	0.40930	D	2.34	0.67151	M	-0.68	0.72568	T	-3.66	0.70553	D	0.489	0.54757	-0.1861	0.78026	T	0.384	0.74024	T	10	0.038193792	0.02222	T	0.133204	0.81557	D	0.400	0.71401	.	.	0.836484301805	0.83492	0.51863262275989	0.51786	0.965639295105	0.73164	0.501596689224	0.39051	T	0.153402	0.86168	T	-0.154647	0.27586	T	-0.0139305	0.69427	D	0.0559550473548925	0.06516	T	0.945605	0.79675	D	0.32483205	0.55044	0.21099138	0.45510	0.32483205	0.55044	0.21099138	0.45509	-7.694	0.59567	D	.	.	0.164	0.39029	B	.;.;.;.;.	.;.;.;.;.	5.229020	0.87771	29.4	0.99925511577771187	0.99042	0.41606	0.26694	N	AEFBCI	0.381497	0.46374	N	0.300129923785507	0.56156	3.779926	0.200247357838531	0.49862	3.184393	0.999977715889064	0.50053	0.740716	0.97744	0	0.702456	0.74545	0	0.0	0.00061	3	0.711	0.71501	0	.	.	4.97	3.99	0.45527	1.381000	0.33969	10.033000	0.83171	0.672000	0.70159	0.003000	0.16062	1.000000	0.68203	0.996000	0.76049	0.0:0.3449:0.6551:0.0	11.713	0.50898	550	0.72197	.;.;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	0.009063	0.010101	0.012228	0.014620	0.000000	0.008621	0.003049	0.000000	0.02632	1511.33	37	chr17	4972853	.	G	A	1511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.95;DP=801;ExcessHet=0;FS=2.337;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.16;SOR=0.959	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1525,0,1605	18	0	1	0
chr17	7421068	7421068	C	G	exonic	SPEM1	.	nonsynonymous SNV	SPEM1:NM_199339:exon3:c.C393G:p.D131E	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00281329444933	.	0.00119808	0.0004	0	0	0	0	0	0	0.0033	0.0003881	60	154602	rs544110406	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0003	1.799e-06	0.0001	0.0038	0.0001	0.0001	7.708e-05	0.0002	0.0041	9.142e-05	7.699e-05	0.0027	0.0023	0	0	0	0	0	0	0	1.47e-05	0	0.0041	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.862	0.61339	P	0.002242	0.36929	N	0.117394	1	0.08975	N	1.495	0.37439	L	.	.	.	-2.67	0.57110	D	0.282	0.31925	-1.0465	0.15389	T	0.097	0.36471	T	9	0.0072458386	0.00165	T	0.002813	0.05869	T	0.101	0.28911	0.27	0.21893	0.17948927462	0.17512	0.0351213433324631	0.03459	0.570573104632	0.53213	0.404176592827	0.25649	T	0.504916	0.82379	D	-0.271271	0.11615	T	-0.162958	0.58085	T	0.170429248657053	0.18609	T	.	.	.	0.33833203	0.56146	0.33810577	0.59592	0.33833203	0.56146	0.33810577	0.59592	-3.38	0.14788	T	.	.	0.383	0.58622	A	.	.	2.367953	0.30382	18.42	0.99558548293148097	0.71645	0.13242	0.17745	N	AEFDBI	0.059555	0.11256	N	-0.25322307867832	0.30974	1.732309	-0.365903499744106	0.26021	1.434674	8.77893951803576E-5	0.04703	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.77	-0.707	0.10679	-0.057000	0.11726	-0.277000	0.10300	-0.180000	0.10397	0.132000	0.23378	0.000000	0.08366	0.535000	0.29822	0.0:0.4527:0.1416:0.4058	5.367	0.15419	262	0.89730	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	967.33	33	chr17	7421068	.	C	G	967.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=701;ExcessHet=0;FS=1.11;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=-0.239;SOR=0.456	GT:AD:DP:GQ:PL	0/1:23,32:55:99:981,0,682	18	0	1	0
chr17	7436563	7436563	G	T	exonic	TMEM102	.	nonsynonymous SNV	TMEM102:NM_001320444:exon2:c.G584T:p.S195I,TMEM102:NM_178518:exon3:c.G584T:p.S195I	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0193073618394	7.7e-05	0.00139776	0.0007	0	0	0.0001	0	0.0002	0	0.0040	0.0005886	91	154602	rs141257669	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	2.987e-05	2.236e-05	3.826e-05	0	5.632e-05	0.0007	0.0002	0.0003	0.0046	0.0003	0.0003	0.0002	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	2.405e-05	0	6.533e-05	0	0	0	0	0.0003	0	0.0050	0.022	0.48642	D	0.039	0.51112	D	0.047	0.21998	B	0.017	0.18140	B	0.434760	0.04725	N	1.333950	1	0.08975	N	1.1	0.28011	L	0.84	0.47477	T	0.33	0.03889	N	0.099	0.11197	-0.9817	0.34608	T	0.096	0.36107	T	10	0.0027632415	0.00043	T	0.019307	0.41638	T	0.015	0.02232	.	.	0.218112801441	0.21410	0.214915129252313	0.21407	.	.	0.233794212341	0.02260	T	0.003231	0.02636	T	-0.556837	0.00265	T	-0.572094	0.15259	T	0.0130386946298498	0.00227	T	.	.	.	0.1353944	0.31424	0.05465924	0.09443	0.1353944	0.31424	0.05465924	0.09443	-5.857	0.45067	T	.	.	0.106	0.19919	B	.;.	.;.	1.236927	0.16323	12.46	0.95449092448098494	0.26966	0.07728	0.13729	N	ALL	0.056827	0.10537	N	-1.09987454326042	0.06646	0.3065273	-1.16062008243892	0.06579	0.3171468	0.999999999921669	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.3	-1.6	0.07977	0.252000	0.18046	1.109000	0.24140	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4415:0.1477:0.4109:0.0	5.041	0.13797	301	0.87912	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2945.33	39	chr17	7436563	.	G	T	2945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.092;DP=829;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.781;SOR=0.707	GT:AD:DP:GQ:PL	0/1:80,103:183:99:2959,0,2257	18	0	1	0
chr17	7626514	7626514	G	A	exonic	SAT2	.	nonsynonymous SNV	SAT2:NM_001320846:exon5:c.C581T:p.T194M,SAT2:NM_001320847:exon5:c.C344T:p.T115M,SAT2:NM_001320845:exon6:c.C683T:p.T228M,SAT2:NM_133491:exon6:c.C446T:p.T149M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0521486200565	.	.	2.471e-05	0	0.0002	0	0.0002	0	0	0	2.59e-05	4	154602	rs774305138	3.078e-05	3.078e-05	2.586e-05	3.575e-05	0.0001	2.347e-05	2.095e-05	3.348e-05	1.981e-05	2.987e-05	6.708e-05	0	0.0001	1.872e-05	0	2.968e-05	1.656e-05	2.319e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.555e-05	0	0.0002	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000003	0.62929	D	0.102374	0.999943	0.81001	D	3.55	0.93268	H	0.95	0.43279	T	-3.99	0.73893	D	0.68	0.73465	-0.3601	0.73260	T	0.300	0.67111	T	10	0.6674231	0.70510	D	0.052149	0.64951	D	0.383	0.70029	0.362	0.36711	0.475272412942	0.47157	0.5701939509739605	0.56947	1.16460324479	0.79582	0.483010947704	0.36471	T	0.072834	0.36107	T	-0.00750186	0.50613	T	-0.0515809	0.66914	D	0.943543097026935	0.61881	D	0.944706	0.80929	D	0.5450804	0.69681	0.48715168	0.70320	0.5450804	0.69682	0.48715168	0.70321	-11.263	0.81081	D	.	.	0.471	0.63219	A	.;.	.;.	4.800886	0.77998	26.8	0.9989427228709713	0.96742	0.95931	0.66774	D	AEFDGBI	0.819733	0.74068	D	0.737748468028319	0.82104	7.681124	0.631194361250947	0.77217	6.636995	0.999999971881177	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.2	4.2	0.48814	7.002000	0.76057	8.504000	0.77368	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.539000	0.29915	0.0:0.1813:0.8187:0.0	11.445	0.49361	561	0.71236	GNAT domain;GNAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1534.33	33	chr17	7626514	.	G	A	1534.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=744;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.749;SOR=0.539	GT:AD:DP:GQ:PL	0/1:46,59:105:99:1548,0,996	18	0	1	0
chr17	7848827	7848827	G	A	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon11:c.G2539A:p.A847T,KDM6B:NM_001348716:exon11:c.G2539A:p.A847T	.	1	1517	3	1	0	5	0.00164528	.	.	.	3205602	KDM6B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.140	0.0482522577001	.	0.000998403	0.0007	0	8.772e-05	0	0	1.596e-05	0	0.0048	0.0005433	84	154602	rs544407908	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	0	2.236e-05	0	0	0	0.0010	2.608e-05	0.0001	0.0052	0.0002	0.0002	7.726e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0033	0	0	0	0	0	0	0	0	0	0.0054	0.092	0.32141	T	0.582	0.08594	T	0.001	0.07471	B	0.001	0.04355	B	0.897280	0.07333	N	1.055200	1	0.08975	N	0.205	0.09354	N	-1.07	0.76948	T	0.32	0.03955	N	0.106	0.10056	-0.9653	0.38151	T	0.177	0.52209	T	10	0.0033332407	0.00058	T	0.048252	0.63291	D	0.140	0.37593	0.087	0.00904	0.134007934775	0.12933	0.2295089003985971	0.22865	0.155533822326	0.17554	0.578709959984	0.49904	T	0.054683	0.29794	T	-0.570583	0.00220	T	-0.591013	0.13578	T	0.00383810070956716	0.00041	T	0.513049	0.16451	T	0.038884282	0.05266	0.04700208	0.06676	0.038884282	0.05266	0.04700208	0.06676	-3.929	0.22738	T	.	.	0.072	0.08129	B	.;.	.;.	1.480569	0.19059	14.07	0.85471709495936921	0.15914	0.03543	0.08739	N	AEFDBI	0.033263	0.03911	N	-1.5199133152869	0.01718	0.07523048	-1.50239187449609	0.02326	0.1067976	0.390753064573644	0.20044	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.47	-1.56	0.08080	0.532000	0.22776	2.355000	0.32337	-0.959000	0.01990	0.008000	0.17931	0.873000	0.27615	0.062000	0.16114	0.2904:0.3249:0.3846:0.0	4.254	0.10159	298	0.88068	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1006.33	33	chr17	7848827	.	G	A	1006.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.567;DP=773;ExcessHet=0;FS=3.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.027;SOR=0.733	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1020,0,1366	18	0	1	0
chr17	12744412	12744412	T	C	exonic	MYOCD	.	nonsynonymous SNV	MYOCD:NM_001146312:exon8:c.T947C:p.L316P,MYOCD:NM_153604:exon8:c.T947C:p.L316P,MYOCD:NM_001378306:exon9:c.T710C:p.L237P	.	400	1118	4	0	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	0.0010	0.01877	0.0155	0.0022	0.0639	0.0459	0	0.0014	0.0069	0.0389	0.0115199	1781	154602	rs76490220	0.0057	0.0057	0.0051	0.0062	0.0433	0.0056	0.0055	0.0417	0.0410	0.0010	0.0433	0	0.0263	3.748e-05	0.0024	0.0017	0.0077	0.0335	0.0064	0.0064	0.0060	0.0069	0.0375	0.0061	0.0059	0.0332	0.0315	0.0012	0	0.0290	0	0.0375	0	0	0.0017	0.0071	0.0323	0.495	0.11550	T	0.279	0.22223	T	0.0	0.02946	B	0.0	0.01387	B	0.007684	0.31251	N	0.337436	0.526855	0.31943	D	-2.705	0.00032	N	0.87	0.46412	T	2.56	0.00234	N	0.111	0.18784	-1.0703	0.09348	T	0.006	0.01981	T	10	0.0013025403	0.00014	T	.	.	.	0.088	0.25558	.	.	.	.	0.1437178207073558	0.14294	0.118940625462	0.13400	0.332306563854	0.15283	T	0.158223	0.50115	T	-0.633	0.00092	T	-0.638015	0.09815	T	0.00990134470379028	0.00131	T	0.0153985	0.00132	T	0.14492136	0.33244	0.16439006	0.38084	0.22008693	0.44556	0.16439006	0.38084	-2.992	0.10831	T	0.02404654368365607	0.00020	0.039	0.00012	B	.;.;.	.;.;.	1.515418	0.19464	14.28	0.85335163168871686	0.15829	0.00888	0.03496	N	ALL	0.041969	0.06451	N	-0.981435183900454	0.09000	0.4242057	-0.783055168872451	0.14910	0.7815568	0.99566907297825	0.34254	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	5.12	4.14	0.47821	1.469000	0.34952	4.114000	0.41935	-0.175000	0.10903	0.033000	0.20612	0.859000	0.27469	0.988000	0.63387	0.1561:0.7644:0.0:0.0795	8.933	0.34842	949	0.11373	.;.;.	.	.	.	.	.	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	0.005539	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.026515	0.02632	1553.33	42	chr17	12744412	.	T	C	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.76;DP=831;ExcessHet=0;FS=5.456;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.97;SOR=0.38	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1567,0,1926	18	0	1	0
chr17	16058022	16058022	C	T	exonic	NCOR1	.	nonsynonymous SNV	NCOR1:NM_001190440:exon38:c.G5744A:p.R1915Q,NCOR1:NM_006311:exon39:c.G6053A:p.R2018Q	.	.	.	.	.	.	.	.	.	.	.	3347757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.0323694255703	.	.	6.596e-05	0	0.0002	0	0	1.5e-05	0	0.0003	9.7e-05	15	154602	rs200722329	0.0001	0.0001	0.0001	0.0001	0.0013	9.266e-05	8.731e-05	0.0010	0.0010	0.0001	0.0013	0	2.519e-05	0	0.0002	3.417e-05	0.0002	0.0005	0.0005	0.0006	0.0004	0.0007	0.0051	0.0005	0.0004	0.0042	0.0039	4.819e-05	0	0.0051	0	0	0	0	0	0.0005	0.0004	0.007	0.59928	D	0.156	0.67890	T	0.999	0.77913	D	0.978	0.76113	D	0.000001	0.62929	D	0.057697	1	0.81001	D	2.175	0.60977	M	0.88	0.46028	T	-2.76	0.61580	D	0.698	0.79118	-0.7452	0.58185	T	0.247	0.61658	T	10	0.24378839	0.41599	T	0.032369	0.54212	D	0.176	0.44373	0.176	0.08257	0.712798973876	0.71028	0.5988699406493202	0.59817	1.03009341363	0.75405	0.414899051189	0.27134	T	0.864786	0.97029	D	-0.170611	0.25143	T	-0.0583804	0.66446	T	0.166976645848132	0.18371	T	0.945605	0.79272	D	0.3068724	0.53514	0.22595881	0.47558	0.3068724	0.53514	0.22595881	0.47557	-3.309	0.19806	T	.	.	0.159	0.35225	B	.;.;.	.;.;.	4.810941	0.78262	26.9	0.98949580800074066	0.49112	0.98730	0.86119	D	AEFBI	0.878675	0.80410	D	0.582542554961281	0.72084	5.750577	0.536241634790333	0.70448	5.506449	0.999999902753299	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	5.639000	0.67541	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.165000	0.20815	0.0:1.0:0.0:0.0	19.184	0.93620	229	0.91079	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	760.33	33	chr17	16058022	.	C	T	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.438;DP=682;ExcessHet=0;FS=4.812;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.891;SOR=1.212	GT:AD:DP:GQ:PL	0/1:33,34:67:99:774,0,795	18	0	1	0
chr17	27781158	27781158	G	T	exonic	NOS2	.	nonsynonymous SNV	NOS2:NM_000625:exon8:c.C742A:p.P248T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.0930175520604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-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	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.465	0.92394	M	1.18	0.37746	T	-7.4	0.94758	D	0.881	0.89020	-0.0857	0.80425	T	0.351	0.71518	T	10	0.92414	0.91764	D	0.093018	0.75997	D	0.686	0.88538	0.768	0.89530	0.651368938621	0.64847	0.7543400172518011	0.75381	1.32488247794	0.83530	0.804112195969	0.82591	D	0.377127	0.74037	T	0.308527	0.83635	D	0.205401	0.83424	D	0.997575223445892	0.91888	D	0.961404	0.97335	D	0.8748188	0.89246	0.7922316	0.87784	0.8748188	0.89247	0.7922316	0.87785	-11.066	0.80019	D	.	.	0.629	0.73772	P	.;.;.	.;.;.	5.000973	0.82982	27.9	0.99716503320974548	0.81703	0.96517	0.69535	D	AEFDBCI	0.913801	0.87629	D	1.071306748593	0.97566	16.35127	1.0019701645641	0.98665	18.96326	0.999999988157218	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	10.003000	0.99689	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.513	0.90873	184	0.92813	Nitric oxide synthase, N-terminal;Nitric oxide synthase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1668.33	33	chr17	27781158	.	G	T	1668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.437;DP=812;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.186;SOR=1.008	GT:AD:DP:GQ:PL	0/1:49,61:110:99:1682,0,1206	18	0	1	0
chr17	28959147	28959147	T	A	exonic	SEZ6	.	nonsynonymous SNV	SEZ6:NM_001098635:exon10:c.A1985T:p.Y662F,SEZ6:NM_001290202:exon10:c.A1610T:p.Y537F,SEZ6:NM_178860:exon10:c.A1985T:p.Y662F	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.007707941295	.	0.00159744	0.0009	0.0001	0	0	0	0	0.0023	0.0065	0.0007568	117	154602	rs374943299	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0060	0.0059	5.974e-05	0	0	0	0	0.0005	8.095e-06	0.0005	0.0065	0.0002	0.0002	7.71e-05	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	2.407e-05	0	0	0	0	0	0	0	0.0005	0.0062	0.419	0.09866	T	0.175	0.30339	T	0.996	0.68779	D	0.877	0.62241	P	0.000007	0.62929	D	0.000000	0.999324	0.81001	D	0.825	0.20901	L	2.29	0.17113	T	-2.15	0.48687	N	0.494	0.52740	-1.1185	0.02428	T	0.052	0.21999	T	10	0.011517078	0.00251	T	0.007708	0.20457	T	0.189	0.46613	0.678	0.81594	0.460438652622	0.45667	0.33188800359192644	0.33101	0.81317789327	0.66827	0.648118019104	0.59719	T	0.013957	0.32963	T	-0.45781	0.01014	T	-0.426104	0.30377	T	0.0734362730087474	0.09124	T	0.893711	0.66542	D	0.17100511	0.37708	0.08246202	0.18822	0.14914078	0.34014	0.10063566	0.24068	-8.857	0.66771	D	.	.	0.083	0.11797	B	.;.;.;.;.	.;.;.;.;.	4.700876	0.75423	26.3	0.98514131179259834	0.42386	0.95705	0.65805	D	AEFDBI	0.687980	0.64914	D	0.408046504631829	0.61862	4.393378	0.443484859860204	0.64301	4.682004	0.988393243178997	0.31502	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	4.903000	0.62964	4.057000	0.41556	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1801:0.0:0.0:0.8199	8.081	0.29908	298	0.88068	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2191.33	35	chr17	28959147	.	T	A	2191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=778;ExcessHet=0;FS=14.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-1.454;SOR=0.195	GT:AD:DP:GQ:PL	0/1:60,78:138:99:2205,0,1648	18	0	1	0
chr17	32288819	32288819	C	T	exonic	RHBDL3	.	nonsynonymous SNV	RHBDL3:NM_001363834:exon2:c.C139T:p.R47C,RHBDL3:NM_001330181:exon3:c.C298T:p.R100C,RHBDL3:NM_001363835:exon4:c.C322T:p.R108C,RHBDL3:NM_001363836:exon4:c.C28T:p.R10C,RHBDL3:NM_138328:exon4:c.C322T:p.R108C	.	426	1094	1	1	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.0609019533578	.	.	8.627e-05	0	0.0001	0	0	3.443e-05	0.0013	0.0003	5.82e-05	9	154602	rs765501029	4.928e-05	4.925e-05	3.405e-05	6.467e-05	0.0005	3.995e-05	3.671e-05	0.0001	8.651e-05	2.99e-05	0	0	5.041e-05	0	0.0005	4.228e-05	6.628e-05	0.0002	3.282e-05	3.281e-05	3.854e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0004	0.013	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	-0.37	0.68892	T	-4.94	0.81835	D	0.937	0.94314	-0.2181	0.77201	T	0.453	0.78632	T	10	0.73015594	0.74243	D	0.060902	0.68156	D	0.465	0.76089	0.545	0.65873	0.92382537496	0.92305	0.6707457618333191	0.67012	1.02830112022	0.75345	0.82300388813	0.85489	D	0.118408	0.49958	T	0.125581	0.66929	D	0.238804	0.85094	D	0.651712536811829	0.38535	D	0.976102	0.95453	D	0.5033562	0.67291	0.3997054	0.64526	0.5033562	0.67292	0.3997054	0.64526	-9.814	0.72790	D	.	.	0.399	0.67030	A	.;.;.;.	.;.;.;.	6.580935	0.95436	35	0.99941561044266847	0.99797	0.97814	0.77329	D	AEFDBIJ	0.829989	0.74879	D	0.715067869389913	0.80619	7.334778	0.725371541369525	0.84305	8.25515	1.0	0.98316	0.75658	0.98901	0	0.610034	0.51514	0	0.858454	0.99976	0	0.526803	0.08958	0	.	.	5.69	5.69	0.88346	5.731000	0.68201	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.801	0.96504	950	0.11238	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	705.33	36	chr17	32288819	.	C	T	705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.33;SOR=0.693	GT:AD:DP:GQ:PL	0/1:23,23:46:99:719,0,636	18	0	1	0
chr17	35180654	35180654	G	A	exonic	UNC45B	.	nonsynonymous SNV	UNC45B:NM_001308281:exon15:c.G2114A:p.C705Y,UNC45B:NM_173167:exon17:c.G2357A:p.C786Y,UNC45B:NM_001033576:exon18:c.G2351A:p.C784Y,UNC45B:NM_001267052:exon18:c.G2351A:p.C784Y	.	414	1103	5	0	0	5	0.00226142	.	.	.	1225676	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.745	.	0.0030	0.023762	0.0107	0.0069	0.0011	0.0193	0	0.0005	0.0100	0.0604	0.0095406	1475	154602	rs76329788	0.0047	0.0047	0.0034	0.0060	0.0533	0.0046	0.0046	0.0520	0.0515	0.0085	0.0012	0.0012	0.0232	1.873e-05	0.0044	0.0004	0.0073	0.0533	0.0053	0.0053	0.0041	0.0065	0.0605	0.0050	0.0048	0.0548	0.0526	0.0072	0	0.0022	0.0012	0.0269	0	0.0068	0.0003	0.0033	0.0605	0.002	0.78490	D	0.001	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	0.76	0.49919	T	-7.37	0.94674	D	0.355	0.80866	-0.1760	0.78281	T	0.254	0.62383	T	10	0.011082709	0.00244	T	.	.	.	0.745	0.91198	.	.	.	.	0.7840028117147326	0.78351	0.612468718494	0.55841	0.8425822258	0.88488	D	0.714647	0.91887	D	-0.0442878	0.45310	T	0.206102	0.83460	D	0.0627514069092242	0.07595	T	0.90211	0.65873	D	0.85159445	0.87454	0.9096035	0.95660	0.8794055	0.89619	0.9096035	0.95661	-9.826	0.74835	D	0.8571586178088251	0.92168	0.959	0.87984	P	.;.;.	.;.;.	5.024228	0.83521	28.1	0.99784401922960819	0.87043	0.98847	0.87641	D	AEFBI	0.963432	0.98532	D	0.971332894453595	0.94793	13.04486	0.901363871209942	0.95632	13.810	0.99999952678046	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	9.869000	0.98464	11.597000	0.93447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.734	0.88294	907	0.22727	.;.;.	.	.	.	.	.	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	0.009082	0.015152	0.010870	0.005848	0.000000	0.008621	0.000000	0.018939	0.02632	1029.33	33	chr17	35180654	.	G	A	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.573;DP=720;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.699;SOR=0.537	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1043,0,1764	18	0	1	0
chr17	37744812	37744812	C	A	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon1:c.G73T:p.V25L,HNF1B:NM_001165923:exon1:c.G73T:p.V25L,HNF1B:NM_001304286:exon1:c.G73T:p.V25L	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	YES	45513	not_specified|Maturity_onset_diabetes_mellitus_in_young|Nonpapillary_renal_cell_carcinoma|not_provided|Renal_cysts_and_diabetes_syndrome	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MedGen:C3661900|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.491	.	0.0002	0.00798722	0.0054	0	0	0.0003	0	0.0002	0.0023	0.0378	0.0045472	703	154602	rs139107479	0.0022	0.0022	0.0013	0.0031	0.0335	0.0021	0.0021	0.0325	0.0320	0.0001	0.0001	0.0033	2.519e-05	0	0.0016	4.227e-05	0.0026	0.0335	0.0013	0.0013	0.0007	0.0018	0.0352	0.0011	0.0011	0.0309	0.0292	0.0001	0	0	0.0029	0.0004	0	0	4.411e-05	0.0005	0.0352	.	.	.	0.328	0.21343	T	0.505	0.37231	P	0.224	0.37970	B	0.000005	0.62929	D	0.061959	0.999733	0.48635	D	1.12	0.28775	L	.	.	.	.	.	.	0.143	0.23758	0.822	0.94679	D	0.863	0.95424	D	10	0.008750111	0.00198	T	.	.	.	.	.	0.631	0.76699	0.363734036182	0.35979	0.4184153378697141	0.41757	.	.	0.540789604187	0.44557	T	0.725476	0.92274	D	-0.382514	0.03004	T	-0.295772	0.45168	T	0.0286651391693961	0.01786	T	.	.	.	0.28545466	0.51566	0.3965339	0.64292	0.33086795	0.55542	0.47141975	0.69353	-6.814	0.52678	T	.	.	0.144	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.494622	0.48858	22.7	0.99204724568989155	0.55381	0.85212	0.44325	D	AEFDGBCI	0.634126	0.61412	D	-0.155822337058122	0.34987	2.003985	-0.0554235161108831	0.37256	2.178949	1.0	0.98316	0.59774	0.34471	0	0.552344	0.17405	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.07	5.07	0.68106	0.861000	0.27540	5.992000	0.52347	0.599000	0.40250	0.025000	0.20085	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.614	0.87963	128	0.94857	Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal;Hepatocyte nuclear factor 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.015267	0.05263	2118.83	39	chr17	37744812	.	C	A	2118.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.439;DP=753;ExcessHet=0.119;FS=2.794;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.353;SOR=0.556	GT:AD:DP:GQ:PL	0/1:34,43:77:99:1198,0,1052	17	0	2	0
chr17	39665718	39665718	G	T	exonic	TCAP	.	nonsynonymous SNV	TCAP:NM_003673:exon2:c.G113T:p.C38F	Cardiomyopathy, hypertrophic, 25, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2G, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	198471	not_specified|Cardiovascular_phenotype|Primary_familial_hypertrophic_cardiomyopathy|Hypertrophic_cardiomyopathy_25|Hypertrophic_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2G|not_provided	MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MONDO:MONDO:0011843,MedGen:C4225408,OMIM:607487|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011170,MedGen:C1866008,OMIM:601954,Orphanet:34514|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.637	0.158703312849	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0	0	0.00011	17	154602	rs375310569	0.0001	0.0001	0.0001	8.834e-05	0.0047	8.742e-05	8.227e-05	0.0033	0.0028	8.969e-05	0.0002	0	2.523e-05	0	0.0047	9.184e-05	8.305e-05	0	7.224e-05	7.218e-05	7.71e-05	6.715e-05	0.0002	3.969e-05	3.126e-05	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0.0034	7.353e-05	0.0009	0	0.523	0.07187	T	0.397	0.15157	T	0.988	0.62325	D	0.898	0.63708	P	0.000009	0.62929	D	0.122062	0.999991	0.58761	D	2.125	0.59049	M	-2.36	0.88143	D	-5.08	0.82896	D	0.296	0.48227	0.367	0.88593	D	0.674	0.88714	D	10	0.4545699	0.58909	T	0.158703	0.83904	D	0.637	0.86130	.	.	0.974897511524	0.97462	0.3451868843676257	0.34432	1.17954550711	0.79986	0.476928323507	0.35634	T	0.816411	0.95465	D	-0.0433708	0.45447	T	0.00164578	0.70442	D	0.374176114797592	0.27959	T	0.731927	0.34732	T	0.56536424	0.70806	0.5012083	0.71164	0.56536424	0.70807	0.5012083	0.71165	-3.397	0.15016	T	0.18647059994476767	0.24273	0.156	0.39664	B	.;.	.;.	4.210710	0.63609	24.6	0.84880132744283354	0.15552	0.87571	0.47154	D	AEFDGBHCI	0.927577	0.91046	D	0.403266126143953	0.61602	4.363518	0.429661888079662	0.63419	4.575476	0.999999999999735	0.74766	0.62174	0.39705	0	0.759151	0.99529	0	0.584781	0.30282	0	0.599892	0.37169	0	.	.	5.71	5.71	0.89031	2.978000	0.48996	8.639000	0.77885	0.676000	0.76740	0.960000	0.33603	1.000000	0.68203	0.206000	0.22070	0.0:0.0:1.0:0.0	18.616	0.91258	632	0.64850	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005247	0.000000	0.001362	0.023179	0.000000	0.008772	0.000000	0.000000	0.05263	1392.83	44	chr17	39665718	.	G	T	1392.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.522;DP=769;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.339;SOR=0.648	GT:AD:DP:GQ:PL	0/1:29,18:47:99:490,0,899	17	0	2	0
chr17	40016618	40016618	C	T	exonic	CSF3	.	nonsynonymous SNV	CSF3:NM_001178147:exon3:c.C329T:p.T110I,CSF3:NM_172220:exon3:c.C338T:p.T113I,CSF3:NM_000759:exon4:c.C446T:p.T149I,CSF3:NM_172219:exon4:c.C437T:p.T146I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0159876909078	.	.	0.0001	0	0	0	0	7.541e-05	0.0011	0.0005	9.7e-05	15	154602	rs772466210	5.678e-05	5.678e-05	3.267e-05	8.113e-05	0.0014	4.676e-05	4.301e-05	0.0007	0.0005	0	0	0	2.519e-05	0	0.0014	1.439e-05	0.0001	0.0006	2.627e-05	2.626e-05	1.284e-05	4.033e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.939e-05	0	0.0002	0.018	0.61437	D	0.015	0.63109	D	0.872	0.51527	P	0.721	0.54900	P	0.014799	0.28429	N	0.376195	0.804062	0.34550	D	1.7	0.43825	L	2.33	0.16492	T	-4.34	0.79316	D	0.323	0.38643	-0.9795	0.35117	T	0.069	0.28147	T	10	0.19704825	0.35621	T	0.015988	0.37021	T	0.083	0.24192	.	.	0.684972698341	0.68228	0.27778074161041727	0.27691	0.970847484119	0.73358	0.341213047504	0.16619	T	0.465741	0.80076	T	-0.423432	0.01627	T	-0.535489	0.18741	T	0.441230833530426	0.30474	T	0.809719	0.46038	T	0.38148955	0.59424	0.33007488	0.58880	0.38148955	0.59425	0.33007488	0.58880	-3.863	0.22828	T	.	.	0.428	0.63656	A	.;.;.;.;.;.	.;.;.;.;.;.	3.134048	0.42357	21.5	0.99842313736161348	0.92229	0.51595	0.28932	D	AEFDBHI	0.182198	0.30953	N	0.296050000202634	0.55947	3.758955	0.280908305161641	0.54425	3.607561	0.999999657656645	0.74766	0.538715	0.22204	0	0.550933	0.16991	0	0.578056	0.29568	0	0.563494	0.21769	0	.	.	5.28	3.08	0.34576	1.173000	0.31529	3.102000	0.36323	0.599000	0.40250	0.751000	0.29144	0.989000	0.31174	0.839000	0.39591	0.4397:0.5602:0.0:0.0	10.690	0.45063	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	.	.	.	.	.	.	.	.	0.02632	876.33	36	chr17	40016618	.	C	T	876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.221;DP=792;ExcessHet=0;FS=2.968;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.466;SOR=0.404	GT:AD:DP:GQ:PL	0/1:49,39:88:99:890,0,1421	18	0	1	0
chr17	42991144	42991144	A	G	exonic	RUNDC1	.	nonsynonymous SNV	RUNDC1:NM_173079:exon5:c.A1270G:p.M424V,RUNDC1:NM_001321381:exon6:c.A1276G:p.M426V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00463253059839	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs541380741	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.987e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.726	0.05238	T	0.0	0.02946	B	0.0	0.01387	B	0.420720	0.04646	N	1.280360	1	0.08975	N	0.55	0.14455	N	2.32	0.16640	T	-0.33	0.12472	N	0.011	0.00110	-0.9745	0.36235	T	0.024	0.10284	T	10	0.032116294	0.01357	T	0.004633	0.11472	T	0.001	0.00016	0.275	0.22687	0.119812018005	0.11559	0.20242667385477942	0.20159	0.418046650272	0.42406	0.214256674051	0.01005	T	0.009095	0.08305	T	-0.40527	0.02137	T	-0.819919	0.01454	T	0.0465811875712205	0.04890	T	0.210379	0.02537	T	0.027100604	0.01855	0.044786356	0.05879	0.027100604	0.01854	0.044786356	0.05879	-3.421	0.15340	T	.	.	0.056	0.00452	B	.	.	-0.789861	0.01127	0.052	0.35226220786045392	0.02199	0.07230	0.13254	N	AEFDGBI	.	.	.	-1.31079948493196	0.03551	0.1588111	-1.31549487951312	0.04229	0.1990599	0.999995182769324	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	-3.14	0.04928	-0.997000	0.03816	-0.086000	0.12117	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.3014:0.4885:0.2101:0.0	9.018	0.35341	287	0.88635	RUN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1507.33	33	chr17	42991144	.	A	G	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=748;ExcessHet=0;FS=1.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.934;SOR=0.884	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1521,0,1588	18	0	1	0
chr17	44040183	44040183	A	G	exonic	LSM12	.	nonsynonymous SNV	LSM12:NM_001369486:exon2:c.T158C:p.L53P,LSM12:NM_001369484:exon3:c.T332C:p.L111P,LSM12:NM_001369485:exon3:c.T332C:p.L111P,LSM12:NM_001371445:exon3:c.T332C:p.L111P,LSM12:NM_152344:exon4:c.T332C:p.L111P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0116894883245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.545	0.09588	T	0.0	0.02946	B	0.002	0.06944	B	0.001357	0.39310	N	0.226272	1	0.81001	D	-1.505	0.00499	N	1.69	0.27032	T	4.37	0.00040	N	0.487	0.53796	-0.9889	0.32878	T	0.021	0.08870	T	10	0.21163368	0.37597	T	0.011689	0.29566	T	0.147	0.38986	0.447	0.50629	0.043077524339	0.03247	0.4887571622117416	0.48795	0.31584860799	0.33860	0.805840671062	0.82854	D	0.006444	0.05872	T	-0.146958	0.28789	T	-0.448871	0.27821	T	0.618984561183364	0.37164	D	0.849215	0.53152	T	0.39871705	0.60643	0.43962565	0.67308	0.39871705	0.60644	0.43962565	0.67309	-3.147	0.11843	T	.	.	0.111	0.21428	B	.;.;.	.;.;.	3.344896	0.46112	22.2	0.99592376644482195	0.73690	0.96702	0.70484	D	AEFDGBI	0.901138	0.84748	D	-0.287492856006736	0.29631	1.644879	0.030949771751628	0.41161	2.468215	0.999999988701556	0.74766	0.489673	0.17934	0	0.577304	0.33150	0	0.759307	0.98198	0	0.662433	0.64102	0	.	.	5.74	5.74	0.90070	7.429000	0.79493	9.325000	0.80080	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.311	0.73742	640	0.64132	Anticodon-binding domain|Anticodon-binding domain;Anticodon-binding domain|Anticodon-binding domain;Anticodon-binding domain|Anticodon-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1115.33	33	chr17	44040183	.	A	G	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.355;DP=730;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.455;SOR=0.886	GT:AD:DP:GQ:PL	0/1:44,44:88:99:1129,0,1166	18	0	1	0
chr17	46875363	46875363	C	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon3:c.C597G:p.I199M,WNT9B:NM_003396:exon3:c.C597G:p.I199M	.	.	.	.	.	.	.	.	.	.	.	3060952	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.215	0.0319682600556	.	.	4.188e-05	0	0	0	0	7.304e-05	0	0	3.23e-05	5	154602	rs762405316	3.25e-05	3.215e-05	3.429e-05	3.068e-05	0.0002	2.505e-05	2.245e-05	2.768e-05	2.491e-05	0	2.276e-05	3.958e-05	0	0	0.0002	3.721e-05	5.03e-05	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	0.137	0.28520	T	0.089	0.40426	T	0.689	0.41609	P	0.241	0.38645	B	0.000019	0.62929	N	0.149471	0.999961	0.52935	D	1.26	0.31868	L	-0.97	0.75670	T	-0.12	0.17624	N	0.388	0.42931	-0.6627	0.62157	T	0.249	0.61889	T	10	0.30080482	0.47626	T	0.031968	0.53918	D	0.215	0.50805	0.763	0.89133	0.750264353821	0.74800	0.5565367754235949	0.55580	0.863038074097	0.69047	0.619561910629	0.55668	T	0.430845	0.77917	T	-0.206474	0.19879	T	-0.345911	0.39673	T	0.077938475095964	0.09721	T	.	.	.	0.11567414	0.27292	0.12289851	0.29641	0.11567414	0.27292	0.12289851	0.29640	-7.46	0.57329	T	.	.	0.146	0.33846	B	.;.	.;.	2.487068	0.32083	18.93	0.99267213885543992	0.57423	0.87747	0.47392	D	AEFGBI	0.355404	0.44715	N	-0.254603998511002	0.30920	1.728702	-0.162938819422258	0.32914	1.877315	0.0111634617967663	0.12141	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.91	2.85	0.32333	0.974000	0.29033	0.751000	0.21237	-0.273000	0.06669	1.000000	0.71638	0.999000	0.35428	0.963000	0.52385	0.1401:0.6497:0.1355:0.0746	5.834	0.17852	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1062.33	34	chr17	46875363	.	C	G	1062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=726;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-2.319;SOR=0.449	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1076,0,942	18	0	1	0
chr17	53823685	53823685	G	A	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.G652A:p.V218M	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.00868367391528	0.0002	0.000399361	0.0011	0	0.0003	0	0	0.0003	0.0022	0.0068	0.0009314	144	154602	rs372615987	0.0006	0.0006	0.0004	0.0007	0.0060	0.0005	0.0005	0.0056	0.0054	8.961e-05	6.708e-05	0	2.519e-05	0	0.0029	0.0002	0.0009	0.0060	0.0004	0.0004	0.0004	0.0005	0.0060	0.0003	0.0003	0.0043	0.0037	2.404e-05	0	0.0003	0	0	0	0.0068	0.0004	0.0005	0.0060	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.972	0.72692	D	0.010146	0.30045	N	0.153038	0.871943	0.35580	D	4.08	0.97210	H	1.75	0.26152	T	-2.89	0.60665	D	0.525	0.55453	-0.0588	0.81019	T	0.279	0.65129	T	10	0.026045382	0.00781	T	0.008684	0.22927	T	0.311	0.63269	.	.	0.552656131934	0.54924	0.4509889434292239	0.45016	0.507607720466	0.48939	0.662219524384	0.61727	T	0.254636	0.62532	T	-0.219968	0.17996	T	-0.0862717	0.64441	T	0.206364495462122	0.20762	T	0.941606	0.78180	D	0.48744735	0.66350	0.54919016	0.73936	0.48744735	0.66351	0.54919016	0.73936	-10.377	0.76137	D	.	.	0.394	0.59222	A	.	.	4.747517	0.76619	26.5	0.99899468729775065	0.97199	0.93985	0.59767	D	AEFDBCI	0.604161	0.59536	D	1.02732481445749	0.96524	14.80165	0.920934470804943	0.96422	14.677	0.0311067499757519	0.13983	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	5.37	0.76949	5.027000	0.63888	5.897000	0.50837	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0827:0.0:0.9173:0.0	12.094	0.53042	894	0.26265	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.007576	0.05263	6860.83	228	chr17	53823685	.	G	A	6860.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.94;DP=3290;ExcessHet=0.119;FS=1.104;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=1.12;SOR=0.682	GT:AD:DP:GQ:PL	0/1:127,143:270:99:3818,0,3054	17	0	2	0
chr17	58156067	58156067	T	C	exonic	OR4D1	.	nonsynonymous SNV	OR4D1:NM_012374:exon1:c.T914C:p.L305P	.	435	1070	16	1	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00784282127995	0.0002	0.000399361	0.0004	0	0.0005	0	0	0.0004	0.0013	0.0009	0.0002975	46	154602	rs202247369	0.0003	0.0003	0.0002	0.0003	0.0033	0.0003	0.0002	0.0022	0.0018	0	0.0004	0.0031	2.521e-05	1.919e-05	0.0033	0.0001	0.0007	0.0009	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0	0	0.0005	0.0020	0	0	0	0.0003	0.0005	0.0006	0.024	0.47745	D	0.079	0.42086	T	0.011	0.15914	B	0.01	0.14941	B	0.360896	0.13672	N	0.645667	0.999942	0.19238	N	1.585	0.39878	L	1.11	0.38883	T	-1.73	0.41046	N	0.176	0.18920	-1.0915	0.05286	T	0.055	0.23224	T	10	0.008800685	0.00199	T	0.007843	0.20798	T	0.126	0.34673	.	.	0.465209535841	0.46147	0.16960518967493005	0.16880	0.13878671293	0.15652	0.280712157488	0.07591	T	0.005607	0.05061	T	-0.488825	0.00660	T	-0.543762	0.17928	T	0.0223602982127205	0.00950	T	0.128487	0.01008	T	0.13740587	0.31817	0.12155279	0.29328	0.13740587	0.31817	0.12155279	0.29327	-4.957	0.36370	T	.	.	0.113	0.23148	B	.;.	.;.	1.082805	0.14659	11.21	0.90152237599545137	0.19431	0.06084	0.12058	N	AEFDBI	0.091788	0.18588	N	-0.807365655364013	0.13121	0.6442271	-0.761704709625642	0.15435	0.8117664	0.0219853058270617	0.13394	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.11	3.99	0.45527	-0.439000	0.06967	-2.802000	0.03346	-0.379000	0.05400	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1069:0.2098:0.6832	4.231	0.10056	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1464.33	36	chr17	58156067	.	T	C	1464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.37;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.412;SOR=0.708	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1478,0,1518	18	0	1	0
