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	NSWES636	WT	HH	HZ	NC
chr1	942150	942150	C	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon9:c.C1376T:p.P459L,SAMD11:NM_001385641:exon9:c.C1373T:p.P458L,SAMD11:NM_152486:exon9:c.C884T:p.P295L	.	.	.	.	.	.	.	.	.	.	.	2001305	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.946660111203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331902306	1.651e-06	2.749e-05	1.641e-06	1.662e-06	1.048e-06	2.8e-07	1e-07	.	.	0	0	0	0	2.944e-05	0	1.048e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.471	0.36552	P	0.047	0.24832	B	0.000004	0.62929	U	0.000000	1	0.81001	D	2.475	0.71894	M	.	.	.	-4.56	0.78636	D	0.708	0.71143	-0.6701	0.61824	T	0.251	0.62039	T	9	0.5718491	0.65363	D	0.94666	0.99629	D	0.121	0.33580	0.144	0.04746	0.475352637851	0.47162	0.32240338262877094	0.32153	0.0302674356844	0.03124	0.832917332649	0.87010	D	0.191795	0.58887	T	0.0250785	0.55063	T	-0.201753	0.54480	T	0.993840038776398	0.84805	D	0.961304	0.85476	D	0.5535883	0.70155	0.56628466	0.74895	0.5535883	0.70156	0.56628466	0.74896	-7.59	0.58241	D	.	.	0.141	0.38372	B	.;.;.	.;.;.	5.107199	0.85365	28.6	0.99685401395383266	0.79574	0.35395	0.25292	N	ALL	0.297692	0.40720	N	-0.0619979157783452	0.39068	2.298042	-0.120639258027854	0.34558	1.989271	0.999999998829288	0.74766	0.59774	0.34471	0	0.491552	0.07993	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.04	2.07	0.26004	3.302000	0.51557	.	.	0.426000	0.20854	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.8866:0.0:0.1134	10.104	0.41695	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	249.84	14	chr1	942150	.	C	T	249.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.708;DP=97;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.67;SOR=1.27	GT:AD:DP:GQ:PL	0/1:10,11:21:99:260,0,208	5	0	1	0
chr1	970920	970920	G	A	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon6:c.G526A:p.A176T,PLEKHN1:NM_001367552:exon6:c.G526A:p.A176T,PLEKHN1:NM_032129:exon6:c.G526A:p.A176T	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0169038807728	0.0005	0.000798722	0.0007	0.0001	0.0006	0	0	0.0012	0.0014	0.0002	0.0006468	100	154602	rs199938541	0.0007	0.0007	0.0007	0.0007	0.0188	0.0007	0.0007	0.0159	0.0148	0.0007	0.0012	7.667e-05	0	1.98e-05	0.0188	0.0007	0.0014	0.0004	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0006	0.0002	0	0.0012	0	0	0	0.0238	0.0008	0.0033	0.0002	0.243	0.17526	T	0.806	0.05221	T	0.129	0.27048	B	0.067	0.27542	B	0.128468	0.18730	N	0.498778	0.536152	0.32015	D	0.755	0.19153	N	1.0	0.44461	T	-1.1	0.30762	N	0.197	0.24260	-1.0257	0.21853	T	0.034	0.14552	T	10	0.015224665	0.00320	T	0.016904	0.38370	T	0.051	0.14325	.	.	0.242244723065	0.23846	0.1349724151031562	0.13421	0.0105160160037	0.00971	0.466817080975	0.34245	T	.	.	.	-0.593498	0.00160	T	-0.665828	0.07878	T	0.0144888740961386	0.00295	T	0.683132	0.29593	T	0.04105313	0.05974	0.06637987	0.13589	0.04105313	0.05974	0.06637987	0.13588	-5.319	0.41747	T	.	.	0.085	0.19276	B	.;.;.	.;.;.	