chr17	62690670	62690670	T	G	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon27:c.T3921G:p.D1307E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0193579585971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0068	0.0009	0.0008	0.0012	0.0008	0.0008	0.0009	0.0009	0.0012	4.518e-05	0.0006	0.0008	0.0007	0.0007	0.0010	0.0009	0.0004	9.889e-05	0.0002	6.449e-05	0.0001	0.0002	6.026e-05	4.895e-05	1.174e-05	6.26e-06	4.824e-05	0	0	0.0003	0	0.0007	0	4.423e-05	0.0005	0.0002	0.048	0.40068	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999509	0.47320	D	2.81	0.81869	M	3.0	0.09167	T	-2.97	0.66549	D	0.849	0.84505	-1.1741	0.00464	T	0.061	0.25492	T	10	0.72397023	0.73849	D	0.019358	0.41701	T	0.232	0.53354	0.483	0.56462	0.428715581845	0.42488	.	.	1.15799816687	0.79397	0.736789047718	0.72500	T	0.405926	0.76197	T	0.0258373	0.55166	T	-0.200663	0.54583	T	0.973690986633301	0.70201	D	0.846715	0.59112	T	0.29941264	0.52852	0.21828814	0.46526	0.29941264	0.52852	0.21828814	0.46525	-7.989	0.60995	D	.	.	0.919	0.89526	P	.;.	.;.	2.655123	0.34581	19.67	0.9968236515417197	0.79373	0.85433	0.44565	D	AEFGBCI	0.381513	0.46375	N	0.140216072168827	0.48348	3.048304	-0.00496942780266157	0.39489	2.342258	0.0103205973577625	0.12004	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.13	0.718	0.17356	0.349000	0.19801	-1.379000	0.05578	0.580000	0.29708	0.998000	0.41325	0.001000	0.17328	0.751000	0.35822	0.0:0.2367:0.0:0.7633	7.917	0.28985	552	0.72024	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	35.33	39	chr17	62690670	.	T	G	35.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.887;DP=789;ExcessHet=0;FS=37.853;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=-0.323;SOR=5.549	GT:AD:DP:GQ:PL	0/1:52,15:67:49:49,0,1274	18	0	1	0
chr17	63543595	63543595	C	T	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon10:c.C2168T:p.S723L,KCNH6:NM_001278920:exon10:c.C1799T:p.S600L,KCNH6:NM_030779:exon10:c.C2168T:p.S723L,KCNH6:NM_173092:exon11:c.C2009T:p.S670L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	.	7.7e-05	0.00339457	0.0011	0.0004	0.0110	0.0001	0	4.544e-05	0	0	0.0012484	193	154602	rs188290086	0.0005	0.0005	0.0005	0.0004	0.0132	0.0004	0.0004	0.0124	0.0120	0.0001	0.0132	0	5.038e-05	0	0	1.441e-05	0.0010	2.319e-05	0.0011	0.0011	0.0010	0.0012	0.0093	0.0010	0.0009	0.0080	0.0076	0.0004	0	0.0093	0	0.0006	0	0	2.942e-05	0.0038	0	0.074	0.34621	T	0.322	0.19188	T	0.02	0.18235	B	0.018	0.19653	B	0.535173	0.05281	N	1.405630	0.63961	0.32864	D	1.525	0.38595	L	-5.62	0.99236	D	-0.8	0.22078	N	0.31	0.35727	0.632	0.92319	D	0.863	0.95455	D	10	0.005535394	0.00122	T	.	.	.	0.408	0.72022	.	.	0.664151795403	0.66133	0.764252724592283	0.76373	0.144701793676	0.16347	0.343998432159	0.17035	T	0.088103	0.38086	T	-0.261192	0.12760	T	-0.136929	0.60384	T	0.00783053315421622	0.00092	T	0.641436	0.25361	T	0.051494453	0.09466	0.063912176	0.12730	0.051494453	0.09466	0.063912176	0.12729	-3.527	0.16812	T	.	.	0.111	0.21578	B	.;.;.;.	.;.;.;.	3.277526	0.44896	22.0	0.98226996251806664	0.39351	0.83292	0.42421	D	AEFGBI	0.267599	0.38427	N	-0.498252333255963	0.22137	1.179978	-0.388176240632909	0.25349	1.393463	0.997365415191968	0.35541	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	4.92	2.94	0.33188	1.316000	0.33226	2.806000	0.34880	-0.171000	0.11205	0.529000	0.27181	1.000000	0.68203	0.267000	0.23694	0.0:0.8128:0.0:0.1872	8.139	0.30234	869	0.31655	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1120.33	33	chr17	63543595	.	C	T	1120.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.539;DP=749;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.954;SOR=0.55	GT:AD:DP:GQ:PL	0/1:79,49:128:99:1134,0,2049	18	0	1	0
chr17	67903898	67903898	A	T	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon8:c.A2653T:p.T885S,BPTF:NM_004459:exon10:c.A3031T:p.T1011S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0573036023119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.133	0.35840	T	0.429	0.56768	B	0.14	0.65999	B	.	.	.	.	0.999998	0.58761	D	1.015	0.25427	L	-2.24	0.87194	D	-3.26	0.65397	D	0.516	0.59053	-0.5693	0.66042	T	0.271	0.64224	T	9	0.43407473	0.57679	T	0.057304	0.66917	D	0.223	0.52023	0.249	0.18602	0.788756000518	0.78680	0.8320815417102738	0.83167	0.931189936287	0.71820	0.83056896925	0.86649	D	0.256	0.62652	T	0.127904	0.67156	D	-0.0540506	0.66745	D	0.913227796554565	0.56941	D	0.762724	0.43953	T	0.14621572	0.33482	0.20382701	0.44478	0.14621572	0.33482	0.20382701	0.44477	-5.929	0.45682	T	.	.	0.472	0.72275	A	.;.;.;.;.;.	.;.;.;.;.;.	4.704771	0.75520	26.3	0.98373782769981211	0.40781	0.98251	0.80941	D	AEFBI	0.852180	0.76908	D	0.36623795999835	0.59602	4.140955	0.453293109422134	0.64929	4.75976	0.642835415499457	0.22069	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.1	5.1	0.68917	7.248000	0.77702	10.960000	0.84456	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8544:0.0:0.0:0.1456	10.428	0.43579	933	0.16026	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	41	chr17	67903898	.	A	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=695;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.284;SOR=0.794	GT:AD:DP:GQ:PL	0/1:37,29:66:99:693,0,844	18	0	1	0
chr17	73206242	73206242	C	T	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon11:c.C2599T:p.R867C	Congenital disorder of glycosylation, type IIg	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0304232936559	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs750297918	1.71e-05	1.71e-05	1.225e-05	2.2e-05	6.956e-05	1.174e-05	9.92e-06	2.995e-05	2.038e-05	0	0	0	2.519e-05	0	0	1.619e-05	0	6.956e-05	6.57e-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	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.958	0.70027	D	0.000001	0.62929	D	0.101081	1	0.81001	D	3.07	0.87108	M	1.39	0.33842	T	-7.17	0.94145	D	0.738	0.74462	-0.5540	0.66634	T	0.272	0.64391	T	10	0.73786914	0.74748	D	0.030423	0.52740	D	0.343	0.66488	.	.	0.556342864924	0.55293	.	.	0.534727349575	0.50864	0.57826179266	0.49842	T	0.147193	0.61595	T	0.0756172	0.61524	D	0.0734964	0.75144	D	0.895809301065959	0.54742	D	0.974903	0.91072	D	0.6515205	0.75445	0.5569747	0.74374	0.6515205	0.75446	0.5569747	0.74374	-8.39	0.63699	D	0.6582616768579209	0.73136	0.084	0.12797	B	.;.	.;.	5.587478	0.92352	32	0.99263719270415651	0.57289	0.98007	0.78823	D	AEFBCI	0.753848	0.69390	D	0.817295375958477	0.87176	9.128129	0.778585633104476	0.88267	9.518756	0.999759781402298	0.42595	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.7	5.7	0.88690	5.491000	0.66606	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.841	0.96682	456	0.79013	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1456.33	34	chr17	73206242	.	C	T	1456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.746;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.721;SOR=0.699	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1470,0,1279	18	0	1	0
chr17	74855071	74855071	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon2:c.G22A:p.A8T,GRIN2C:NM_001278553:exon2:c.G22A:p.A8T	.	414	1089	18	1	0	20	0.00909918	.	.	.	717899	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00557810023779	0.0031	0.00179712	0.0038	0.0008	0.0037	0	0.0053	0.0052	0.0028	0.0012	0.0034152	528	154602	rs80016270	0.0036	0.0036	0.0036	0.0037	0.0126	0.0035	0.0035	0.0102	0.0093	0.0005	0.0047	0.0117	0	0.0034	0.0126	0.0037	0.0049	0.0012	0.0031	0.0031	0.0028	0.0034	0.0054	0.0029	0.0028	0.0045	0.0041	0.0009	0	0.0054	0.0118	0	0.0040	0.0340	0.0036	0.0052	0.0012	0.066	0.36113	T	0.024	0.58613	D	0.013	0.16609	B	0.003	0.08700	B	0.000217	0.47681	D	0.000000	0.991763	0.23986	N	1.32	0.33002	L	2.76	0.11515	T	-0.69	0.19720	N	0.069	0.05542	-1.0327	0.19586	T	0.018	0.07470	T	10	0.01020661	0.00228	T	0.005578	0.14409	T	0.070	0.20419	.	.	0.426084969639	0.42228	0.2103491637525551	0.20950	0.475333967589	0.46711	0.65935587883	0.61317	T	0.122926	0.44693	T	-0.646808	0.00076	T	-0.699537	0.05852	T	0.00427776831612339	0.00046	T	0.667933	0.28413	T	0.067362584	0.14579	0.1271619	0.30616	0.067362584	0.14578	0.1271619	0.30615	-5.971	0.46036	T	.	.	0.105	0.19518	B	.;.	.;.	2.315961	0.29649	18.19	0.92519042796558038	0.21960	0.22985	0.21928	N	AEFBI	0.090535	0.18345	N	-0.412394032517546	0.25033	1.356005	-0.349068439635612	0.26537	1.466477	0.0621952129285446	0.15256	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.47	4.47	0.53770	0.312000	0.19147	2.670000	0.33941	0.589000	0.31548	0.100000	0.22794	0.992000	0.31684	0.495000	0.28905	0.0:0.6924:0.1671:0.1405	6.560	0.21680	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	0	0	1	0	0.011651	0.015152	0.010870	0.017647	0.000000	0.017241	0.012500	0.000000	0.02632	1811.33	36	chr17	74855071	.	C	T	1811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.326;DP=773;ExcessHet=0;FS=1.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.42;ReadPosRankSum=1.06;SOR=0.892	GT:AD:DP:GQ:PL	0/1:36,68:104:99:1825,0,920	18	0	1	0
chr17	74893498	74893533	GGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	-	exonic	FADS6	.	nonframeshift deletion	FADS6:NM_178128:exon1:c.63_98del:p.T22_P33del	.	429	803	98	141	51	431	0.191339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266381884	0.0022	0.0022	0.0022	0.0023	0.0046	0.0022	0.0021	0.0032	0.0027	0.0010	0.0009	0.0041	5.498e-05	0.0009	0.0046	0.0025	0.0031	0.0007	0.0071	0.0063	0.0079	0.0063	0.0112	0.0067	0.0066	0.0105	0.0102	0.0038	0	0.0047	0.0061	0.0013	0.0011	0.0082	0.0112	0.0064	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	7973.29	47	chr17	74893497	.	CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA	C	7973.29	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.241;DP=1234;ExcessHet=11.1788;FS=1.753;InbreedingCoeff=-0.4615;MLEAC=2;MLEAF=0.053;MQ=59.95;MQRankSum=0;QD=16.51;ReadPosRankSum=-0.36;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,13:50:99:0|1:74893497_CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA_C:393,0,1418:74893497	17	0	2	0
chr17	74893524	74893578	GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC	0	exonic	FADS6	.	.	.	.	431	885	175	21	10	227	0.10921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5823.3	64	chr17	74893524	.	GGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTAGGTTCCATC	*	5823.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.72;DP=1147;ExcessHet=0.1204;FS=2.468;InbreedingCoeff=0.272;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.731;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,13:50:99:1|0:74893497_CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA_C:1955,1439,1392:74893497	17	0	2	0
chr17	74893569	74893569	A	0	exonic	FADS6	.	.	.	.	427	899	3	0	193	196	0.00166574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	810.55	60	chr17	74893569	.	A	*	810.55	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.891;DP=1146;ExcessHet=0.6689;FS=3.245;InbreedingCoeff=0.0483;MLEAC=7;MLEAF=0.184;MQ=59.31;MQRankSum=-2.9;QD=2.05;ReadPosRankSum=2.93;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,37:50:99:1|0:74893497_CGGTTCCATGGGCTCCGTAGGTTCCATGGGCTCCGTA_C:1435,0,158:74893497	13	1	5	0
chr17	75242428	75242428	C	G	exonic	GGA3	.	nonsynonymous SNV	GGA3:NM_001291642:exon5:c.G289C:p.E97Q,GGA3:NM_001172704:exon7:c.G289C:p.E97Q,GGA3:NM_014001:exon7:c.G556C:p.E186Q,GGA3:NM_001172703:exon8:c.G439C:p.E147Q,GGA3:NM_138619:exon8:c.G655C:p.E219Q,GGA3:NM_001291641:exon9:c.G439C:p.E147Q	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	7.7e-05	0.01877	0.0076	0.0002	8.637e-05	0.1016	0.0012	0.0003	0.0066	0.0007	0.0070504	1090	154602	rs78338345	0.0034	0.0034	0.0034	0.0034	0.1074	0.0033	0.0033	0.1047	0.1036	0.0001	0.0001	0.0001	0.1074	0.0013	0.0005	0.0002	0.0047	0.0013	0.0036	0.0037	0.0030	0.0043	0.0943	0.0034	0.0033	0.0874	0.0846	0.0003	0	0.0004	0.0003	0.0943	0.0013	0	0.0001	0.0057	0.0031	.	.	.	0.221	0.36630	T	0.532	0.90584	P	0.621	0.97372	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.88	0.49984	L	0.79	0.49068	T	.	.	.	0.599	0.65159	-1.1237	0.02110	T	0.008	0.02801	T	10	0.0026178956	0.00040	T	.	.	.	0.179	0.44899	.	.	0.84139860181	0.83988	0.23731523162067475	0.23646	.	.	0.527421593666	0.42672	T	0.117224	0.43716	T	-0.363431	0.03939	T	-0.207967	0.53889	T	0.0410354941669957	0.03878	T	0.719828	0.34191	T	0.6824873	0.77104	0.46055254	0.68668	0.6824873	0.77105	0.46055254	0.68669	-10.782	0.78449	D	.	.	0.234	0.47094	B	.;.;.;.;.;.	.;.;.;.;.;.	4.130814	0.61814	24.4	0.98444071959766488	0.41542	0.96524	0.69570	D	AEFDGBHCI	0.830068	0.74886	D	0.576238488136761	0.71692	5.689902	0.582004973011859	0.73651	6.005361	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.83	4.83	0.61880	6.118000	0.71287	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	18.134	0.89545	958	0.09170	.;GAT domain;.;GAT domain;.;GAT domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.02632	1505.33	34	chr17	75242428	.	C	G	1505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.716;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.076;SOR=0.725	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1519,0,1394	18	0	1	0
chr17	78146420	78146420	G	A	exonic	C17orf99	.	nonsynonymous SNV	C17orf99:NM_001163075:exon1:c.G13A:p.G5R	.	291	1229	1	1	0	3	0.00121902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0133491995469	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs556071895	7.152e-07	6.84e-07	0	1.45e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	6.572e-06	6.562e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.571	0.08777	T	0.112	0.26290	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.8	0.22078	N	0.148	0.15046	-1.0321	0.19777	T	0.052	0.22037	T	9	0.037187487	0.02059	T	0.013349	0.32685	T	0.012	0.01476	0.479	0.55823	0.115124310173	0.11017	0.4343603504596069	0.43353	.	.	.	.	.	0.002693	0.02085	T	-0.278161	0.10863	T	-0.637335	0.09864	T	0.239517112016426	0.22397	T	0.528347	0.17454	T	0.13424975	0.31198	0.110246524	0.26580	0.13424975	0.31198	0.110246524	0.26579	-4.038	0.24370	T	.	.	0.202	0.42578	B	.	.	0.590546	0.09587	6.364	0.99120255758828402	0.52958	0.06092	0.12067	N	AEFGBHCI	0.065489	0.12775	N	-1.17949822274299	0.05311	0.2417812	-1.2241806856535	0.05524	0.2634112	0.999999999886707	0.74766	0.600919	0.35232	0	0.596877	0.49441	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.59	0.472	0.15969	-0.756000	0.04882	-1.861000	0.04595	-0.911000	0.02260	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.514:0.2323:0.2537	3.545	0.07379	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	289.33	37	chr17	78146420	.	G	A	289.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.015;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.198;SOR=0.608	GT:AD:DP:GQ:PL	0/1:16,13:29:99:303,0,472	18	0	1	0
chr17	81207235	81207235	T	C	exonic	CEP131	.	nonsynonymous SNV	CEP131:NM_001009811:exon4:c.A277G:p.T93A,CEP131:NM_001319228:exon4:c.A277G:p.T93A,CEP131:NM_001319229:exon4:c.A277G:p.T93A,CEP131:NM_014984:exon4:c.A277G:p.T93A	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0101371068621	0.0002	0.000199681	0.0006	0	0.0002	0	0	0.0002	0	0.0035	0.0004722	73	154602	rs375803496	0.0003	0.0004	0.0002	0.0005	0.0034	0.0003	0.0003	0.0031	0.0030	2.989e-05	0.0002	3.828e-05	0	0	0.0024	0.0002	0.0002	0.0034	0.0001	0.0001	0.0001	0.0001	0.0010	7.574e-05	6.28e-05	0.0004	0.0003	7.219e-05	0	0.0003	0	0	0	0	8.823e-05	0	0.0010	0.621	0.05293	T	0.767	0.04555	T	0.0	0.02946	B	0.0	0.01387	B	0.329952	0.14130	N	0.684465	1	0.08975	N	-2.08	0.00163	N	2.63	0.12884	T	0.51	0.02898	N	0.053	0.03175	-0.9767	0.35749	T	0.011	0.04274	T	10	0.0052967668	0.00116	T	0.010137	0.26324	T	0.122	0.33800	.	.	0.0401082797425	0.02173	0.06369556506313895	0.06308	0.0887497459369	0.10036	0.315945357084	0.12807	T	0.023248	0.17779	T	-0.742991	0.00020	T	-0.842768	0.01058	T	0.0178249861706276	0.00510	T	0.250075	0.03765	T	0.014332779	0.00089	0.030699758	0.01560	0.014332779	0.00089	0.030699758	0.01560	-2.459	0.05607	T	.	.	0.060	0.00876	B	.;.;.;.	.;.;.;.	-0.191130	0.03136	0.504	0.55051491788349805	0.05262	0.00104	0.00666	N	AEFDBI	0.020466	0.00811	N	-1.21114386039058	0.04837	0.2191516	-1.0583147804228	0.08534	0.4200834	0.23242330476472	0.18480	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	0.642000	0.24426	0.415000	0.18155	-0.964000	0.01968	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9204:0.0:0.0796	12.088	0.53008	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	810.33	37	chr17	81207235	.	T	C	810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.029;DP=749;ExcessHet=0;FS=1.173;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.303;SOR=0.511	GT:AD:DP:GQ:PL	0/1:25,28:53:99:824,0,758	18	0	1	0
chr17	81426913	81426913	C	T	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon3:c.C292T:p.P98S,BAHCC1:NM_001377448:exon3:c.C292T:p.P98S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1013216771	0.0001	7.472e-05	0.0001	0.0002	0.0008	9.756e-05	8.476e-05	0.0001	9.78e-05	0.0001	0	0	0.0002	0	0.0008	0.0002	6.105e-05	0	0.0001	0.0001	0.0002	0.0001	0.0010	8.66e-05	7.253e-05	0.0004	0.0002	0.0001	0	0	0	0.0010	0	0	0.0001	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.03	0.08898	T	1.62	0.00637	N	0.085	0.06454	.	.	.	.	.	.	.	0.028912544	0.01020	T	.	.	.	.	.	.	.	.	.	0.24770089136876453	0.24684	.	.	.	.	.	0.072149	0.34383	T	.	.	.	.	.	.	.	.	.	0.465553	0.13627	T	.	.	.	.	.	.	.	.	-2.986	0.10031	T	.	.	0.048	0.00096	B	.;.	.;.	-0.389760	0.02250	0.231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617000	0.24053	0.238000	0.16272	-1.103000	0.01505	0.754000	0.29177	0.141000	0.23092	0.019000	0.11356	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	434.33	33	chr17	81426913	.	C	T	434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-0.069;SOR=0.636	GT:AD:DP:GQ:PL	0/1:30,16:46:99:448,0,711	18	0	1	0
chr17	81445621	81445621	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon10:c.G3103A:p.A1035T,BAHCC1:NM_001377448:exon10:c.G3103A:p.A1035T	.	418	1089	14	1	0	16	0.00729262	.	.	.	2818087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	.	0.0003	0.000399361	0.0038	0	0.0014	0	0	0.0011	0.0105	0.0084	0.0007568	117	154602	rs368906845	0.0013	0.0013	0.0008	0.0017	0.0077	0.0012	0.0012	0.0071	0.0069	0.0002	0.0005	0.0015	9.043e-05	4.137e-05	0.0068	0.0004	0.0009	0.0077	0.0005	0.0005	0.0004	0.0006	0.0070	0.0004	0.0004	0.0052	0.0045	0	0	0.0003	0.0003	0	0	0.0136	0.0004	0	0.0070	1.0	0.00964	T	0.644	0.09931	T	0.002	0.12996	B	0.001	0.08700	B	0.503324	0.05105	N	1.424980	1	0.08975	N	0.46	0.12951	N	2.73	0.11839	T	-0.01	0.07155	N	0.075	0.04913	-0.9727	0.36627	T	0.012	0.04700	T	10	0.004210353	0.00084	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.09676238022195217	0.09608	0.0816453080078	0.09195	0.281145811081	0.07652	T	0.083094	0.36976	T	-0.656311	0.00066	T	-0.710113	0.05289	T	0.00888549965512409	0.00110	T	0.433057	0.11799	T	0.016313279	0.00190	0.03705782	0.03278	0.016313279	0.00189	0.03705782	0.03278	-4.257	0.27570	T	.	.	0.070	0.03588	B	.;.	.;.	-0.581170	0.01623	0.112	0.89772947412604487	0.19088	0.06100	0.12076	N	AEFBCI	0.058839	0.11068	N	-1.6186443953941	0.01174	0.05104111	-1.63677612583827	0.01446	0.06539116	0.130293067513638	0.17077	0.646311	0.45356	0	0.547309	0.14657	0	0.600433	0.31921	0	0.699875	0.68795	0	.	.	4.39	-3.93	0.03868	-2.317000	0.01203	-1.550000	0.05191	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2954:0.0:0.4448:0.2598	4.382	0.10729	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002572	0.000000	0.002755	0.000000	0.000000	0.009091	0.006289	0.000000	0.02632	1313.33	42	chr17	81445621	.	G	A	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-0.999;SOR=0.687	GT:AD:DP:GQ:PL	0/1:37,52:89:99:1327,0,736	18	0	1	0
chr17	82831139	82831139	G	C	exonic	ZNF750	.	nonsynonymous SNV	ZNF750:NM_024702:exon2:c.C1316G:p.S439C	Seborrhea-like dermatitis with psoriasiform elements	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0325835726139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	2.569e-05	0	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.021	0.58089	D	0.995	0.67487	D	0.789	0.57669	P	0.357122	0.13726	N	0.673572	1	0.81001	D	2.015	0.55033	M	2.46	0.14907	T	-2.31	0.51319	N	0.241	0.34767	-1.0751	0.08328	T	0.083	0.32440	T	9	0.15318695	0.28920	T	0.032584	0.54372	D	0.102	0.29158	0.212	0.13066	0.0675242888579	0.06100	0.20442819731678002	0.20359	0.579728090572	0.53832	0.240730941296	0.02857	T	0.055407	0.51398	T	-0.226461	0.17120	T	-0.563072	0.16089	T	0.778561592102051	0.44960	D	0.450755	0.12737	T	0.19282895	0.40968	0.25161162	0.50775	0.19282895	0.40968	0.25161162	0.50774	-5.424	0.41150	T	.	.	0.094	0.24666	B	.;.	.;.	1.992815	0.25321	16.72	0.98687242246291662	0.44709	0.50489	0.28674	D	AEFDBI	0.185642	0.31296	N	-0.145444431325318	0.35428	2.034857	-0.348084916943371	0.26569	1.468362	0.952759460508659	0.28034	0.403107	0.06075	0	0.54472	0.11627	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	4.4	3.42	0.38259	2.282000	0.43122	0.447000	0.18483	0.676000	0.76740	0.045000	0.21207	0.000000	0.08366	0.031000	0.13245	0.0878:0.0:0.9122:0.0	11.740	0.51053	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1019.33	41	chr17	82831139	.	G	C	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.1;DP=865;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.144;SOR=0.909	GT:AD:DP:GQ:PL	0/1:35,34:69:99:1033,0,1040	18	0	1	0
chr18	2926781	2926781	A	G	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon13:c.T1735C:p.S579P,LPIN2:NM_001375809:exon13:c.T1735C:p.S579P,LPIN2:NM_014646:exon13:c.T1735C:p.S579P	Majeed syndrome	0	1508	13	1	0	15	0.00494886	.	.	.	232045	LPIN2-related_disorder|Majeed_syndrome|not_provided|Autoinflammatory_syndrome	.|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.154	0.0625913648545	0.0017	0.000798722	0.0027	0.0002	0.0011	0.0001	0.0013	0.0042	0.0023	0.0012	0.0027231	421	154602	rs150022314	0.0030	0.0031	0.0032	0.0029	0.0036	0.0030	0.0029	0.0035	0.0035	0.0005	0.0013	0.0007	0	0.0014	0.0009	0.0036	0.0022	0.0013	0.0021	0.0021	0.0023	0.0020	0.0041	0.0019	0.0019	0.0037	0.0035	0.0004	0	0.0010	0.0006	0	0.0011	0	0.0041	0.0005	0.0002	0.49	0.07994	T	0.307	0.19908	T	0.155	0.28155	B	0.06	0.26717	B	0.383846	0.13352	N	0.748217	0.708991	0.30032	N	1.63	0.41750	L	-1.46	0.80983	T	0.04	0.06488	N	0.262	0.29659	-0.6596	0.62293	T	0.331	0.69902	T	10	0.0046516657	0.00097	T	0.062591	0.68701	D	0.154	0.40340	.	.	0.643193964233	0.64025	0.2802255546717918	0.27935	0.296124779412	0.31998	0.458477377892	0.33101	T	0.050766	0.28689	T	-0.333935	0.05819	T	-0.25136	0.49682	T	0.00901518552048372	0.00113	T	0.671133	0.27986	T	0.0814418	0.18712	0.11524077	0.27819	0.0814418	0.18712	0.11524077	0.27818	-3.027	0.10475	T	0.16822518049194318	0.21021	0.064	0.01577	B	.	.	1.800045	0.22880	15.80	0.97205228650211106	0.32829	0.30929	0.24208	N	AEFDBI	0.152903	0.27767	N	-0.505954348720314	0.21887	1.164824	-0.432146656834199	0.24059	1.315438	0.999676457045093	0.41644	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.76	4.58	0.56077	1.185000	0.31675	2.749000	0.34521	0.756000	0.94297	0.188000	0.24163	0.971000	0.29754	0.984000	0.60418	0.7813:0.1462:0.0725:0.0	7.346	0.25839	738	0.53389	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1238.33	34	chr18	2926781	.	A	G	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.595;DP=724;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.107;SOR=0.608	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1252,0,1201	18	0	1	0
chr18	8825205	8825205	A	C	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon13:c.A4652C:p.E1551A,MTCL1:NM_001378207:exon13:c.A4652C:p.E1551A,MTCL1:NM_001378206:exon14:c.A4775C:p.E1592A,MTCL1:NM_015210:exon15:c.A3695C:p.E1232A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0126652999134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.658e-06	0.0013	5.528e-06	9.819e-06	1.002e-05	4.11e-06	3e-06	5.37e-06	3.93e-06	0	0	0	0	0	0	1.002e-05	0	0	1.972e-05	0.0004	3.859e-05	0	6.538e-05	5.24e-06	2.45e-06	.	.	2.407e-05	0	6.538e-05	0	0	0	0	1.472e-05	0	0	0.1	0.30515	T	0.021	0.67890	D	0.95	0.53885	P	0.469	0.46748	P	0.000273	0.46590	D	0.000000	0.935585	0.39389	D	2.33	0.66821	M	2.1	0.38718	T	-3.43	0.67359	D	0.323	0.43126	-0.8178	0.54071	T	0.137	0.45337	T	10	0.3475388	0.51686	T	0.012665	0.31427	T	0.235	0.53788	.	.	0.433713641954	0.42991	0.13180484306900944	0.13105	0.357429898638	0.37461	0.446914613247	0.31523	T	0.231436	0.59775	T	0.0545536	0.58926	T	-0.159414	0.58405	T	0.91475123167038	0.57152	D	0.844715	0.52235	T	0.10809364	0.25559	0.08981	0.21025	0.10809364	0.25558	0.08981	0.21024	-2.727	0.07663	T	.	.	0.130	0.27939	B	.;.;.;.;.	.;.;.;.;.	2.735056	0.35810	20.0	0.98299094257539466	0.40030	0.94633	0.61805	D	AEFDBCI	0.705809	0.66107	D	0.220221574234827	0.52180	3.393834	0.16395926165037	0.47887	3.012217	0.999999994384731	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.102000	0.76653	8.711000	0.78136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	1.0:0.0:0.0:0.0	13.311	0.59820	846	0.36215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	43.33	47	chr18	8825205	.	A	C	43.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.432;DP=1237;ExcessHet=0;FS=55.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=0.474;SOR=5.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,13:139:57:0|1:8825203_A_C:57,0,5128:8825203	18	0	1	0
chr18	13826354	13826354	A	G	exonic	MC5R	.	nonsynonymous SNV	MC5R:NM_005913:exon2:c.A589G:p.M197V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.00500329269368	.	.	3.295e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs760768386	4.104e-06	4.104e-06	5.445e-06	2.75e-06	0.0001	1.48e-06	9.7e-07	4.907e-05	3.165e-05	0	0	0	0.0001	0	0	8.993e-07	0	0	1.315e-05	1.313e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.036	0.43393	D	0.465	0.12421	T	0.698	0.41805	P	0.438	0.45631	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	1.3	0.35590	T	-2.96	0.61722	D	0.815	0.81063	-0.8055	0.54819	T	0.150	0.47681	T	10	0.5329939	0.63289	D	0.005003	0.12629	T	0.391	0.70684	0.574	0.69826	0.668866860391	0.66607	.	.	0.29233043963	0.31646	0.492802321911	0.37828	T	0.349167	0.71706	T	-0.114974	0.33948	T	-0.102605	0.63196	T	0.364931260410271	0.27601	T	0.920408	0.71216	D	0.5916508	0.72240	0.5837083	0.75863	0.5916508	0.72242	0.5837083	0.75864	-8.931	0.67252	D	.	.	0.107	0.23986	B	.;.	.;.	3.356924	0.46327	22.3	0.99087453999662001	0.52124	0.98354	0.81929	D	AEFGBI	0.921882	0.89602	D	0.416035722292841	0.62302	4.444078	0.405179560801203	0.61885	4.395263	0.999999999998052	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.01	5.01	0.66477	8.924000	0.92376	7.907000	0.73837	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	1.0:0.0:0.0:0.0	13.885	0.63206	854	0.34840	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3055.33	34	chr18	13826354	.	A	G	3055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=1391;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.539;SOR=0.599	GT:AD:DP:GQ:PL	0/1:132,117:249:99:3069,0,3595	18	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	5491.12	187	chr18	14513679	.	T	G	5491.12	.	AC=10;AF=0.294;AN=34;BaseQRankSum=3.02;DP=4174;ExcessHet=6.9875;FS=11.886;InbreedingCoeff=-0.4081;MLEAC=11;MLEAF=0.324;MQ=50.93;MQRankSum=-9.351;QD=2.03;ReadPosRankSum=-3.085;SOR=1.891	GT:AD:DP:GQ:PL	0/1:103,23:126:99:356,0,2672	7	0	10	2
chr18	26916363	26916363	C	T	exonic	CHST9	.	nonsynonymous SNV	CHST9:NM_031422:exon6:c.G1228A:p.V410M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0781816074379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291133808	3.011e-05	3.078e-05	3.132e-05	2.889e-05	0.0002	2.282e-05	2.033e-05	2.712e-05	2.387e-05	0	0	0	0	0	0.0002	3.598e-05	4.968e-05	0	3.284e-05	3.281e-05	3.856e-05	2.687e-05	4.413e-05	1.26e-05	7.98e-06	1.172e-05	6.25e-06	2.406e-05	0	0	0	0	0	0.0034	4.413e-05	0	0	.	.	.	0.052	0.47581	T	0.999	0.77913	D	0.98	0.74843	D	0.000009	0.62929	D	0.000000	0.999218	0.81001	D	1.57	0.39626	L	-0.86	0.74477	T	.	.	.	0.316	0.36569	-0.1690	0.78452	T	0.435	0.77542	T	10	0.46356452	0.59432	T	0.078182	0.72945	D	.	.	0.563	0.68364	0.931016252499	0.93030	0.5014915545137554	0.50071	.	.	0.505343317986	0.39572	T	0.300993	0.67346	T	0.0364664	0.56580	T	-0.185395	0.56020	T	0.837623575889094	0.49135	D	0.886311	0.61284	D	0.13372497	0.31094	0.119823396	0.28920	0.13372497	0.31094	0.119823396	0.28919	-4.061	0.24713	T	.	.	0.361	0.57317	A	.;.	.;.	4.238210	0.64232	24.7	0.99827077422486199	0.90939	0.84455	0.43537	D	AEFBI	0.344726	0.44012	N	0.647509030214827	0.76209	6.444166	0.688339259811733	0.81492	7.539599	0.999167520489141	0.38622	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	4.536000	0.60348	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.0:0.9305:0.0:0.0695	13.806	0.62721	930	0.16408	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1548.33	33	chr18	26916363	.	C	T	1548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=729;ExcessHet=0;FS=1.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.213;SOR=0.5	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1562,0,1009	18	0	1	0
chr18	31531146	31531146	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon9:c.G1174A:p.V392I	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	0	1517	4	1	0	6	0.00197368	.	.	.	44673	not_specified|Arrhythmogenic_right_ventricular_dysplasia_10|Cardiovascular_phenotype|not_provided|Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:CN169374|MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193|MedGen:CN230736|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.270	0.0286381861361	0.0016	0.000998403	0.0026	0.0010	0.0009	0	0.0008	0.0026	0	0.0067	0.0023609	365	154602	rs193922639	0.0027	0.0027	0.0026	0.0029	0.0062	0.0027	0.0026	0.0058	0.0056	0.0003	0.0005	0.0003	2.52e-05	0.0013	0.0009	0.0029	0.0020	0.0062	0.0016	0.0016	0.0017	0.0016	0.0044	0.0015	0.0014	0.0029	0.0025	0.0005	0	0.0013	0.0006	0	0.0010	0	0.0025	0.0009	0.0044	0.017	0.51248	D	0.032	0.53426	D	0.008	0.14655	B	0.001	0.04355	B	0.513255	0.11821	N	0.755207	2.52039e-11	0.08975	A	1.4	0.35362	L	0.11	0.61208	T	-0.51	0.15986	N	0.082	0.05799	-0.9993	0.30115	T	0.135	0.44991	T	10	0.07768899	0.12293	T	0.028638	0.51283	D	0.270	0.58507	.	.	0.348764635752	0.34483	0.2786330033912825	0.27776	0.0594757320716	0.06608	0.28312844038	0.07932	T	0.11102	0.42619	T	-0.341905	0.05257	T	-0.261288	0.48697	T	0.00925711520683124	0.00117	T	0.477152	0.14354	T	0.071468465	0.15825	0.07249403	0.15646	0.13114479	0.30578	0.06776705	0.14065	-4.438	0.30069	T	0.12260084806637125	0.11769	0.071	0.03736	B	.	.	1.558996	0.19974	14.53	0.96072640660401998	0.28629	0.00654	0.02841	N	AEFBI	0.020959	0.00882	N	-1.0044234640247	0.08511	0.3993598	-1.03344473110969	0.09055	0.4484227	0.0759715167484184	0.15713	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.02	0.985	0.18897	1.676000	0.37181	2.155000	0.30939	-0.272000	0.06708	0.002000	0.15269	0.001000	0.17328	0.018000	0.11154	0.722:0.0:0.1495:0.1285	5.433	0.15765	702	0.57624	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1477.33	40	chr18	31531146	.	G	A	1477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.09;DP=762;ExcessHet=0;FS=1.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.14;SOR=0.878	GT:AD:DP:GQ:PL	0/1:67,59:126:99:1491,0,1558	18	0	1	0
chr18	62895992	62895992	A	G	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.A2425G:p.I809V	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00644763915004	0.0056	0.00199681	0.0062	0.0015	0.0026	0	0.0024	0.0098	0.0049	0.0020	0.0057179	884	154602	rs140035447	0.0073	0.0073	0.0076	0.0071	0.0086	0.0072	0.0071	0.0085	0.0084	0.0007	0.0036	0.0080	0	0.0019	0.0059	0.0086	0.0067	0.0022	0.0054	0.0054	0.0057	0.0051	0.0093	0.0051	0.0050	0.0087	0.0084	0.0012	0	0.0046	0.0092	0	0.0018	0	0.0093	0.0066	0.0012	0.18	0.21968	T	0.566	0.08930	T	0.011	0.15914	B	0.017	0.18140	B	.	.	.	.	0.999552	0.47544	D	0.37	0.12060	N	1.82	0.25018	T	-0.3	0.11913	N	0.254	0.28732	-1.0998	0.04116	T	0.031	0.13461	T	9	0.0069567263	0.00158	T	0.006448	0.16985	T	0.024	0.04979	.	.	0.198222871337	0.19423	0.16040579437757857	0.15961	0.18493123561	0.20789	0.36145812273	0.19598	T	0.075158	0.35111	T	-0.515915	0.00465	T	-0.501529	0.22190	T	0.00988755284792739	0.00131	T	0.756924	0.38041	T	0.06259428	0.13090	0.06520868	0.13185	0.06259428	0.13089	0.06520868	0.13184	-2.914	0.09284	T	.	.	0.081	0.08129	B	.	.	1.522128	0.19539	14.31	0.96229183512237038	0.29113	0.78783	0.38922	D	AEFDGBI	0.276728	0.39140	N	-0.178972271614104	0.34011	1.936217	0.0252513208865807	0.40891	2.447648	0.999992503888689	0.74766	0.661447	0.50134	0	0.633656	0.55848	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.07	5.07	0.68106	2.102000	0.41421	1.085000	0.23927	0.756000	0.94297	1.000000	0.71638	0.912000	0.28152	0.997000	0.79791	1.0:0.0:0.0:0.0	15.016	0.71245	986	0.02773	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.006793	0.011696	0.000000	0.008621	0.003049	0.007576	0.02632	394.33	33	chr18	62895992	.	A	G	394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.821;DP=697;ExcessHet=0;FS=3.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=0.651;SOR=0.293	GT:AD:DP:GQ:PL	0/1:33,18:51:99:408,0,980	18	0	1	0
chr18	63722993	63722993	A	G	splicing	SERPINB11	NM_080475:exon9:c.775-2A>G;NM_001370475:exon8:c.775-2A>G;NM_001291279:exon7:c.250-2A>G;NM_001291278:exon6:c.514-2A>G	.	.	.	418	1100	4	0	0	4	0.00181488	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.000399361	0.0013	0.0003	0.0007	0	0.0002	0.0012	0.0021	0.0070	0.0007956	123	154602	rs200847682	0.0011	0.0011	0.0010	0.0012	0.0030	0.0011	0.0011	0.0027	0.0026	0.0002	0.0002	0.0030	0	1.963e-05	0.0020	0.0011	0.0008	0.0030	0.0006	0.0006	0.0006	0.0006	0.0033	0.0005	0.0005	0.0021	0.0017	0.0002	0	0.0004	0.0023	0	0	0	0.0008	0.0005	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.157739	0.27110	T	-0.000195656	0.70323	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.735120	0.93300	33	0.98800337441034802	0.46445	0.99582	0.97678	D	AEFGBI	.	.	.	0.958261503700684	0.94309	12.65779	0.742907306852237	0.85625	8.637139	0.999999604533057	0.74766	0.055872	0.00684	0	0.059962	0.00310	0	0.067067	0.01885	0	0.057018	0.00518	0	0.723038	0.43534	4.96	4.96	0.65153	8.879000	0.92029	11.057000	0.85382	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	1.0:0.0:0.0:0.0	14.098	0.64561	955	0.09969	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1555.33	34	chr18	63722993	.	A	G	1555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.02;ReadPosRankSum=0.195;SOR=0.846	GT:AD:DP:GQ:PL	0/1:20,54:74:99:1569,0,420	18	0	1	0
chr18	63918068	63918068	C	A	exonic	SERPINB10	.	nonsynonymous SNV	SERPINB10:NM_005024:exon4:c.C338A:p.A113E	.	437	1065	19	0	1	20	0.00884132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	.	0.00259585	0.0018	0.0003	0.0006	0	0	0.0009	0.0022	0.0089	0.0015653	242	154602	rs150764677	0.0011	0.0011	0.0007	0.0014	0.0102	0.0010	0.0010	0.0096	0.0094	0.0001	0.0002	0.0006	0	1.875e-05	0.0050	0.0005	0.0012	0.0102	0.0007	0.0007	0.0005	0.0009	0.0089	0.0006	0.0005	0.0068	0.0061	9.638e-05	0	0.0005	0.0014	0	9.454e-05	0	0.0006	0.0019	0.0089	0.007	0.59928	D	0.016	0.60972	D	0.503	0.37206	P	0.165	0.35019	B	0.103519	0.19744	N	0.534882	1	0.08975	N	2.365	0.68172	M	-1.87	0.84415	D	0.62	0.02442	N	0.256	0.28965	-0.3362	0.73953	T	0.499	0.81033	T	10	0.0140993595	0.00297	T	.	.	.	0.340	0.66202	0.82	0.93328	0.768827659172	0.76671	0.5855384913771153	0.58482	0.0360439460579	0.03809	.	.	.	0.14396	0.48034	T	-0.307592	0.07963	T	-0.207504	0.53934	T	0.0177004433797873	0.00501	T	0.872113	0.57861	D	0.083175056	0.19196	0.16915773	0.38929	0.083175056	0.19196	0.16915773	0.38928	-6.628	0.51267	T	.	.	0.349	0.56501	A	.;.	.;.	1.472428	0.18966	14.02	0.88662443902899091	0.18154	0.02507	0.06998	N	AEFDGBIJ	0.035576	0.04603	N	-0.511846940848905	0.21696	1.153322	-0.585779298301498	0.19863	1.067659	0.999977401777019	0.50053	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.83	3.07	0.34476	0.841000	0.27267	3.512000	0.38846	-0.184000	0.09925	0.001000	0.13787	0.744000	0.26502	0.221000	0.22489	0.0779:0.2951:0.627:0.0	9.162	0.36189	960	0.08626	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	.	.	.	.	.	.	.	.	0.02632	1126.33	34	chr18	63918068	.	C	A	1126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.237;SOR=0.744	GT:AD:DP:GQ:PL	0/1:66,46:112:99:1140,0,1642	18	0	1	0
chr18	76441697	76441697	C	T	exonic	ZNF516	.	nonsynonymous SNV	ZNF516:NM_014643:exon3:c.G1358A:p.R453K	.	431	1087	3	1	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0165481141107	8.2e-05	.	0.0013	0	0.0058	0	0	0.0016	0.0064	0.0007	0.0002458	38	154602	rs374045343	0.0003	0.0003	0.0003	0.0003	0.0030	0.0003	0.0002	0.0019	0.0016	3.086e-05	0.0003	0	0	2.29e-05	0.0030	0.0003	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0003	0	0.0002	0	0.0068	0.0003	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.104812	0.19686	N	0.504521	1	0.08975	N	.	.	.	3.33	0.06138	T	0.75	0.02007	N	0.043	0.01577	-0.9107	0.46768	T	0.008	0.02679	T	9	0.0065419376	0.00148	T	0.016548	0.37860	T	0.023	0.04649	.	.	0.0954503805726	0.09146	0.3558818690918303	0.35502	0.605889179767	0.55460	0.824012041092	0.85643	D	0.003076	0.02473	T	-0.615558	0.00117	T	-0.794022	0.02056	T	0.00549400344487301	0.00060	T	0.647735	0.25884	T	0.03933398	0.05411	0.03837457	0.03691	0.03933398	0.05410	0.03837457	0.03690	-1.776	0.02438	T	.	.	0.109	0.20934	B	.	.	1.453468	0.18750	13.90	0.8018896115564601	0.13086	0.25155	0.22613	N	AEFDBCI	0.061811	0.11841	N	-0.660501312999033	0.17155	0.8803503	-0.58908949163605	0.19777	1.062622	0.999961297655206	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.74	1.69	0.23290	1.261000	0.32582	1.539000	0.27214	0.597000	0.34315	0.993000	0.37899	0.011000	0.20116	0.668000	0.33194	0.0:0.5183:0.0:0.4817	6.938	0.23658	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	0.005056	0.000000	0.008174	0.014620	0.000000	0.000000	0.003067	0.000000	0.02632	1944.33	41	chr18	76441697	.	C	T	1944.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.644;DP=776;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.36;SOR=0.766	GT:AD:DP:GQ:PL	0/1:50,75:125:99:1958,0,1206	18	0	1	0
chr18	76910761	76910761	T	C	exonic	ZNF236	.	nonsynonymous SNV	ZNF236:NM_001306089:exon16:c.T2755C:p.F919L,ZNF236:NM_007345:exon16:c.T2749C:p.F917L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0104562950545	.	.	1.657e-05	0	0	0	0	1.499e-05	0	6.058e-05	1.29e-05	2	154602	rs780043215	3.42e-06	3.42e-06	1.361e-06	5.5e-06	4.637e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	0	4.637e-05	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.278	0.15613	T	0.388	0.15602	T	0.307	0.32716	B	0.079	0.28749	B	0.000007	0.62929	D	0.066402	0.991348	0.41366	D	2.19	0.61577	M	2.94	0.10101	T	-0.93	0.24898	N	0.356	0.39760	-1.1040	0.03640	T	0.031	0.13418	T	10	0.15801883	0.29725	T	0.010456	0.27023	T	0.105	0.29889	0.313	0.28774	0.339940258815	0.33601	0.10605124593021176	0.10535	0.95479271699	0.72763	0.734857916832	0.72217	T	0.023251	0.19862	T	-0.275923	0.11105	T	-0.452593	0.27410	T	0.515505075454712	0.33200	D	0.918208	0.70605	D	0.12430517	0.29169	0.10561447	0.25391	0.12430517	0.29169	0.10561447	0.25390	-2.247	0.04275	T	.	.	0.927	0.84779	P	.;.	.;.	2.825458	0.37236	20.4	0.98010412963401694	0.37551	0.98070	0.79343	D	AEFGBI	0.840685	0.75795	D	0.159615215302398	0.49267	3.129102	0.275171710906369	0.54094	3.575436	0.999998765559776	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.78	4.78	0.60666	7.469000	0.79964	4.138000	0.42071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0:0.0:1.0	14.626	0.68224	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1539.33	34	chr18	76910761	.	T	C	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.701;DP=762;ExcessHet=0;FS=2.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.429;SOR=0.62	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1553,0,1186	18	0	1	0
chr18	79714626	79714626	C	T	exonic	CTDP1	.	nonsynonymous SNV	CTDP1:NM_001202504:exon8:c.C809T:p.A270V,CTDP1:NM_001318511:exon8:c.C1166T:p.A389V,CTDP1:NM_004715:exon8:c.C1166T:p.A389V,CTDP1:NM_048368:exon8:c.C1166T:p.A389V	Congenital cataracts, facial dysmorphism, and neuropathy, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	656502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.010	.	0.0013	0.0127796	0.0163	0.0023	0.1267	0.0352	0.0031	0.0006	0.0075	0.0021	0.0134668	2082	154602	rs144647072	0.0050	0.0049	0.0055	0.0044	0.1111	0.0049	0.0048	0.1085	0.1074	0.0015	0.1111	0	0.0364	0.0029	0.0003	0.0001	0.0037	0.0029	0.0099	0.0099	0.0077	0.0122	0.0742	0.0095	0.0093	0.0706	0.0691	0.0027	0	0.0742	0	0.0350	0.0023	0	0.0003	0.0071	0.0048	0.216	0.19225	T	0.26	0.23029	T	0.003	0.19075	B	0.002	0.14941	B	0.693465	0.06160	N	1.167120	1	0.08975	N	1.1	0.28011	L	2.9	0.10101	T	-0.85	0.23156	N	0.018	0.01203	-0.9614	0.38916	T	0.004	0.01330	T	10	0.0018890202	0.00026	T	.	.	.	0.010	0.01040	.	.	.	.	0.15034124761110423	0.14956	0.127705555162	0.14400	0.424551963806	0.28463	T	0.050089	0.28495	T	-0.732062	0.00023	T	-0.727616	0.04437	T	0.00396095487575263	0.00042	T	0.662034	0.27102	T	0.01917842	0.00444	0.032774925	0.02066	0.018312987	0.00352	0.032774925	0.02066	-4.474	0.30547	T	.	.	0.074	0.06756	B	.;.;.;.	.;.;.;.	0.363462	0.07360	3.980	0.95942601702534847	0.28247	0.00820	0.03314	N	AEFDBI	0.018412	0.00556	N	-0.974596731307345	0.09149	0.4317957	-1.01865673427139	0.09375	0.4660551	0.906277623441708	0.26227	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.2	1.25	0.20475	-0.422000	0.07110	0.538000	0.19308	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5998:0.151:0.2492	6.090	0.19214	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1232.33	34	chr18	79714626	.	C	T	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.336;DP=715;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.276;SOR=0.554	GT:AD:DP:GQ:PL	0/1:36,47:83:99:1246,0,1109	18	0	1	0
chr19	2043512	2043512	T	C	exonic	MKNK2	.	nonsynonymous SNV	MKNK2:NM_017572:exon6:c.A410G:p.Q137R,MKNK2:NM_199054:exon6:c.A410G:p.Q137R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0529374613418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.27904	T	0.147	0.35455	T	0.994	0.66517	D	0.962	0.70672	D	0.000005	0.62929	D	0.064494	0.999997	0.58761	D	0.035	0.08059	N	-0.21	0.67187	T	-3.22	0.64939	D	0.756	0.75466	-0.4796	0.69381	T	0.317	0.68655	T	10	0.642084	0.69115	D	0.052937	0.65269	D	0.329	0.65126	0.557	0.67547	0.792332955411	0.79040	0.5924733915383549	0.59177	1.1526068558	0.79254	0.734321653843	0.72138	T	0.254284	0.62492	T	0.00488604	0.52325	T	-0.230758	0.51698	T	0.93515085624633	0.60316	D	0.893511	0.63097	D	0.64226	0.74952	0.44006446	0.67338	0.64226	0.74953	0.44006446	0.67338	-8.894	0.67012	D	.	.	0.351	0.61072	A	.;.;.	.;.;.	5.014171	0.83284	28.0	0.98726655076882464	0.45289	0.97814	0.77329	D	AEFDGBHCI	0.937616	0.93565	D	0.248819808649507	0.53580	3.526302	0.330352887779888	0.57330	3.898403	0.999999999999702	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.47	4.47	0.53770	7.906000	0.86803	7.848000	0.70832	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	11.708	0.50874	970	0.06235	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	870.33	36	chr19	2043512	.	T	C	870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.45;DP=711;ExcessHet=0;FS=5.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-1.108;SOR=0.405	GT:AD:DP:GQ:PL	0/1:24,37:61:99:884,0,623	18	0	1	0
chr19	2276327	2276327	C	T	exonic	PEAK3	.	nonsynonymous SNV	PEAK3:NM_198532:exon4:c.G775A:p.E259K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0131830353763	.	.	0.0001	0.0002	0	0	0	6.055e-05	0	0.0004	6.47e-05	10	154602	rs779918015	1.452e-05	1.436e-05	1.377e-05	1.528e-05	0.0003	9.33e-06	7.92e-06	8.916e-05	7.077e-05	0	0	0	0	0	0.0003	4.501e-06	1.664e-05	0.0002	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.284	0.15303	T	0.391	0.15456	T	0.879	0.48338	P	0.222	0.37884	B	.	.	.	.	1	0.08975	N	.	.	.	2.14	0.19450	T	-1.26	0.31778	N	0.342	0.38335	-1.0250	0.22083	T	0.033	0.14073	T	9	0.098031014	0.17696	T	0.013183	0.32380	T	0.090	0.26093	0.55	0.66576	0.488548280593	0.48485	0.6018341145044439	0.60114	0.535499396938	0.50915	.	.	.	0.010185	0.09221	T	-0.432165	0.01439	T	-0.552575	0.17078	T	0.0435382165014744	0.04337	T	0.676832	0.28555	T	0.09789576	0.23082	0.065584056	0.13315	0.09789576	0.23082	0.065584056	0.13314	-8.327	0.63277	D	.	.	0.276	0.50970	B	.	.	2.594256	0.33663	19.41	0.99505511046648243	0.68322	0.10969	0.16318	N	AEFDBHCI	0.078849	0.15917	N	-0.511812756630819	0.21698	1.153388	-0.681326102674962	0.17428	0.9266518	0.498202263130048	0.20920	0.679555	0.55442	0	0.573116	0.20632	0	0.600882	0.32295	2	0.508809	0.08732	0	.	.	2.52	0.098	0.13806	-0.139000	0.10338	2.407000	0.32622	0.599000	0.40250	0.000000	0.06391	0.988000	0.31051	0.006000	0.07323	0.2335:0.6158:0.0:0.1506	4.026	0.09172	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2090.33	33	chr19	2276327	.	C	T	2090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=766;ExcessHet=0;FS=3.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=-1.217;SOR=1.047	GT:AD:DP:GQ:PL	0/1:44,75:119:99:2104,0,1057	18	0	1	0
chr19	5719813	5719813	G	C	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_004793:exon1:c.C320G:p.P107R,LONP1:NM_001276479:exon2:c.C128G:p.P43R	CODAS syndrome, Autosomal recessive	0	224	1	0	1	2	0.00222717	.	.	.	1490293	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.233	0.0276939023904	.	.	9.646e-05	0	0	0.0001	0	3.216e-05	0.0012	0.0004	7.76e-05	12	154602	rs748759945	4.043e-05	4.036e-05	4.772e-05	3.306e-05	0.0002	3.184e-05	2.915e-05	7.127e-05	5.484e-05	0	2.239e-05	0	0	3.824e-05	0.0002	3.509e-05	8.297e-05	0.0001	3.942e-05	3.94e-05	2.569e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0.0002	0	0	5.88e-05	0	0	0.027	0.46513	D	0.027	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999976	0.81001	D	0.895	0.22405	L	2.3	0.49358	T	-3.39	0.66896	D	0.378	0.54932	-1.1320	0.01689	T	0.070	0.28544	T	10	0.6136944	0.67662	D	0.027694	0.50478	D	0.233	0.53499	.	.	0.508465569856	0.50487	0.49647314167670553	0.49568	1.10128899491	0.77738	0.751111030579	0.74611	T	0.510377	0.82678	D	-0.102383	0.36029	T	-0.08865	0.64263	T	0.697030663490295	0.40577	D	0.766023	0.39899	T	0.28784245	0.51791	0.20008379	0.43923	0.28784245	0.51791	0.20008379	0.43922	-7.211	0.55560	T	.	.	0.226	0.54012	B	.;.;.	.;.;.	4.967370	0.82174	27.7	0.99702554821166545	0.80729	0.91032	0.52727	D	AEFDBHCI	0.883685	0.81279	D	0.581288630428611	0.72009	5.738465	0.562714112613875	0.72286	5.786001	0.999999999938325	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.57	3.48	0.38946	8.339000	0.89949	8.184000	0.76782	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	0.0:0.0:0.8264:0.1736	11.901	0.51963	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1354.33	35	chr19	5719813	.	G	C	1354.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.644;DP=764;ExcessHet=0;FS=2.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.787;SOR=0.49	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1368,0,1425	18	0	1	0
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	105.98	126	chr19	8888087	.	A	G	105.98	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.48;DP=1674;ExcessHet=0.119;FS=18.536;InbreedingCoeff=-0.2073;MLEAC=3;MLEAF=0.15;MQ=59.53;MQRankSum=-5.897;QD=0.68;ReadPosRankSum=0;SOR=3.06	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,6:79:32:0|1:8888087_A_G:32,0,3047:8888087	8	0	2	9
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	8786.25	558	chr19	8888803	.	G	A	8786.25	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.756;DP=9279;ExcessHet=2.0135;FS=1.656;InbreedingCoeff=-0.2042;MLEAC=6;MLEAF=0.158;MQ=57.33;MQRankSum=-6.204;QD=3;ReadPosRankSum=1.62;SOR=0.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,49:318:99:0|1:8888803_G_A:1157,0,10637:8888803	13	0	6	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,41:267:99:0|1:8888826_T_*:1144,0,7939:8888826	2	0	17	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,12:147:98:0|1:8900009_C_T:98,0,5612:8900009	5	0	14	0
chr19	8962885	8962885	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G13885A:p.A4629T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.000695472116619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.723e-06	2.751e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	6.573e-06	6.567e-06	0	1.346e-05	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.411	0.10115	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-0.63	0.18459	N	0.012	0.00125	-0.9439	0.41992	T	0.005	0.01761	T	8	0.05693823	0.06461	T	6.95E-4	0.00418	T	0.032	0.07718	0.238	0.16912	0.0138822411134	0.00435	0.035836486923177154	0.03530	.	.	0.190365165472	0.00232	T	.	.	.	-0.458422	0.01005	T	-0.896268	0.00529	T	0.0305427921117564	0.02074	T	0.268673	0.04486	T	.	.	.	.	.	.	.	.	-4.259	0.27598	T	.	.	0.080	0.07745	B	.	.	-0.420511	0.02136	0.205	0.17758195122247919	0.00531	0.00118	0.00744	N	AEFBI	0.017450	0.00458	N	-1.86753010663333	0.00400	0.01719926	-1.95760046765582	0.00375	0.01657609	0.0042054694804888	0.10457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.55	-3.11	0.04975	-2.183000	0.01340	.	.	-0.591000	0.04649	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.5023:0.0:0.4977	8.241	0.30820	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1840.33	129	chr19	8962885	.	C	T	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.779;DP=2118;ExcessHet=0;FS=1.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=2.05;SOR=0.565	GT:AD:DP:GQ:PL	0/1:87,66:153:99:1854,0,2567	18	0	1	0
chr19	8979513	8979513	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.C1626G:p.S542R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00111623550104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.21	0.02664	T	-1.2	0.30555	N	0.113	0.10056	-0.9052	0.47424	T	0.005	0.01506	T	8	0.07426649	0.11332	T	0.001116	0.01336	T	0.095	0.27398	0.128	0.03331	0.0611884634855	0.05136	0.018430753165692287	0.01797	.	.	0.217821210623	0.01188	T	.	.	.	-0.266281	0.12175	T	-0.620271	0.11163	T	0.134409652495421	0.15784	T	0.240176	0.03436	T	.	.	.	.	.	.	.	.	-2.043	0.03347	T	.	.	0.577	0.67936	P	.	.	0.588127	0.09566	6.341	0.80063180321786698	0.13027	0.00746	0.03108	N	AEFBI	0.026121	0.01906	N	-0.741878462568604	0.14855	0.7435726	-0.890315785625268	0.12323	0.6331939	9.27988109101512E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.3	0.162	0.14269	0.151000	0.16101	.	.	0.373000	0.20310	0.000000	0.06391	0.000000	0.08366	0.503000	0.29084	0.0:0.0:0.4225:0.5775	4.087	0.09427	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	.	.	.	.	.	.	.	.	0.02632	1256.33	40	chr19	8979513	.	G	C	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.219;DP=1612;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.227;SOR=0.681	GT:AD:DP:GQ:PL	0/1:63,48:111:99:1270,0,1818	18	0	1	0
chr19	9758010	9758010	T	A	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.A680T:p.H227L,ZNF846:NM_001077624:exon6:c.A1067T:p.H356L,ZNF846:NM_001353799:exon6:c.A1064T:p.H355L	.	395	1120	7	0	0	7	0.00311526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.0115847110778	0.0063	0.00259585	0.0045	0.0013	0.0023	0.0002	0.0003	0.0070	0.0011	0.0018	0.0046959	726	154602	rs79195449	0.0072	0.0072	0.0073	0.0070	0.0094	0.0071	0.0070	0.0085	0.0085	0.0015	0.0019	0.0003	0	0.0007	0.0094	0.0087	0.0065	0.0024	0.0048	0.0048	0.0050	0.0046	0.0084	0.0045	0.0044	0.0078	0.0076	0.0016	0.0022	0.0033	0	0	0.0004	0.0136	0.0084	0.0095	0.0033	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.99	0.78936	D	.	.	.	.	1	0.81001	D	4.03	0.96931	H	-2.18	0.86722	D	-10.87	0.99235	D	0.569	0.59223	0.082	0.83846	D	0.778	0.92446	D	8	0.011049181	0.00243	T	0.011585	0.29347	T	0.547	0.81193	.	.	0.526486031964	0.52295	0.12134552205757543	0.12061	0.0750471914227	0.08422	0.590041160583	0.51499	T	0.286232	0.65902	T	-0.0204679	0.48787	T	0.20295	0.83288	D	0.127009606606211	0.15103	T	0.609039	0.23055	T	0.6991818	0.78012	0.5696994	0.75085	0.6991818	0.78013	0.5696994	0.75086	-11.551	0.82595	D	.	.	0.871	0.80947	P	.	.	2.823332	0.37201	20.4	0.96672777143995958	0.30668	0.00358	0.01837	N	AEFBHCI	0.177665	0.30491	N	0.354605625575247	0.58984	4.07415	0.0960950803817417	0.44351	2.718609	0.488696173875219	0.20844	0.615465	0.37627	0	0.588015	0.36545	0	0.463624	0.06942	0	0.655142	0.61905	0	.	.	2.01	2.01	0.25568	6.422000	0.73266	.	.	0.545000	0.25583	1.000000	0.71638	0.000000	0.08366	0.988000	0.63387	0.0:0.0:0.0:1.0	8.021	0.29573	906	0.23090	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1135.33	33	chr19	9758010	.	T	A	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.83;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-1.036;SOR=0.755	GT:AD:DP:GQ:PL	0/1:47,42:89:99:1149,0,1179	18	0	1	0
chr19	10335167	10335167	G	C	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320608:exon3:c.C53G:p.T18R,ICAM3:NM_001320606:exon4:c.C605G:p.T202R,ICAM3:NM_002162:exon4:c.C836G:p.T279R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0116836842045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.062	0.45318	T	0.968	0.56581	D	0.753	0.56122	P	0.532982	0.05268	N	1.256450	1	0.08975	N	2.67	0.78151	M	3.36	0.05918	T	-2.47	0.53898	N	0.367	0.40864	-1.0071	0.27819	T	0.034	0.14596	T	10	0.21016195	0.37402	T	0.011684	0.29546	T	0.132	0.35948	0.545	0.65873	0.254761474806	0.25079	0.371018136369762	0.37015	1.06362718786	0.76556	0.2926671803	0.09312	T	0.059076	0.31016	T	-0.15093	0.28166	T	-0.454577	0.27192	T	0.597249507904053	0.36292	D	0.816118	0.47137	T	0.22767696	0.45473	0.1598645	0.37263	0.22767696	0.45473	0.1598645	0.37262	-6.067	0.46836	T	.	.	0.082	0.13597	B	.;.;.	.;.;.	1.084378	0.14677	11.23	0.97021139293420999	0.32026	0.09186	0.14992	N	ALL	0.077776	0.15676	N	-0.435948980272202	0.24219	1.306188	-0.716260931189455	0.16556	0.8763899	0.999999999999937	0.74766	0.72623	0.87236	0	0.697927	0.68747	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.61	-3.53	0.04369	-0.309000	0.08185	-0.431000	0.09221	0.676000	0.76740	0.003000	0.16062	0.000000	0.08366	0.106000	0.18562	0.3503:0.0:0.3666:0.2831	3.400	0.06897	758	0.50837	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1874.33	33	chr19	10335167	.	G	C	1874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.417;DP=795;ExcessHet=0;FS=4.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.628;SOR=0.902	GT:AD:DP:GQ:PL	0/1:81,75:156:99:1888,0,2142	18	0	1	0
chr19	10366456	10366456	C	T	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon6:c.G590A:p.R197H,TYK2:NM_001385198:exon6:c.G590A:p.R197H,TYK2:NM_001385199:exon6:c.G590A:p.R197H,TYK2:NM_001385200:exon6:c.G590A:p.R197H,TYK2:NM_001385201:exon6:c.G590A:p.R197H,TYK2:NM_001385202:exon6:c.G590A:p.R197H,TYK2:NM_001385203:exon6:c.G590A:p.R197H,TYK2:NM_001385204:exon6:c.G590A:p.R197H,TYK2:NM_001385205:exon6:c.G590A:p.R197H,TYK2:NM_001385206:exon6:c.G590A:p.R197H,TYK2:NM_001385207:exon6:c.G590A:p.R197H,TYK2:NM_003331:exon6:c.G590A:p.R197H	Immunodeficiency 35, Autosomal recessive	2	1515	4	1	0	6	0.00197628	.	.	.	332375	not_specified|not_provided|Immunodeficiency_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0090	0.00938498	0.0027	0.0278	0.0015	0	0	0.0003	0.0022	6.059e-05	0.0026714	413	154602	rs12720263	0.0011	0.0011	0.0012	0.0010	0.0273	0.0011	0.0010	0.0258	0.0252	0.0273	0.0023	0	0	0	0.0016	0.0004	0.0024	0.0003	0.0080	0.0080	0.0081	0.0078	0.0268	0.0076	0.0074	0.0255	0.0249	0.0268	0	0.0039	0	0	0	0.0034	0.0004	0.0047	0.0006	0.09	0.32610	T	0.104	0.39799	T	0.004	0.19866	B	0.002	0.10090	B	0.023890	0.01601	N	2.277090	1	0.08975	N	0.255	0.09829	N	0.94	0.75553	T	0.1	0.05810	N	0.053	0.02462	-0.9303	0.44095	T	0.058	0.24279	T	10	0.0028371513	0.00045	T	.	.	.	0.031	0.07369	.	.	0.428401797576	0.42457	0.06138609372846985	0.06078	0.32854930742	0.34960	0.193035632372	0.00283	T	0.08764	0.37986	T	-0.558309	0.00260	T	-0.554477	0.16898	T	0.00324237652524948	0.00034	T	0.388561	0.18203	T	0.03545375	0.04175	0.029415097	0.01278	0.04159482	0.06155	0.025592467	0.00610	-6.448	0.49884	T	.	.	0.069	0.04119	B	.;.;.;.	.;.;.;.	0.533609	0.09024	5.805	0.93250761938266413	0.22940	0.02345	0.06697	N	AEFDGBI	0.059691	0.11293	N	-1.40260577300493	0.02616	0.115762	-1.46404052651719	0.02645	0.1220416	0.998350821569065	0.36814	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.15	-5.61	0.02291	-1.953000	0.01617	-1.076000	0.06405	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.3714:0.1102:0.5184	7.907	0.28932	764	0.49969	FERM domain|Band 4.1 domain;FERM domain;FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.005051	0.008152	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	955.33	35	chr19	10366456	.	C	T	955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.553;DP=769;ExcessHet=0;FS=2.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.851;SOR=0.446	GT:AD:DP:GQ:PL	0/1:34,38:72:99:969,0,884	18	0	1	0
chr19	10559668	10559668	C	T	exonic	KRI1	.	nonsynonymous SNV	KRI1:NM_023008:exon11:c.G968A:p.R323H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0231981480108	0.0007	0.00119808	0.0003	0.0034	8.645e-05	0	0	2.999e-05	0	6.056e-05	0.0003363	52	154602	rs141486227	0.0001	0.0001	0.0001	0.0001	0.0035	9.805e-05	9.221e-05	0.0030	0.0028	0.0035	0.0004	0	0	0	0	5.396e-06	0.0004	2.319e-05	0.0011	0.0011	0.0010	0.0012	0.0037	0.0009	0.0009	0.0032	0.0030	0.0037	0	0.0007	0	0	0	0	1.471e-05	0.0005	0	0.013	0.53900	D	0.052	0.47581	T	.	.	.	.	.	.	0.003728	0.34560	N	0.257927	0.713764	0.29988	N	.	.	.	2.86	0.10482	T	-4.07	0.74661	D	0.317	0.35727	-0.8973	0.48264	T	0.075	0.30272	T	10	0.011228055	0.00246	T	0.023198	0.46147	T	0.075	0.21907	.	.	0.572896914645	0.56956	.	.	0.273545580838	0.29852	0.45495980978	0.32622	T	.	.	.	-0.455804	0.01043	T	-0.428664	0.30086	T	0.0951481585420156	0.11815	T	0.927407	0.73262	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.605398	0.72986	25.9	0.99947579161323352	0.99923	0.93145	0.57443	D	AEFBI	0.364329	0.45291	N	0.507103092892915	0.67509	5.091135	0.414402288724851	0.62461	4.461907	0.972336706179464	0.29362	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	4.21	0.48984	3.377000	0.52156	3.275000	0.37188	0.549000	0.26987	0.660000	0.28260	0.998000	0.33993	0.741000	0.35472	0.0:0.9198:0.0:0.0802	13.143	0.58865	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1123.33	40	chr19	10559668	.	C	T	1123.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.231;DP=1044;ExcessHet=0;FS=3.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.131;SOR=0.934	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1137,0,1101	18	0	1	0
chr19	11350957	11350957	C	G	exonic	CCDC159	.	nonsynonymous SNV	CCDC159:NM_001080503:exon5:c.C376G:p.R126G	.	393	1126	3	0	0	3	0.00133038	.	.	.	2213536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0378112998232	.	0.000199681	0.0001	0	0	0	0	0.0001	0	0.0001	5.82e-05	9	154602	rs540037522	5.707e-05	5.746e-05	6.197e-05	5.204e-05	0.0009	4.668e-05	4.325e-05	0.0003	0.0002	0	8.333e-05	0	5.56e-05	0	0.0009	5.643e-05	0.0001	3.781e-05	5.255e-05	5.25e-05	2.571e-05	8.061e-05	0.0002	2.557e-05	1.83e-05	3.762e-05	2.575e-05	0	0	0	0	0.0002	0	0.0034	8.821e-05	0	0	0.005	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.65	0.52642	T	-2.26	0.50502	N	0.311	0.35088	-0.8897	0.48960	T	0.208	0.56785	T	9	0.12535357	0.23821	T	0.037811	0.57842	D	0.175	0.44197	.	.	0.40318662893	0.39936	0.1412183228681275	0.14044	0.481733051228	0.47150	0.354570448399	0.18592	T	.	.	.	-0.210082	0.19368	T	-0.334039	0.41019	T	0.111858493097889	0.13615	T	0.751225	0.37284	T	0.2457368	0.47535	0.2518081	0.50798	0.2457368	0.47534	0.2518081	0.50797	-4.55	0.31538	T	.	.	0.225	0.45702	B	.;.;.;.;.	.;.;.;.;.	2.438928	0.31384	18.73	0.98968582642486547	0.49481	0.29526	0.23845	N	AEFBI	0.335465	0.43390	N	-0.193337827270217	0.33412	1.895219	-0.277721751257906	0.28834	1.610748	0.999865595503967	0.44398	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.87	4.87	0.62877	2.855000	0.48032	.	.	0.544000	0.25403	0.094000	0.22667	0.004000	0.18990	0.115000	0.18958	0.0:1.0:0.0:0.0	13.574	0.61328	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	0.004128	0.000000	0.008333	0.008982	0.000000	0.000000	0.000000	0.000000	0.02632	325.33	29	chr19	11350957	.	C	G	325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.502;DP=618;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.55;SOR=0.765	GT:AD:DP:GQ:PL	0/1:9,14:23:99:339,0,211	18	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15365.4	34	chr19	12430730	.	A	*	15365.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.331;DP=3014;ExcessHet=1.1637;FS=3.239;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=58.32;MQRankSum=-4.846;QD=12.05;ReadPosRankSum=0.056;SOR=0.515	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,44:104:99:0|1:12430718_C_A:1667,0,2360:12430718	15	0	4	0
chr19	12580820	12580820	C	T	exonic	ZNF490	.	nonsynonymous SNV	ZNF490:NM_020714:exon5:c.G1255A:p.E419K	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0102	0.00519169	0.0025	0.0263	0.0010	0	0	0.0002	0.0033	0.0002	0.0022703	351	154602	rs73497762	0.0011	0.0011	0.0013	0.0010	0.0263	0.0011	0.0011	0.0249	0.0243	0.0263	0.0013	0	7.557e-05	0	0.0005	0.0005	0.0018	0.0002	0.0079	0.0079	0.0082	0.0076	0.0261	0.0075	0.0074	0.0248	0.0243	0.0261	0	0.0049	0	0	0	0.0034	0.0003	0.0076	0.0004	0.267	0.16198	T	0.167	0.30729	T	0.024	0.19075	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	-0.05	0.04954	N	2.16	0.19166	T	-2.78	0.58896	D	0.098	0.07949	-0.9814	0.34678	T	0.007	0.02598	T	9	0.0042211413	0.00084	T	.	.	.	0.029	0.06676	.	.	0.0920862733494	0.08535	0.02642164379164722	0.02592	0.530034928815	0.50556	0.214114382863	0.00998	T	0.224188	0.58855	T	-0.759943	0.00015	T	-0.843432	0.01048	T	0.0173577493468019	0.00474	T	0.166083	0.01539	T	0.16061619	0.36015	0.15576191	0.36496	0.16061619	0.36014	0.15576191	0.36496	-5.002	0.36861	T	.	.	0.086	0.10739	B	.	.	0.898110	0.12718	9.240	0.97480544227793708	0.34188	0.00006	0.00120	N	AEFGBCI	0.020339	0.00793	N	-1.30915074234941	0.03569	0.1596913	-1.35014961842851	0.03804	0.1781894	0.271765874432834	0.18899	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	0.996	-0.238	0.12411	-3.705000	0.00435	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.2342:0.2985:0.4673:0.0	4.267	0.10216	873	0.30802	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	1789.33	36	chr19	12580820	.	C	T	1789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=751;ExcessHet=0;FS=3.251;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.322;SOR=0.439	GT:AD:DP:GQ:PL	0/1:59,66:125:99:1803,0,1430	18	0	1	0
chr19	13952558	13952558	G	T	exonic	DCAF15	.	nonsynonymous SNV	DCAF15:NM_138353:exon1:c.G46T:p.G16C	.	363	1157	2	0	0	2	0.000863558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.32625998677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1019553364	1.799e-06	6.158e-06	1.714e-06	1.894e-06	4.119e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.073e-06	0	4.119e-05	1.32e-05	1.314e-05	1.29e-05	1.352e-05	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	0.011	0.55530	D	0.023	0.57104	D	0.003	0.11197	B	0.005	0.11217	B	0.147757	0.18071	U	0.436522	0.999306	0.81001	N	0.55	0.14455	N	.	.	.	-0.35	0.12847	N	0.251	0.28381	-1.0060	0.28156	T	0.072	0.29195	T	9	0.12015781	0.22754	T	0.32626	0.91621	D	0.159	0.41286	0.292	0.25400	0.082315109003	0.07666	0.346773224911592	0.34591	2.03166776097	0.94115	0.924069643021	0.98617	D	0.008771	0.08027	T	0.104336	0.64757	D	-0.0879048	0.64320	T	0.715667366981506	0.41480	D	0.523548	0.17131	T	0.21575762	0.44017	0.22494829	0.47423	0.21575762	0.44017	0.22494829	0.47422	-7.183	0.55359	T	.	.	0.245	0.47901	B	.	.	5.047053	0.84037	28.2	0.9968920737143524	0.79842	0.65844	0.32874	D	AEFGBHCIJ	0.136132	0.25670	N	-0.284367265935773	0.29752	1.652699	-0.149457570516949	0.33430	1.912142	0.999999737933758	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.01	2.96	0.33383	2.805000	0.47636	11.123000	0.86598	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8017:0.1983	10.289	0.42762	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	81.33	14	chr19	13952558	.	G	T	81.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.003;DP=520;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=-0.487;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,4:12:95:95,0,230	18	0	1	0
chr19	15886018	15886018	G	C	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon9:c.C1021G:p.L341V	.	411	1084	26	1	0	28	0.0127505	.	.	.	704833	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.699	.	0.0060	0.00419329	0.0062	0.0021	0.0031	0.0001	0.0008	0.0063	0.0066	0.0163	0.0060413	934	154602	rs145174239	0.0077	0.0077	0.0075	0.0080	0.0186	0.0076	0.0076	0.0178	0.0175	0.0010	0.0021	0.0047	7.559e-05	0.0007	0.0069	0.0081	0.0072	0.0186	0.0044	0.0044	0.0047	0.0041	0.0168	0.0041	0.0040	0.0138	0.0128	0.0014	0	0.0015	0.0046	0	0.0008	0.0068	0.0069	0.0047	0.0168	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.989	0.78396	D	0.002566	0.36316	U	0.114432	0.994504	0.81001	D	2.79	0.81396	M	-1.62	0.82347	D	-2.68	0.57275	D	0.698	0.71232	0.366	0.88577	D	0.620	0.86601	D	10	0.018367171	0.00399	T	.	.	.	0.699	0.89145	.	.	0.837326604958	0.83577	0.45305162405527605	0.45223	0.555825171214	0.52270	0.476655632257	0.35597	T	0.232528	0.59911	T	-0.254065	0.13604	T	-0.124097	0.61464	T	0.0169988288199589	0.00449	T	0.979882	0.93225	D	0.68260014	0.77110	0.60884553	0.77252	0.68260014	0.77111	0.60884553	0.77253	-14.267	0.93892	D	.	.	0.207	0.47426	B	.;.	.;.	4.334332	0.66445	25.0	0.99563787630366185	0.71953	0.85960	0.45156	D	AEFGBHCI	0.489770	0.52753	N	0.39751527528306	0.61287	4.327766	0.236712511244455	0.51897	3.368392	0.00349903763124352	0.10145	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.63	2.63	0.30420	2.449000	0.44592	.	.	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.772000	0.36596	0.0:0.0:1.0:0.0	10.964	0.46613	976	0.04745	.;.	.	.	.	.	.	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	0.003171	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	2342.33	36	chr19	15886018	.	G	C	2342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.192;DP=1363;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.536;SOR=0.608	GT:AD:DP:GQ:PL	0/1:72,94:166:99:2356,0,1917	18	0	1	0
chr19	16925214	16925214	T	C	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon26:c.A3529G:p.T1177A	Anterior segement dysgenesis 8, Autosomal recessive	413	1102	7	0	0	7	0.00316599	.	.	.	741685	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	.	0.00758786	0.0046	0.0001	0	0.0003	0	8.993e-05	0.0056	0.0326	0.0039909	617	154602	rs200617730	0.0019	0.0019	0.0011	0.0027	0.0300	0.0019	0.0018	0.0291	0.0287	8.961e-05	0	0	0.0002	0	0.0012	6.385e-05	0.0024	0.0300	0.0010	0.0010	0.0007	0.0013	0.0292	0.0008	0.0008	0.0253	0.0238	2.405e-05	0	0	0	0.0004	0	0	2.94e-05	0	0.0292	.	.	.	0.221	0.25827	T	.	.	.	.	.	.	0.000001	0.62929	U	0.000000	0.994906	0.23416	N	.	.	.	1.22	0.37052	T	.	.	.	0.16	0.16725	-1.0717	0.09043	T	0.100	0.37213	T	9	0.0048716962	0.00104	T	.	.	.	.	.	.	.	0.389750110748	0.38591	.	.	0.138844385288	0.15659	0.580688238144	0.50183	T	.	.	.	-0.536054	0.00354	T	-0.519783	0.20315	T	0.0276823399719816	0.01642	T	0.622538	0.23960	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.965650	0.13426	9.931	0.97273983290207411	0.33149	0.65643	0.32806	D	AEFBI	0.147588	0.27129	N	-0.177634607259707	0.34066	1.94008	-0.203300304288481	0.31417	1.777824	1.27352735867776E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	2.66	1.62	0.22817	2.375000	0.43938	0.384000	0.17813	-0.200000	0.08971	0.998000	0.41325	0.300000	0.24215	0.270000	0.23768	0.0:0.2383:0.0:0.7617	5.603	0.16646	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	0.004028	0.000000	0.001359	0.000000	0.050000	0.000000	0.006098	0.011364	0.02632	569.33	37	chr19	16925214	.	T	C	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=677;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.67;SOR=0.976	GT:AD:DP:GQ:PL	0/1:23,21:44:99:583,0,532	18	0	1	0