1.119071	0.15045	11.54	0.96769552290205041	0.31031	0.27265	0.23228	N	AEFBI	0.153733	0.27865	N	-0.791868961356908	0.13520	0.6666728	-0.681748089465661	0.17417	0.9260341	0.977363334278084	0.29814	0.554377	0.28877	0	0.588066	0.40923	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	4.74	3.83	0.43287	-0.182000	0.09720	.	.	0.665000	0.62972	0.000000	0.06391	0.216000	0.23679	0.022000	0.11911	0.0961:0.179:0.7248:0.0	6.702	0.22419	906	0.23090	Pleckstrin homology domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016129	0.015306	0.020436	0.032544	0.000000	0.008621	0.009146	0.000000	0.08333	535.83	33	chr1	970920	.	G	A	535.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.824;DP=218;ExcessHet=0;FS=5.138;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=0.58;SOR=0.378	GT:AD:DP:GQ:PL	0/1:16,19:35:99:546,0,459	5	0	1	0
chr1	1457167	1457167	G	A	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon8:c.G728A:p.R243Q	.	424	1091	6	1	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.0232771003864	0.0002	.	0.0001	0.0002	8.646e-05	0	0	0.0001	0	0.0004	0.00011	17	154602	rs375870663	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	8.961e-05	8.945e-05	0	2.519e-05	0	0.0003	0.0005	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	9.659e-05	0	0	0	0	0	0	0.0003	0.0005	0.0002	0.142	0.25457	T	0.183	0.29153	T	0.811	0.45403	P	0.358	0.43079	B	0.000000	0.84330	D	0.049780	0.99947	0.47197	D	1.555	0.39373	L	-3.18	0.93111	D	-3.46	0.67705	D	0.616	0.63204	0.161	0.85244	D	0.703	0.89761	D	10	0.5079043	0.61926	D	0.023277	0.46232	T	0.420	0.72930	.	.	0.889129095286	0.88803	0.19458471696654517	0.19376	0.0383716600576	0.04084	0.737088739872	0.72544	T	0.303705	0.67604	T	-0.135868	0.30548	T	-0.140793	0.60049	T	0.126687534869073	0.15073	T	0.909209	0.67884	D	0.3294789	0.55428	0.18205051	0.41106	0.3294789	0.55428	0.18205051	0.41106	-9.779	0.72577	D	.	.	0.085	0.09965	B	.	.	4.198855	0.63341	24.6	0.9841948681184679	0.41266	0.95912	0.66691	D	AEFBI	0.485047	0.52480	N	-0.39955595020491	0.25484	1.383773	-0.51080894084495	0.21859	1.184542	0.046663249300358	0.14699	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.52	1.58	0.22557	8.777000	0.91421	5.704000	0.49392	0.471000	0.21939	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.7873:0.2127	9.502	0.38189	862	0.33134	ATPase, AAA-type, core|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1592.83	40	chr1	1457167	.	G	A	1592.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.33;DP=307;ExcessHet=0;FS=0.674;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.633;SOR=0.629	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1603,0,1265	5	0	1	0
chr1	2502827	2502827	C	T	exonic	PLCH2	.	nonsynonymous SNV	PLCH2:NM_001303012:exon21:c.C3296T:p.P1099L	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0234288247771	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767690024	2.302e-05	2.067e-05	1.923e-05	2.625e-05	0.0007	1.284e-05	9.89e-06	0.0002	0.0001	0	0	0	0	2.098e-05	0.0007	2.208e-05	6.518e-05	0	2.629e-05	2.627e-05	3.854e-05	1.346e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.649	0.04864	T	0.337	0.18178	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	0.656762	0.33014	D	.	.	.	2.14	0.19450	T	0.0	0.07008	N	0.123	0.11483	-0.9970	0.30755	T	0.028	0.12014	T	8	0.042176396	0.02942	T	0.023429	0.46390	T	0.012	0.01476	0.313	0.28774	0.398872588132	0.39498	.	.	0.220778280987	0.24628	.	.	.	.	.	.	-0.401019	0.02280	T	-0.698858	0.05888	T	0.0175592929253523	0.00490	T	.	.	.	.	.	.	.	.	.	.	.	-2.785	0.08046	T	.	.	0.095	0.14797	B	.	.	2.341816	0.30010	18.30	0.42186066367985836	0.03093	0.19586	0.20718	N	AEFDBCI	0.079977	0.16163	N	-0.646953456632857	0.17549	0.9039694	-0.614731343520293	0.19114	1.02415	0.333814746411767	0.19513	0.679555	0.55442	0	0.514364	0.08380	0	0.600882	0.32295	2	0.604944	0.38103	0	.	.	4.08	-0.133	0.12827	0.625000	0.24171	1.190000	0.24759	0.535000	0.24933	0.969000	0.34210	0.542000	0.25421	0.619000	0.31870	0.2186:0.492:0.0:0.2894	4.529	0.11402	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	544.83	36	chr1	2502827	.	C	T	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.797;SOR=0.833	GT:AD:DP:GQ:PL	0/1:30,22:52:99:555,0,779	5	0	1	0
chr1	3463266	3463266	G	A	exonic	ARHGEF16	.	nonsynonymous SNV	ARHGEF16:NM_014448:exon2:c.G182A:p.R61Q	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0077	0.00539137	0.0089	0.0179	0.0032	0	0.0536	0.0076	0.0118	0.0085	0.0019534	302	154602	rs183210126	0.0061	0.0058	0.0060	0.0062	0.0133	0.0060	0.0059	0.0123	0.0119	0.0133	0.0031	0.0080	0.0002	0.0114	0.0033	0.0057	0.0056	0.0086	0.0077	0.0077	0.0078	0.0075	0.0118	0.0073	0.0071	0.0110	0.0106	0.0118	0.0143	0.0037	0.0055	0	0.0121	0.0102	0.0057	0.0090	0.0091	0.284	0.15303	T	0.233	0.24913	T	0.117	0.26519	B	0.015	0.17295	B	0.000448	0.00607	U	11.129800	1	0.08975	N	0.895	0.22405	L	1.52	0.30669	T	0.4	0.03463	N	0.163	0.17140	-1.0675	0.09971	T	0.024	0.10194	T	10	0.0031102598	0.00052	T	.	.	.	0.017	0.02790	.	.	0.166414681773	0.16258	0.1614807613277844	0.16069	0.267356887122	0.29277	0.43732625246	0.30212	T	0.020221	0.15960	T	-0.66223	0.00061	T	-0.71105	0.05242	T	0.00490508218436153	0.00053	T	0.40026	0.10182	T	0.021309964	0.00727	0.025411656	0.00584	0.021309964	0.00726	0.025411656	0.00584	-2.815	0.08322	T	.	.	0.066	0.02200	B	.	.	0.045699	0.04605	1.276	0.98187500030910935	0.39001	0.05142	0.10952	N	AEFBI	0.125744	0.24238	N	-1.20472109155274	0.04930	0.2235891	-1.32168892620996	0.04151	0.1951726	0.103678025001434	0.16453	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	0.235	0.235	0.14697	-0.568000	0.06000	-2.114000	0.04192	-0.574000	0.04772	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5879:0.4121:0.0	5.180	0.14481	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	0.003883	0.011111	0.000000	0.000000	0.000000	0.000000	0.009901	0.000000	0.08333	742.83	33	chr1	3463266	.	G	A	742.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.734;DP=234;ExcessHet=0;FS=2.146;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.395;SOR=0.399	GT:AD:DP:GQ:PL	0/1:32,30:62:99:753,0,759	5	0	1	0