chr19	17198212	17198212	G	A	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon24:c.G4142A:p.R1381Q,MYO9B:NM_004145:exon24:c.G4142A:p.R1381Q	.	.	.	.	.	.	.	.	.	.	.	2356803	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0424874231924	.	.	0.0003	0.0001	0	0.0001	0	0.0004	0.0011	0	0.0002199	34	154602	rs749597376	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	0.0003	4.473e-05	0.0066	5.038e-05	0	0.0007	5.756e-05	0.0003	2.319e-05	0.0001	0.0001	0.0002	9.417e-05	0.0002	9.151e-05	7.706e-05	.	.	2.412e-05	0	6.551e-05	0.0049	0.0002	0	0	1.47e-05	0	0	0.356	0.12070	T	0.546	0.09655	T	.	.	.	.	.	.	0.629831	0.05805	N	1.308480	1	0.08975	N	0.69	0.16971	N	-1.8	0.83893	D	-0.68	0.19509	N	0.136	0.13341	-0.8958	0.48408	T	0.236	0.60343	T	10	0.0063654184	0.00144	T	0.042487	0.60489	D	0.119	0.33137	.	.	0.61150466692	0.60837	0.3673305287611773	0.36647	0.390898975004	0.40290	0.296570122242	0.09891	T	0.019421	0.15476	T	-0.354979	0.04422	T	-0.521977	0.20094	T	0.0127352614054067	0.00215	T	0.90061	0.65471	D	.	.	.	.	.	.	.	.	-4.126	0.25672	T	.	.	0.070	0.05188	B	.;.;.;.	.;.;.;.	0.972717	0.13500	10.02	0.89705627204132876	0.19028	0.01371	0.04680	N	AEFGBI	0.043061	0.06759	N	-1.32084790381919	0.03437	0.1535359	-1.37289437604084	0.03543	0.1655007	6.37705808237865E-4	0.07505	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.74	-2.73	0.05599	0.053000	0.14067	0.164000	0.15440	-0.326000	0.05813	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2071:0.3041:0.157:0.3319	0.394	0.00387	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	873.33	33	chr19	17198212	.	G	A	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.271;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.335;SOR=0.68	GT:AD:DP:GQ:PL	0/1:46,37:83:99:887,0,1167	18	0	1	0
chr19	17211769	17211769	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon39:c.C6053T:p.S2018L,MYO9B:NM_004145:exon39:c.C6053T:p.S2018L	.	367	1108	46	1	0	48	0.0212014	.	.	.	704845	MYO9B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.190	.	0.0050	0.00319489	0.0060	0.0005	0.0026	0	0.0085	0.0070	0.0070	0.0097	0.0055627	860	154602	rs199695802	0.0056	0.0056	0.0054	0.0059	0.0210	0.0055	0.0055	0.0180	0.0168	0.0008	0.0030	0.0151	2.519e-05	0.0091	0.0210	0.0051	0.0073	0.0104	0.0044	0.0044	0.0042	0.0047	0.0104	0.0042	0.0041	0.0081	0.0073	0.0011	0	0.0043	0.0141	0	0.0082	0.0102	0.0053	0.0057	0.0104	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	0.412285	0.04598	N	1.514930	1	0.08975	N	1.78	0.46185	L	-1.96	0.85091	D	-2.12	0.48184	N	0.183	0.22998	-0.7710	0.56803	T	0.282	0.65399	T	10	0.0070744455	0.00161	T	.	.	.	0.190	0.46781	.	.	0.479185464739	0.47547	0.39954179086188857	0.39869	0.291571434391	0.31565	0.432612478733	0.29566	T	0.022428	0.18153	T	-0.478053	0.00759	T	-0.451505	0.27530	T	0.0266004429926373	0.01488	T	0.727427	0.39899	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.062	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	1.720961	0.21908	15.40	0.98264130253596449	0.39694	0.46924	0.27868	N	AEFBI	0.280645	0.39441	N	-0.973295880863492	0.09177	0.433247	-0.968848972364462	0.10489	0.5286096	0.0025240548006917	0.09503	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	0.090	0.13772	2.996000	0.49137	-0.581000	0.08376	-0.781000	0.03322	0.027000	0.20232	0.000000	0.08366	0.856000	0.40543	0.0:0.6136:0.1429:0.2435	5.497	0.16099	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.005102	0.019022	0.032164	0.050000	0.034483	0.024390	0.030303	0.02632	882.33	39	chr19	17211769	.	C	T	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=725;ExcessHet=0;FS=5.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.513;SOR=0.956	GT:AD:DP:GQ:PL	0/1:43,34:77:99:896,0,1053	18	0	1	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3880.44	40	chr19	17286688	.	GTGTT	*	3880.44	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.372;DP=1140;ExcessHet=2.8292;FS=10.141;InbreedingCoeff=-0.1312;MLEAC=4;MLEAF=0.105;MQ=59.99;MQRankSum=0;QD=7.89;ReadPosRankSum=1.3;SOR=0.297	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,18:51:99:.:.:700,0,1121:.	15	0	4	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,24:50:99:.:.:898,0,1060:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	1/0:0,24:46:99:2798,1010,865	4	6	8	1
chr19	18280985	18280985	-	CGGCGGCGG	exonic	JUND	.	nonframeshift insertion	JUND:NM_001286968:exon1:c.370_371insCCGCCGCCG:p.A123_G124insAAA,JUND:NM_005354:exon1:c.499_500insCCGCCGCCG:p.A166_G167insAAA	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0	0	0	0	0	0.0019	0.0001153	3	26028	rs529130306	0.0002	0.0001	0.0002	0.0002	0.0042	0.0002	0.0002	0.0035	0.0033	0	0	0	0	0	0.0025	8.75e-05	0.0002	0.0042	0.0002	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0024	0.0020	0	0	6.79e-05	0	0	0	0	9.152e-05	0	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	222.3	25	chr19	18280985	.	C	CCGGCGGCGG	222.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=388;ExcessHet=0;FS=6.154;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=-1.18;SOR=2.258	GT:AD:DP:GQ:PL	0/1:5,6:11:99:236,0,193	18	0	1	0
chr19	35511468	35511468	A	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	903.11	81	chr19	35511468	.	A	*	903.11	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.624;DP=1036;ExcessHet=0.1204;FS=1.808;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-1.292;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,17:41:99:0|1:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:648,0,898:35511459	13	2	4	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	699.14	81	chr19	35511491	.	C	*	699.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.41;DP=1048;ExcessHet=0.1204;FS=1.128;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.413;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,17:41:99:0|1:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:648,0,898:35511459	13	2	4	0
chr19	35511519	35511519	A	0	exonic	DMKN	.	.	.	.	467	923	28	1	103	133	0.0159915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1193.29	48	chr19	35511519	.	A	*	1193.29	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.49;DP=796;ExcessHet=0.3672;FS=1.325;InbreedingCoeff=-0.1143;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.131;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,15:34:99:1|0:35511459_ACTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG_A:573,0,748:35511459	16	0	2	1
chr19	39247152	39247152	T	C	exonic	IFNL4	.	unknown	UNKNOWN	.	472	1045	5	0	0	5	0.00238663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	0	0	.	.	0.0001921	5	26028	rs779150519	0.0005	0.0004	0.0005	0.0005	0.0011	0.0005	0.0005	0.0008	0.0006	0.0001	0	0	3.77e-05	0.0003	0	0.0005	0.0009	0.0011	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0002	0	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	258.33	36	chr19	39247152	.	T	C	258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=630;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.726;SOR=1.071	GT:AD:DP:GQ:PL	0/1:20,10:30:99:272,0,550	18	0	1	0
chr19	39877853	39877860	AGATGAAA	-	exonic	FCGBP	.	frameshift deletion	FCGBP:NM_003890:exon21:c.9245_9252del:p.L3082Rfs*16	.	471	1043	7	1	0	9	0.00429594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0152	0.0097	0.0163	0.0060	0.0176	0.0155	0.0161	0.0205	.	.	.	rs779214005	2.721e-05	0.0013	1.741e-05	3.717e-05	0.0001	1.95e-05	1.699e-05	4.935e-05	3.629e-05	0	0.0001	0	0	6.429e-05	0	1.802e-05	2.389e-05	0.0001	5.593e-05	0.0012	4.107e-05	7.143e-05	0.0001	2.701e-05	1.934e-05	2.419e-05	9.66e-06	2.459e-05	0.0012	0.0001	0	0	0.0001	0	4.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	304.9	6	chr19	39877852	.	CAGATGAAA	C	304.9	.	AC=3;AF=0.079;AN=38;DP=2501;ExcessHet=0;FS=5.229;InbreedingCoeff=0.6326;MLEAC=3;MLEAF=0.079;MQ=38.27;MQRankSum=-0.319;QD=30.49;SOR=1.996	GT:AD:DP:GQ:PL	0/1:1,3:4:24:101,0,24	17	1	1	0
chr19	39877858	39877858	A	0	exonic	FCGBP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	109802.0	6	chr19	39877858	.	A	*	109802.0	.	AC=3;AF=0.079;AN=38;DP=2584;ExcessHet=0;FS=0;InbreedingCoeff=-0.0269;MLEAC=3;MLEAF=0.079;MQ=56.91;QD=29.39;SOR=0.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,3:4:24:.:.:101,0,24:.	17	1	1	0
chr19	39877859	39877859	A	0	exonic	FCGBP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	108823.0	6	chr19	39877859	.	A	*	108823.0	.	AC=3;AF=0.079;AN=38;DP=2581;ExcessHet=0;FS=0;InbreedingCoeff=-0.0269;MLEAC=3;MLEAF=0.079;MQ=56.73;QD=27.81;SOR=0.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,3:4:24:.:.:101,0,24:.	17	1	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,14:29:99:0|1:40667975_C_T:539,0,563:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,14:29:99:0|1:40667975_C_T:539,0,563:40667975	1	7	11	0
chr19	40880542	40880542	C	T	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon2:c.G277A:p.G93S,CYP2A7:NM_000764:exon3:c.G430A:p.G144S	.	5	1514	3	0	0	3	0.000989772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00863588213549	7.7e-05	0.000998403	0.0008	0	0	0	0	0	0.0011	0.0057	0.0006339	98	154602	rs199894834	0.0003	0.0003	0.0002	0.0005	0.0053	0.0003	0.0003	0.0049	0.0047	0	0	0	0	0	0.0003	2.43e-05	0.0004	0.0053	0.0002	0.0002	0.0001	0.0003	0.0061	0.0001	0.0001	0.0044	0.0038	0	0	0	0	0	0	0.0034	1.481e-05	0	0.0061	1.0	0.00964	T	1.0	0.01155	T	0.644	0.40509	P	0.605	0.50945	P	0.000039	0.55875	U	0.124358	1	0.08975	N	-0.025	0.05070	N	-0.19	0.65931	T	1.38	0.00857	N	0.228	0.25745	-0.8975	0.48244	T	0.074	0.29865	T	10	0.0064940155	0.00147	T	0.008636	0.22829	T	0.078	0.22779	.	.	0.396794106654	0.39292	0.647765513325087	0.64711	0.110342344134	0.12451	0.319042921066	0.13275	T	0.001441	0.00900	T	-0.533046	0.00369	T	-0.53668	0.18623	T	0.0434803324353541	0.04326	T	0.768323	0.39714	T	0.116999455	0.27589	0.11246874	0.27136	0.116999455	0.27589	0.11246874	0.27136	-1.617	0.02022	T	.	.	0.132	0.28578	B	.;.	.;.	0.768529	0.11385	7.998	0.86662901732762376	0.16687	0.02636	0.07232	N	AEFDBHCI	0.088470	0.17937	N	-1.38375240663111	0.02790	0.1237016	-1.40234898001004	0.03228	0.1501711	0.266542387405084	0.18847	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	2.22	1.14	0.19817	-2.795000	0.00834	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.245:0.448:0.0:0.307	2.255	0.03805	561	0.71236	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1904.33	119	chr19	40880542	.	C	T	1904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.631;DP=1367;ExcessHet=0;FS=7.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=4.44;QD=16;ReadPosRankSum=1.87;SOR=0.73	GT:AD:DP:GQ:PL	0/1:45,74:119:99:1918,0,1017	18	0	1	0
chr19	41122096	41122096	G	A	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon6:c.G785A:p.R262Q	.	420	1084	16	2	0	20	0.00914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0614384710204	.	.	0.0011	0	0.0004	0.0004	0	0.0011	0.0013	0.0030	0.0001811	28	154602	rs200744662	0.0034	0.0058	0.0029	0.0039	0.0130	0.0034	0.0033	0.0123	0.0121	0.0005	0.0021	0.0109	0.0065	0.0043	0.0044	0.0025	0.0040	0.0130	0.0064	0.0076	0.0065	0.0063	0.0202	0.0060	0.0059	0.0169	0.0156	0.0012	0	0.0047	0.0226	0.0028	0.0059	0.0102	0.0085	0.0049	0.0202	0.11	0.29158	T	0.128	0.34959	T	0.93	0.51791	P	0.132	0.33005	B	0.000541	0.43413	U	0.184114	0.972435	0.25601	N	1.395	0.35261	L	-0.52	0.70717	T	-2.96	0.61722	D	0.205	0.22742	-0.8056	0.54813	T	0.218	0.58046	T	10	0.01528573	0.00321	T	0.061438	0.68330	D	0.252	0.56159	.	.	0.842719015457	0.84121	0.24663746454543894	0.24577	0.387230448795	0.40004	0.364863872528	0.20092	T	0.025665	0.19147	T	-0.440185	0.01290	T	-0.39711	0.33722	T	0.045873422260574	0.04761	T	0.940606	0.77652	D	0.20882948	0.43131	0.20006733	0.43920	0.20882948	0.43131	0.20006733	0.43919	-5.221	0.39155	T	.	.	0.087	0.11269	B	.	.	2.812654	0.37031	20.4	0.99689659939353592	0.79842	0.87385	0.46908	D	AEFDBI	0.202491	0.32907	N	0.0244201948063	0.42968	2.599047	-0.0343275468314328	0.38176	2.245452	0.00750451562744449	0.11482	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.21	0.855	0.18150	3.003000	0.49192	0.905000	0.22581	0.292000	0.18798	0.905000	0.31549	0.002000	0.18203	0.457000	0.28051	0.0:0.1845:0.6281:0.1874	7.022	0.24097	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006425	0.000000	0.002747	0.012712	0.000000	0.000000	0.003521	0.016260	0.02632	736.33	34	chr19	41122096	.	G	A	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.47;DP=1114;ExcessHet=0;FS=7.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.76;MQRankSum=-7.123;QD=5.19;ReadPosRankSum=-2.02;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,27:142:99:0|1:41122096_G_A:750,0,4606:41122096	18	0	1	0
chr19	41201351	41201351	A	G	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon6:c.A955G:p.M319V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00326142955321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.191	0.46182	T	0.001	0.07471	B	0.003	0.08700	B	0.007363	0.31436	N	0.256239	1	0.08975	N	0.36	0.11994	N	-0.37	0.68892	T	-2.22	0.49846	N	0.135	0.13198	-1.0448	0.15884	T	0.100	0.37111	T	10	0.115273505	0.21713	T	0.003261	0.07207	T	0.081	0.23632	0.587	0.71497	0.12205267543	0.11705	0.624329636370602	0.62365	0.295483189087	0.31953	0.334277749062	0.15578	T	0.088974	0.38272	T	-0.295183	0.09122	T	-0.661786	0.08146	T	0.131730914115906	0.15541	T	0.775622	0.45008	T	0.18572746	0.39949	0.1428974	0.33979	0.18572746	0.39949	0.1428974	0.33978	-6.026	0.46497	T	.	.	0.13	0.40984	B	.;.	.;.	1.625583	0.20758	14.90	0.81640981145530156	0.13786	0.02764	0.07458	N	AEFBI	0.043651	0.06928	N	-1.17474622427641	0.05383	0.2453079	-1.14911421330431	0.06784	0.327718	0.00487994355255602	0.10746	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	5.2	-2.55	0.05922	-1.147000	0.03298	-0.117000	0.11764	-0.118000	0.14412	0.000000	0.06391	0.002000	0.18203	0.987000	0.62547	0.3917:0.3337:0.1202:0.1544	1.996	0.03246	603	0.67726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1795.33	39	chr19	41201351	.	A	G	1795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.99;DP=839;ExcessHet=0;FS=2.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.739;SOR=0.456	GT:AD:DP:GQ:PL	0/1:42,76:118:99:1809,0,977	18	0	1	0
chr19	41892723	41892723	T	C	exonic	ARHGEF1	.	nonsynonymous SNV	ARHGEF1:NM_198977:exon6:c.T389C:p.M130T,ARHGEF1:NM_004706:exon7:c.T488C:p.M163T,ARHGEF1:NM_199002:exon7:c.T533C:p.M178T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.663824101816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	0.983	0.60733	D	0.947	0.71530	D	0.000011	0.62929	D	0.104739	0.873757	0.35613	D	2.74	0.80084	M	-1.76	0.83578	D	-4.37	0.77554	D	0.647	0.79889	0.530	0.90962	D	0.658	0.88129	D	10	0.8488637	0.84059	D	0.663824	0.97181	D	0.636	0.86078	0.681	0.81885	0.848769675085	0.84732	0.6166155986214974	0.61593	0.702002171826	0.61195	0.783466815948	0.79452	T	0.699815	0.91347	D	0.165345	0.70694	D	-0.000269884	0.70319	D	0.986820638179779	0.77449	D	0.865813	0.56549	D	0.90985525	0.92281	0.7548901	0.85514	0.90985525	0.92282	0.7548901	0.85515	-7.116	0.66531	T	.	.	0.967	0.95290	P	.;.;.;.;.	.;.;.;.;.	4.372296	0.67324	25.1	0.98945856628465223	0.49036	0.69858	0.34355	D	AEFDBHCI	0.310924	0.41680	N	0.477523787221112	0.65780	4.865703	0.418768704601213	0.62733	4.493985	0.999999975561449	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.32	4.32	0.50899	2.369000	0.43884	7.756000	0.68219	0.609000	0.47794	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	10.216	0.42345	677	0.60274	Regulator of G protein signalling-like domain|p115RhoGEF, RGS domain;Regulator of G protein signalling-like domain|p115RhoGEF, RGS domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	882.33	34	chr19	41892723	.	T	C	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.848;DP=693;ExcessHet=0;FS=6.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.01;ReadPosRankSum=-0.696;SOR=0.35	GT:AD:DP:GQ:PL	0/1:18,31:49:99:896,0,455	18	0	1	0
chr19	42755032	42755032	T	C	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon3:c.A578G:p.Q193R,PSG8:NM_001130167:exon4:c.A944G:p.Q315R,PSG8:NM_182707:exon4:c.A944G:p.Q315R	.	11	1315	179	15	2	211	0.0736175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000394207581369	.	.	0.0002	0.0006	0.0002	0.0002	0	0.0002	0	0.0002	0.0001811	28	154602	rs11879884	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0.0003	0.0038	7.557e-05	7.488e-05	0.0004	0.0001	0.0005	0.0003	0.0005	0.0006	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0009	0	0.0005	0.0058	0	0	0	0.0002	0.0010	0.0004	0.67	0.38185	T	0.429	0.14544	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.7	0.12162	T	0.21	0.15782	N	0.022	0.01347	-0.9413	0.42410	T	0.010	0.03673	T	9	0.013171405	0.00280	T	3.94E-4	0.00065	T	0.003	0.00094	0.37	0.38013	0.0297737177859	0.01360	0.04391796341383173	0.04335	0.00655855936216	0.00574	0.322529703379	0.13804	T	8.1E-5	0.00008	T	-0.674596	0.00052	T	-0.809263	0.01682	T	0.00166208871933183	0.00017	T	0.126587	0.00987	T	0.031723537	0.03065	0.036050398	0.02974	0.031723537	0.03065	0.036050398	0.02974	-3.146	0.29557	T	.	.	0.053	0.01309	B	.;.;.;.	.;.;.;.	-0.957880	0.00833	0.028	0.095571597598094443	0.00100	0.00148	0.00897	N	AEFI	0.022291	0.01096	N	-2.06944423764149	0.00149	0.006394159	-2.09591618087471	0.00190	0.008370309	4.14978639671944E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	0.002000	0.12962	-1.238000	0.05941	-3.526000	0.00078	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.2929:0.4319:0.2752	3.579	0.07497	426	0.81110	.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	21229.5	357	chr19	42755032	.	T	C	21229.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.729;DP=1817;ExcessHet=0.0506;FS=0.547;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=56.1;MQRankSum=-6.763;QD=17.52;ReadPosRankSum=0.492;SOR=0.772	GT:AD:DP:GQ:PL	0/1:119,84:203:99:1904,0,3426	18	0	1	0
chr19	42906948	42906948	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon5:c.C1214T:p.S405F,PSG6:NM_002782:exon5:c.C1214T:p.S405F	.	10	1509	3	0	0	3	0.000993049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00104402999787	0.0002	.	0.0005	9.619e-05	0.0003	0	0	0.0007	0	0.0001	0.0003816	59	154602	rs199507024	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0003	0.0002	2.989e-05	0.0001	0.0082	0	0	0.0009	0.0001	0.0010	0.0001	0.0003	0.0003	0.0002	0.0003	0.0001	0.0002	0.0002	7.924e-05	6.005e-05	4.851e-05	0	0	0.0075	0	0	0	0.0001	0.0005	0	0.016	0.53172	D	0.05	0.59159	T	0.005	0.33029	B	0.044	0.36557	B	.	.	.	.	1	0.08975	N	2.415	0.69758	M	2.07	0.20387	T	-2.11	0.53577	N	0.176	0.29313	-0.9918	0.32141	T	0.071	0.28839	T	9	0.008209318	0.00186	T	0.001044	0.01167	T	0.084	0.24469	.	.	0.0401082797425	0.02173	0.021276936797534368	0.02080	.	.	.	.	.	0.022392	0.17269	T	-0.373759	0.03408	T	-0.495221	0.22845	T	0.022675508633256	0.00985	T	0.726327	0.34071	T	0.10680408	0.25254	0.06906745	0.14504	0.10680408	0.25254	0.06906745	0.14504	-7.096	0.55302	T	.	.	0.151	0.43707	B	.;.;.	.;.;.	0.547728	0.09163	5.946	0.95219951279096782	0.26438	0.00659	0.02856	N	AEFI	0.030884	0.03191	N	-0.850942586675749	0.12027	0.5837776	-1.04914395874227	0.08724	0.430382	1.33887363472806E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.54	0.21	0.14507	0.034000	0.13663	-2.124000	0.04177	-0.676000	0.04273	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.362:0.638:0.0	5.402	0.15599	684	0.59539	.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000562	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3628.33	33	chr19	42906948	.	G	A	3628.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.212;DP=920;ExcessHet=0;FS=2.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=-0.989;QD=13.59;ReadPosRankSum=1.03;SOR=0.836	GT:AD:DP:GQ:PL	0/1:133,134:267:99:3642,0,3605	18	0	1	0
chr19	42907832	42907832	G	C	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.C729G:p.I243M,PSG6:NM_002782:exon4:c.C729G:p.I243M	.	11	1508	3	0	0	3	0.000993707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.000698753794423	7.7e-05	.	9.9e-05	0	0.0003	0	0	0.0001	0	0	7.76e-05	12	154602	rs200331954	5.479e-05	5.474e-05	4.77e-05	6.196e-05	0.0006	4.482e-05	4.152e-05	0.0002	8.253e-05	2.991e-05	0.0001	0.0004	0	0	0.0006	3.96e-05	0.0002	2.325e-05	3.301e-05	3.286e-05	5.159e-05	1.352e-05	4.419e-05	1.265e-05	8.01e-06	1.173e-05	6.25e-06	0	0	0	0.0003	0	0	0	4.419e-05	0.0005	0	0.03	0.45756	D	0.006	0.70582	D	0.994	0.90584	D	0.985	0.92359	D	.	.	.	.	1	0.18198	N	3.07	0.87108	M	1.35	0.45248	T	-1.62	0.38924	N	0.335	0.37613	-0.8443	0.52359	T	0.282	0.65428	T	9	0.09505439	0.16949	T	6.99E-4	0.00435	T	0.144	0.38394	.	.	0.185906805712	0.18197	0.16668241154940305	0.16588	.	.	.	.	.	0.01259	0.11036	T	-0.304553	0.08236	T	-0.4202	0.31053	T	0.235598683357239	0.22216	T	0.947205	0.79675	D	0.11363789	0.26835	0.09052298	0.21232	0.11363789	0.26835	0.09052298	0.21232	-5.765	0.44268	T	.	.	0.151	0.43489	B	.;.;.	.;.;.	1.558201	0.19961	14.52	0.99077758116839598	0.51882	0.01402	0.04750	N	AEFGI	0.028759	0.02592	N	-0.0941516977652303	0.37649	2.193418	-0.459207456382941	0.23287	1.269199	1.96522938601365E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.487000	0.22064	1.174000	0.24646	0.474000	0.21982	0.005000	0.17040	0.007000	0.19602	0.008000	0.08271	0.0:0.0:1.0:0.0	6.293	0.20277	693	0.58582	.;Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000590	0.000000	0.001374	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3655.33	36	chr19	42907832	.	G	C	3655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=930;ExcessHet=0;FS=2.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.202;SOR=0.83	GT:AD:DP:GQ:PL	0/1:138,134:272:99:3669,0,3616	18	0	1	0
chr19	43535604	43535604	G	A	exonic	ZNF575	.	nonsynonymous SNV	ZNF575:NM_174945:exon4:c.G655A:p.G219S	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00487580851942	.	.	1.753e-05	0	0	0	0	1.606e-05	0.0012	0	1.29e-05	2	154602	rs765230902	4.79e-06	4.788e-06	6.809e-06	2.751e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	6.57e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.025	0.47320	D	0.154	0.32040	T	0.012	0.16265	B	0.009	0.14300	B	0.734143	0.06388	N	1.147490	0.999651	0.21317	N	1.685	0.43254	L	2.89	0.10196	T	-4.63	0.79229	D	0.157	0.21839	-0.9529	0.40468	T	0.029	0.12234	T	10	0.10785943	0.20054	T	0.004876	0.12224	T	0.063	0.18251	0.647	0.78436	0.282179105231	0.27821	0.15459164985613538	0.15380	0.474130913374	0.46605	0.478343844414	0.35829	T	0.071508	0.57017	T	-0.364502	0.03882	T	-0.697712	0.05951	T	0.750333309173584	0.43304	D	0.656934	0.26756	T	0.15587461	0.35205	0.17850648	0.40525	0.15587461	0.35205	0.17850648	0.40524	-4.556	0.31614	T	.	.	0.184	0.53709	B	.;.;.	.;.;.	0.463850	0.08333	5.085	0.97896827080563154	0.36710	0.11759	0.16843	N	ALL	0.046272	0.07664	N	-0.750203566599134	0.14628	0.7302543	-0.801473543288439	0.14461	0.7556308	0.999995860836285	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.535252	0.11790	0	0.825845	0.99933	0	.	.	3.93	-0.819	0.10283	0.079000	0.14636	.	.	-0.103000	0.15852	0.000000	0.06391	0.005000	0.19230	0.948000	0.49324	0.41:0.0:0.59:0.0	7.729	0.27939	889	0.27310	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3461.33	36	chr19	43535604	.	G	A	3461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.978;DP=900;ExcessHet=0;FS=5.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.929;SOR=0.442	GT:AD:DP:GQ:PL	0/1:136,132:268:99:3475,0,3583	18	0	1	0
chr19	44032036	44032036	A	G	exonic	ZNF222	.	nonsynonymous SNV	ZNF222:NM_001129996:exon4:c.A482G:p.N161S,ZNF222:NM_013360:exon4:c.A362G:p.N121S	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0028	0.000798722	0.0033	0.0006	0.0005	0	0.0104	0.0045	0.0044	0.0007	0.0031953	494	154602	rs150090162	0.0036	0.0036	0.0037	0.0036	0.0036	0.0035	0.0035	0.0035	0.0034	0.0005	0.0007	0.0221	0	0.0080	0.0023	0.0036	0.0032	0.0010	0.0031	0.0031	0.0030	0.0033	0.0037	0.0029	0.0028	0.0033	0.0032	0.0008	0.0022	0.0009	0.0161	0	0.0094	0	0.0037	0.0061	0.0008	0.407	0.10245	T	0.046	0.49120	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.66	0.27486	T	-0.16	0.09460	N	0.042	0.03392	-1.0201	0.23682	T	0.028	0.12014	T	9	0.010295689	0.00230	T	.	.	.	0.016	0.02506	.	.	0.306053231325	0.30222	0.006293335207662931	0.00597	0.0416100648428	0.04473	0.205158054829	0.00622	T	4.57E-4	0.00158	T	-0.738628	0.00021	T	-0.832536	0.01218	T	0.00061142356313643	0.00005	T	0.0978902	0.00725	T	0.02359038	0.01112	0.021608654	0.00206	0.02359038	0.01112	0.021608654	0.00206	-4.109	0.25423	T	.	.	0.086	0.11027	B	.;.	.;.	-0.122468	0.03508	0.663	0.53077445928467604	0.04870	0.00042	0.00346	N	AEGBHCI	0.034009	0.04140	N	-1.13225770564066	0.06077	0.2787821	-1.19154913961695	0.06051	0.290066	0.00751177195144924	0.11484	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.79	0.475	0.15984	-0.752000	0.04902	.	.	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6692:0.2046:0.1262:0.0	4.205	0.09944	605	0.67457	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	2557.33	35	chr19	44032036	.	A	G	2557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.196;DP=1028;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.96;SOR=0.637	GT:AD:DP:GQ:PL	0/1:98,95:193:99:2571,0,2696	18	0	1	0
chr19	44990402	44990402	G	C	exonic	CLPTM1	.	nonsynonymous SNV	CLPTM1:NM_001282175:exon10:c.G1098C:p.Q366H,CLPTM1:NM_001282176:exon10:c.G834C:p.Q278H,CLPTM1:NM_001294:exon10:c.G1140C:p.Q380H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0921263832564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.83351	D	0.999	0.77913	D	0.984	0.76113	D	0.000035	0.55875	D	0.124846	1	0.81001	D	3.055	0.86842	M	.	.	.	-4.73	0.80085	D	0.839	0.84401	0.062	0.83463	D	0.484	0.80296	T	9	0.9059087	0.89955	D	0.092126	0.75835	D	0.426	0.73372	0.64	0.77687	0.793154707021	0.79123	0.6706760253147969	0.67005	1.72895118267	0.90712	0.759910821915	0.75915	T	0.324796	0.69557	T	0.318671	0.84375	D	0.219972	0.84172	D	0.996466636657715	0.89398	D	0.945605	0.79272	D	0.9530516	0.96576	0.9066895	0.95452	0.9530516	0.96577	0.9066895	0.95453	-12.036	0.85345	D	.	.	0.968	0.89183	P	.;.;.	.;.;.	3.675879	0.52298	23.2	0.99739992068330596	0.83409	0.91822	0.54337	D	AEFBCI	0.749021	0.69059	D	0.605583950514771	0.73526	5.980744	0.492574129432833	0.67497	5.091921	0.981324894050517	0.30248	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.8	3.77	0.42499	2.994000	0.49121	.	.	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	0.0919:0.0:0.9081:0.0	10.892	0.46207	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2323.33	41	chr19	44990402	.	G	C	2323.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.669;DP=813;ExcessHet=0;FS=1.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.93;ReadPosRankSum=0.521;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,65:111:99:0|1:44990377_C_G:2337,0,1551:44990377	18	0	1	0
chr19	48053118	48053118	C	T	exonic	PLA2G4C	.	nonsynonymous SNV	PLA2G4C:NM_001159322:exon16:c.G1489A:p.D497N,PLA2G4C:NM_001159323:exon16:c.G1459A:p.D487N,PLA2G4C:NM_003706:exon16:c.G1459A:p.D487N	.	416	1104	2	0	0	2	0.000904977	.	.	.	3460673	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00349383859271	.	.	8.248e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs781443003	1.237e-05	1.3e-05	1.092e-05	1.384e-05	5.067e-05	7.73e-06	6.38e-06	8.4e-06	3.14e-06	0	0	0	5.067e-05	7.52e-05	0	7.229e-06	3.325e-05	2.328e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.08212	T	0.735	0.05184	T	0.913	0.50474	P	0.088	0.29688	B	0.237514	0.03560	U	2.659850	1	0.08975	N	1.5	0.37844	L	3.69	0.04114	T	-0.52	0.16187	N	0.089	0.07398	-0.9094	0.46928	T	0.008	0.02968	T	10	0.097449094	0.17552	T	0.003494	0.07908	T	0.071	0.20720	0.61	0.74300	0.262175524916	0.25828	0.1844401191767356	0.18363	0.176130536487	0.19829	0.490992456675	0.37576	T	4.67E-4	0.00164	T	-0.387867	0.02776	T	-0.794921	0.02032	T	0.431772798299789	0.30126	T	0.529047	0.17505	T	0.028502423	0.02197	0.022575129	0.00279	0.028502423	0.02196	0.022575129	0.00279	-2.497	0.06885	T	.	.	0.129	0.34405	B	.;.;.	.;.;.	0.537420	0.09061	5.843	0.6709047807818157	0.08251	0.00108	0.00689	N	AEFDBI	0.031566	0.03403	N	-1.16892374866956	0.05476	0.249715	-1.37045830763844	0.03570	0.166815	3.47625111412319E-5	0.03775	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	2.78	-4.75	0.03003	-0.614000	0.05699	-4.198000	0.02287	-0.446000	0.05156	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.3762:0.0:0.6238	7.877	0.28760	592	0.68746	.;.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	639.33	37	chr19	48053118	.	C	T	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.176;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=0.227;SOR=0.699	GT:AD:DP:GQ:PL	0/1:49,30:79:99:653,0,1170	18	0	1	0
chr19	49514281	49514281	G	C	exonic	FCGRT	.	nonsynonymous SNV	FCGRT:NM_004107:exon3:c.G396C:p.K132N,FCGRT:NM_001136019:exon4:c.G396C:p.K132N	.	408	1107	6	1	0	8	0.00360036	.	.	.	705158	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0059	0.00339457	0.0069	0.0024	0.0050	0.0005	0.0122	0.0079	0.0166	0.0078	0.0062677	969	154602	rs150420714	0.0075	0.0075	0.0075	0.0074	0.0080	0.0074	0.0073	0.0078	0.0078	0.0013	0.0052	0.0028	7.572e-05	0.0123	0.0014	0.0080	0.0067	0.0076	0.0059	0.0060	0.0056	0.0063	0.0080	0.0056	0.0055	0.0074	0.0072	0.0016	0.0143	0.0061	0.0043	0.0004	0.0127	0	0.0080	0.0043	0.0062	0.006	0.61437	D	0.106	0.37872	T	0.946	0.53363	P	0.375	0.43710	B	0.980927	0.07839	N	1.012730	0.996123	0.23108	N	1.445	0.36358	L	5.7	0.06445	T	-1.37	0.33998	N	0.317	0.35727	-0.9012	0.47868	T	0.003	0.00961	T	10	0.0067214966	0.00152	T	.	.	.	0.104	0.29647	0.554	0.67133	0.382940591053	0.37911	0.8124143011311555	0.81197	0.692715444287	0.60680	0.378436505795	0.22034	T	0.165557	0.51145	T	-0.552967	0.00280	T	-0.55768	0.16595	T	0.0162126682914609	0.00395	T	0.80032	0.45382	T	0.6124355	0.73358	0.14730112	0.34864	0.6124355	0.73359	0.14730112	0.34864	-4.441	0.30109	T	.	.	0.515	0.74883	A	.;.;.;.;.	.;.;.;.;.	3.080404	0.41440	21.4	0.99718381977743231	0.81843	0.15273	0.18831	N	AEFDBI	0.589928	0.58662	D	0.0936500651444614	0.46167	2.861276	0.0231053205491822	0.40789	2.440017	0.999583453350803	0.40607	0.72623	0.87236	0	0.670034	0.63936	0	0.594344	0.31042	0	0.727631	0.95156	0	.	.	4.43	0.922	0.18534	2.459000	0.44680	0.022000	0.13604	0.654000	0.53741	0.466000	0.26691	0.015000	0.20450	0.910000	0.44547	0.2422:0.2182:0.5395:0.0	3.495	0.07215	794	0.45591	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-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	1	0	0.002018	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	923.33	37	chr19	49514281	.	G	C	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=752;ExcessHet=0;FS=4.411;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.598;SOR=1.192	GT:AD:DP:GQ:PL	0/1:51,31:82:99:937,0,1550	18	0	1	0
chr19	51079551	51079551	G	A	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon4:c.C364T:p.R122W,KLK14:NM_001311182:exon5:c.C364T:p.R122W,KLK14:NM_022046:exon5:c.C364T:p.R122W	.	424	1064	34	0	0	34	0.0157262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	.	0.0075	0.00419329	0.0083	0.0025	0.0072	0.0001	0.0060	0.0102	0.0084	0.0102	0.0079365	1227	154602	rs112658494	0.0100	0.0100	0.0101	0.0099	0.0137	0.0098	0.0098	0.0113	0.0108	0.0018	0.0060	0.0065	5.038e-05	0.0055	0.0137	0.0110	0.0090	0.0107	0.0074	0.0074	0.0077	0.0071	0.0109	0.0071	0.0069	0.0103	0.0100	0.0024	0.0186	0.0074	0.0075	0.0002	0.0046	0.0238	0.0109	0.0109	0.0104	0.338	0.23183	T	0.017	0.60337	D	0.998	0.73220	D	0.929	0.66367	D	.	.	.	.	1	0.08975	N	1.78	0.46185	L	-2.47	0.89293	D	-3.55	0.74051	D	0.411	0.45142	-0.2042	0.77562	T	0.635	0.87226	D	9	0.014386356	0.00303	T	.	.	.	0.220	0.51569	.	.	0.811110782611	0.80934	0.6282621342850477	0.62759	0.596895955248	0.54907	0.476279169321	0.35544	T	0.372321	0.73653	T	-0.357965	0.04246	T	-0.276581	0.47154	T	0.0444715671153752	0.04506	T	0.434357	0.11884	T	0.20042667	0.42018	0.22102161	0.46898	0.20042667	0.42017	0.22102161	0.46897	-6.713	0.51908	T	.	.	0.210	0.43707	B	.;.;.	.;.;.	3.197651	0.43469	21.7	0.99809278564540604	0.89353	0.09311	0.15093	N	AEFDBCI	0.133143	0.25270	N	-0.240936203016391	0.31467	1.764708	-0.480575321267949	0.22688	1.233621	0.00406709125317699	0.10401	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.81	0.678	0.17136	-0.427000	0.07068	.	.	-0.251000	0.07141	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0928:0.0:0.4488:0.4584	6.656	0.22179	958	0.09170	.;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	0.015136	0.005051	0.017711	0.017544	0.000000	0.000000	0.009202	0.022727	0.05263	2321.83	38	chr19	51079551	.	G	A	2321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.16;DP=789;ExcessHet=0.119;FS=0.558;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.353;SOR=0.61	GT:AD:DP:GQ:PL	0/1:45,42:87:99:1092,0,1056	17	0	2	0
chr19	52384824	52384824	-	GGTC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1244_1245insGGTC:p.A416Vfs*4	.	460	995	45	1	21	68	0.0230731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.0057	0.0055	0.0061	0.0135	0.0084	0.0078	0.0072	3.84e-05	1	26028	rs752060609	4.129e-05	0.0002	3.922e-05	4.339e-05	0.0029	3.13e-05	2.787e-05	0.0016	0.0013	3.986e-05	0	0	0	0.0002	0.0029	2.828e-05	0	3.396e-05	0.0012	0.0055	0.0012	0.0011	0.0023	0.0010	0.0009	0.0011	0.0010	0.0007	0	0.0015	0	0.0014	0.0006	0	0.0014	0.0031	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	57.62	118	chr19	52384824	.	A	AGGTC	57.62	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.96;DP=1251;ExcessHet=0;FS=11.65;InbreedingCoeff=-0.2063;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=-2.156;SOR=3.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,5:53:65:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:65,0,2000:52384817	7	0	1	11
chr19	52415911	52415911	C	G	exonic	ZNF528	.	stopgain	ZNF528:NM_032423:exon7:c.C1059G:p.Y353X	.	.	.	.	.	.	.	.	.	.	.	728390	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0055	0.00599042	0.0016	0.0188	0.0003	0	0	0	0	0	0.0015071	233	154602	rs116544786	0.0005	0.0005	0.0006	0.0004	0.0182	0.0004	0.0004	0.0170	0.0165	0.0182	0.0005	0	0	0	0.0002	3.597e-06	0.0009	2.319e-05	0.0049	0.0049	0.0051	0.0046	0.0174	0.0046	0.0045	0.0163	0.0159	0.0174	0	0.0010	0	0	0	0	5.881e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.016	0.00203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0185745	0.54188	T	0.268841	0.86509	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive	High|High	6.358374	0.95077	34	0.99229394320703201	0.56183	0.13207	0.17725	N	AEFBCI	0.042955	0.06730	N	0.00285081020669625	0.41985	2.52128	-0.36009312436599	0.26198	1.445508	8.83445231382706E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	2.08	-0.182	0.12635	-1.007000	0.03777	.	.	-0.365000	0.05478	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.7146:0.0:0.2854	7.140	0.24727	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	657.33	34	chr19	52415911	.	C	G	657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=780;ExcessHet=0;FS=2.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-2.166;SOR=1.121	GT:AD:DP:GQ:PL	0/1:45,23:68:99:671,0,1335	18	0	1	0