chr1	8335458	8335458	G	A	exonic	SLC45A1	.	nonsynonymous SNV	SLC45A1:NM_001379617:exon4:c.G859A:p.G287S,SLC45A1:NM_001379618:exon4:c.G859A:p.G287S,SLC45A1:NM_001379615:exon5:c.G1372A:p.G458S,SLC45A1:NM_001379616:exon5:c.G1372A:p.G458S,SLC45A1:NM_001080397:exon6:c.G1465A:p.G489S,SLC45A1:NM_001379614:exon6:c.G1465A:p.G489S	.	.	.	.	.	.	.	.	.	.	.	4075348	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.245	0.0170035387473	7.7e-05	.	8.679e-05	0	8.723e-05	0	0	3.1e-05	0	0.0005	6.47e-05	10	154602	rs142493927	6.231e-05	6.225e-05	3.859e-05	8.625e-05	0.0005	5.156e-05	4.772e-05	0.0004	0.0004	0	4.538e-05	0	2.525e-05	4.966e-05	0	3.244e-05	8.315e-05	0.0005	3.943e-05	3.94e-05	0	8.071e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.268	0.16144	T	0.013	0.63109	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.72	0.26588	T	-0.74	0.20791	N	0.862	0.86297	-1.0301	0.20422	T	0.136	0.45126	T	10	0.52161765	0.62675	D	0.017004	0.38515	T	0.245	0.55201	.	.	0.705106200057	0.70254	0.7231041437510916	0.72254	0.596916655159	0.54907	0.818932414055	0.84865	D	.	.	.	-0.159358	0.26859	T	-0.101384	0.63292	T	0.187473401427269	0.19694	T	0.944506	0.78979	D	0.14450985	0.33167	0.14940271	0.35278	0.16796301	0.37225	0.13986348	0.33356	-4.938	0.36159	T	.	.	0.508	0.66691	A	.;.	.;.	4.164767	0.62574	24.5	0.99859324612349232	0.93820	0.98784	0.86809	D	AEFDBI	0.887586	0.81996	D	0.543607806444412	0.69695	5.393456	0.522756987221802	0.69525	5.372707	0.999999999997483	0.74766	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.09	5.09	0.68647	9.151000	0.93839	11.364000	0.92594	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.693000	0.33928	0.0:0.0:1.0:0.0	17.483	0.87573	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1716.83	42	chr1	8335458	.	G	A	1716.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.814;DP=357;ExcessHet=0;FS=3.047;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.015;SOR=0.962	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1727,0,1698	5	0	1	0
chr1	9264760	9264760	C	A	exonic	H6PD	.	nonsynonymous SNV	H6PD:NM_001282587:exon5:c.C2300A:p.T767K,H6PD:NM_004285:exon5:c.C2267A:p.T756K	Cortisone reductase deficiency 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00897757397568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.07354	T	0.41	0.15305	T	0.218	0.30213	B	0.042	0.24114	B	0.250971	0.15511	N	0.671970	0.999998	0.08975	N	0.09	0.08384	N	1.09	0.39223	T	-1.45	0.35597	N	0.117	0.12484	-1.0306	0.20260	T	0.043	0.18659	T	10	0.053057224	0.05436	T	0.008978	0.23655	T	0.032	0.07718	0.409	0.44395	0.350746614512	0.34690	0.5937393076524289	0.59303	0.145806617952	0.16464	0.249853372574	0.03752	T	0.068013	0.33349	T	-0.268066	0.11972	T	-0.622835	0.10965	T	0.0793222225045093	0.09899	T	0.607439	0.22904	T	0.02974765	0.02521	0.0588847	0.10956	0.02974765	0.02521	0.0588847	0.10955	-2.54	0.06061	T	0.2365575781084429	0.32033	0.139	0.30344	B	.;.	.;.	0.695686	0.10646	7.343	0.29806043174459967	0.01599	0.19939	0.20853	N	AEFDBI	0.272892	0.38842	N	-1.09329948972213	0.06766	0.3124045	-1.05188080232145	0.08668	0.427317	0.967316113847975	0.28968	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.45	0.709	0.17307	1.393000	0.34106	-0.415000	0.09322	-0.181000	0.10308	0.040000	0.20979	0.000000	0.08366	0.814000	0.38357	0.0:0.5823:0.0:0.4177	8.949	0.34939	903	0.23940	Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-type;Glucosamine/galactosamine-6-phosphate isomerase|6-phosphogluconolactonase, DevB-type|6-phosphogluconolactonase, DevB-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	.	.	.	.	.	.	.	.	0.08333	2057.83	40	chr1	9264760	.	C	A	2057.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.88;DP=342;ExcessHet=0;FS=2.062;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.312;SOR=0.911	GT:AD:DP:GQ:PL	0/1:73,77:150:99:2068,0,1866	5	0	1	0
chr1	9872043	9872043	C	T	exonic	CTNNBIP1	.	nonsynonymous SNV	CTNNBIP1:NM_001012329:exon3:c.G22A:p.G8R,CTNNBIP1:NM_020248:exon4:c.G22A:p.G8R	.	413	1103	5	1	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.788	0.0789979547203	0.0014	0.00159744	0.0012	0.0016	0.0010	0	0	0.0010	0.0044	0.0030	0.0011125	172	154602	rs113935062	0.0008	0.0008	0.0006	0.0009	0.0035	0.0007	0.0007	0.0026	0.0025	0.0017	0.0007	0.0007	0	3.744e-05	0.0035	0.0006	0.0011	0.0029	0.0010	0.0010	0.0010	0.0011	0.0019	0.0009	0.0008	0.0015	0.0013	0.0018	0	0.0007	0.0006	0	0	0.0068	0.0008	0.0028	0.0019	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	.	.	.	-7.98	0.96395	D	0.895	0.89465	-0.1288	0.79429	T	0.452	0.78562	T	7	0.09904593	0.17948	T	0.078998	0.73134	D	0.788	0.92988	0.73	0.86373	0.566157159212	0.56278	0.6757922675806741	0.67517	1.14941867883	0.79163	0.87816298008	0.93712	D	0.563281	0.85417	D	0.157932	0.70009	D	0.449467	0.93566	D	0.137941673398018	0.16096	T	0.910209	0.68156	D	0.8309937	0.85971	0.7797654	0.87015	0.8309937	0.85973	0.7797654	0.87016	-3.621	0.18161	T	.	.	0.437	0.61572	A	.;.;.;.	.;.;.;.	5.303402	0.89035	29.8	0.99866399551738549	0.94457	0.96689	0.70415	D	AEFDBI	0.890924	0.82641	D	0.667462448410622	0.77503	6.687234	0.671753812635673	0.80238	7.255043	0.999999999999644	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	7.568000	0.81546	7.588000	0.61163	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.566	0.87817	639	0.64210	Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT domain;Beta-catenin-interacting ICAT 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	0.006042	0.005051	0.006793	0.002924	0.000000	0.000000	0.009146	0.007576	0.08333	1323.83	36	chr1	9872043	.	C	T	1323.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1;DP=317;ExcessHet=0;FS=2.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.982;SOR=0.794	GT:AD:DP:GQ:PL	0/1:80,58:138:99:1334,0,1888	5	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1750.23	207	chr1	10326244	.	G	C	1750.23	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-5.566;DP=810;ExcessHet=3.1439;FS=242.254;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=1.34;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,26:153:42:0|1:10326244_G_C:42,0,4433:10326244	3	0	3	0
chr1	12022306	12022306	C	T	exonic	MIIP	.	nonsynonymous SNV	MIIP:NM_021933:exon3:c.C326T:p.P109L	.	.	.	.	.	.	.	.	.	.	.	2438811	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00415135316268	0.0003	0.000199681	6.735e-05	0.0004	0	0	0	6.153e-05	0	0	7.12e-05	11	154602	rs150131592	3.489e-05	3.489e-05	3.267e-05	3.713e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0001	0.0003	4.472e-05	0	2.519e-05	0	0	1.799e-05	1.656e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	0	0	0.0002	0	0	5.883e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.008	0.14655	B	0.004	0.10090	B	0.737367	0.06407	N	1.158550	1	0.08975	N	0.145	0.08828	N	2.36	0.16089	T	-1.55	0.37566	N	0.031	0.00770	-0.9672	0.37774	T	0.019	0.08033	T	10	0.014510989	0.00305	T	0.004151	0.09963	T	0.055	0.15663	.	