chr19	52583233	52583233	G	A	exonic	ZNF701	.	nonsynonymous SNV	ZNF701:NM_018260:exon4:c.G1174A:p.V392I,ZNF701:NM_001172655:exon5:c.G1372A:p.V458I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000653263709224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.13971	T	0.483	0.11795	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.395	0.12235	N	2.99	0.09262	T	-0.15	0.09297	N	0.038	0.01203	-0.9330	0.43695	T	0.015	0.06042	T	9	0.056803256	0.06426	T	6.53E-4	0.00350	T	0.035	0.08770	0.425	0.47021	0.181679512989	0.17746	0.008188615138779115	0.00783	0.0390701221606	0.04159	0.27809971571	0.07229	T	7.1E-4	0.00326	T	-0.411855	0.01932	T	-0.829378	0.01273	T	0.131381229163854	0.15509	T	0.278072	0.07307	T	0.02005273	0.00550	0.024400003	0.00459	0.02005273	0.00550	0.024400003	0.00459	-0.797	0.00801	T	.	.	0.112	0.23325	B	.;.;.	.;.;.	-0.998777	0.00773	0.025	0.39062339791253481	0.02673	0.00033	0.00296	N	AEFBI	0.012580	0.00141	N	-1.62113274388338	0.01163	0.05053026	-1.75144354877127	0.00928	0.04151328	0.0154967651567951	0.12720	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.91	-3.83	0.03988	-7.806000	0.00038	.	.	-0.283000	0.06393	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3414:0.1387:0.2473:0.2726	0.284	0.00232	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	.	.	.	.	.	.	.	.	0.02632	1878.33	93	chr19	52583233	.	G	A	1878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.816;DP=2389;ExcessHet=0;FS=3.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.82;MQRankSum=-1.843;QD=14.02;ReadPosRankSum=0.12;SOR=1.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,51:134:99:0|1:52583232_T_C:1892,0,3283:52583232	18	0	1	0
chr19	53015235	53015235	T	C	exonic	ERVV-1	.	nonsynonymous SNV	ERVV-1:NM_152473:exon1:c.T1145C:p.M382T	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0131657881587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.156e-06	4.373e-06	3.379e-06	2.961e-06	5.072e-06	5.3e-07	2e-07	8.4e-07	3.2e-07	0	0	0	0	0	0	5.072e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.54934	D	0.871	0.47859	P	0.833	0.59784	P	.	.	.	.	.	.	.	1.15	0.29295	L	2.33	0.16492	T	.	.	.	0.537	0.56489	.	.	.	.	.	.	.	0.51473826	0.62300	D	0.013166	0.32362	T	.	.	.	.	0.250039746154	0.24611	0.3082915976887026	0.30742	.	.	0.583949923515	0.50642	T	0.055068	0.29901	T	-0.183511	0.23215	T	-0.501377	0.22206	T	.	.	.	0.433057	0.11799	T	0.13709812	0.31758	0.36434102	0.61804	0.13709812	0.31758	0.36434102	0.61804	-4.26	0.27612	T	.	.	0.540	0.66359	A	.	.	2.094148	0.26643	17.19	0.78274744013547626	0.12230	0.00460	0.02218	N	AEFDGBI	0.032351	0.03640	N	.	.	.	.	.	.	3.44152846762801E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	0.493000	0.22160	.	.	0.359000	0.20063	0.003000	0.16062	0.001000	0.17328	0.535000	0.29822	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1416.33	36	chr19	53015235	.	T	C	1416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=925;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.05;MQRankSum=-2.747;QD=9.7;ReadPosRankSum=0.734;SOR=0.651	GT:AD:DP:GQ:PL	0/1:87,59:146:99:1430,0,2239	18	0	1	0
chr19	53490801	53490801	A	G	exonic	ZNF813	.	nonsynonymous SNV	ZNF813:NM_001004301:exon4:c.A569G:p.N190S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00180352528114	.	.	2.495e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs746024242	1.505e-05	1.505e-05	1.633e-05	1.375e-05	0.0002	9.85e-06	8.41e-06	2.985e-05	1.804e-05	0	8.944e-05	0	0	0	0.0002	1.349e-05	1.656e-05	1.159e-05	5.912e-05	5.909e-05	2.568e-05	9.412e-05	0.0005	3.076e-05	2.209e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	2.939e-05	0	0	0.029	0.45756	D	0.045	0.49390	D	0.26	0.31497	B	0.081	0.28987	B	.	.	.	.	1	0.08975	N	2.33	0.66821	M	1.67	0.27331	T	-4.19	0.75615	D	0.069	0.04188	-1.0247	0.22181	T	0.043	0.18618	T	8	0.075974405	0.11811	T	0.001804	0.03089	T	0.041	0.10877	0.194	0.10571	0.0920862733494	0.08535	0.025336954491110286	0.02484	0.0656326091647	0.07319	0.274374306202	0.06720	T	0.019995	0.15821	T	-0.435949	0.01366	T	-0.75633	0.03245	T	0.132182657718658	0.15582	T	0.0444955	0.00313	T	0.18642426	0.40050	0.18679573	0.41874	0.18642426	0.40050	0.18679573	0.41873	-7.557	0.58010	D	.	.	0.076	0.06069	B	.	.	0.205957	0.05902	2.341	0.77080497213121824	0.11728	0.00390	0.01961	N	AEFBI	.	.	.	-1.15595861881177	0.05682	0.2596838	-1.31499861860019	0.04236	0.1993701	2.03827954357322E-5	0.02871	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	0.467	-0.703	0.10694	-0.528000	0.06280	.	.	0.377000	0.20376	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	.	.	.	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	0.000530	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3668.33	259	chr19	53490801	.	A	G	3668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.564;DP=4599;ExcessHet=0;FS=1.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.55;ReadPosRankSum=-0.257;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,99:209:99:0|1:53490801_A_G:3682,0,4183:53490801	18	0	1	0
chr19	53576886	53576886	A	T	exonic	ZNF331	.	nonsynonymous SNV	ZNF331:NM_001253801:exon5:c.A326T:p.K109I,ZNF331:NM_001317113:exon5:c.A326T:p.K109I,ZNF331:NM_001317116:exon5:c.A326T:p.K109I,ZNF331:NM_001317119:exon5:c.A326T:p.K109I,ZNF331:NM_001317121:exon5:c.A326T:p.K109I,ZNF331:NM_001079906:exon6:c.A326T:p.K109I,ZNF331:NM_001079907:exon6:c.A326T:p.K109I,ZNF331:NM_001253799:exon6:c.A326T:p.K109I,ZNF331:NM_001253800:exon6:c.A326T:p.K109I,ZNF331:NM_001317114:exon6:c.A326T:p.K109I,ZNF331:NM_001317117:exon6:c.A326T:p.K109I,ZNF331:NM_001317118:exon6:c.A326T:p.K109I,ZNF331:NM_001253798:exon7:c.A326T:p.K109I,ZNF331:NM_001317115:exon7:c.A326T:p.K109I,ZNF331:NM_001317120:exon7:c.A326T:p.K109I,ZNF331:NM_018555:exon7:c.A326T:p.K109I	.	435	1059	23	4	1	32	0.0144253	.	.	.	705236	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.079	.	0.0053	0.00179712	0.0077	0.0013	0.0027	0	0.0082	0.0117	0.0066	0.0031	0.0074837	1157	154602	rs112855712	0.0067	0.0067	0.0068	0.0067	0.0074	0.0066	0.0066	0.0073	0.0072	0.0008	0.0038	0.0062	5.038e-05	0.0095	0.0057	0.0074	0.0062	0.0037	0.0055	0.0055	0.0058	0.0052	0.0083	0.0052	0.0051	0.0077	0.0075	0.0013	0	0.0059	0.0069	0	0.0065	0.0034	0.0083	0.0066	0.0039	0.023	0.72154	D	0.07	0.59159	T	0.045	0.21781	B	0.025	0.20508	B	0.073077	0.21369	N	0.240961	0.992882	0.41771	D	1.76	0.45711	L	3.11	0.09450	T	-4.05	0.79482	D	0.272	0.38541	-1.0468	0.15303	T	0.019	0.08033	T	10	0.007546127	0.00171	T	.	.	.	0.079	0.23065	.	.	0.46763814438	0.46390	0.27162076510049704	0.27075	1.421377758	0.85618	0.342191696167	0.16767	T	0.274482	0.64698	T	-0.470923	0.00839	T	-0.438837	0.28939	T	0.0143751333753561	0.00288	T	0.263374	0.12411	T	0.23822464	0.46697	0.16513857	0.38219	0.23822464	0.46697	0.16513857	0.38219	-5.146	0.38388	T	.	.	0.453	0.62351	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.426013	0.18436	13.73	0.99465340397474589	0.66049	0.05243	0.11077	N	AEFDBHCI	0.024695	0.01571	N	-0.779706392904022	0.13839	0.6847546	-0.859162418193244	0.13067	0.6758589	5.33915717425274E-5	0.04171	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.64	2.64	0.30504	0.989000	0.29229	.	.	0.691000	0.84096	0.002000	0.15269	0.000000	0.08366	0.032000	0.13371	1.0:0.0:0.0:0.0	9.054	0.35558	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	0	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.011364	0.05263	3305.83	36	chr19	53576886	.	A	T	3305.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.686;DP=1003;ExcessHet=0.119;FS=3.028;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.506;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,51:93:99:0|1:53576886_A_T:1223,0,1159:53576886	17	0	2	0
chr19	54168590	54168590	A	G	exonic	TMC4	.	nonsynonymous SNV	TMC4:NM_001145303:exon4:c.T551C:p.M184T,TMC4:NM_144686:exon4:c.T533C:p.M178T	.	138	1368	13	3	0	19	0.00689655	.	.	.	3199367	TMC4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.225	.	0.0042	0.00279553	0.0064	0.0026	0.0105	0	0	0.0103	0.0033	0.0008	0.0027684	428	154602	rs149646954	0.0050	0.0050	0.0051	0.0049	0.0060	0.0049	0.0049	0.0059	0.0058	0.0005	0.0041	0.0009	0	0.0002	0.0051	0.0060	0.0046	0.0011	0.0037	0.0037	0.0040	0.0034	0.0060	0.0035	0.0034	0.0053	0.0051	0.0012	0.0077	0.0060	0.0006	0	0.0003	0.0136	0.0058	0.0071	0.0006	0.005	0.63226	D	0.006	0.70582	D	.	.	.	.	.	.	0.001516	0.38793	N	0.253870	0.999976	0.18612	N	.	.	.	0.75	0.50192	T	-2.73	0.58085	D	0.605	0.62273	-0.9365	0.43164	T	0.092	0.35174	T	10	0.007901251	0.00179	T	.	.	.	0.225	0.52323	.	.	0.559581285787	0.55619	0.8243231750012319	0.82390	.	.	0.669213414192	0.62726	T	0.102525	0.41034	T	-0.368319	0.03680	T	-0.300061	0.44719	T	0.0450424498738276	0.04610	T	0.653735	0.26383	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.50636	B	.;.;.	.;.;.	2.951803	0.39279	20.9	0.95013025864251044	0.25987	0.79004	0.39069	D	AEFDGBHCI	0.651639	0.62532	D	0.0648902163605663	0.44830	2.749981	0.0963255889416618	0.44362	2.719551	0.99999999999992	0.74766	0.685219	0.55550	0	0.567169	0.20442	1	0.674405	0.61402	0	0.636	0.56748	0	.	.	4.2	4.2	0.48814	4.217000	0.58344	.	.	0.741000	0.86335	0.997000	0.40164	1.000000	0.68203	0.052000	0.15357	1.0:0.0:0.0:0.0	10.036	0.41301	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	0	0	1	0	0.005061	0.000000	0.008174	0.002924	0.000000	0.008772	0.006173	0.003788	0.02632	401.33	44	chr19	54168590	.	A	G	401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.745;SOR=0.631	GT:AD:DP:GQ:PL	0/1:29,18:47:99:415,0,720	18	0	1	0
chr19	54276882	54276882	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon9:c.G1060A:p.V354I,LILRB2:NM_001278405:exon9:c.G1408A:p.V470I,LILRB2:NM_001080978:exon10:c.G1405A:p.V469I,LILRB2:NM_001278403:exon10:c.G1405A:p.V469I,LILRB2:NM_005874:exon10:c.G1408A:p.V470I	.	7	1488	27	0	0	27	0.00899101	.	.	.	2818765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	.	.	.	0.0043	0.0010	0.0008	0.0005	0.0030	0.0035	0.0089	0.0147	0.0037968	587	154602	rs201896387	0.0022	0.0033	0.0019	0.0024	0.0090	0.0021	0.0021	0.0085	0.0083	0.0006	0.0003	0.0093	0.0013	0.0028	0.0057	0.0015	0.0027	0.0090	0.0038	0.0044	0.0038	0.0037	0.0128	0.0035	0.0034	0.0102	0.0093	0.0009	0	0.0005	0.0148	0.0017	0.0054	0	0.0050	0.0038	0.0128	0.41	0.10447	T	0.507	0.10930	T	.	.	.	.	.	.	0.004717	0.01040	N	4.087460	1	0.08975	N	.	.	.	7.18	0.00461	T	-0.01	0.08033	N	0.174	0.20129	-0.9369	0.43103	T	0.001	0.00222	T	10	0.008268654	0.00187	T	.	.	.	0.022	0.04323	.	.	0.0482279557977	0.04254	0.07143803999841027	0.07080	0.0402463030352	0.04312	0.385403037071	0.23020	T	.	.	.	-0.307311	0.07988	T	-0.679208	0.07032	T	0.0112204546630522	0.00165	T	0.533947	0.17813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.06114	B	.;.;.;.;.	.;.;.;.;.	-0.935676	0.00867	0.031	0.32542988460209776	0.01891	0.00069	0.00489	N	AEFDGBI	0.033431	0.03963	N	-1.87611417802756	0.00384	0.0165179	-1.94326987473154	0.00401	0.01772593	0.999968844712394	0.48965	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.5	-2.99	0.05164	-3.362000	0.00552	.	.	-1.059000	0.01621	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2116:0.2835:0.0:0.5049	2.883	0.05304	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007772	0.000000	0.005435	0.010490	0.000000	0.000000	0.009146	0.022727	0.05263	2597.83	35	chr19	54276882	.	C	T	2597.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.92;DP=1080;ExcessHet=0.119;FS=3.778;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.5;MQRankSum=-0.696;QD=5.97;ReadPosRankSum=-0.298;SOR=1.018	GT:AD:DP:GQ:PL	0/1:166,55:221:99:1058,0,4389	17	0	2	0
chr19	54278827	54278827	C	T	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G592A:p.D198N,LILRB2:NM_001278405:exon5:c.G940A:p.D314N,LILRB2:NM_001278406:exon5:c.G940A:p.D314N,LILRB2:NM_001080978:exon6:c.G940A:p.D314N,LILRB2:NM_001278403:exon6:c.G940A:p.D314N,LILRB2:NM_005874:exon6:c.G940A:p.D314N	.	2	1498	21	1	0	23	0.00761842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0040721279126	.	.	0.0047	0.0016	0.0057	0	0.0020	0.0065	0.0046	0.0020	0.0042302	654	154602	rs41308752	0.0036	0.0088	0.0036	0.0036	0.0063	0.0035	0.0035	0.0049	0.0047	0.0010	0.0055	0.0035	2.519e-05	0.0020	0.0063	0.0039	0.0050	0.0014	0.0072	0.0081	0.0077	0.0067	0.0112	0.0069	0.0067	0.0105	0.0103	0.0023	0.0232	0.0106	0.0052	0	0.0009	0.0204	0.0112	0.0100	0.0012	0.061	0.38407	T	0.031	0.59732	D	.	.	.	.	.	.	0.194525	0.16758	N	0.436516	0.999935	0.20638	N	.	.	.	2.85	0.10578	T	-4.16	0.75456	D	0.206	0.28381	-1.1058	0.03457	T	0.068	0.28047	T	10	0.0119790435	0.00259	T	0.004072	0.09712	T	0.088	0.25558	.	.	0.390531646278	0.38663	0.055722397758538295	0.05513	0.311213502509	0.33432	0.36459839344	0.20054	T	.	.	.	-0.563221	0.00243	T	-0.577099	0.14805	T	0.0507540774842632	0.05632	T	0.737326	0.35372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.44948	B	.;.;.;.;.	.;.;.;.;.	2.617962	0.34018	19.51	0.99824458133871141	0.90677	0.33003	0.24723	N	AEFBI	0.081112	0.16410	N	-0.105097198048093	0.37170	2.158718	-0.239062979065226	0.30151	1.695123	0.995537370753141	0.34180	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.0	1.9	0.24770	-0.104000	0.10893	.	.	-0.271000	0.06739	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2607:0.7392:0.0:0.0	7.396	0.26107	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	0.004274	0.010309	0.000000	0.004132	0.000000	0.000000	0.009259	0.000000	0.02632	375.33	59	chr19	54278827	.	C	T	375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.631;DP=1027;ExcessHet=0;FS=15.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.59;MQRankSum=-4.227;QD=7.66;ReadPosRankSum=-2.93;SOR=0.049	GT:AD:DP:GQ:PL	0/1:34,15:49:99:389,0,1148	18	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:357,61:418:99:678,0,10242	8	0	11	0
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	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	1/1:0,56:56:99:1628,168,0	10	3	6	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	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1668,177,0	10	3	6	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	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,54:54:99:1|1:54752445_C_T:2384,162,0:54752445	10	3	6	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	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	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,37:37:99:1|1:54752482_T_C:1663,111,0:54752482	10	3	6	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	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	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	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	.	.	.	.	.	.	.	.	0.2895	9081.15	373	chr19	54752511	.	G	A	9081.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=6.55;DP=3015;ExcessHet=0.0524;FS=46.673;InbreedingCoeff=0.3603;MLEAC=11;MLEAF=0.289;MQ=57.02;MQRankSum=-18.05;QD=4.49;ReadPosRankSum=-0.35;SOR=4.364	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:75:1|1:54752511_G_A:1108,75,0:54752511	11	3	5	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	.	.	.	.	.	.	.	.	0.2368	5632.82	409	chr19	54760643	.	A	G	5632.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.964;DP=3070;ExcessHet=5.3738;FS=0.841;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.21;MQRankSum=-7.788;QD=2.22;ReadPosRankSum=-1.6;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,17:170:99:0|1:54760643_A_G:253,0,6327:54760643	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	6909.82	427	chr19	54760651	.	G	C	6909.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.367;DP=3110;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.71;MQRankSum=-7.967;QD=2.66;ReadPosRankSum=-0.854;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,18:173:99:0|1:54760643_A_G:289,0,6454:54760643	10	0	9	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-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	.	.	.	.	.	.	.	.	0.1053	2922.43	425	chr19	54760659	.	G	A	2922.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.983;DP=3060;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=53.4;MQRankSum=-4.823;QD=2.4;ReadPosRankSum=0.781;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,19:176:99:0|1:54760643_A_G:325,0,6535:54760643	15	0	4	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	.	.	.	.	.	.	.	.	0.2368	8391.82	417	chr19	54760665	.	T	C	8391.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.929;DP=3064;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=54.49;MQRankSum=-8.924;QD=3.29;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,19:167:99:0|1:54760643_A_G:352,0,6157:54760643	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	8694.82	404	chr19	54760676	.	T	A	8694.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.677;DP=2989;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.24;MQRankSum=-9.527;QD=3.5;ReadPosRankSum=2.82;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,19:167:99:0|1:54760643_A_G:352,0,6157:54760643	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	9144.82	392	chr19	54760692	.	A	G	9144.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.194;DP=2791;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.94;MQRankSum=-10.82;QD=3.87;ReadPosRankSum=3.07;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,19:162:99:0|1:54760643_A_G:367,0,5907:54760643	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	9240.82	386	chr19	54760695	.	T	C	9240.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.033;DP=2772;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.99;MQRankSum=-11.04;QD=3.96;ReadPosRankSum=3.13;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,19:162:99:0|1:54760643_A_G:367,0,5901:54760643	10	0	9	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	265.17	627	chr19	54767351	.	AAAG	A	265.17	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.884;DP=4058;ExcessHet=0.119;FS=1.055;InbreedingCoeff=-0.0655;MLEAC=2;MLEAF=0.053;MQ=58.48;MQRankSum=-16.72;QD=0.57;ReadPosRankSum=1.62;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,14:171:55:0|1:54767339_G_A:55,0,6525:54767339	17	0	2	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	61238.5	606	chr19	54767353	.	A	*	61238.5	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.16;DP=4856;ExcessHet=0.0068;FS=0;InbreedingCoeff=0.4797;MLEAC=2;MLEAF=0.053;MQ=59.21;MQRankSum=0;QD=17.68;ReadPosRankSum=0.973;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,14:161:67:.:.:4448,4319,6357:.	17	0	2	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	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	.	.	.	.	.	.	.	.	0.1842	1122.37	409	chr19	54775425	.	A	G	1122.37	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.74;DP=4083;ExcessHet=2.9153;FS=2.32;InbreedingCoeff=-0.2257;MLEAC=7;MLEAF=0.184;MQ=56.45;MQRankSum=-10.79;QD=0.37;ReadPosRankSum=1.18;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,15:174:99:0|1:54775409_T_A:151,0,6631:54775409	12	0	7	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	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	.	.	.	.	.	.	.	.	0.1842	1442.34	413	chr19	54775427	.	G	C	1442.34	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.12;DP=4083;ExcessHet=2.9153;FS=3.718;InbreedingCoeff=-0.225;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-10.89;QD=0.48;ReadPosRankSum=1.32;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,15:172:99:0|1:54775409_T_A:157,0,6547:54775409	12	0	7	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	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	.	.	.	.	.	.	.	.	0.1842	1708.36	412	chr19	54775428	.	T	C	1708.36	.	AC=7;AF=0.184;AN=38;BaseQRankSum=3.35;DP=4107;ExcessHet=2.9153;FS=3.727;InbreedingCoeff=-0.2254;MLEAC=7;MLEAF=0.184;MQ=56.44;MQRankSum=-11;QD=0.57;ReadPosRankSum=0.807;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,16:179:99:0|1:54775409_T_A:174,0,6686:54775409	12	0	7	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	.	.	.	.	.	.	.	.	0.2368	11574.8	336	chr19	54805033	.	C	T	11574.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.08;DP=3229;ExcessHet=5.3738;FS=7.591;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.86;MQRankSum=-11.71;QD=4.13;ReadPosRankSum=0.026;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:213,18:231:70:.:.:70,0,8785:.	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	16487.8	282	chr19	54805068	.	A	G	16487.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.661;DP=3098;ExcessHet=5.3738;FS=6.408;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.58;MQRankSum=-10.13;QD=6.21;ReadPosRankSum=0.594;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:184,21:205:99:.:.:312,0,4995:.	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	11217.8	285	chr19	54805957	.	A	T	11217.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=6.41;DP=3489;ExcessHet=5.3738;FS=0.745;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.14;MQRankSum=-17.54;QD=4.08;ReadPosRankSum=1.88;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,27:271:99:0|1:54805940_TCTC_T:399,0,10164:54805940	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	12237.8	292	chr19	54805960	.	A	G	12237.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.08;DP=3554;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.09;MQRankSum=-17.89;QD=4.35;ReadPosRankSum=1.92;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,28:273:99:0|1:54805940_TCTC_T:438,0,10203:54805940	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	18304.8	343	chr19	54805974	.	A	T	18304.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=5;DP=3907;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.07;MQRankSum=-17.64;QD=5.78;ReadPosRankSum=0.738;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,33:304:99:0|1:54805940_TCTC_T:565,0,11255:54805940	10	0	9	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	0.2368	21863.8	367	chr19	54805981	.	G	A	21863.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.72;DP=4133;ExcessHet=5.3738;FS=0.661;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.06;MQRankSum=-17.14;QD=6.47;ReadPosRankSum=-0.103;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:278,37:315:99:0|1:54805940_TCTC_T:681,0,11385:54805940	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	28967.8	464	chr19	54806034	.	C	A	28967.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.002;DP=5609;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.16;MQRankSum=-17.78;QD=7.14;ReadPosRankSum=2.67;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,49:376:99:0|1:54806034_C_A:1064,0,13506:54806034	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	29072.8	465	chr19	54806035	.	A	G	29072.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.057;DP=5621;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.17;MQRankSum=-17.85;QD=7.12;ReadPosRankSum=2.75;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,49:376:99:0|1:54806034_C_A:1064,0,13506:54806034	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	26861.8	480	chr19	54806051	.	C	G	26861.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.294;DP=5669;ExcessHet=5.3738;FS=3.155;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-18.22;QD=6.48;ReadPosRankSum=4.27;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,45:370:99:0|1:54806034_C_A:911,0,13511:54806034	10	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24665.8	493	chr19	54806072	.	GGA	G	24665.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.909;DP=5543;ExcessHet=5.3738;FS=5.455;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.64;MQRankSum=-17.97;QD=5.92;ReadPosRankSum=2.26;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:336,45:381:99:0|1:54806034_C_A:878,0,13973:54806034	10	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:331,46:377:99:0|1:54806034_C_A:935,0,13760:54806034	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,46:370:99:0|1:54806034_C_A:956,0,13466:54806034	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:315,47:362:99:0|1:54806034_C_A:1025,0,13085:54806034	10	0	9	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	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	.	.	.	.	.	.	.	.	0.1579	7182.66	479	chr19	54806112	.	A	G	7182.66	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.229;DP=5127;ExcessHet=2.0135;FS=6.726;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=57.97;MQRankSum=-16.13;QD=2.73;ReadPosRankSum=-2.644;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,43:352:99:0|1:54806034_C_A:875,0,12845:54806034	13	0	6	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	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,19:221:99:0|1:54808838_C_T:190,0,8416:54808838	10	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	23223.8	454	chr19	54808850	.	TGG	T	23223.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.49;DP=4360;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.81;MQRankSum=-18.9;QD=5.89;ReadPosRankSum=0.205;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,26:228:99:0|1:54808838_C_T:484,0,8404:54808838	10	0	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24382.8	451	chr19	54808853	.	C	CAT	24382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.99;DP=4351;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.86;MQRankSum=-18.78;QD=6.24;ReadPosRankSum=0.002;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,26:227:99:0|1:54808838_C_T:487,0,8362:54808838	10	0	9	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	0.2368	28020.8	436	chr19	54808875	.	T	C	28020.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.98;DP=4474;ExcessHet=5.3738;FS=0.625;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.08;MQRankSum=-17.34;QD=6.97;ReadPosRankSum=-2.035;SOR=0.643	GT:AD:DP:GQ:PL	0/1:211,34:245:99:797,0,5730	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,40:249:99:0|1:54855608_TCTC_T:1050,0,8655:54855608	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	15726.8	400	chr19	54855628	.	A	G	15726.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.821;DP=3692;ExcessHet=5.3738;FS=4.645;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.48;MQRankSum=-16.15;QD=4.72;ReadPosRankSum=0.875;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,39:248:99:0|1:54855608_TCTC_T:1008,0,8652:54855608	10	0	9	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4676.36	37	chr19	54855666	.	CAG	C	4676.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.815;DP=2910;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.1;MQRankSum=-18.27;QD=1.99;ReadPosRankSum=-0.397;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:238,22:260:99:0|1:54855666_CAG_C:206,0,9915:54855666	13	0	6	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4691.36	37	chr19	54855669	.	G	GCA	4691.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.507;DP=2868;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.27;MQRankSum=-18.56;QD=2;ReadPosRankSum=-0.817;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:238,22:260:99:0|1:54855666_CAG_C:206,0,9915:54855666	13	0	6	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	.	.	.	.	.	.	.	.	0.2368	22597.8	284	chr19	54865810	.	T	C	22597.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.986;DP=2652;ExcessHet=5.3738;FS=1.952;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-10.78;QD=9.81;ReadPosRankSum=1.98;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,41:157:99:0|1:54865794_T_C:1372,0,4747:54865794	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	22429.8	301	chr19	54865825	.	G	A	22429.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.241;DP=2724;ExcessHet=5.3738;FS=1.229;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.98;MQRankSum=-10.85;QD=9.44;ReadPosRankSum=1.27;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,40:164:99:0|1:54865794_T_C:1306,0,5086:54865794	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	22846.8	292	chr19	54865847	.	T	C	22846.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.52;DP=2735;ExcessHet=5.3738;FS=1.233;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.89;MQRankSum=-11.29;QD=9.58;ReadPosRankSum=-0.512;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,41:168:99:0|1:54865794_T_C:1339,0,5209:54865794	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	22283.8	290	chr19	54865852	.	T	A	22283.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.288;DP=2728;ExcessHet=5.3738;FS=0.585;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.95;MQRankSum=-11.05;QD=9.38;ReadPosRankSum=-0.814;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,40:168:99:0|1:54865794_T_C:1294,0,5254:54865794	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	21311.8	283	chr19	54865864	.	C	A	21311.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.371;DP=2678;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.79;QD=9.15;ReadPosRankSum=-1.298;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,36:167:99:0|1:54865794_T_C:1117,0,5392:54865794	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	20345.8	277	chr19	54865870	.	C	T	20345.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.04;DP=2639;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.61;QD=8.88;ReadPosRankSum=-1.286;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,34:162:99:0|1:54865794_T_C:1042,0,5272:54865794	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	18505.8	253	chr19	54865885	.	T	C	18505.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.01;DP=2431;ExcessHet=5.3738;FS=2.014;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.87;MQRankSum=-10.07;QD=8.9;ReadPosRankSum=-0.993;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,30:149:99:0|1:54865794_T_C:901,0,4906:54865794	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,28:145:99:0|1:54865794_T_C:824,0,4823:54865794	10	0	9	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	.	.	.	.	.	.	.	.	0.2368	16780.8	240	chr19	54865893	.	G	C	16780.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.95;DP=2346;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.82;MQRankSum=-9.923;QD=8.48;ReadPosRankSum=-1.483;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,27:141:99:0|1:54865794_T_C:787,0,4698:54865794	10	0	9	0
chr19	55165795	55165795	A	C	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256716:exon3:c.T53G:p.I18S	Ciliary dyskinesia, primary, 2, Autosomal recessive	0	1494	26	2	0	30	0.00994036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.000199681	0.0024	0	0	0	0	0.0033	0.0104	0.0023	0.0006404	99	154602	rs537635826	0.0006	0.0006	0.0005	0.0007	0.0044	0.0006	0.0005	0.0030	0.0026	6.182e-05	0.0005	0.0020	0	2.046e-05	0.0044	0.0005	0.0012	0.0022	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	4.824e-05	0	0.0010	0.0020	0	0	0.0068	0.0007	0.0005	0.0008	0.011	0.55530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.3	0.16953	T	0.4	0.03463	N	0.202	0.22357	-0.9537	0.40327	T	0.016	0.06425	T	8	0.00550279	0.00121	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.674487	0.00052	T	-0.748106	0.03560	T	0.012129488222065	0.00193	T	0.361964	0.08365	T	.	.	.	.	.	.	.	.	-1.348	0.01480	T	.	.	0.134	0.29060	B	.	.	0.599689	0.09679	6.452	0.95362320973247905	0.26763	0.06154	0.12135	N	AEFGBCI	0.088806	0.18002	N	-1.02745366790125	0.08037	0.3754451	-1.10485010075216	0.07607	0.3706807	0.999224403668781	0.38808	0.516011	0.20929	0	0.563428	0.19063	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	2.4	0.442	0.15794	-0.566000	0.06013	-1.184000	0.06088	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.6684:0.3316:0.0:0.0	6.101	0.19268	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1608.83	34	chr19	55165795	.	A	C	1608.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.103;DP=709;ExcessHet=0.119;FS=0.718;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.073;SOR=0.796	GT:AD:DP:GQ:PL	0/1:31,25:56:99:683,0,834	17	0	2	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,112:112:99:.:.:5017,345,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,112:112:99:.:.:5017,345,0:.	0	15	4	0
chr19	55962126	55962126	C	T	exonic	NLRP8	.	nonsynonymous SNV	NLRP8:NM_001317000:exon4:c.C2102T:p.T701M,NLRP8:NM_176811:exon4:c.C2102T:p.T701M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0221049502089	.	0.000199681	1.648e-05	9.61e-05	0	0	0	1.499e-05	0	0	1.94e-05	3	154602	rs191970413	2.189e-05	2.257e-05	1.633e-05	2.75e-05	9.275e-05	1.584e-05	1.356e-05	4.578e-05	3.272e-05	2.987e-05	2.236e-05	0	0	0	0	1.799e-05	3.312e-05	9.275e-05	6.566e-06	1.312e-05	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.028	0.46129	D	0.003	0.76473	D	0.687	0.90584	P	0.38	0.68939	B	.	.	.	.	1	0.08975	N	1.905	0.50856	L	-3.26	0.93587	D	-4.27	0.76254	D	0.262	0.29659	0.178	0.85534	D	0.838	0.94578	D	9	0.166832	0.31142	T	0.022105	0.44964	T	0.261	0.57352	.	.	0.482936932564	0.47924	0.34171093755874205	0.34084	0.365203198868	0.38123	0.433831989765	0.29733	T	0.023231	0.17768	T	-0.194321	0.21625	T	-0.335377	0.40868	T	0.313451933215942	0.25555	T	0.484552	0.14745	T	0.03095673	0.02848	0.06661255	0.13670	0.03095673	0.02848	0.06661255	0.13670	-6.347	0.50086	T	.	.	0.117	0.25721	B	.;.	.;.	1.415315	0.18313	13.67	0.93475055346120894	0.23269	0.01468	0.04899	N	AEFDBI	0.028623	0.02556	N	-0.535084296835173	0.20954	1.108454	-0.804864357667357	0.14378	0.7509364	2.70244256135706E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.93	0.878	0.18285	-0.251000	0.08837	0.075000	0.14313	-0.862000	0.02622	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8069:0.0:0.1931	4.662	0.12035	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	.	.	.	.	.	.	.	.	0.02632	1168.33	46	chr19	55962126	.	C	T	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=795;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.389;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1182,0,1098	18	0	1	0