.	0.0297737177859	0.01360	0.11717981167449362	0.11645	0.0957698984691	0.10815	0.297530651093	0.10034	T	0.003831	0.03242	T	-0.645546	0.00077	T	-0.835057	0.01176	T	0.0190186224222752	0.00611	T	0.678632	0.28733	T	0.02106342	0.00690	0.040418446	0.04362	0.02106342	0.00690	0.040418446	0.04362	-4.252	0.27499	T	.	.	0.075	0.05447	B	.	.	-1.414230	0.00350	0.006	0.779465176335701	0.12090	0.00520	0.02423	N	AEFBI	0.039752	0.05818	N	-1.63442398927641	0.01102	0.04785448	-1.70308952407538	0.01124	0.05052124	0.999999671344772	0.74766	0.631515	0.41029	0	0.685571	0.66316	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.69	-7.21	0.01340	-2.350000	0.01172	-9.160000	0.00859	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.2371:0.0:0.7629	14.354	0.66289	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1667	3452.04	42	chr1	12022306	.	C	T	3452.04	.	AC=2;AF=0.167;AN=12;DP=302;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.88;SOR=1.222	GT:AD:DP:GQ:PL	1/1:0,105:105:99:3472,315,0	5	1	0	0
chr1	12253770	12253770	A	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon7:c.A613G:p.I205V,VPS13D:NM_018156:exon7:c.A613G:p.I205V	.	438	1066	18	0	0	18	0.00837209	.	.	.	1545717	not_provided|VPS13D-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.047	0.00188998524225	0.0028	0.00179712	0.0025	0.0003	0.0021	0.0001	0.0002	0.0036	0.0033	0.0015	0.0025938	401	154602	rs61774897	0.0031	0.0031	0.0030	0.0032	0.0064	0.0030	0.0030	0.0048	0.0042	0.0004	0.0025	0.0157	0	0.0002	0.0064	0.0032	0.0034	0.0020	0.0023	0.0023	0.0023	0.0024	0.0044	0.0021	0.0021	0.0036	0.0033	0.0005	0	0.0044	0.0138	0	9.409e-05	0.0102	0.0030	0.0028	0.0014	.	.	.	0.84	0.03610	T	0.0	0.02946	B	0.001	0.06944	B	0.000832	0.41547	D	0.216253	0.975897	0.25407	N	-0.735	0.01762	N	.	.	.	.	.	.	0.217	0.24385	-1.0181	0.24334	T	0.031	0.13418	T	10	0.010130167	0.00227	T	0.00189	0.03325	T	.	.	.	.	0.043077524339	0.03247	0.14933114223322055	0.14855	.	.	0.303793847561	0.10970	T	0.057816	0.30670	T	-0.574703	0.00207	T	-0.595963	0.13153	T	0.00350162121524744	0.00037	T	0.653935	0.26417	T	0.041209448	0.06027	0.03329593	0.02200	0.042531952	0.06467	0.025643606	0.00617	-2.375	0.04982	T	0.13253507610897544	0.14139	0.064	0.01668	B	.;.	.;.	0.704139	0.10728	7.420	0.51522997681267424	0.04578	0.58479	0.30653	D	AEFBI	0.057484	0.10712	N	-0.905339394498752	0.10715	0.5134602	-0.700824040664418	0.16940	0.8984954	0.76011316289932	0.23495	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.48	1.84	0.24348	1.119000	0.30872	-0.066000	0.12360	-0.041000	0.17446	1.000000	0.71638	0.000000	0.08366	0.946000	0.48989	0.5772:0.1361:0.2867:0.0	5.551	0.16378	862	0.33134	Vacuolar protein sorting-associated protein 13, second N-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.010101	0.008152	0.000000	0.000000	0.043103	0.006098	0.007576	0.1667	3615.04	33	chr1	12253770	.	A	G	3615.04	.	AC=2;AF=0.167;AN=12;DP=309;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.02;SOR=0.772	GT:AD:DP:GQ:PL	1/1:0,129:129:99:3635,386,0	5	1	0	0