chr19	56190317	56190317	T	C	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon5:c.A998G:p.H333R,ZSCAN5B:NM_001385638:exon5:c.A998G:p.H333R	.	418	1098	6	0	0	6	0.0027248	.	.	.	2361371	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.000556000896362	.	.	0.0001	9.819e-05	0	0	0	0.0002	0	0	0.0001358	21	154602	rs201080393	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0002	6.708e-05	0	0	0	0.0014	0.0002	0.0002	2.319e-05	7.88e-05	7.874e-05	6.424e-05	9.403e-05	0.0001	4.494e-05	3.51e-05	4.764e-05	3.338e-05	4.818e-05	0	0.0001	0	0	0	0.0034	0.0001	0	0	0.342	0.12632	T	0.381	0.15939	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.175	0.29870	L	3.41	0.05574	T	-1.25	0.31576	N	0.051	0.02759	-0.9376	0.42994	T	0.014	0.05705	T	9	0.038033605	0.02195	T	5.56E-4	0.00208	T	0.004	0.00165	.	.	0.0611884634855	0.05136	0.12433229418025342	0.12359	0.0133580702497	0.01285	0.326631963253	0.14426	T	0.003339	0.02748	T	-0.577955	0.00198	T	-0.783255	0.02356	T	0.0486454646182134	0.05259	T	0.605339	0.22755	T	0.09153786	0.21451	0.099667996	0.23806	0.09153786	0.21451	0.099667996	0.23806	-2.66	0.06973	T	.	.	0.176	0.38516	B	.;.	.;.	-0.883343	0.00954	0.037	0.7824155145048125	0.12216	0.00365	0.01864	N	AEFBI	0.032736	0.03752	N	-1.07290504417891	0.07146	0.3310901	-1.15095408558243	0.06751	0.3260159	1.73776932702402E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.76	0.393	0.15517	-4.206000	0.00312	.	.	0.366000	0.20181	0.000000	0.06391	0.000000	0.08366	0.115000	0.18958	0.1688:0.0:0.2833:0.5479	3.918	0.08731	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	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	2889.33	34	chr19	56190317	.	T	C	2889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.7;DP=863;ExcessHet=0;FS=2.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.737;SOR=0.673	GT:AD:DP:GQ:PL	0/1:99,120:219:99:2903,0,2682	18	0	1	0
chr19	56272859	56272859	A	G	exonic	EDDM13	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991238	0.24063	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16421449	0.30728	T	.	.	.	.	.	.	.	.	.	0.20792122020839818	0.20708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384762	0.09420	T	0.11357699	0.26822	0.21406579	0.45942	0.11357699	0.26822	0.21406579	0.45941	-4.161	0.26185	T	.	.	0.533	0.66046	A	.	.	2.488198	0.32099	18.94	0.75226978954844459	0.10993	0.04781	0.10494	N	AEFBI	0.050889	0.08937	N	.	.	.	.	.	.	0.935532070907892	0.27217	0.600919	0.35232	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620204	0.46100	0	.	.	2.98	2.98	0.33575	1.081000	0.30402	.	.	0.731000	0.85647	0.012000	0.18695	1.000000	0.68203	0.185000	0.21450	1.0:0.0:0.0:0.0	7.772	0.28180	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	.	.	.	.	.	.	.	.	0.05556	33.0	.	chr19	56272859	.	A	G	33.0	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.383;DP=19;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,69	8	0	1	10
chr19	56302010	56302010	C	T	exonic	EDDM13	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.26e-07	1.368e-06	0	1.961e-06	.	0	0	.	.	0	0	0	0	0	0	0	2.289e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093295515	0.16497	T	.	.	.	.	.	.	.	.	.	0.005647955677539991	0.00534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432057	0.11757	T	0.026591033	0.01736	0.051613946	0.08343	0.026591033	0.01736	0.051613946	0.08342	-3.535	0.16926	T	.	.	0.116	0.23255	B	.	.	0.223874	0.06058	2.502	0.73332109420072888	0.10290	0.01726	0.05462	N	ALL	0.046165	0.07636	N	.	.	.	.	.	.	0.999999678785479	0.74766	0.554377	0.28877	0	0.54472	0.11627	0	0.602189	0.34648	0	0.466023	0.07079	0	.	.	0.932	-0.242	0.12396	-0.895000	0.04226	.	.	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.6825:0.0:0.3175	3.297	0.06562	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	32.65	.	chr19	56302010	.	C	T	32.65	.	AC=2;AF=0.063;AN=32;DP=49;ExcessHet=0;FS=0;InbreedingCoeff=0.3218;MLEAC=1;MLEAF=0.031;MQ=60;QD=16.32;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	15	1	0	3
chr19	57860088	57860088	G	A	exonic	ZNF587	.	nonsynonymous SNV	ZNF587:NM_001204817:exon3:c.G1673A:p.R558Q,ZNF587:NM_032828:exon3:c.G1676A:p.R559Q	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0085	0.00279553	0.0068	0.0017	0.0041	0	0.0051	0.0105	0.0055	0.0010	0.0067593	1045	154602	rs141258730	0.0090	0.0090	0.0091	0.0089	0.0105	0.0089	0.0088	0.0103	0.0103	0.0015	0.0055	0.0060	0	0.0080	0.0029	0.0105	0.0078	0.0013	0.0079	0.0078	0.0078	0.0079	0.0128	0.0075	0.0073	0.0121	0.0118	0.0018	0.0220	0.0086	0.0040	0	0.0047	0.0034	0.0128	0.0119	0.0012	0.975	0.03857	T	1.0	0.01155	T	0.173	0.28803	B	0.004	0.10090	B	.	.	.	.	.	.	.	1.185	0.30054	L	0.19	0.60236	T	-0.31	0.12283	N	0.03	0.01004	-0.9607	0.39050	T	0.049	0.20829	T	8	0.0064335763	0.00146	T	.	.	.	0.068	0.19811	.	.	0.528561964389	0.52502	0.0074295419481271024	0.00708	1.44232531229	0.86002	0.248559087515	0.03618	T	6.1E-5	0.00005	T	-0.658986	0.00064	T	-0.705738	0.05518	T	0.0109316608930513	0.00157	T	0.843516	0.52087	T	0.013406869	0.00058	0.022288222	0.00256	0.013406869	0.00058	0.022288222	0.00256	-4.146	0.25966	T	.	.	0.290	0.52210	B	.;.;.	.;.;.	-0.391475	0.02244	0.229	0.15734712641667234	0.00396	0.00480	0.02286	N	AEFBCI	.	.	.	-1.19387700584909	0.05092	0.2313281	-1.27724129995446	0.04740	0.2242704	6.58607996502604E-5	0.04366	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	1.37	0.276	0.14916	-3.625000	0.00460	.	.	-0.544000	0.04925	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4036:0.0:0.5964:0.0	5.388	0.15529	982	0.03397	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	.	.	.	.	rs141258730	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006342	0.000000	0.001359	0.008197	0.000000	0.008621	0.021341	0.003788	0.02632	1740.33	33	chr19	57860088	.	G	A	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=837;ExcessHet=0;FS=4.558;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.05;MQRankSum=-0.777;QD=15;ReadPosRankSum=0.556;SOR=1.149	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1754,0,1447	18	0	1	0
chr20	3167072	3167072	G	A	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon3:c.C92T:p.P31L,LZTS3:NM_001365618:exon3:c.C92T:p.P31L,LZTS3:NM_001367609:exon3:c.C182T:p.P61L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00597474206731	.	.	1.948e-05	0	0	0	0	3.32e-05	0	0	1.94e-05	3	154602	rs747917573	4.073e-05	4.036e-05	3.945e-05	4.204e-05	7.403e-05	3.183e-05	2.906e-05	2.989e-05	2.656e-05	0	7.403e-05	0	2.606e-05	0	0	3.968e-05	0.0001	5.011e-05	4.598e-05	4.596e-05	3.852e-05	5.378e-05	0.0002	2.108e-05	1.526e-05	2.26e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	4.409e-05	0	0.0002	0.006	0.61437	D	0.681	0.06090	T	0.113	0.29046	B	0.003	0.12133	B	0.025721	0.26038	N	0.301489	0.936208	0.37147	D	1.055	0.26876	L	1.46	0.33189	T	-1.12	0.29114	N	0.226	0.42541	-1.0698	0.09458	T	0.043	0.18410	T	10	0.08103785	0.13220	T	0.005975	0.15579	T	0.027	0.05988	0.172	0.07774	0.0934897674506	0.08844	0.2794708193569957	0.27860	0.724291056453	0.62381	0.67619997263	0.63725	T	0.020133	0.15906	T	-0.25772	0.13167	T	-0.418237	0.31278	T	0.129212857409326	0.15309	T	0.875312	0.58632	D	0.07701066	0.17452	0.06169002	0.11951	0.07701066	0.17452	0.06169002	0.11950	-3.708	0.19925	T	.	.	0.091	0.16231	B	.;.;.;.	.;.;.;.	5.053966	0.84195	28.2	0.99881850624854218	0.95813	0.93840	0.59343	D	AEFDBI	0.327649	0.42855	N	-0.096527737177095	0.37543	2.185814	0.0699892430801246	0.43047	2.614718	0.999562796727197	0.40425	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.46	4.46	0.53567	2.410000	0.44245	9.570000	0.81009	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.977000	0.56843	0.0:0.191:0.6389:0.1701	7.799	0.28326	665	0.61472	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	931.33	41	chr20	3167072	.	G	A	931.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.006;DP=955;ExcessHet=0;FS=2.981;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.664;SOR=0.392	GT:AD:DP:GQ:PL	0/1:42,40:82:99:945,0,1149	18	0	1	0
chr20	9444221	9444221	C	A	exonic	PLCB4	.	nonsynonymous SNV	PLCB4:NM_001377135:exon30:c.C2822A:p.S941Y,PLCB4:NM_001377136:exon30:c.C2822A:p.S941Y,PLCB4:NM_000933:exon31:c.C2822A:p.S941Y,PLCB4:NM_001172646:exon31:c.C2858A:p.S953Y,PLCB4:NM_001377134:exon31:c.C2822A:p.S941Y,PLCB4:NM_001377143:exon31:c.C2858A:p.S953Y,PLCB4:NM_182797:exon31:c.C2822A:p.S941Y,PLCB4:NM_001377142:exon32:c.C2858A:p.S953Y	Auriculocondylar syndrome 2, Autosomal recessive, Autosomal dominant	1	1498	21	2	0	25	0.00827541	.	.	.	350501	Auriculocondylar_syndrome_2|not_provided	MONDO:MONDO:0013845,MedGen:C3553404,OMIM:614669,Orphanet:137888|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.102	0.0227457940973	0.0037	0.00259585	0.0036	0.0006	0.0013	0	0.0050	0.0053	0.0077	0.0016	0.0034152	528	154602	rs148347249	0.0028	0.0029	0.0026	0.0029	0.0176	0.0027	0.0027	0.0148	0.0138	0.0008	0.0017	0.0050	5.062e-05	0.0043	0.0176	0.0028	0.0033	0.0019	0.0028	0.0028	0.0027	0.0029	0.0039	0.0026	0.0025	0.0035	0.0034	0.0005	0	0.0035	0.0049	0	0.0039	0.0170	0.0039	0.0028	0.0027	0.011	0.56456	D	0.036	0.52727	D	0.57	0.38545	P	0.459	0.46845	P	0.000644	0.42656	D	0.250311	0.999054	0.45965	D	1.445	0.36358	L	0.83	0.47815	T	-3.02	0.64478	D	0.247	0.27910	-0.9153	0.46181	T	0.118	0.41407	T	10	0.008647591	0.00196	T	0.022746	0.45666	T	0.102	0.29158	.	.	0.69131558434	0.68866	0.22142391229415437	0.22057	0.531670624544	0.50654	0.669055700302	0.62703	T	0.602262	0.87270	D	-0.437204	0.01343	T	-0.399147	0.33482	T	0.0303985025036883	0.02052	T	0.89781	0.67446	D	0.3033463	0.53204	0.38028178	0.63064	0.36117372	0.57926	0.3719927	0.62416	-9.954	0.74324	D	0.2240441508973325	0.30252	0.201	0.48998	B	.;.;.;.;.	.;.;.;.;.	4.351790	0.66846	25.0	0.99400606058106133	0.62794	0.97399	0.74502	D	AEFGBI	0.764744	0.70144	D	0.288813958054568	0.55580	3.722137	0.442415478671174	0.64231	4.673612	0.999999684486178	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.83	5.83	0.93059	5.315000	0.65594	5.920000	0.51151	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.115	0.97926	861	0.33516	.;Phospholipase C-beta, conserved site;.;Phospholipase C-beta, 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	0	0	1	0	0.010574	0.000000	0.019022	0.008772	0.000000	0.008621	0.006098	0.003788	0.02632	747.33	54	chr20	9444221	.	C	A	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.95;DP=756;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.22;SOR=0.706	GT:AD:DP:GQ:PL	0/1:43,32:75:99:761,0,1162	18	0	1	0
chr20	10045607	10045607	G	A	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon5:c.G730A:p.V244M,ANKEF1:NM_001303472:exon6:c.G163A:p.V55M,ANKEF1:NM_022096:exon6:c.G730A:p.V244M	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00545452859586	0.0009	0.000399361	0.0014	0.0004	0.0002	0	0.0003	0.0021	0.0033	0.0013	0.0013648	211	154602	rs145365860	0.0014	0.0014	0.0014	0.0014	0.0017	0.0013	0.0013	0.0016	0.0015	0.0002	0.0004	7.656e-05	0	0.0005	0.0017	0.0016	0.0011	0.0014	0.0011	0.0011	0.0009	0.0012	0.0017	0.0009	0.0009	0.0014	0.0013	0.0003	0	0.0016	0	0	0.0003	0	0.0016	0.0009	0.0017	0.644	0.04943	T	0.429	0.13752	T	0.004	0.12183	B	0.005	0.11217	B	0.069222	0.21618	N	0.568644	0.999991	0.08975	N	0.59	0.15444	N	0.35	0.58029	T	0.31	0.04022	N	0.254	0.28732	-1.0267	0.21527	T	0.073	0.29707	T	10	0.0096743405	0.00218	T	0.005455	0.14015	T	0.115	0.32236	.	.	0.191931220699	0.18833	0.4814260143048548	0.48062	0.179909881362	0.20237	0.266176819801	0.05649	T	0.011928	0.10567	T	-0.549952	0.00292	T	-0.566423	0.15778	T	0.00633706857247029	0.00070	T	0.618638	0.23716	T	0.031478286	0.02995	0.035596196	0.02841	0.031478286	0.02994	0.035596196	0.02840	-2.633	0.06758	T	.	.	0.080	0.07937	B	.;.	.;.	-2.656160	0.00022	0.001	0.79934628475859681	0.12968	0.00981	0.03737	N	AEFI	0.038745	0.05529	N	-2.14224039503369	0.00103	0.004417572	-2.28072574654721	0.00073	0.003221303	0.999999915097221	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.97	-11.9	0.00018	-3.820000	0.00403	-5.438000	0.01718	-3.514000	0.00079	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1774:0.2631:0.2976:0.262	1.591	0.02493	917	0.20147	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	954.33	34	chr20	10045607	.	G	A	954.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.143;DP=711;ExcessHet=0;FS=1.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.3;SOR=1.003	GT:AD:DP:GQ:PL	0/1:44,41:85:99:968,0,1116	18	0	1	0
chr20	11890915	11890915	C	G	exonic	BTBD3	.	nonsynonymous SNV	BTBD3:NM_181443:exon1:c.C148G:p.R50G	.	452	1060	9	1	0	11	0.0051619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0030736	80	26028	rs182782561	0.0063	0.0037	0.0062	0.0064	0.0068	0.0062	0.0061	0.0062	0.0062	0.0008	0.0030	0.0221	0	0.0108	0.0068	0.0064	0.0073	0.0032	0.0059	0.0059	0.0061	0.0056	0.0084	0.0056	0.0054	0.0072	0.0068	0.0014	0.0296	0.0084	0.0240	0	0.0051	0.0034	0.0074	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	242.35	12	chr20	11890915	.	C	G	242.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.79;DP=278;ExcessHet=0;FS=2.702;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-1.543;SOR=0.141	GT:AD:DP:GQ:PL	0/1:12,8:20:99:256,0,299	18	0	1	0
chr20	18414509	18414509	C	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon11:c.G562A:p.G188S,DZANK1:NM_001099407:exon12:c.G1081A:p.G361S,DZANK1:NM_001351683:exon12:c.G1165A:p.G389S,DZANK1:NM_001351684:exon12:c.G1138A:p.G380S,DZANK1:NM_001367611:exon12:c.G1081A:p.G361S,DZANK1:NM_001367612:exon12:c.G1096A:p.G366S,DZANK1:NM_001367613:exon12:c.G1096A:p.G366S,DZANK1:NM_001367614:exon12:c.G1138A:p.G380S,DZANK1:NM_001367617:exon12:c.G1138A:p.G380S,DZANK1:NM_001367618:exon12:c.G1138A:p.G380S,DZANK1:NM_001367619:exon13:c.G739A:p.G247S	.	435	1063	24	0	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0029	0.0163738	0.0121	0.0108	0.0031	0.0157	0.0002	0.0030	0.0188	0.0475	0.0071603	1107	154602	rs117387390	0.0040	0.0041	0.0030	0.0051	0.0397	0.0039	0.0039	0.0386	0.0381	0.0052	0.0020	0.0131	0.0170	9.461e-05	0.0102	0.0008	0.0054	0.0397	0.0051	0.0051	0.0046	0.0057	0.0461	0.0048	0.0047	0.0411	0.0392	0.0074	0.0044	0.0035	0.0147	0.0094	0	0.0102	0.0011	0.0057	0.0461	0.657	0.04742	T	0.995	0.03840	T	0.048	0.22112	B	0.007	0.12992	B	0.593465	0.11027	N	0.846150	1	0.08975	N	1.03	0.25572	L	0.03	0.62183	T	-0.52	0.16187	N	0.093	0.07262	-1.0355	0.18700	T	0.084	0.32729	T	10	0.0018946826	0.00026	T	.	.	.	0.100	0.28662	.	.	0.0716867268079	0.06686	0.32981247459072005	0.32894	0.0444781176994	0.04800	0.299264848232	0.10291	T	0.002958	0.19158	T	-0.440485	0.01285	T	-0.375516	0.36245	T	0.00886681408336766	0.00110	T	0.468753	0.13831	T	0.07891306	0.18000	0.079279974	0.17834	0.07891306	0.17999	0.079279974	0.17834	-7.373	0.56714	T	.	.	0.092	0.15115	B	.;.;.;.	.;.;.;.	1.745336	0.22204	15.52	0.77975688133924737	0.12102	0.07701	0.13704	N	AEFBI	0.077546	0.15626	N	-0.956470880121285	0.09548	0.4523762	-0.949479354296899	0.10934	0.5539916	0.00333530487472292	0.10062	0.653281	0.48532	0	0.659037	0.61890	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.94	-2.79	0.05494	0.319000	0.19270	0.529000	0.19232	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.0:0.4367:0.0:0.5633	12.607	0.55885	665	0.61472	Double zinc ribbon;Double zinc ribbon;Double zinc ribbon;Double zinc ribbon	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014113	0.000000	0.020380	0.008772	0.000000	0.008621	0.006135	0.022727	0.05263	2187.83	40	chr20	18414509	.	C	T	2187.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.22;DP=773;ExcessHet=0.119;FS=1.31;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.221;SOR=0.587	GT:AD:DP:GQ:PL	0/1:37,36:73:99:918,0,857	17	0	2	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	0.02632	684.33	41	chr20	32839770	.	G	A	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.225;DP=888;ExcessHet=0;FS=1.938;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.631;SOR=0.873	GT:AD:DP:GQ:PL	0/1:45,29:74:99:698,0,1295	18	0	1	0
chr20	33034813	33034813	C	G	exonic	BPIFB6	.	nonsynonymous SNV	BPIFB6:NM_174897:exon4:c.C353G:p.T118S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00616498388982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	1.874e-05	0.0002	0	0	0	6.572e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.647	0.04897	T	0.221	0.25827	T	0.022	0.18677	B	0.019	0.18783	B	0.001799	0.37998	N	0.116514	0.849057	0.28523	N	1.495	0.37439	L	3.48	0.05130	T	-0.86	0.23372	N	0.271	0.30687	-1.0257	0.21853	T	0.018	0.07470	T	10	0.15988854	0.30030	T	0.006165	0.16141	T	0.104	0.29647	0.508	0.60386	0.110078149338	0.10416	0.10043846147469106	0.09974	0.0512959022533	0.05647	0.532705843449	0.43415	T	3.58E-4	0.00102	T	-0.176654	0.24235	T	-0.491528	0.23232	T	0.393372893333435	0.28692	T	0.579642	0.20943	T	0.103228144	0.24398	0.07473906	0.16380	0.103228144	0.24398	0.07473906	0.16380	-3.323	0.14035	T	.	.	0.143	0.31406	B	.	.	2.269370	0.29007	17.98	0.96934289093277815	0.31672	0.75547	0.36995	D	AEFDBI	0.370792	0.45704	N	-0.220031196612246	0.32311	1.820944	-0.0790437926186622	0.36258	2.107779	0.757345702126543	0.23455	0.500041	0.20204	0	0.563428	0.19063	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	4.21	4.21	0.48984	1.601000	0.36383	7.577000	0.60860	0.580000	0.29708	0.998000	0.41325	1.000000	0.68203	0.753000	0.35893	0.0:1.0:0.0:0.0	12.411	0.54800	102	0.95784	Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1404.33	37	chr20	33034813	.	C	G	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.793;DP=743;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.199;SOR=0.582	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1418,0,1668	18	0	1	0
chr20	35277785	35277785	G	C	exonic	MMP24OS	.	nonsynonymous SNV	MMP24OS:NM_001355003:exon2:c.C145G:p.Q49E,MMP24OS:NM_001355004:exon2:c.C145G:p.Q49E	.	1093	351	58	15	5	93	0.111392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs6060343	0.0011	0.0051	0.0011	0.0012	0.0033	0.0010	0.0010	0.0022	0.0018	0.0033	0.0015	0.0011	0.0021	5.316e-05	0.0009	0.0010	0.0017	0.0028	0.0023	0.0035	0.0027	0.0020	0.0049	0.0021	0.0020	0.0037	0.0035	0.0044	0.0018	0.0012	0.0018	0.0027	0.0012	0	0.0015	0.0044	0.0049	.	.	.	0.164	0.31026	T	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.22357	.	.	.	.	.	.	.	0.13149378	0.25026	T	.	.	.	.	.	.	.	.	.	0.007776737269016029	0.00742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244276	0.03572	T	0.08128662	0.18671	0.18744119	0.41976	0.08128662	0.18671	0.18744119	0.41975	-4.795	0.34533	T	.	.	0.072	0.04119	B	.;.	.;.	0.738447	0.11078	7.728	0.42767854438428832	0.03175	0.43818	0.27182	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999999999977	0.74766	0.08998	0.02334	0	0.098	0.03038	0	0.04985	0.00251	1	0.143876	0.04018	0	0.100184	0.22233	3.23	1.08	0.19456	0.237000	0.17763	-0.244000	0.10566	0.389000	0.20474	0.623000	0.27939	0.000000	0.08366	0.036000	0.13842	0.0:0.3493:0.6507:0.0	11.379	0.48987	421	0.81399	.;.	.	.	.	.	rs76468371	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	142.37	26	chr20	35277785	.	G	C	142.37	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.841;DP=542;ExcessHet=0;FS=0;InbreedingCoeff=0.1645;MLEAC=2;MLEAF=0.091;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.465;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,6:12:99:152,0,174	10	0	1	8
chr20	35288955	35288955	C	T	exonic	FAM83C	.	nonsynonymous SNV	FAM83C:NM_178468:exon2:c.G517A:p.V173M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0130046934248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.001	0.78490	D	0.01	0.65728	D	0.954	0.54400	P	0.828	0.59497	P	0.000868	0.41335	D	0.147714	0.867791	0.35506	D	2.355	0.67662	M	2.19	0.18724	T	-1.6	0.38540	N	0.548	0.57433	-1.0491	0.14649	T	0.064	0.26527	T	10	0.6760797	0.70999	D	0.013005	0.32054	T	0.197	0.47942	0.737	0.86978	0.195762928549	0.19159	0.5340151712181634	0.53326	0.621202361593	0.56415	0.550098955631	0.45871	T	0.175754	0.52545	T	-0.125322	0.32256	T	-0.417793	0.31328	T	0.925581157207489	0.58739	D	0.933807	0.75196	D	0.16435693	0.36638	0.14609136	0.34625	0.16435693	0.36638	0.14609136	0.34624	-8.111	0.61825	D	.	.	0.343	0.56091	A	.	.	2.467599	0.31802	18.85	0.99631005861451072	0.76020	0.40067	0.26354	N	AEFDBI	0.134244	0.25418	N	-0.24806359354785	0.31182	1.745829	-0.381709350387459	0.25543	1.405309	0.999947395924655	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.32	-0.403	0.11782	1.576000	0.36113	0.601000	0.19925	-0.258000	0.06954	0.976000	0.34826	0.316000	0.24298	0.085000	0.17524	0.0:0.4687:0.0:0.5313	8.012	0.29518	415	0.81806	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	765.33	33	chr20	35288955	.	C	T	765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.508;DP=691;ExcessHet=0;FS=1.209;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-1.491;SOR=0.512	GT:AD:DP:GQ:PL	0/1:18,30:48:99:779,0,535	18	0	1	0
chr20	35954071	35954071	G	C	exonic	SCAND1	.	nonsynonymous SNV	SCAND1:NM_033630:exon2:c.C214G:p.L72V,SCAND1:NM_001385710:exon3:c.C214G:p.L72V,SCAND1:NM_016558:exon3:c.C214G:p.L72V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00383084824038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.222e-07	6.84e-07	1.421e-06	0	9.341e-07	0	0	.	.	0	0	0	0	0	0	9.341e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.24372	T	0.632	0.07150	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	3.0	0.09167	T	-0.34	0.12661	N	0.019	0.00770	-0.9487	0.41194	T	0.017	0.06759	T	9	0.055588305	0.06100	T	0.003831	0.08961	T	0.116	0.32463	0.163	0.06730	0.17258766438	0.16869	0.1339823741224856	0.13322	0.812225268878	0.66784	0.555836200714	0.46679	T	0.026445	0.19569	T	-0.36719	0.03739	T	-0.76522	0.02929	T	0.0703783974407971	0.08704	T	0.385761	0.09460	T	0.04258512	0.06484	0.06885366	0.14434	0.04258512	0.06483	0.06885366	0.14434	-3.798	0.20775	T	.	.	0.071	0.03887	B	.;.;.	.;.;.	0.754431	0.11243	7.871	0.75913921864971712	0.11260	0.05371	0.11233	N	ALL	0.096154	0.19416	N	-0.946541848111273	0.09770	0.4638963	-0.944558829449958	0.11050	0.5605381	0.999999996126399	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.91	1.51	0.22094	0.657000	0.24647	0.744000	0.21184	0.676000	0.76740	0.003000	0.16062	0.014000	0.20376	0.001000	0.02609	0.0908:0.0:0.6698:0.2394	7.281	0.25484	691	0.58815	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	893.33	41	chr20	35954071	.	G	C	893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.544;DP=750;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.38;SOR=0.505	GT:AD:DP:GQ:PL	0/1:39,39:78:99:907,0,1044	18	0	1	0
chr20	41348658	41348658	-	G	exonic	LPIN3	.	frameshift insertion	LPIN3:NM_001301860:exon4:c.329dupG:p.L113Sfs*15,LPIN3:NM_022896:exon4:c.329dupG:p.L113Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0003	9.982e-05	0	0	0	0.0004	0	0.0003	3.84e-05	1	26028	rs756955559	0.0001	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	0.0002	0	0	1.875e-05	0.0010	0.0001	0.0001	0.0003	7.892e-05	7.878e-05	6.433e-05	9.417e-05	0.0002	4.5e-05	3.515e-05	4.771e-05	3.343e-05	7.227e-05	0	0	0	0.0002	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001022	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	732.29	35	chr20	41348658	.	T	TG	732.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-2.327;SOR=0.725	GT:AD:DP:GQ:PL	0/1:27,30:57:99:746,0,651	18	0	1	0
chr20	41362382	41362382	T	A	exonic	EMILIN3	.	nonsynonymous SNV	EMILIN3:NM_052846:exon4:c.A1187T:p.D396V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0256504403113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.051	0.47828	T	0.883	0.48537	P	0.422	0.45143	B	0.003488	0.34874	N	0.288238	1	0.81001	D	2.075	0.57047	M	2.46	0.14907	T	-3.81	0.71882	D	0.466	0.50237	-1.1228	0.02162	T	0.056	0.23639	T	9	0.36857912	0.53296	T	0.02565	0.48608	D	0.180	0.45073	0.285	0.24280	0.549545986626	0.54612	0.44539149990609533	0.44457	0.659582380596	0.58814	0.39574688673	0.24477	T	0.142353	0.47789	T	-0.0677732	0.41683	T	-0.335128	0.40895	T	0.977657556533813	0.71947	D	0.643636	0.25529	T	0.31949684	0.54598	0.23380812	0.48580	0.31949684	0.54598	0.23380812	0.48579	-5.163	0.38563	T	.	.	0.142	0.31228	B	.	.	3.735737	0.53465	23.4	0.99085344903177741	0.52075	0.97855	0.77635	D	AEFDBCIJ	0.871913	0.79353	D	0.409477650147544	0.61941	4.402433	0.440295086173821	0.64096	4.657111	0.999999992188666	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	6.955000	0.75805	6.151000	0.54196	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.801000	0.37776	0.0:0.0:0.0:1.0	14.955	0.70757	954	0.10045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1657.33	73	chr20	41362382	.	T	A	1657.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.658;DP=876;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-2.899;SOR=0.59	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1671,0,1574	18	0	1	0
chr20	41420810	41420810	T	A	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon31:c.A5825T:p.H1942L	.	416	1042	62	2	0	66	0.0306977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	0.0048	0.00259585	0.0051	0.0008	0.0073	0	0.0006	0.0067	0.0143	0.0041	0.0048188	745	154602	rs140143834	0.0048	0.0048	0.0047	0.0049	0.0472	0.0047	0.0046	0.0426	0.0408	0.0022	0.0070	0.0213	2.519e-05	0.0007	0.0472	0.0044	0.0072	0.0040	0.0045	0.0045	0.0044	0.0046	0.0108	0.0042	0.0041	0.0094	0.0089	0.0013	0.0011	0.0108	0.0233	0	0.0003	0.0476	0.0048	0.0076	0.0046	0.011	0.55530	D	0.165	0.30926	T	0.001	0.07471	B	0.002	0.06944	B	0.002783	0.35935	N	0.195101	0.614582	0.30831	N	1.995	0.54099	M	-1.97	0.85173	D	-1.3	0.32590	N	0.592	0.61172	-0.5537	0.66646	T	0.344	0.70948	T	10	0.004806787	0.00102	T	.	.	.	0.257	0.56827	.	.	0.689785631623	0.68712	0.3750919250978012	0.37423	0.189597863758	0.21281	0.446506142616	0.31466	T	0.084022	0.37186	T	-0.282742	0.10380	T	-0.176165	0.56878	T	0.0114341680343454	0.00171	T	0.763224	0.38939	T	0.094280444	0.22162	0.08424599	0.19367	0.094280444	0.22162	0.08424599	0.19367	-2.681	0.07144	T	.	.	0.100	0.17275	B	.	.	2.888150	0.38240	20.7	0.95014432481411215	0.25991	0.90439	0.51616	D	AEFBI	0.097281	0.19624	N	-0.282613491382424	0.29820	1.657095	-0.144698206204059	0.33612	1.924544	0.35311860280928	0.19703	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.86	3.56	0.39892	0.728000	0.25682	4.390000	0.43210	0.665000	0.62972	0.905000	0.31549	1.000000	0.68203	0.914000	0.44937	0.1166:0.0:0.1688:0.7146	8.132	0.30193	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037764	0.040404	0.054348	0.040936	0.000000	0.051724	0.033537	0.003788	0.05263	3315.83	61	chr20	41420810	.	T	A	3315.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.45;DP=981;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-0.572;SOR=0.726	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1465,0,1547	17	0	2	0
chr20	46186924	46186924	C	T	exonic	CDH22	.	nonsynonymous SNV	CDH22:NM_021248:exon9:c.G1447A:p.A483T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0221658802631	.	.	2.602e-05	0	0	0	0	4.604e-05	0	0	1.94e-05	3	154602	rs755330428	1.307e-05	1.71e-05	1.094e-05	1.523e-05	1.444e-05	8.36e-06	6.74e-06	8.55e-06	6.92e-06	0	0	0	0	0	0	1.444e-05	3.33e-05	1.185e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.268	0.22494	T	0.001	0.07471	B	0.001	0.04355	B	0.068810	0.21647	N	0.505774	0.711841	0.30006	N	1.23	0.30720	L	0.74	0.50459	T	-1.12	0.28906	N	0.193	0.21188	-0.9680	0.37612	T	0.085	0.33128	T	10	0.21661049	0.38248	T	0.022166	0.45031	T	0.117	0.32689	0.747	0.87821	0.44711355012	0.44333	0.34254058730101855	0.34167	.	.	0.60723900795	0.53925	T	0.030129	0.21431	T	-0.218412	0.18211	T	-0.441452	0.28646	T	0.230212144625432	0.21961	T	0.615438	0.23533	T	0.15476726	0.35013	0.18267745	0.41210	0.15476726	0.35012	0.18267745	0.41209	-6.332	0.48975	T	.	.	0.085	0.10208	B	.;.	.;.	2.772485	0.36392	20.2	0.9959546434088894	0.73866	0.91665	0.54004	D	AEFBI	0.429267	0.49245	N	-0.259478941366623	0.30726	1.716019	-0.0874684077468997	0.35907	2.083045	0.0667750772431016	0.15405	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.12	4.12	0.47504	2.572000	0.45663	3.384000	0.38022	0.577000	0.29297	0.857000	0.30561	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.560	0.75980	510	0.75209	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1144.33	34	chr20	46186924	.	C	T	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=724;ExcessHet=0;FS=8.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.47;SOR=1.5	GT:AD:DP:GQ:PL	0/1:56,42:98:99:1158,0,1378	18	0	1	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F,BCAS1:NM_001323347:exon4:c.G487T:p.V163F,BCAS1:NM_001366295:exon4:c.G487T:p.V163F,BCAS1:NM_001366296:exon4:c.G487T:p.V163F,BCAS1:NM_001366297:exon4:c.G487T:p.V163F,BCAS1:NM_001366298:exon4:c.G487T:p.V163F,BCAS1:NM_003657:exon4:c.G487T:p.V163F	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	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	0.021148	0.020202	0.019022	0.017544	0.000000	0.008621	0.030488	0.022727	0.07895	4934.79	37	chr20	54028628	.	C	A	4934.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.163;DP=1008;ExcessHet=0.3672;FS=4.732;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.449;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,54:123:99:.:.:1480,0,2004:.	16	0	3	0
chr20	54158136	54158136	G	A	exonic	CYP24A1	.	nonsynonymous SNV	CYP24A1:NM_000782:exon9:c.C1186T:p.R396W,CYP24A1:NM_001128915:exon9:c.C1186T:p.R396W	Hypercalcemia, infantile, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	38634	not_provided|Muscle_spasm|Hypercalcemia,_infantile,_1|Inborn_genetic_diseases	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003394,Human_Phenotype_Ontology:HP:0009018,MedGen:C0037763|MONDO:MONDO:0020739,MedGen:C4310232,OMIM:143880,Orphanet:300547|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.873	0.318012648288	0.0005	0.000399361	0.0007	9.724e-05	0.0002	0	0.0009	0.0010	0.0011	6.07e-05	0.0006921	107	154602	rs114368325	0.0008	0.0008	0.0008	0.0008	0.0009	0.0007	0.0007	0.0009	0.0008	0.0002	8.944e-05	7.655e-05	0	0.0015	0.0002	0.0009	0.0006	3.478e-05	0.0008	0.0008	0.0009	0.0006	0.0013	0.0007	0.0006	0.0011	0.0010	7.219e-05	0	0.0003	0	0	0.0020	0	0.0013	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	3.505	0.92816	H	-1.45	0.89363	T	-7.83	0.96005	D	0.965	0.99410	0.941	0.96259	D	0.859	0.95305	D	10	0.76755583	0.76824	D	0.318013	0.91388	D	0.873	0.96207	.	.	0.955333933826	0.95486	0.9212887468366902	0.92104	0.390435494056	0.40253	0.682484388351	0.64626	T	0.844569	0.96405	D	0.12348	0.66719	D	0.374515	0.91234	D	0.200067238336662	0.20420	T	0.979152	0.92740	D	0.9481788	0.96080	0.9315219	0.97199	0.9427925	0.95532	0.94267696	0.97942	-12.969	0.89235	D	.	.	0.699	0.76856	P	.;.;.	.;.;.	5.007787	0.83134	28.0	0.99913873445359669	0.98238	0.82775	0.41958	D	AEFDBCI	0.592741	0.58833	D	0.582586247318138	0.72088	5.751001	0.451663966231781	0.64823	4.746654	0.999994794200743	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	2.05	0.25860	1.716000	0.37601	3.890000	0.40289	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.5947:0.4053	15.054	0.71563	959	0.08690	.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	841.33	35	chr20	54158136	.	G	A	841.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=727;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.29;SOR=0.536	GT:AD:DP:GQ:PL	0/1:33,34:67:99:855,0,757	18	0	1	0
chr20	57616295	57616295	C	T	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160417:exon2:c.G208A:p.G70R,ZBP1:NM_001160419:exon2:c.G208A:p.G70R,ZBP1:NM_030776:exon2:c.G208A:p.G70R	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0060	0.00419329	0.0027	0.0112	0.0006	0.0001	0	0.0025	0.0011	0.0019	0.0024838	384	154602	rs34964609	0.0014	0.0014	0.0014	0.0015	0.0136	0.0014	0.0013	0.0126	0.0122	0.0136	0.0013	0.0346	0	0	0.0059	0.0002	0.0035	0.0016	0.0049	0.0049	0.0053	0.0044	0.0128	0.0046	0.0045	0.0119	0.0116	0.0128	0	0.0017	0.0389	0.0002	0	0.0068	0.0005	0.0043	0.0004	0.156	0.25154	T	0.018	0.60972	D	0.627	0.40110	P	0.113	0.31689	B	0.041386	0.01891	N	2.183150	1	0.08975	N	1.155	0.29575	L	2.68	0.14160	T	-1.18	0.30140	N	0.062	0.06322	-1.0108	0.26666	T	0.009	0.03227	T	10	0.0031135082	0.00052	T	.	.	.	0.059	0.16972	0.061	0.00225	0.156986980423	0.15292	0.22140616143073116	0.22055	0.327190081899	0.34854	0.287139356136	0.08508	T	0.021961	0.17012	T	-0.741878	0.00020	T	-0.827402	0.01309	T	0.00490808428772134	0.00053	T	0.353365	0.07952	T	0.055367734	0.10752	0.067521274	0.13980	0.055367734	0.10751	0.067521274	0.13980	-3.986	0.25922	T	.	.	0.134	0.31279	B	.;.	.;.	0.406319	0.07776	4.460	0.77448902718689139	0.11880	0.00677	0.02910	N	AEFDGBI	0.052077	0.09259	N	-1.21888180718147	0.04727	0.213924	-1.33913012214583	0.03936	0.1846243	0.753907358740411	0.23403	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.63	-2.86	0.05376	-1.962000	0.01605	-8.878000	0.00900	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3774:0.0:0.6226	8.677	0.33346	823	0.40596	Double-stranded RNA-specific adenosine deaminase (DRADA);.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.015152	0.006793	0.017544	0.000000	0.000000	0.003049	0.003788	0.02632	132.33	33	chr20	57616295	.	C	T	132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=677;ExcessHet=0;FS=1.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=-0.602;SOR=1.23	GT:AD:DP:GQ:PL	0/1:30,7:37:99:146,0,774	18	0	1	0
chr20	57616351	57616351	C	T	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160417:exon2:c.G152A:p.R51Q,ZBP1:NM_001160419:exon2:c.G152A:p.R51Q,ZBP1:NM_030776:exon2:c.G152A:p.R51Q	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0045	0.00399361	0.0011	0.0112	0.0005	0	0	5.993e-05	0	0.0001	0.0010284	159	154602	rs142665294	0.0004	0.0004	0.0005	0.0003	0.0130	0.0004	0.0004	0.0120	0.0116	0.0130	0.0011	0	0	3.744e-05	0.0007	3.058e-05	0.0008	0.0001	0.0037	0.0037	0.0041	0.0033	0.0128	0.0035	0.0034	0.0119	0.0116	0.0128	0	0.0014	0	0	0	0	7.351e-05	0.0028	0	0.162	0.23631	T	0.018	0.60972	D	0.809	0.45342	P	0.175	0.35598	B	0.280155	0.14961	N	0.508601	0.999983	0.23003	N	0.805	0.20218	L	0.52	0.55266	T	-1.51	0.36787	N	0.082	0.05799	-1.0547	0.13119	T	0.042	0.17952	T	10	0.0055773556	0.00123	T	.	.	.	0.066	0.19193	.	.	0.354610295913	0.35065	0.2863155054714661	0.28544	0.275091832937	0.29991	0.228240907192	0.01840	T	0.036418	0.24096	T	-0.649418	0.00073	T	-0.695232	0.06090	T	0.033437154799019	0.02542	T	0.739426	0.36682	T	0.092612036	0.21731	0.07772562	0.17343	0.092612036	0.21730	0.07772562	0.17343	-7.475	0.57434	T	.	.	0.094	0.16929	B	.;.	.;.	1.167230	0.15569	11.94	0.97625527316083771	0.34989	0.00505	0.02373	N	AEFDGBI	0.034233	0.04204	N	-0.966517970464211	0.09325	0.4408886	-1.11473218537511	0.07419	0.3607591	0.801518095230051	0.24194	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.63	-3.18	0.04867	-1.228000	0.03057	-3.768000	0.02550	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.210000	0.22183	0.0:0.3074:0.0:0.6926	9.179	0.36290	823	0.40596	Double-stranded RNA-specific adenosine deaminase (DRADA)|Double-stranded RNA-specific adenosine deaminase (DRADA);.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.010101	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	443.33	33	chr20	57616351	.	C	T	443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.825;DP=696;ExcessHet=0;FS=10.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.438;SOR=2.081	GT:AD:DP:GQ:PL	0/1:35,20:55:99:457,0,862	18	0	1	0
chr20	59007078	59007078	-	AGCAGCACG	exonic	CTSZ	.	nonframeshift insertion	CTSZ:NM_001336:exon1:c.50_51insCGTGCTGCT:p.L17_A18insVLL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	0.0001537	4	26028	rs767108602	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0070	0.0066	0.0078	0.0004	0	0	0	0.0005	1.917e-06	0.0008	0	0.0019	0.0019	0.0021	0.0018	0.0068	0.0018	0.0017	0.0061	0.0059	0.0068	0	0.0007	0	0	0	0	1.471e-05	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	580.32	19	chr20	59007078	.	C	CAGCAGCACG	580.32	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=285;ExcessHet=0;FS=1.51;InbreedingCoeff=-0.029;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.49;ReadPosRankSum=-0.684;SOR=1.061	GT:AD:DP:GQ:PL	0/1:12,15:27:99:594,0,459	18	0	1	0
chr20	62310503	62310503	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon76:c.C10516T:p.R3506W	.	403	1106	12	1	0	14	0.00628931	.	.	.	2374032	LAMA5-related_disorder|Inborn_genetic_diseases	.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0334919233534	.	0.000199681	0.0002	0	0.0004	0	0	8.495e-05	0.0027	0.0006	0.0001552	24	154602	rs533441062	0.0001	0.0001	8.866e-05	0.0001	0.0026	9.041e-05	8.509e-05	0.0015	0.0012	0	0.0005	0	0	0	0.0026	4.849e-05	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0004	7.214e-05	0	0.0009	0	0	0	0	0.0002	0	0.0008	0.066	0.36113	T	0.024	0.56640	D	0.997	0.70673	D	0.446	0.45959	B	0.541681	0.05317	N	1.250980	1	0.08975	N	2.175	0.60977	M	2.05	0.20664	T	-3.05	0.62976	D	0.411	0.45142	-0.9942	0.31512	T	0.058	0.24354	T	10	0.054679066	0.05860	T	0.033492	0.55016	D	0.056	0.15993	0.467	0.53891	0.338449385132	0.33456	0.42126804897189174	0.42042	.	.	0.339464694262	0.16358	T	0.19636	0.55272	T	-0.429112	0.01500	T	-0.500133	0.22333	T	0.0754072055996979	0.09389	T	0.829117	0.49388	T	0.074384496	0.16690	0.08253064	0.18843	0.074384496	0.16690	0.08253064	0.18843	-7.055	0.54435	T	.	.	0.120	0.24800	B	.	.	3.040309	0.40753	21.2	0.99788791021676959	0.87484	0.09359	0.15131	N	AEFDBHCI	0.208683	0.33474	N	-0.248642568077362	0.31158	1.744319	-0.368894836170995	0.25930	1.42906	0.99987059709518	0.44625	0.67177	0.52595	0	0.588066	0.40923	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.15	1.82	0.24209	0.263000	0.18247	2.630000	0.33687	0.674000	0.70861	0.000000	0.06391	0.118000	0.22871	0.558000	0.30364	0.0:0.1343:0.4514:0.4143	9.121	0.35950	779	0.47767	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.002725	0.003012	0.000000	0.000000	0.000000	0.003788	0.02632	739.33	37	chr20	62310503	.	G	A	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.489;DP=923;ExcessHet=0;FS=9.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.23;SOR=1.315	GT:AD:DP:GQ:PL	0/1:47,31:78:99:753,0,1182	18	0	1	0
chr20	62318482	62318482	C	G	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon53:c.G7211C:p.R2404P	.	402	1111	3	0	6	9	0.00134831	.	.	.	742501	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.064	.	.	0.0081869	0.0033	0.0003	8.731e-05	0	0.0003	4.635e-05	0	0.0231	0.002846	440	154602	rs144740011	0.0014	0.0014	0.0008	0.0020	0.0227	0.0014	0.0014	0.0219	0.0215	0.0001	0	0	2.522e-05	6.111e-05	0.0007	2.973e-05	0.0015	0.0227	0.0008	0.0009	0.0005	0.0012	0.0255	0.0007	0.0007	0.0218	0.0204	4.955e-05	0	0	0	0	9.696e-05	0	1.491e-05	0.0010	0.0255	0.23	0.18308	T	0.211	0.26631	T	0.299	0.32525	B	0.223	0.37929	B	0.210410	0.16379	U	0.536654	0.994869	0.23425	N	2.34	0.67151	M	2.9	0.10101	T	-2.09	0.47683	N	0.574	0.59648	-1.0054	0.28337	T	0.022	0.09284	T	10	0.0071923435	0.00164	T	.	.	.	0.064	0.18567	0.655	0.79276	0.448331077784	0.44456	0.663603910566165	0.66297	.	.	0.598313808441	0.52666	T	0.054004	0.29602	T	-0.561768	0.00248	T	-0.562797	0.16115	T	0.0334827145822502	0.02551	T	0.644935	0.25655	T	0.39162743	0.60147	0.3035783	0.56388	0.39162743	0.60148	0.3035783	0.56387	-7.835	0.59940	D	.	.	0.458	0.62606	A	.	.	1.750001	0.22263	15.55	0.99169232052885159	0.54326	0.23062	0.21953	N	AEFDGBHCI	0.289308	0.40099	N	-0.547531695042151	0.20561	1.084803	-0.504434448532143	0.22033	1.194716	0.999988371951661	0.51787	0.634777	0.41761	0	0.626922	0.53725	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	3.67	0.543	0.16370	0.667000	0.24794	-2.045000	0.04296	-0.914000	0.02241	0.694000	0.28569	0.000000	0.08366	0.907000	0.44265	0.3198:0.3562:0.0:0.324	3.195	0.06235	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	508.33	37	chr20	62318482	.	C	G	508.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.484;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=0.208;SOR=0.6	GT:AD:DP:GQ:PL	0/1:35,24:59:99:522,0,909	18	0	1	0
chr20	62909840	62909840	C	G	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon4:c.G1020C:p.W340C,DIDO1:NM_001193370:exon4:c.G1020C:p.W340C,DIDO1:NM_022105:exon4:c.G1020C:p.W340C,DIDO1:NM_033081:exon4:c.G1020C:p.W340C,DIDO1:NM_080796:exon4:c.G1020C:p.W340C,DIDO1:NM_080797:exon4:c.G1020C:p.W340C	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0136455588266	.	.	7.413e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs781146818	5.472e-05	5.472e-05	2.995e-05	7.975e-05	0.0008	4.476e-05	4.147e-05	0.0007	0.0006	0	0	0	0	0	0	8.093e-06	1.656e-05	0.0008	2.628e-05	2.627e-05	0	5.379e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.408	0.15770	T	0.18	0.29442	T	0.0	0.02946	B	0.0	0.01387	B	0.611243	0.05702	N	1.297410	1	0.08975	N	-1.79	0.00298	N	3.19	0.16492	T	1.4	0.01428	N	0.149	0.29544	-0.9419	0.42314	T	0.011	0.04181	T	10	0.012088567	0.00261	T	0.013646	0.33213	T	0.033	0.08068	0.306	0.27646	0.128874641272	0.12493	0.45961112581704583	0.45879	0.585879872022	0.54213	0.252736538649	0.04061	T	0.042862	0.26319	T	-0.616397	0.00116	T	-0.752102	0.03404	T	0.0384259792099248	0.03407	T	0.20228	0.02325	T	0.046979252	0.07955	0.03756565	0.03437	0.046979252	0.07954	0.03756565	0.03437	-2.164	0.04378	T	.	.	0.112	0.22609	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.254525	0.00479	0.010	0.34358096262894172	0.02097	0.12783	0.17477	N	AEFDBCI	0.068911	0.13615	N	-2.19216323608035	0.00080	0.003421255	-2.26566521991988	0.00079	0.003491077	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	-10.7	0.00191	-2.781000	0.00843	-0.646000	0.08053	-1.487000	0.01050	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4136:0.3558:0.0884:0.1422	4.684	0.12131	809	0.43032	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1747.33	40	chr20	62909840	.	C	G	1747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=837;ExcessHet=0;FS=1.301;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.084;SOR=0.854	GT:AD:DP:GQ:PL	0/1:84,65:149:99:1761,0,2358	18	0	1	0
chr20	63250045	63250045	-	A	exonic	NKAIN4	.	stopgain	NKAIN4:NM_152864:exon2:c.81dupT:p.D28*	.	430	1083	7	2	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0.0002	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775737748	3.472e-05	3.489e-05	9.656e-06	6.013e-05	0.0006	2.671e-05	2.411e-05	0.0004	0.0004	0	0	0	0	0	0	0	5.04e-05	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000506	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.003817	0.02632	1424.29	38	chr20	63250045	.	C	CA	1424.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.923;DP=837;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.391;SOR=0.765	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1438,0,1945	18	0	1	0
chr20	63295151	63295151	T	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon2:c.T44A:p.L15Q	.	414	1106	1	0	1	2	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.124948773614	.	0.000199681	0.0026	0	0	0	0	0.0001	0	0.0061	0.0004204	65	154602	rs562736407	0.0003	0.0003	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0034	0	2.754e-05	3.962e-05	0	0	0.0014	2.681e-05	6.868e-05	0.0039	9.844e-05	9.841e-05	7.706e-05	0.0001	0.0019	5.999e-05	4.874e-05	0.0010	0.0007	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0019	0.002	0.72154	D	0.001	0.83351	D	0.838	0.46404	P	0.154	0.34351	B	0.068312	0.21681	U	0.344944	0.999649	0.20796	N	1.935	0.51832	L	-2.4	0.88455	D	-1.1	0.30555	N	0.454	0.49146	-0.4139	0.71586	T	0.422	0.76710	T	10	0.010349393	0.00231	T	0.124949	0.80638	D	0.380	0.69780	.	.	0.945138907413	0.94456	0.06785273740485351	0.06723	0.187536431383	0.21074	0.515042424202	0.40929	T	0.01626	0.13477	T	-0.280383	0.10627	T	-0.175535	0.56936	T	0.0295577430784083	0.01921	T	0.517648	0.16760	T	0.33505303	0.55882	0.30229038	0.56261	0.33505303	0.55882	0.30229038	0.56260	-11.112	0.80711	D	.	.	0.19	0.45726	B	.;.	.;.	2.746574	0.35986	20.1	0.97825216421556571	0.36220	0.54534	0.29639	D	AEFDBCI	0.076055	0.15291	N	-0.163012969332385	0.34681	1.982623	-0.205212424869282	0.31348	1.773257	0.978249739807437	0.29902	0.59774	0.34471	0	0.588066	0.40923	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.84	1.74	0.23636	0.313000	0.19165	3.010000	0.35957	0.502000	0.22824	0.001000	0.13787	1.000000	0.68203	0.117000	0.19042	0.0:0.1756:0.0:0.8244	3.913	0.08713	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000526	0.000000	0.001408	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2472.33	40	chr20	63295151	.	T	A	2472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.062;DP=794;ExcessHet=0;FS=2.856;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-1.447;SOR=0.758	GT:AD:DP:GQ:PL	0/1:65,90:155:99:2486,0,1656	18	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	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:139,117:256:99:2887,0,3574	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:119,92:211:99:2340,0,3242	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:65,49:114:99:1076,0,1618	3	5	11	0
chr21	26468605	26468605	C	G	exonic	CYYR1	.	nonsynonymous SNV	CYYR1:NM_001320768:exon4:c.G364C:p.E122Q,CYYR1:NM_052954:exon4:c.G361C:p.E121Q	.	417	1098	2	0	5	7	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0248084669113	0.0005	0.000798722	0.0007	0	0.0003	0	0	0.0011	0	0.0002	0.0006533	101	154602	rs140249086	0.0009	0.0009	0.0009	0.0008	0.0016	0.0008	0.0008	0.0010	0.0010	5.986e-05	0.0006	0.0006	0	3.756e-05	0.0016	0.0010	0.0008	0.0001	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0010	0.0010	9.636e-05	0	0.0008	0.0020	0	9.463e-05	0	0.0013	0.0005	0	0.0	0.91255	D	0.067	0.44302	T	0.657	0.40850	P	0.229	0.38155	B	0.000000	0.84330	D	0.000000	0.983615	0.81001	D	1.1	0.28011	L	1.05	0.39990	T	-2.48	0.54059	N	0.448	0.48596	-0.7467	0.58107	T	0.215	0.57613	T	10	0.025733769	0.00759	T	0.024808	0.47795	T	0.170	0.43303	.	.	0.355242300401	0.35136	0.537518164338733	0.53676	0.326001465855	0.34754	0.537874102592	0.44145	T	0.090101	0.38513	T	-0.311541	0.07613	T	-0.276632	0.47148	T	0.122694671154022	0.14691	T	0.748325	0.36895	T	0.62720555	0.74149	0.4720059	0.69390	0.62720555	0.74150	0.4720059	0.69390	-2.181	0.03949	T	.	.	0.167	0.36772	B	.	.	4.183112	0.62987	24.5	0.9980737987371755	0.89174	0.85847	0.45027	D	AEFBI	0.501633	0.53439	D	0.344164117947522	0.58432	4.015418	0.293202052084367	0.55141	3.67754	0.999521191472815	0.40175	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.13	4.13	0.47661	4.305000	0.58905	6.895000	0.56853	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.078000	0.17132	0.0:1.0:0.0:0.0	12.223	0.53759	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	1981.83	35	chr21	26468605	.	C	G	1981.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.45;DP=754;ExcessHet=0.119;FS=2.105;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.28;SOR=0.916	GT:AD:DP:GQ:PL	0/1:31,44:75:99:1148,0,779	17	0	2	0
chr21	28943668	28943668	T	C	exonic	LTN1	.	nonsynonymous SNV	LTN1:NM_001320766:exon22:c.A4177G:p.K1393E,LTN1:NM_015565:exon23:c.A4219G:p.K1407E	.	.	.	.	.	.	.	.	0.9953	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00848075332969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359262006	2.804e-06	2.737e-06	5.598e-06	0	0.0002	6.6e-07	4.4e-07	1.783e-05	8.94e-06	0	6.722e-05	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.51248	D	0.01	0.65728	D	0.996	0.68779	D	0.923	0.65830	D	0.000000	0.84330	D	0.051740	0.999999	0.58761	D	2.28	0.64929	M	2.12	0.19860	T	-1.64	0.39314	N	0.7	0.71321	-1.1051	0.03527	T	0.073	0.29419	T	10	0.49839425	0.61402	T	0.008481	0.22432	T	0.187	0.46274	0.375	0.38830	0.143184338766	0.13958	0.5276165839940974	0.52685	1.02385248227	0.75201	0.685943603516	0.65123	T	0.168715	0.51582	T	-0.0695506	0.41400	T	-0.140038	0.60114	T	0.891304612159729	0.54224	D	0.891911	0.62748	D	0.3985861	0.60634	0.31856158	0.57823	0.3985861	0.60635	0.31856158	0.57822	-4.427	0.29921	T	.	.	0.407	0.59975	A	.;.;.	.;.;.	5.309426	0.89129	29.9	0.99876166920241416	0.95328	0.71449	0.35018	D	AEFBHCIJ	0.919998	0.89133	D	0.503163048028875	0.67276	5.060151	0.526760408150885	0.69796	5.411861	0.999999999999756	0.74766	0.730579	0.87903	0	0.708844	0.79440	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	4.68	4.68	0.58319	7.425000	0.79444	7.903000	0.73657	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.588	0.67939	974	0.05496	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	751.33	37	chr21	28943668	.	T	C	751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.519;DP=698;ExcessHet=0;FS=1.186;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.78;SOR=0.5	GT:AD:DP:GQ:PL	0/1:30,29:59:99:765,0,888	18	0	1	0
chr21	29071990	29071995	TGTTGT	-	splicing	CCT8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451945016	2.197e-05	2.545e-05	2.797e-05	1.69e-05	6.26e-05	1.171e-05	9.25e-06	1.037e-05	5.5e-06	0	2.931e-05	0	6.26e-05	0	0	1.905e-05	3.294e-05	3.212e-05	3.309e-05	3.286e-05	0	6.778e-05	0.0006	1.268e-05	8.03e-06	0.0002	8.423e-05	0	0	0	0	0.0006	0	0	2.944e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	355.29	35	chr21	29071989	.	CTGTTGT	C	355.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-0.288;SOR=0.576	GT:AD:DP:GQ:PL	0/1:30,18:48:99:369,0,1173	18	0	1	0
chr21	36386183	36386183	T	C	exonic	CHAF1B	.	nonsynonymous SNV	CHAF1B:NM_005441:exon2:c.T47C:p.V16A	.	435	1079	8	0	0	8	0.00369344	.	.	.	2824733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.817	0.174282421173	0.0042	0.00159744	0.0028	0.0007	0.0026	0	0.0027	0.0039	0.0066	0.0008	0.0027749	429	154602	rs143543321	0.0042	0.0042	0.0044	0.0040	0.0061	0.0041	0.0041	0.0048	0.0048	0.0007	0.0015	0.0042	0	0.0020	0.0061	0.0049	0.0041	0.0010	0.0027	0.0027	0.0029	0.0025	0.0046	0.0025	0.0024	0.0042	0.0040	0.0009	0	0.0012	0.0049	0	0.0014	0	0.0046	0.0019	0.0019	0.002	0.72154	D	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	3.695	0.94570	H	-0.73	0.73100	T	-3.85	0.72353	D	0.827	0.82257	0.261	0.86931	D	0.512	0.81676	D	9	0.027602911	0.00904	T	0.174282	0.85072	D	0.817	0.94123	.	.	0.808841128825	0.80705	0.7311433982500816	0.73059	1.86911652642	0.92500	0.75436258316	0.75091	T	0.315172	0.68680	T	-0.0628726	0.42457	T	0.140637	0.79585	D	0.0960609113040382	0.11918	T	0.878612	0.59406	D	0.6977844	0.77935	0.65177816	0.79622	0.7321927	0.79849	0.66192806	0.80189	-12.608	0.87686	D	.	.	0.968	0.89140	P	.	.	5.329681	0.89445	30	0.99859151408010161	0.93729	0.90671	0.52042	D	AEFDGBCIJ	0.857451	0.77481	D	0.756171189959252	0.83308	7.983173	0.673593159700484	0.80377	7.285662	0.999999999995419	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	4.61	4.61	0.56724	7.577000	0.81779	7.713000	0.66906	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.701	0.62090	969	0.06854	.	.	.	.	.	.	Likely benign	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	1	0	0.006546	0.005051	0.005435	0.000000	0.000000	0.017241	0.015244	0.003788	0.02632	1437.33	34	chr21	36386183	.	T	C	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.543;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.507;SOR=0.631	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1451,0,1638	18	0	1	0
chr21	44591871	44591871	G	A	exonic	KRTAP10-6	.	nonsynonymous SNV	KRTAP10-6:NM_198688:exon1:c.C614T:p.T205I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00139592827094	.	.	3.305e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs781822468	7.564e-06	7.526e-06	1.369e-06	1.382e-05	0.0001	4.06e-06	2.97e-06	7.139e-05	5.493e-05	0	0	0	0	0	0	0	0	0.0001	1.467e-05	2.135e-05	0	3.017e-05	6.526e-05	2.44e-06	9.1e-07	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.18	0.21968	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.92	0.01404	T	-1.45	0.35597	N	0.137	0.13484	.	.	.	.	.	.	.	0.077114284	0.12130	T	0.001396	0.02037	T	.	.	.	.	0.101711395817	0.09552	0.03189364696184953	0.03138	.	.	.	.	.	.	.	.	-0.384889	0.02901	T	-0.530964	0.19191	T	0.0182503307014416	0.00545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14108	B	.	.	1.481423	0.19071	14.07	0.9177451103914025	0.21077	0.03084	0.08003	N	AEFBCI	0.029480	0.02791	N	-0.488022542452154	0.22473	1.200209	-0.7908157556664	0.14721	0.770624	0.0147114135511156	0.12629	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	2.36	-0.729	0.10596	0.056000	0.14136	-2.389000	0.03815	0.318000	0.19305	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.0:0.0:0.2798:0.7202	8.313	0.31242	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	2551.71	310	chr21	44591871	.	G	A	2551.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.85;DP=2851;ExcessHet=0;FS=3.901;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=59.81;MQRankSum=1.21;QD=12.04;ReadPosRankSum=0.185;SOR=0.953	GT:AD:DP:GQ:PL	0/1:114,98:212:99:2565,0,3359	17	0	1	1
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	24382.0	387	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	24382.0	.	AC=12;AF=0.353;AN=34;BaseQRankSum=2.29;DP=6389;ExcessHet=1.4183;FS=0.542;InbreedingCoeff=-0.0358;MLEAC=13;MLEAF=0.382;MQ=59.94;MQRankSum=0;QD=5.44;ReadPosRankSum=0.634;SOR=0.786	GT:AD:DP:GQ:PL	0/1:143,153:296:99:5857,0,5390	7	2	8	2
chr21	46126222	46126222	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon26:c.G2407A:p.D803N,COL6A2:NM_058174:exon26:c.G2407A:p.D803N,COL6A2:NM_058175:exon26:c.G2407A:p.D803N	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	471756	Bethlem_myopathy_1A|COL6A2-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.202	0.107825436935	.	.	6.768e-05	0	8.72e-05	0.0001	0	9.3e-05	0	0	5.82e-05	9	154602	rs761913437	8.014e-05	7.935e-05	8.25e-05	7.775e-05	0.0023	6.8e-05	6.329e-05	0.0013	0.0011	2.988e-05	2.237e-05	0	2.521e-05	0	0.0023	8.1e-05	8.3e-05	5.797e-05	4.604e-05	4.598e-05	5.143e-05	4.04e-05	0.0002	2.111e-05	1.528e-05	2.847e-05	1.859e-05	2.416e-05	0	0	0	0.0002	0	0	7.352e-05	0	0	0.495	0.09896	T	0.341	0.34359	T	0.001	0.07471	B	0.002	0.06944	B	0.002508	0.36425	N	0.296319	0.999996	0.08975	N	0	0.06538	N	-1.13	0.77719	T	-0.39	0.17624	N	0.688	0.69387	-0.9363	0.43195	T	0.261	0.63197	T	10	0.45618254	0.59003	T	0.107825	0.78408	D	0.202	0.48754	0.38	0.39645	0.759971447399	0.75779	0.6593918055679763	0.65876	0.15656143693	0.17672	0.457997202873	0.33036	T	0.163402	0.50845	T	-0.267118	0.12080	T	-0.415967	0.31539	T	0.0414229493846367	0.03949	T	0.953805	0.82399	D	0.06201191	0.12907	0.048520453	0.07222	0.06201191	0.12906	0.048520453	0.07222	-5.916	0.45571	T	0.15371393300349107	0.18304	0.070	0.07650	B	.;.;.;.	.;.;.;.	2.183203	0.27831	17.59	0.91438547529643222	0.20707	0.61994	0.31648	D	AEFDBI	0.328135	0.42889	N	-0.434955790100519	0.24253	1.308251	-0.351966541398685	0.26447	1.460932	0.99998734695906	0.51787	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.81	2.9	0.32809	3.300000	0.51541	5.603000	0.49031	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0911:0.1545:0.7544:0.0	8.289	0.31108	976	0.04745	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2206.33	41	chr21	46126222	.	G	A	2206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.744;DP=876;ExcessHet=0;FS=1.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.404;SOR=0.881	GT:AD:DP:GQ:PL	0/1:72,78:150:99:2220,0,2176	18	0	1	0
chr21	46363783	46363783	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon14:c.C2104T:p.R702C,PCNT:NM_006031:exon14:c.C2458T:p.R820C	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	377335	not_provided|PCNT-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.070	0.0562089914483	7.7e-05	.	0.0002	9.726e-05	8.651e-05	0	0	0.0003	0	0	0.0001617	25	154602	rs369586175	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	8.966e-05	2.237e-05	3.826e-05	0	0	0	0.0002	6.625e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.575e-05	6.28e-05	0.0001	8.876e-05	9.646e-05	0	0	0	0.0002	0	0	0.0002	0	0	0.067	0.35918	T	0.002	0.79402	D	0.801	0.45051	P	0.08	0.28873	B	0.088355	0.20485	N	0.258978	0.572427	0.31167	N	2.075	0.57047	M	1.78	0.25678	T	-3.64	0.69835	D	0.407	0.44761	-0.9817	0.34608	T	0.042	0.18160	T	10	0.17512968	0.32428	T	0.056209	0.66522	D	0.070	0.20419	.	.	0.500426043041	0.49678	0.07328031521787719	0.07265	0.456923581491	0.45342	0.311188578606	0.12086	T	0.198162	0.55505	T	-0.322689	0.06679	T	-0.411154	0.32093	T	0.10286127446137	0.12669	T	0.816218	0.47186	T	0.12845284	0.30030	0.12412621	0.29922	0.12845284	0.30030	0.12412621	0.29921	-8.298	0.63082	D	.	.	0.124	0.26010	B	.	.	4.028796	0.59562	24.1	0.9982566955130312	0.90764	0.83621	0.42726	D	AEFDBI	0.218643	0.34362	N	0.00998915019766952	0.42308	2.546774	0.0766525710351052	0.43378	2.640717	0.664565686691665	0.22308	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.27	3.34	0.37357	1.695000	0.37381	3.475000	0.38608	0.549000	0.26987	0.973000	0.34540	1.000000	0.68203	0.887000	0.42601	0.2719:0.6335:0.0:0.0946	5.943	0.18440	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2602.33	41	chr21	46363783	.	C	T	2602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=800;ExcessHet=0;FS=1.986;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=1.38;SOR=0.548	GT:AD:DP:GQ:PL	0/1:67,93:160:99:2616,0,1627	18	0	1	0
chr22	18925164	18925164	C	T	exonic	LOC102724788;PRODH	.	stopgain	PRODH:NM_001195226:exon4:c.G230A:p.W77X,LOC102724788:NM_001368249:exon4:c.G554A:p.W185X,LOC102724788:NM_001368250:exon4:c.G230A:p.W77X,PRODH:NM_016335:exon4:c.G554A:p.W185X	.	0	1384	130	8	0	146	0.050103	.	.	.	469889	Schizophrenia_4|Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0010943,MedGen:C1833247,OMIM:600850|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0583	0.0563099	0.0400	0.1047	0.0288	0.0276	0.0293	0.0383	0.0453	0.0242	0.0379426	5866	154602	rs11913840	3.785e-05	0.0004	0	6.825e-05	7.066e-05	0	0	.	.	0	0	0	0	0	0	7.066e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094139	0.20188	N	0.520350	1.46935e-18	0.81001	P	.	.	.	.	.	.	.	.	.	0.579	0.60749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239079	0.15466	T	-0.0293432	0.68412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	3.880428	0.56390	23.7	0.88814784672952418	0.18278	0.05045	0.10832	N	AEFDBI	0.367121	0.45469	N	-0.29800949331419	0.29226	1.618826	-0.742117687753555	0.15916	0.8394609	0.999810399753712	0.43459	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	-6.11	0.01950	-0.056000	0.11744	-3.174000	0.02998	0.525000	0.24333	0.001000	0.13787	0.000000	0.08366	0.057000	0.15750	0.1017:0.1914:0.564:0.1429	6.835	0.23113	929	0.16858	.;.;.;.;.	.	.	.	.	rs11913840	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	1	0	0.109768	0.287879	0.143052	0.090643	0.050000	0.068966	0.048780	0.034091	0.02632	1539.33	33	chr22	18925164	.	C	T	1539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.51;DP=750;ExcessHet=0;FS=1.448;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=2.13;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,56:122:99:0|1:18925164_C_T:1553,0,1576:18925164	18	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,121:121:99:1|1:18925164_C_T:4476,363,0:18925164	2	12	5	0
chr22	18936116	18936116	C	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	LOC102724788:NM_001368249:exon1:c.G172A:p.A58T,PRODH:NM_016335:exon1:c.G172A:p.A58T	.	24	1429	63	6	0	75	0.0255711	.	.	.	470907	not_provided|Proline_dehydrogenase_deficiency	MedGen:C3661900|MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.015	.	0.0178	0.0297524	0.0113	0.0437	0.0270	0	.	0.0276	0.0521	0.0047	0.0057955	896	154602	rs146648839	.	0.0005	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.004238	0.33968	N	0.182978	0.998905	0.58761	P	.	.	.	1.87	0.24085	T	0.13	0.05503	N	0.017	0.00226	-1.0297	0.20551	T	0.000	0.00152	T	9	0.0018523335	0.00025	T	.	.	.	0.015	0.02232	.	.	.	.	0.19949824960512247	0.19866	0.267482903043	0.29292	0.879037797451	0.93830	D	0.001812	0.01233	T	-0.760368	0.00015	T	-0.81943	0.01464	T	0.00535536718093038	0.00058	T	0.640736	0.25328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05017	B	.;.	.;.	-0.781814	0.01143	0.053	0.96452116232186036	0.29869	0.03046	0.07940	N	AEFDBHCI	0.057252	0.10648	N	-1.61886401112635	0.01173	0.05099661	-1.5572768422115	0.01926	0.08788814	0.999999863836608	0.74766	0.441713	0.08003	0	0.514364	0.08380	0	0.52208	0.10781	0	0.554799	0.18163	0	.	.	2.4	-4.35	0.03402	-1.259000	0.02970	-4.364000	0.02195	-0.634000	0.04471	0.058000	0.21700	0.000000	0.08366	0.092000	0.17891	0.3523:0.232:0.0:0.4157	2.731	0.04906	929	0.16858	.;.	.	.	.	.	rs146648839	Likely benign	0	0	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	0.080038	0.218310	0.143357	0.026786	0.000000	0.050000	0.033333	0.007042	0.02632	653.33	41	chr22	18936116	.	C	T	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=751;ExcessHet=0;FS=7.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.269;SOR=0.133	GT:AD:DP:GQ:PL	0/1:19,24:43:99:667,0,473	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:44,5:49:78:78,0,1826	3	0	16	0
chr22	23894887	23894887	C	T	exonic	MIF	.	nonsynonymous SNV	MIF:NM_002415:exon2:c.C224T:p.S75F	.	0	1512	8	2	0	12	0.00395257	.	.	.	3204905	MIF-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.0128166596525	0.0006	0.000399361	0.0032	0.0021	0.0039	0	0	0.0047	0.0074	0.0025	0.0006921	107	154602	rs182012324	0.0016	0.0015	0.0015	0.0016	0.0053	0.0015	0.0015	0.0038	0.0033	0.0003	0.0006	0.0005	0	0.0019	0.0053	0.0017	0.0010	0.0020	0.0013	0.0013	0.0013	0.0013	0.0020	0.0011	0.0011	0.0018	0.0016	0.0004	0	0.0005	0	0	0.0020	0.0034	0.0020	0.0014	0.0017	0.019	0.50132	D	0.045	0.49390	D	0.302	0.32608	B	0.091	0.29943	B	0.483326	0.12140	N	0.780131	0.999996	0.08975	N	2.195	0.61839	M	.	.	.	-3.05	0.62976	D	0.405	0.44570	-0.9856	0.33687	T	0.090	0.34655	T	9	0.016176522	0.00340	T	0.012817	0.31723	T	0.026	0.05648	.	.	0.380564188046	0.37663	0.4896539457470267	0.48885	1.08941836619	0.77391	0.646210491657	0.59447	T	0.759062	0.93459	D	-0.312453	0.07534	T	-0.227141	0.52049	T	0.0365827873708679	0.03083	T	0.886111	0.61235	D	0.29892302	0.52808	0.18277554	0.41226	0.29892302	0.52808	0.18277554	0.41225	-8.703	0.65765	D	.	.	0.202	0.42706	B	.	.	3.629203	0.51397	23.1	0.98603555641228913	0.43546	0.42073	0.26797	N	ALL	0.527731	0.54955	D	-0.353367447720328	0.27148	1.487204	-0.338778218081487	0.26859	1.486314	0.999999999999976	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.96	2.76	0.31527	0.658000	0.24662	3.676000	0.39452	0.537000	0.25018	0.001000	0.13787	0.727000	0.26391	0.995000	0.73285	0.1511:0.6297:0.1378:0.0814	5.354	0.15357	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	0	0	1	0	0.003627	0.000000	0.002786	0.015060	0.000000	0.000000	0.000000	0.000000	0.05263	2389.83	46	chr22	23894887	.	C	T	2389.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.723;DP=777;ExcessHet=0.119;FS=5.64;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.481;SOR=0.406	GT:AD:DP:GQ:PL	0/1:39,59:98:99:1692,0,1099	17	0	2	0
chr22	25028982	25028982	A	G	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon1:c.A983G:p.D328G	.	.	.	.	.	.	.	.	.	.	.	2371600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00858669725489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs957022850	0.0001	0.0001	8.842e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0018	0	3.111e-05	0	0	0	0.0002	4.67e-06	0.0002	0.0022	5.908e-05	5.905e-05	2.569e-05	9.398e-05	0.0017	3.074e-05	2.208e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0.0005	0.0017	0.146	0.25055	T	0.055	0.46862	T	0.0	0.02946	B	0.0	0.01387	B	0.881184	0.08754	N	0.936639	1	0.08975	N	0	0.06538	N	.	.	.	-0.46	0.14978	N	0.103	0.09349	-1.0147	0.25432	T	0.039	0.16763	T	9	0.037682503	0.02138	T	0.008587	0.22705	T	0.026	0.05648	0.272	0.22210	0.0884992946249	0.08302	0.03637571931965691	0.03584	.	.	0.280003815889	0.07493	T	0.001085	0.00603	T	-0.253807	0.13636	T	-0.602353	0.12615	T	0.049052061703752	0.05333	T	0.29697	0.05508	T	0.04848806	0.08459	0.049744163	0.07664	0.04848806	0.08459	0.049744163	0.07663	-2.784	0.08037	T	.	.	0.125	0.26451	B	.;.	.;.	0.852064	0.12243	8.786	0.96279421653658681	0.29276	0.14743	0.18563	N	AEFGBCI	0.067409	0.13251	N	-1.05958935445993	0.07400	0.3436824	-1.06927375356783	0.08310	0.4080439	0.997571901288008	0.35775	0.656854	0.48797	0	0.615948	0.52940	0	0.67347	0.61138	0	0.765956	0.99894	0	.	.	4.37	0.633	0.16883	0.838000	0.27225	0.362000	0.17587	0.662000	0.56354	0.003000	0.16062	0.000000	0.08366	0.027000	0.12703	0.3779:0.2986:0.1786:0.145	1.018	0.01416	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1710.33	96	chr22	25028982	.	A	G	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.155;DP=1008;ExcessHet=0;FS=3.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=-1.434;SOR=1.015	GT:AD:DP:GQ:PL	0/1:45,64:109:99:1724,0,1234	18	0	1	0
chr22	29263909	29263909	A	G	exonic	RHBDD3	.	nonsynonymous SNV	RHBDD3:NM_001329536:exon4:c.T458C:p.L153P,RHBDD3:NM_012265:exon4:c.T458C:p.L153P	.	418	1100	4	0	0	4	0.00181488	.	.	.	2391546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.626	0.122315316842	.	.	5.966e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs773246394	2.363e-05	2.257e-05	1.554e-05	3.193e-05	0.0003	1.685e-05	1.482e-05	0.0001	9.099e-05	0.0003	0	0.0003	0	0	0.0002	2.781e-06	0.0001	8.84e-05	6.573e-06	6.57e-06	0	1.346e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.001	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000029	0.55875	D	0.000000	1	0.81001	D	2.7	0.79018	M	1.31	0.35405	T	-6.01	0.89648	D	0.897	0.89689	-0.6631	0.62139	T	0.217	0.57954	T	10	0.8486854	0.84041	D	0.122315	0.80326	D	0.626	0.85563	0.684	0.82175	0.693726426155	0.69109	0.9097276053578468	0.90946	0.095489251604	0.10790	0.623664736748	0.56246	T	0.178833	0.52962	T	0.152523	0.69504	D	0.177615	0.81858	D	0.844752788543701	0.49720	D	0.694731	0.30590	T	0.93590915	0.94832	0.9085159	0.95583	0.93590915	0.94832	0.9085159	0.95583	-8.422	0.63911	D	.	.	0.590	0.68474	P	.;.	.;.	4.559823	0.71841	25.7	0.99827377230970271	0.90939	0.97937	0.78264	D	AEFDBCI	0.900840	0.84684	D	0.601700116184143	0.73281	5.940774	0.525843140525783	0.69733	5.402939	0.999999999834001	0.74766	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.2	5.2	0.71720	7.637000	0.82466	11.159000	0.87591	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.076000	0.17014	1.0:0.0:0.0:0.0	14.067	0.64357	483	0.77230	Peptidase S54, rhomboid domain;Peptidase S54, rhomboid 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	0.002105	0.000000	0.000000	0.000000	0.000000	0.009259	0.000000	0.011719	0.02632	1033.33	33	chr22	29263909	.	A	G	1033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.686;DP=703;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.884;SOR=0.576	GT:AD:DP:GQ:PL	0/1:37,39:76:99:1047,0,1107	18	0	1	0
chr22	33006425	33006425	G	A	exonic	SYN3	.	nonsynonymous SNV	SYN3:NM_133633:exon1:c.C238T:p.P80S,SYN3:NM_001135774:exon2:c.C238T:p.P80S,SYN3:NM_001369907:exon2:c.C238T:p.P80S,SYN3:NM_001369908:exon2:c.C238T:p.P80S,SYN3:NM_001369909:exon2:c.C238T:p.P80S,SYN3:NM_001369910:exon2:c.C238T:p.P80S,SYN3:NM_003490:exon2:c.C238T:p.P80S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00670025805713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215155919	4.104e-06	4.788e-06	0	8.25e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.534	0.11957	T	0.738	0.05018	T	0.0	0.02946	B	0.001	0.04355	B	0.001724	0.38161	N	0.174229	0.966855	0.38557	D	1.435	0.35949	L	1.64	0.27822	T	0.39	0.08495	N	0.097	0.07811	-1.0810	0.07156	T	0.045	0.19234	T	10	0.10419449	0.19196	T	0.007	0.17699	T	0.048	0.13305	0.269	0.21735	0.0934897674506	0.08844	0.19426971832423146	0.19344	0.192369905071	0.21563	0.310420542955	0.11971	T	0.05773	0.30648	T	-0.216838	0.18427	T	-0.549249	0.17397	T	0.454280972480774	0.30954	T	0.650035	0.26417	T	0.055820778	0.10899	0.076109305	0.16824	0.055820778	0.10899	0.076109305	0.16823	-3.266	0.13302	T	.	.	0.063	0.01555	B	.;.;.	.;.;.	2.215230	0.28262	17.74	0.91172224538697477	0.20427	0.86667	0.45996	D	AEFDBCI	0.756864	0.69600	D	-0.380575656411331	0.26162	1.425701	-0.190258307897902	0.31895	1.809274	0.999997822594177	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.21	4.19	0.48645	3.993000	0.56699	5.062000	0.47097	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0721:0.0:0.9279:0.0	14.339	0.66176	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	789.33	39	chr22	33006425	.	G	A	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.036;DP=727;ExcessHet=0;FS=7.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=3.07;SOR=1.638	GT:AD:DP:GQ:PL	0/1:39,29:68:99:803,0,1151	18	0	1	0
chr22	36141727	36141727	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G682A:p.A228T,APOL3:NM_014349:exon4:c.G469A:p.A157T,APOL3:NM_145639:exon4:c.G469A:p.A157T,APOL3:NM_145642:exon4:c.G82A:p.A28T,APOL3:NM_030644:exon5:c.G469A:p.A157T,APOL3:NM_145641:exon5:c.G82A:p.A28T	.	420	1018	81	3	0	87	0.0409797	.	.	.	705913	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0016	0.00479233	0.0070	0.0008	0.0023	0	0.0005	0.0038	0.0133	0.0327	0.0061254	947	154602	rs142057520	0.0045	0.0045	0.0036	0.0055	0.0304	0.0044	0.0044	0.0294	0.0290	0.0005	0.0032	0.0141	7.558e-05	0.0003	0.0213	0.0026	0.0063	0.0304	0.0032	0.0032	0.0029	0.0036	0.0284	0.0030	0.0029	0.0245	0.0231	0.0005	0.0066	0.0036	0.0092	0	0.0005	0.0238	0.0031	0.0071	0.0284	0.169	0.22920	T	0.417	0.14241	T	0.788	0.44546	P	0.397	0.44399	B	0.363263	0.13638	N	0.721939	1	0.08975	N	0.565	0.15224	N	3.77	0.03863	T	-1.02	0.46503	N	0.096	0.07673	-0.8850	0.49357	T	0.005	0.01725	T	10	0.0064413548	0.00146	T	.	.	.	0.074	0.21613	.	.	0.132336055621	0.12781	0.2831281995449334	0.28225	0.165414910226	0.18654	0.269489645958	0.06074	T	0.00967	0.08788	T	-0.61773	0.00114	T	-0.637106	0.09882	T	0.00338090782887009	0.00036	T	0.429857	0.18668	T	0.05087492	0.09258	0.053812385	0.09136	0.05087492	0.09257	0.053812385	0.09136	-5.036	0.42379	T	.	.	0.093	0.24396	B	.;.;.;.;.	.;.;.;.;.	-1.301766	0.00437	0.009	0.79448850851242914	0.12746	0.01032	0.03867	N	AEFDGBI	0.058757	0.11046	N	-1.11327166648079	0.06406	0.2947806	-1.19366562473892	0.06015	0.2882774	0.926062391168158	0.26838	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.635551	0.53088	0	.	.	4.3	-0.313	0.12121	-1.049000	0.03625	-15.654000	0.00347	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6561:0.0:0.3439	8.410	0.31799	507	0.75469	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019134	0.000000	0.013587	0.023392	0.050000	0.043103	0.024390	0.041667	0.02632	1902.33	133	chr22	36141727	.	C	T	1902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.587;DP=1080;ExcessHet=0;FS=6.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-1.079;SOR=0.952	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1916,0,1886	18	0	1	0
chr22	36199341	36199341	C	T	exonic	APOL4	.	nonsynonymous SNV	APOL4:NM_145660:exon3:c.G80A:p.G27E,APOL4:NM_030643:exon4:c.G71A:p.G24E	.	424	1082	16	0	0	16	0.00733945	.	.	.	2245414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00311930803976	0.0003	0.000998403	0.0006	0.0001	0	0	0	0.0007	0.0011	0.0010	0.0004851	75	154602	rs200978577	0.0004	0.0004	0.0004	0.0005	0.0061	0.0004	0.0004	0.0045	0.0039	0.0001	0.0002	0.0002	0	1.872e-05	0.0061	0.0004	0.0005	0.0012	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0003	0	0	0	0.0068	0.0005	0.0014	0.0017	0.0	0.91255	D	0.015	0.92824	D	0.999	0.77913	D	0.843	0.60313	P	0.274097	0.03790	N	2.202390	1	0.08975	N	.	.	.	3.94	0.72237	T	-0.26	0.96495	N	0.135	0.13198	-0.7458	0.58154	T	0.326	0.69427	T	9	0.011607587	0.00253	T	0.003119	0.06786	T	0.073	0.21317	.	.	0.432266382184	0.42845	0.12249909407249783	0.12176	0.100179550336	0.11320	.	.	.	0.005692	0.05139	T	-0.720524	0.00027	T	-0.843138	0.01052	T	0.0295116567229462	0.01915	T	0.348165	0.07698	T	0.038698386	0.05205	0.054456927	0.09369	0.038698386	0.05205	0.054456927	0.09368	-2.914	0.09284	T	.	.	0.099	0.31228	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.642736	0.01459	0.089	0.59419260392118001	0.06220	0.00922	0.03585	N	AEFDBHCI	0.082817	0.16773	N	-0.965365622503138	0.09350	0.442195	-1.25593071923756	0.05043	0.2394057	0.999999790205118	0.74766	0.554377	0.28877	0	0.573078	0.20572	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	1.78	-2.35	0.06302	-3.843000	0.00397	-4.862000	0.01952	-3.716000	0.00064	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3498:0.4768:0.1734	4.136	0.09640	525	0.74024	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1726.33	33	chr22	36199341	.	C	T	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.038;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-1.434;SOR=0.634	GT:AD:DP:GQ:PL	0/1:56,68:124:99:1740,0,1488	18	0	1	0
chr22	36265156	36265156	A	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.A266T:p.E89V,APOL1:NM_001362927:exon5:c.A266T:p.E89V,APOL1:NM_001136540:exon6:c.A320T:p.E107V,APOL1:NM_003661:exon6:c.A320T:p.E107V,APOL1:NM_145343:exon7:c.A368T:p.E123V	.	0	1513	9	0	0	9	0.0029654	.	.	.	1052133	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00270230265822	.	.	4.98e-05	0	0	0	0	4.527e-05	0	0.0002	3.88e-05	6	154602	rs780653482	2.121e-05	2.121e-05	1.361e-05	2.888e-05	0.0010	1.52e-05	1.324e-05	0.0005	0.0003	0	0	0	0	0	0.0010	7.194e-06	1.656e-05	0.0002	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.966	0.71341	D	0.039826	0.24126	N	0.423635	1	0.25743	N	2.305	0.65957	M	3.59	0.04544	T	-6.27	0.90648	D	0.15	0.21188	-1.1411	0.01318	T	0.040	0.17362	T	10	0.63143617	0.68539	D	0.002702	0.05550	T	0.063	0.18251	0.746	0.87738	0.572623985369	0.56930	0.3563416701615257	0.35548	0.385980496119	0.39890	0.401006579399	0.25209	T	0.052976	0.29314	T	-0.293915	0.09247	T	-0.423296	0.30697	T	0.709237813949585	0.41163	D	0.743426	0.36288	T	0.3042759	0.53285	0.271764	0.53080	0.3042759	0.53285	0.271764	0.53079	-6.948	0.57835	T	.	.	0.502	0.64740	A	.;.;.;.;.;.	.;.;.;.;.;.	2.902462	0.38477	20.7	0.98812826847654978	0.46655	0.49724	0.28499	N	AEFBI	0.203841	0.33032	N	0.0192535934745214	0.42730	2.580204	-0.220310951671899	0.30808	1.737902	0.94924029317975	0.27837	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	2.35	2.35	0.28166	1.869000	0.39156	7.039000	0.57330	0.560000	0.28382	0.375000	0.25965	0.876000	0.27648	0.004000	0.06068	1.0:0.0:0.0:0.0	6.685	0.22331	503	0.75780	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	888.33	67	chr22	36265156	.	A	T	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.228;DP=1209;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.982;SOR=0.456	GT:AD:DP:GQ:PL	0/1:48,32:80:99:902,0,1386	18	0	1	0
chr22	37713220	37713220	C	G	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon5:c.C265G:p.P89A	Deafness, autosomal recessive 28, Autosomal recessive	2	1490	30	0	0	30	0.00996678	.	.	.	176287	Autosomal_recessive_nonsyndromic_hearing_loss_28|not_specified|not_provided	MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00181085889568	0.0057	0.000798722	0.0049	0.0003	0.0040	0.0001	0.0002	0.0077	0.0037	0.0014	0.0042949	664	154602	rs199646135	0.0047	0.0047	0.0047	0.0047	0.0122	0.0046	0.0046	0.0099	0.0090	0.0004	0.0040	0.0119	0	0.0003	0.0122	0.0053	0.0053	0.0015	0.0038	0.0038	0.0043	0.0032	0.0061	0.0035	0.0034	0.0056	0.0054	0.0007	0	0.0041	0.0127	0	9.427e-05	0.0204	0.0061	0.0038	0.0010	0.041	0.41915	D	0.586	0.08332	T	0.02	0.18235	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.03	0.20959	T	-1.55	0.37566	N	0.139	0.13769	-1.0036	0.28874	T	0.021	0.08870	T	9	0.0034452677	0.00061	T	0.001811	0.03115	T	0.041	0.10877	.	.	0.211220785272	0.20719	0.06920054986088088	0.06858	0.121807995816	0.13726	0.390593290329	0.23754	T	0.039334	0.25154	T	-0.587355	0.00174	T	-0.613164	0.11729	T	0.00287286403046066	0.00030	T	0.431557	0.11736	T	0.032453425	0.03273	0.03632603	0.03057	0.030229906	0.02649	0.04387588	0.05557	-4.177	0.26417	T	.	.	0.064	0.01786	B	.;.	.;.	1.673009	0.21327	15.15	0.91957254829844126	0.21285	0.12367	0.17225	N	AEFDBI	0.039282	0.05682	N	-1.17101683122181	0.05442	0.2481506	-1.25903393729726	0.04998	0.2371601	0.00231855475340479	0.09317	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.604944	0.38103	0	.	.	1.94	-0.516	0.11354	0.411000	0.20836	-0.427000	0.09246	-0.234000	0.07639	0.001000	0.13787	0.000000	0.08366	0.009000	0.08673	0.2716:0.462:0.2664:0.0	4.03	0.09189	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014099	0.020202	0.009511	0.005848	0.100000	0.008621	0.039634	0.003788	0.02632	333.33	26	chr22	37713220	.	C	G	333.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.339;DP=511;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.323;SOR=0.412	GT:AD:DP:GQ:PL	0/1:18,14:32:99:347,0,468	18	0	1	0
chr22	41909797	41909797	T	C	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon4:c.A1162G:p.R388G,SHISA8:NM_001353438:exon4:c.A1447G:p.R483G,SHISA8:NM_001353439:exon4:c.A1339G:p.R447G	.	431	1053	37	1	0	39	0.0181818	.	.	.	2819613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	.	0.0168	0	0.0015	0.0004528	70	154602	rs756893043	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0166	0.0155	0.0012	0.0010	0.0166	0	0	0.0196	0.0007	0.0026	0.0011	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0010	0.0008	0.0003	0.0033	0.0010	0.0158	0	0	0.0204	0.0011	0.0028	0.0019	.	.	.	0.424	0.13953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.008136481	0.00185	T	.	.	.	.	.	.	.	0.631991100555	0.62898	0.1294892711660731	0.12873	.	.	0.441900193691	0.30837	T	.	.	.	-0.308221	0.07906	T	-0.271863	0.47630	T	.	.	.	0.50265	0.15781	T	0.33455953	0.55842	0.341038	0.59848	0.33455953	0.55842	0.341038	0.59848	-4.31	0.28316	T	.	.	0.108	0.20313	B	.	.	2.696450	0.35208	19.84	0.64420621177009363	0.07489	0.14849	0.18617	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999979861925652	0.50053	0.256391	0.04301	0	0.274575	0.05135	0	0.183864	0.04481	0	0.109499	0.03221	0	0.145135	0.27050	3.8	2.63	0.30420	1.037000	0.29850	1.412000	0.26289	0.659000	0.54702	0.775000	0.29414	0.999000	0.35428	0.889000	0.42754	0.2262:0.1233:0.0:0.6505	2.706	0.04843	131	0.94738	.	.	.	.	.	.	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	0.003559	0.020000	0.019231	0.017241	0.000000	0.000000	0.008065	0.000000	0.07895	3181.79	33	chr22	41909797	.	T	C	3181.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.098;DP=802;ExcessHet=0.3672;FS=1.588;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.711;SOR=0.833	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1288,0,1217	16	0	3	0
chr22	42086248	42086248	G	A	exonic	NDUFA6	.	nonsynonymous SNV	NDUFA6:NM_002490:exon3:c.C322T:p.H108Y	.	414	1070	37	1	0	39	0.0178981	.	.	.	215603	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	0.00650887435971	0.0036	0.00339457	0.0028	0.0074	0.0017	0	0	0.0034	0.0077	0.0008	0.0026261	406	154602	rs113437301	0.0017	0.0017	0.0017	0.0018	0.0199	0.0017	0.0016	0.0170	0.0159	0.0079	0.0021	0.0307	0	0	0.0199	0.0008	0.0046	0.0011	0.0037	0.0037	0.0038	0.0037	0.0073	0.0034	0.0033	0.0067	0.0064	0.0073	0.0033	0.0037	0.0288	0	0	0.0238	0.0011	0.0052	0.0019	.	.	.	0.115	0.36630	T	.	.	.	.	.	.	0.000001	0.62929	D	0.131299	0.999274	0.46519	D	.	.	.	.	.	.	.	.	.	0.179	0.23125	-0.7386	0.58524	T	0.220	0.58253	T	10	0.007718563	0.00175	T	0.006509	0.17157	T	0.182	0.45420	.	.	0.215869574891	0.21205	0.7120836117721743	0.71150	0.240868912627	0.26625	0.622457921505	0.56076	T	0.035167	0.23613	T	-0.316477	0.07190	T	-0.223508	0.52398	T	0.0155966509877632	0.00356	T	.	.	.	0.4964389	0.66885	0.66959906	0.80617	0.7058119	0.78377	0.63814104	0.78868	-6.719	0.51954	T	.	.	0.149	0.38263	B	.;.;.	.;.;.	3.598522	0.50813	23.0	0.99581292421025602	0.73040	0.93725	0.59013	D	AEFDBCIJ	0.748094	0.68995	D	0.270511061285913	0.54660	3.631111	0.44168999425464	0.64186	4.667936	0.999999466425253	0.74766	0.741895	0.98168	0	0.702456	0.74545	0	0.702456	0.68683	0	0.725737	0.93299	0	.	.	6.17	6.17	0.99707	5.603000	0.67304	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.474	0.99171	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.017120	0.015152	0.023098	0.040936	0.000000	0.008621	0.012195	0.003788	0.07895	2758.79	33	chr22	42086248	.	G	A	2758.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.31;DP=838;ExcessHet=0.3672;FS=0.945;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.191;SOR=0.616	GT:AD:DP:GQ:PL	0/1:41,31:72:99:851,0,1085	16	0	3	0
chr22	42141910	42141910	T	G	exonic	CYP2D7	.	unknown	UNKNOWN	.	1	1466	53	2	0	57	0.0190699	.	.	.	2819621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0063	0.0031	0.0011	0.0002	0.0045	0.0087	0.0159	0.0037322	577	154602	rs199515619	0.0022	0.0024	0.0022	0.0023	0.0202	0.0022	0.0022	0.0172	0.0161	0.0071	0.0027	0.0317	0.0068	0.0004	0.0202	0.0011	0.0046	0.0028	0.0036	0.0037	0.0035	0.0037	0.0059	0.0034	0.0033	0.0053	0.0050	0.0059	0.0033	0.0039	0.0306	0.0016	0.0005	0.0238	0.0013	0.0043	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.07895	3241.79	39	chr22	42141910	.	T	G	3241.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.51;DP=1499;ExcessHet=0.3672;FS=1.756;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=54.01;MQRankSum=-4.337;QD=8.96;ReadPosRankSum=1.57;SOR=0.599	GT:AD:DP:GQ:PL	0/1:61,36:97:99:880,0,1610	16	0	3	0
chr22	42214566	42214566	-	AGG	exonic	TCF20	.	nonframeshift insertion	TCF20:NM_001378418:exon2:c.739_740insCCT:p.F247delinsSF,TCF20:NM_005650:exon2:c.739_740insCCT:p.T249_R1961delinsSTLPSSAAGYQLRVGQFGQHYQSSASSSSSSSFPSPQRFSQSGQSYDGSYNVNAGSQYEGHNVGSNAQAYGTQSNYSYQPQSMKNFEQAKIPQGTQQGQQQQQPQQQQHPSQHVMQYTNAATKLPLQSQVGQYNQPEVPVRSPMQFHQNFSPISNPSPAASVVQSPSCSSTPSPLMQTGENLQCGQGSVPMGSRNRILQLMPQLSPTPSMMPSPNSHAAGFKGFGLEGVPEKRLTDPGLSSLSALSTQVANLPNTVQHMLLSDALTPQKKTSKRPSSSKKADSCTNSEGSSQPEEQLKSPMAESLDGGCSSSSEDQGERVRQLSGQSTSSDTTYKGGASEKAGSSPAQGAQNEPPRLNASPAAREEATSPGAKDMPLSSDGNPKVNEKTVGVIVSREAMTGRVEKPGGQDKGSQEDDPAATQRPPSNGGAKETSHASLPQPEPPGGGGSKGNKNGDNNSNHNGEGNGQSGHSAAGPGFTSRTEPSKSPGSLRYSYKDSFGSAVPRNVSGFPQYPTGQEKGDFTGHGERKGRNEKFPSLLQEVLQGYHHHPDRRYSRSTQEHQGMAGSLEGTTRPNVLVSQTNELASRGLLNKSIGSLLENPHWGPWERKSSSTAPEMKQINLTDYPIPRKFEIEPQSSAHEPGGSLSERRSVICDISPLRQIVRDPGAHSLGHMSADTRIGRNDRLNPTLSQSVILPGGLVSMETKLKSQSGQIKEEDFEQSKSQASFNNKKSGDHCHPPSIKHESYRGNASPGAATHDSLSDYGPQDSRPTPMRRVPGRVGGREGMRGRSPSQYHDFAEKLKMSPGRSRGPGGDPHHMNPHMTFSERANRSSLHTPFSPNSETLASAYHANTRAHAYGDPNAGLNSQLHYKRQMYQQQPEEYKDWSSGSAQGVIAAAQHRQEGPRKSPRQQQFLDRVRSPLKNDKDGMMYGPPVGTYHDPSAQEAGRCLMSSDGLPNKGMELKHGSQKLQESCWDLSRQTSPAKSSGPPGMSSQKRYGPPHETDGHGLAEATQSSKPGSVMLRLPGQEDHSSQNPLIMRRRVRSFISPIPSKRQSQDVKNSSTEDKGRLLHSSKEGADKAFNSYAHLSHSQDIKSIPKRDSSKDLPSPDSRNCPAVTLTSPAKTKILPPRKGRGLKLEAIVQKITSPNIRRSASSNSAEAGGDTVTLDDILSLKSGPPEGGSVAVQDADIEKRKGEVASDLVSPANQELHVEKPLPRSSEEWRGSVDDKVKTETHAETVTAGKEPPGAMTSTTSQKPGSNQGRPDGSLGGTAPLIFPDSKNVPPVGILAPEANPKAEEKENDTVTISPKQEGFPPKGYFPSGKKKGRPIGSVNKQKKQQQPPPPPPQPPQIPEGSADGEPKPKKQRQRRERRKPGAQPRKRKTKQAVPIVEPQEPEIKLKYATQPLDKTDAKNKSFYPYIHVVNKCELGAVCTIINAEEEEQTKLVRGRKGQRSLTPPPSSTESKALPASSFMLQGPVVTESSVMGHLVCCLCGKWASYRNMGDLFGPFYPQDYAATLPKNPPPKRATEMQSKVKVRHKSASNGSKTDTEEEEEQQQQQKEQRSLAAHPRFKRRHRSEDCGGGPRSLSRGLPCKKAATEGSSEKTVLDSKPSVPTTSEGGPELELQIPELPLDSNEFWVHEGCILWANGIYLVCGRLYGLQEALEIAREMKCSHCQEAGATLGCYNKGCSFRYHYPCAIDADCLLHEENFSVRCPKHKPPLPCPLPPLQNKTAKGSLSTEQSERG*,TCF20:NM_181492:exon2:c.739_740insCCT:p.F247delinsSF	.	.	.	.	.	.	.	.	.	.	.	1667275	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0003	9.641e-05	8.661e-05	0.0008	0.0002	0.0002	0	0.0005	0.0002135	33	154602	rs761310557	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0.0001	0	0.0003	3.751e-05	0.0005	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0001	0.0006	0.0001	0.0001	0.0002	0.0001	0.0002	0	0.0001	0	0.0006	0	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2269.29	38	chr22	42214566	.	A	AAGG	2269.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.701;DP=872;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.609;SOR=0.841	GT:AD:DP:GQ:PL	0/1:69,60:129:99:2283,0,2642	18	0	1	0
chr22	46308680	46308680	T	G	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon4:c.T499G:p.Y167D	.	405	1107	8	2	0	12	0.00539084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00874664029281	0.0005	0.000798722	0.0011	0	0.0002	0.0012	0	0.0011	0	0.0027	0.0008991	139	154602	rs141501144	0.0006	0.0006	0.0005	0.0007	0.0040	0.0005	0.0005	0.0027	0.0023	0	0.0001	0.0116	0.0005	0	0.0040	0.0002	0.0014	0.0027	0.0006	0.0006	0.0005	0.0007	0.0039	0.0005	0.0004	0.0026	0.0021	4.808e-05	0	6.531e-05	0.0098	0.0006	0	0	0.0004	0.0014	0.0039	0.057	0.37966	T	0.038	0.51421	D	.	.	.	.	.	.	0.022991	0.26527	N	0.473675	0.999997	0.08975	N	.	.	.	3.15	0.07820	T	-3.28	0.65627	D	0.469	0.50508	-1.0926	0.05112	T	0.035	0.15291	T	10	0.008064985	0.00183	T	0.008747	0.23099	T	0.089	0.25827	.	.	0.225215365344	0.22153	0.2669051910823298	0.26603	0.797457833787	0.66099	0.358056128025	0.19102	T	.	.	.	-0.458462	0.01005	T	-0.43469	0.29404	T	0.0774362998428014	0.09655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.59722	A	.	.	2.832516	0.37348	20.5	0.98364601840822086	0.40678	0.85753	0.44921	D	AEFBI	0.094496	0.19106	N	0.0564613336504584	0.44441	2.718042	-0.0415350150746126	0.37858	2.222449	0.896073092476226	0.25970	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.45	2.18	0.26813	2.495000	0.44997	2.267000	0.31803	0.665000	0.62972	0.997000	0.40164	0.995000	0.32472	0.852000	0.40310	0.0:0.215:0.0:0.785	8.968	0.35051	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	0.002518	0.000000	0.002717	0.000000	0.050000	0.000000	0.003049	0.000000	0.02632	1435.33	117	chr22	46308680	.	T	G	1435.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.882;DP=1017;ExcessHet=0;FS=7.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=1.1;SOR=1.342	GT:AD:DP:GQ:PL	0/1:76,61:137:99:1449,0,2050	18	0	1	0
chrX	6029361	6029361	C	T	exonic	NLGN4X	.	nonsynonymous SNV	NLGN4X:NM_001282146:exon3:c.G544A:p.G182S,NLGN4X:NM_020742:exon3:c.G544A:p.G182S,NLGN4X:NM_181332:exon3:c.G544A:p.G182S,NLGN4X:NM_001282145:exon4:c.G544A:p.G182S	Mental retardation, X-linked, Isolated cases, X-linked, Multifactorial	.	.	.	.	.	.	.	.	.	.	2430991	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.169073892004	.	.	0.0001	0	0	0	0	2.111e-05	0	0.0009	0.0001035	16	154602	rs754896196	7.565e-05	7.558e-05	5.037e-05	0.0001	0.0013	6.23e-05	5.729e-05	0.0011	0.0010	0	0	0	9.936e-05	0	0	5.944e-06	8.688e-05	0.0013	3.596e-05	3.483e-05	2.571e-05	5.982e-05	0.0011	1.14e-05	6.66e-06	0.0003	0.0002	0	0	0	0	0.0003	0	0	0	0	0.0011	0.002	0.72154	D	0.047	0.48855	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.315	0.32790	L	-0.18	0.65747	T	-4.63	0.79229	D	0.598	0.62273	-0.3386	0.73884	T	0.381	0.73759	T	9	0.6232454	0.68097	D	0.169074	0.84700	D	0.422	0.73078	0.65	0.78753	0.841812063645	0.84030	0.992424044413459	0.99238	2.1118641095	0.94940	0.846702218056	0.89115	D	0.599152	0.87128	D	-0.227173	0.17025	T	-0.177082	0.56792	T	0.802059054374695	0.46493	D	0.983302	0.94339	D	0.8270972	0.85702	0.6937988	0.81975	0.8270972	0.85703	0.6937988	0.81976	-7.754	0.59382	D	0.5334680930896096	0.60403	0.254	0.53425	B	.;.;.;.;.	.;.;.;.;.	2.987326	0.39869	21.1	0.99810603967559242	0.89442	0.95610	0.65411	D	AEFGI	.	.	.	.	.	.	.	.	.	0.99999999998036	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.01	4.01	0.45821	6.807000	0.74989	6.303000	0.55417	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:1.0:0.0:0.0	14.643	0.68345	1000	0.00083	Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B;.;Carboxylesterase, type B	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.05263	5136.81	37	chrX	6029361	.	C	T	5136.81	.	AC=2;AF=0.053;AN=38;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.11;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,160:160:99:5164,480,0	18	1	0	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	1243.64	146	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	1243.64	.	AC=9;AF=0.321;AN=28;BaseQRankSum=1.99;DP=1570;ExcessHet=0.0012;FS=7.718;InbreedingCoeff=0.3681;MLEAC=11;MLEAF=0.393;MQ=59.79;MQRankSum=0;QD=6.38;ReadPosRankSum=2.49;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,15:15:99:.:.:1675,127,0:.	9	4	1	5
chrX	27822288	27822288	G	A	exonic	MAGEB10	.	nonsynonymous SNV	MAGEB10:NM_182506:exon3:c.G982A:p.V328I	.	431	1057	19	15	0	49	0.0226537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0024	0.00741722	0.0064	0.0008	0.0008	0.0002	0.0046	0.0045	0.0174	0.0311	0.0060931	942	154602	rs146965052	0.0050	0.0050	0.0045	0.0062	0.0317	0.0049	0.0049	0.0304	0.0299	0.0006	0.0005	0.0050	6.622e-05	0.0052	0.0191	0.0037	0.0049	0.0317	0.0034	0.0035	0.0034	0.0034	0.0260	0.0031	0.0030	0.0211	0.0194	0.0006	0	0.0005	0.0057	0.0006	0.0051	0.0229	0.0043	0.0026	0.0260	0.572	0.06145	T	0.157	0.31730	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	4.7	0.01673	T	-0.36	0.13035	N	0.027	0.00571	-0.9027	0.47705	T	0.002	0.00676	T	9	0.002999872	0.00049	T	.	.	.	0.024	0.04979	.	.	0.043077524339	0.03247	0.30905830003244733	0.30818	0.274155545098	0.29911	0.38194924593	0.22533	T	0.003	0.01994	T	-0.97411	0.00000	T	-1.14902	0.00008	T	0.00272581046394871	0.00028	T	0.119788	0.00924	T	0.028556041	0.02212	0.043278653	0.05349	0.028556041	0.02211	0.043278653	0.05349	-4.851	0.35179	T	.	.	0.078	0.07697	B	.;.	.;.	-0.436274	0.02080	0.193	0.44550226678641525	0.03433	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	0.845199729666652	0.24940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.79	-3.16	0.04897	0.067000	0.14378	-0.627000	0.08144	-0.901000	0.02322	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2507:0.0:0.7493:0.0	11.516	0.49773	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.015862	0.000000	0.009276	0.011858	0.000000	0.047059	0.008850	0.047368	0.1053	2836.39	37	chrX	27822288	.	G	A	2836.39	.	AC=4;AF=0.105;AN=38;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.105;MQ=60;QD=32.98;SOR=1.637	GT:AD:DP:GQ:PL	1/1:0,51:51:99:1645,153,0	17	2	0	0
chrX	38220750	38220752	GCA	-	exonic	SRPX	.	nonframeshift deletion	SRPX:NM_001170750:exon1:c.41_43del:p.L14del,SRPX:NM_001170751:exon1:c.41_43del:p.L14del,SRPX:NM_001170752:exon1:c.41_43del:p.L14del,SRPX:NM_006307:exon1:c.41_43del:p.L14del	.	412	1100	9	0	1	10	0.00407424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0341	.	0.0017	0.0009	0.0011	0	0	0.0019	0	0.0027	3.84e-05	1	26028	rs749344698	0.0002	0.0046	0.0002	6.224e-06	0.0008	0.0001	0.0001	0.0005	0.0004	0.0006	0.0008	0.0003	0.0007	0.0005	0.0003	0.0001	0.0001	0.0001	8.858e-06	4.353e-05	1.285e-05	0	1.88e-05	0	0	.	.	0	0	0	0	0	0	0	1.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063797	0.118110	0.053785	0.070833	0.153846	0.026316	0.055838	0.050847	0.02632	46.29	39	chrX	38220749	.	GGCA	G	46.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.151;DP=758;ExcessHet=0;FS=1.954;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.624;SOR=1.473	GT:AD:DP:GQ:PL	0/1:50,5:55:60:60,0,2016	18	0	1	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S,GAGE13:NM_001098412:exon2:c.A39T:p.R13S,GAGE2E:NM_001127200:exon2:c.A39T:p.R13S,GAGE8:NM_012196:exon2:c.A39T:p.R13S	.	548	918	55	1	0	57	0.0301109	.	.	.	3977508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	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	1	0	0.034783	0.047619	0.007092	0.026316	0.000000	0.000000	0.106383	0.062500	0.05882	141.51	23	chrX	49332776	.	A	T	141.51	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.383;DP=239;ExcessHet=0.1259;FS=19.26;InbreedingCoeff=-0.0903;MLEAC=2;MLEAF=0.059;MQ=28.2;MQRankSum=0.196;QD=8.84;ReadPosRankSum=1.38;SOR=0.006	GT:AD:DP:GQ:PL	0/1:5,7:12:99:124,0,176	15	0	2	2
chrX	49333378	49333379	GA	-	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	frameshift deletion	GAGE2D:NM_001098407:exon3:c.176_177del:p.E60Gfs*2,GAGE13:NM_001098412:exon3:c.176_177del:p.E60Gfs*2,GAGE2E:NM_001127200:exon3:c.176_177del:p.E60Gfs*2,GAGE8:NM_012196:exon3:c.176_177del:p.E60Gfs*2	.	569	946	7	0	0	7	0.00368615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311459711	0.0022	0.0049	0.0030	9.085e-06	0.0139	0.0021	0.0021	0.0128	0.0123	0.0002	0.0139	0.0005	0.0010	0.0017	0.0008	0.0020	0.0026	0.0013	0.0025	0.0051	0.0034	0	0.0094	0.0023	0.0022	0.0078	0.0071	0.0003	0	0.0094	0	0.0006	0.0014	0	0.0032	0.0023	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	385.29	33	chrX	49333377	.	GGA	G	385.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.047;DP=680;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=21.59;MQRankSum=0.599;QD=12.84;ReadPosRankSum=-1.938;SOR=0.954	GT:AD:DP:GQ:PL	0/1:19,11:30:99:399,0,751	18	0	1	0
chrX	52645516	52645516	G	A	exonic	SSX7	.	nonsynonymous SNV	SSX7:NM_173358:exon7:c.C494T:p.T165I	.	576	944	2	0	0	2	0.0010582	.	.	.	743392	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	.	0.0015894	0.0013	0	0	0	0	2.213e-05	0	0.0137	0.0012742	197	154602	rs200360993	0.0007	0.0007	0.0005	0.0011	0.0126	0.0006	0.0006	0.0118	0.0115	3.812e-05	0.0001	0	3.318e-05	0	0.0003	2.384e-06	0.0007	0.0126	0.0003	0.0003	0.0002	0.0004	0.0114	0.0002	0.0002	0.0080	0.0068	0	0	0.0001	0	0	0	0	0	0.0007	0.0114	0.016	0.51853	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.755552	0.09665	N	0.876709	1	0.08975	N	1.39	0.34934	L	3.08	0.08460	T	-2.67	0.57110	D	0.109	0.09490	-1.0125	0.26133	T	0.040	0.17362	T	9	0.0044635236	0.00092	T	.	.	.	0.037	0.09474	0.411	0.44723	0.15556083564	0.15200	0.02881544894136963	0.02831	0.0833042759412	0.09392	.	.	.	0.012097	0.10690	T	-0.739551	0.00021	T	-0.824703	0.01360	T	0.0479385093378901	0.05133	T	0.647535	0.25853	T	0.2246787	0.45114	0.15986992	0.37263	0.2246787	0.45114	0.15986992	0.37262	-6.654	0.51463	T	.	.	0.307	0.53518	B	.	.	1.027315	0.14072	10.64	0.9959945065165291	0.74101	0.00395	0.01981	N	AEFI	.	.	.	.	.	.	.	.	.	1.97395819386176E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.541	0.16359	-0.155000	0.10101	-6.416000	0.01404	0.337000	0.19705	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	.	.	.	484	0.77165	SSXRD motif	.	.	.	.	.	Likely benign	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	1	0	0.003342	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.023952	0.05263	892.81	39	chrX	52645516	.	G	A	892.81	.	AC=2;AF=0.053;AN=38;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=36.46;QD=33.07;SOR=1.528	GT:AD:DP:GQ:PL	1/1:0,27:27:81:920,81,0	18	1	0	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	1/1:38,390:428:99:12668,102,0	0	4	15	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	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:335,79:414:99:1244,0,10342	5	0	12	2
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	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:298,80:378:99:.:.:1459,0,9351:.	5	0	14	0
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	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:251,62:313:99:.:.:1203,0,8167:.	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:45,235:280:99:7952,0,572	0	0	19	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	10743.0	426	chrX	55146242	.	C	T	10743.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=1.85;DP=7675;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.553;SOR=0.701	GT:AD:DP:GQ:PL	0/1:142,60:202:99:1341,0,4970	8	0	10	1
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	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,26:194:99:0|1:55146247_G_C:542,0,6807:55146247	5	0	14	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,26:187:99:0|1:55146247_G_C:562,0,6664:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:68,108:176:99:3175,0,2334	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,23:175:99:0|1:55146247_G_C:498,0,6306:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:44,92:136:99:2897,0,1412	0	0	19	0
chrX	57908143	57908143	T	C	exonic	ZXDA	.	nonsynonymous SNV	ZXDA:NM_007156:exon1:c.A2278G:p.N760D	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0027	0.00370861	0.0018	0.0061	0.0032	0.0003	0.0002	0.0012	0.0111	0.0008	0.0017788	275	154602	rs143148165	0.0012	0.0012	0.0012	0.0012	0.0059	0.0012	0.0011	0.0051	0.0048	0.0059	0.0029	0.0004	0.0001	0.0001	0.0051	0.0010	0.0027	0.0008	0.0027	0.0029	0.0029	0.0023	0.0057	0.0025	0.0024	0.0049	0.0046	0.0056	0	0.0057	0.0004	0	0	0.0046	0.0011	0.0026	0.0011	0.889	0.02489	T	0.872	0.03296	T	0.0	0.02946	B	0.0	0.01387	B	0.175225	0.17257	N	0.620177	0.999995	0.08975	N	-1.24	0.00794	N	2.95	0.09635	T	0.27	0.04306	N	0.007	0.00055	-0.9428	0.42169	T	0.007	0.02360	T	9	0.0030308068	0.00050	T	.	.	.	0.012	0.01476	.	.	0.424549175451	0.42073	0.025932730755096393	0.02544	0.715879773822	0.61972	0.516119897366	0.41080	T	0.009376	0.08542	T	-0.920288	0.00000	T	-1.09126	0.00033	T	0.000944584059427668	0.00009	T	0.0853915	0.00627	T	0.05783886	0.11560	0.058664422	0.10878	0.05783886	0.11559	0.058664422	0.10877	-3.321	0.14010	T	.	.	0.051	0.00172	B	.	.	0.513141	0.08821	5.598	0.2114993595545577	0.00793	0.02320	0.06650	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999890762008973	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.88	1.03	0.19161	0.339000	0.19617	1.020000	0.23398	-0.217000	0.08171	0.083000	0.22414	0.000000	0.08366	0.927000	0.46353	0.0:0.4807:0.232:0.2874	3.021	0.05708	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011765	0.040816	0.016698	0.003953	0.000000	0.011765	0.000000	0.000000	0.05263	3872.81	33	chrX	57908143	.	T	C	3872.81	.	AC=2;AF=0.053;AN=38;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=56.98;QD=32.27;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3900,360,0	18	1	0	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.1842	3092.38	36	chrX	74591904	.	A	G	3092.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.755;DP=1934;ExcessHet=2.9153;FS=4.408;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.76;MQRankSum=-11.41;QD=2.06;ReadPosRankSum=3.45;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,17:150:99:0|1:74591902_T_A:313,0,5533:74591902	12	0	7	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.07895	1192.79	36	chrX	74591957	.	C	T	1192.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.316;DP=1805;ExcessHet=0.3672;FS=5.198;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.13;MQRankSum=-13.17;QD=1.86;ReadPosRankSum=-2.357;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,13:172:68:0|1:74591902_T_A:68,0,6595:74591902	16	0	3	0
chrX	139617575	139617575	C	T	exonic	MCF2	.	nonsynonymous SNV	MCF2:NM_001171877:exon7:c.G820A:p.E274K,MCF2:NM_001171878:exon8:c.G937A:p.E313K,MCF2:NM_001171879:exon8:c.G937A:p.E313K,MCF2:NM_005369:exon8:c.G937A:p.E313K,MCF2:NM_001099855:exon11:c.G1117A:p.E373K,MCF2:NM_001171876:exon11:c.G1117A:p.E373K	.	12	1507	1	2	0	5	0.00165618	.	.	.	729436	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.166	0.0586838976067	0.0013	0.000529801	0.0011	0	0.0011	0	0.0055	0.0011	0.0032	0.0008	0.0011061	171	154602	rs61752695	0.0011	0.0011	0.0010	0.0011	0.0018	0.0010	0.0010	0.0014	0.0013	0.0002	0.0018	5.212e-05	0	0.0031	0.0015	0.0010	0.0012	0.0007	0.0012	0.0013	0.0011	0.0014	0.0024	0.0010	0.0010	0.0017	0.0014	0.0002	0	0.0024	0	0	0.0051	0	0.0014	0.0007	0	0.021	0.49613	D	0.277	0.24334	T	0.269	0.56581	B	0.155	0.63417	B	0.000000	0.84330	D	0.047548	0.972702	0.39583	D	2.98	0.85499	M	0.83	0.47815	T	-2.76	0.59226	D	0.35	0.40565	-0.6356	0.63333	T	0.286	0.65744	T	10	0.009541601	0.00215	T	0.058684	0.67403	D	0.166	0.42578	.	.	0.757902743755	0.75570	0.32824406393362493	0.32737	0.94921304042	0.72548	0.580877304077	0.50209	T	0.309735	0.68174	T	-0.245743	0.14624	T	-0.133033	0.60715	T	0.109637627431048	0.13386	T	0.961404	0.85511	D	0.77102333	0.82109	0.5801736	0.75667	0.77102333	0.82111	0.5801736	0.75668	-5.182	0.45579	T	.	.	0.217	0.46401	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.592142	0.50690	23.0	0.99921529298214851	0.98787	0.98858	0.87789	D	AEFI	.	.	.	.	.	.	.	.	.	0.999992739989848	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.98	5.98	0.97147	2.358000	0.43788	4.847000	0.45339	0.549000	0.26987	0.974000	0.34632	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.196	0.89754	974	0.05496	.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.003448	0.013605	0.001855	0.003968	0.000000	0.000000	0.004425	0.000000	0.05263	1319.81	34	chrX	139617575	.	C	T	1319.81	.	AC=2;AF=0.053;AN=38;DP=673;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.19;SOR=0.741	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1347,123,0	18	1	0	0
chrX	141905074	141905074	T	C	exonic	MAGEC1	.	startloss	MAGEC1:NM_005462:exon3:c.T2C:p.M1?	.	431	1089	1	1	0	3	0.00137552	0	0.002	.	1671782	not_provided|Decreased_total_neutrophil_count|Decreased_total_lymphocyte_count	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.127	0.000710714109778	0.0038	0.000794702	0.0029	0.0005	0.0008	0	0.0079	0.0040	0.0048	0.0010	0.0028525	441	154602	rs113574601	0.0040	0.0040	0.0041	0.0038	0.0045	0.0039	0.0039	0.0044	0.0043	0.0003	0.0014	0.0001	0	0.0087	0.0017	0.0045	0.0038	0.0012	0.0031	0.0032	0.0031	0.0032	0.0047	0.0029	0.0028	0.0042	0.0041	0.0007	0	0.0017	0	0	0.0090	0.0046	0.0047	0.0019	0.0007	0.0	0.91255	D	0.076	0.42614	T	0.462	0.36386	P	0.227	0.38084	B	.	.	.	.	1	0.20820	N	.	.	.	4.28	0.02487	T	-0.14	0.09135	N	0.11	0.09631	-1.0251	0.22050	T	0.018	0.07659	T	8	0.008170396	0.00185	T	7.11E-4	0.00454	T	0.127	0.34888	.	.	0.167679373172	0.16340	0.08129366640104177	0.08064	.	.	.	.	.	0.003176	0.02576	T	-0.610638	0.00125	T	-0.646469	0.09203	T	0.0159953456163765	0.00381	T	0.9	0.65058	D	0.67998093	0.76968	0.45140204	0.68081	0.67998093	0.76969	0.45140204	0.68081	-8.005	0.61105	D	.	.	.	.	.	.	.	0.192715	0.05785	2.228	0.3678234165998856	0.02386	0.01059	0.03935	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.373331475002743	0.19891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.873	-1.75	0.07598	-1.452000	0.02492	.	.	0.287000	0.18726	0.004000	0.16614	0.000000	0.08366	0.142000	0.20019	0.5647:0.0:0.0:0.4353	3.631	0.07672	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.002063	0.000000	0.000000	0.011858	0.000000	0.000000	0.000000	0.000000	0.05263	1846.81	37	chrX	141905074	.	T	C	1846.81	.	AC=2;AF=0.053;AN=38;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.3;SOR=1.532	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1874,177,0	18	1	0	0
chrX	153982094	153982094	-	CGTGGC	exonic	TMEM187	.	nonframeshift insertion	TMEM187:NM_003492:exon2:c.32_33insCGTGGC:p.A15_G16insVA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0003	0	0	0	0	0.0004	0.0016	0.0004	.	.	.	rs781986712	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0	2.841e-05	0	0	7.426e-05	0.0005	0.0002	0.0002	0.0004	0.0001	0.0002	0.0002	8.385e-05	0.0003	9.491e-05	7.825e-05	0.0002	0.0002	0	0	0	0	0	0	0	0.0003	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2277.77	33	chrX	153982094	.	A	ACGTGGC	2277.77	.	AC=2;AF=0.053;AN=38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.93;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,52:52:99:2305,156,0	18	1	0	0
chrY	9467257	9467257	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G257A:p.R86Q,TSPY1:NM_003308:exon1:c.G257A:p.R86Q	.	1147	333	32	10	0	52	0.0724234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	.	0.1667	.	.	0	.	.	.	0.2	3.84e-05	1	26028	rs777840135	0.0001	0.0005	.	0.0001	0.0011	9.158e-05	8.115e-05	0.0007	0.0006	0	0	0	0	0.0001	0	6.671e-05	8.002e-05	0.0011	3.003e-05	0.0002	.	3.003e-05	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	0.413	0.10052	T	0.586	0.15059	T	0.942	0.58077	P	0.102	0.43842	B	.	.	.	.	.	.	.	1.24	0.30952	L	1.55	0.29866	T	0.29	0.04161	N	0.051	0.04790	-1.0424	0.16592	T	0.020	0.08500	T	5	0.0024063885	0.00036	T	.	.	.	0.052	0.14661	.	.	0.15556083564	0.15200	0.056038622022919246	0.05544	.	.	.	.	.	0.009498	0.08644	T	-0.450626	0.01120	T	-0.885069	0.00613	T	0.039082858610258	0.03525	T	0.458954	0.13262	T	0.09309585	0.21857	0.15247531	0.35872	0.09309585	0.21857	0.15247531	0.35871	-3.152	0.11903	T	.	.	0.072	0.09578	B	.;.	.;.	0.182618	0.05701	2.146	0.81828080224814892	0.13880	0.00167	0.00991	N	AEF	.	.	.	.	.	.	.	.	.	1.11426519872457E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.090000	0.11129	.	.	0.221000	0.18078	0.946000	0.32893	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1206.54	.	chrY	9467257	.	G	A	1206.54	.	AC=3;AF=0.167;AN=18;BaseQRankSum=1.66;DP=159;ExcessHet=0.8432;FS=2.407;MLEAC=5;MLEAF=0.278;MQ=34.27;MQRankSum=-0.869;QD=16.09;ReadPosRankSum=-0.261;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,14:21:99:0|1:9467242_A_G:407,0,145:9467242	6	0	3	10