chr1	12828612	12828612	C	A	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon2:c.G178T:p.A60S	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00102373929772	.	0.00219649	0.0038	0.0021	0.0012	0.0006	0.0018	0.0052	0.0057	0.0034	0.0009605	25	26028	rs202092704	0.0057	0.0057	0.0058	0.0056	0.0085	0.0056	0.0056	0.0078	0.0075	0.0018	0.0015	7.661e-05	0.0085	0.0011	0.0029	0.0065	0.0046	0.0038	0.0037	0.0037	0.0039	0.0035	0.0059	0.0035	0.0034	0.0054	0.0052	0.0024	0	0.0015	0	0.0016	0.0008	0.0034	0.0059	0.0029	0.0034	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.769021	0.09562	N	0.898344	0.999988	0.18198	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-1.0508	0.14175	T	0.097	0.36393	T	10	0.008385986	0.00190	T	0.001024	0.01120	T	.	.	.	.	0.148003135375	0.14442	0.16678457885408635	0.16598	.	.	0.51758980751	0.41287	T	.	.	.	-0.0695255	0.41403	T	-0.337645	0.40612	T	0.0324580337677087	0.02382	T	.	.	.	0.06529126	0.13939	0.079766385	0.17985	0.06529126	0.13939	0.079766385	0.17985	-6.875	0.53114	T	.	.	0.114	0.22789	B	.	.	2.296188	0.29380	18.10	0.99407113350042575	0.63075	0.01103	0.04044	N	AEFI	0.026675	0.02044	N	-0.197640444418896	0.33231	1.88305	-0.495082702403588	0.22289	1.209874	1.14518241735908E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.45	0.503	0.16145	0.302000	0.18947	-10.114000	0.00738	0.399000	0.20540	0.250000	0.24849	0.000000	0.08366	0.231000	0.22761	0.0:0.7525:0.0:0.2475	3.773	0.08170	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003191	0.005051	0.000000	0.000000	0.000000	0.008621	0.018405	0.000000	0.1667	3957.04	35	chr1	12828612	.	C	A	3957.04	.	AC=2;AF=0.167;AN=12;DP=322;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=50.63;QD=32.17;SOR=1.004	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3977,369,0	5	1	0	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	31748.6	546	chr1	16564144	.	C	T	31748.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.623;DP=3888;ExcessHet=11.5949;FS=1.946;MLEAC=6;MLEAF=0.5;MQ=54.06;MQRankSum=-16.19;QD=8.4;ReadPosRankSum=0.566;SOR=0.858	GT:AD:DP:GQ:PL	0/1:385,253:638:99:6161,0,12085	0	0	6	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	33316.6	523	chr1	16564149	.	C	T	33316.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.191;DP=3774;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=53.96;MQRankSum=6.79;QD=9;ReadPosRankSum=0.001;SOR=0.685	GT:AD:DP:GQ:PL	0/1:482,128:610:99:2179,0,16779	0	0	6	0
chr1	16569177	16569177	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	407	1113	2	0	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00466504103054	.	.	0.0007	0.0002	0.0002	0.0002	0.0006	0.0010	0	0.0001	3.84e-05	1	26028	rs770782176	2.143e-05	3.8e-05	1.784e-05	2.502e-05	0.0002	1.449e-05	1.218e-05	8.845e-05	6.764e-05	0	0	0	9.411e-05	0	0	1.042e-05	4.429e-05	0.0002	1.083e-05	3.278e-05	0	2.267e-05	2.071e-05	0	0	.	.	0	0	0	0	0	0	0	2.071e-05	0	0	.	.	.	0.521	0.10429	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.22742	.	.	.	.	.	.	.	0.026615262	0.00824	T	0.004665	0.11566	T	.	.	.	.	0.0986583533028	0.09354	0.012333586343959183	0.01192	.	.	0.471973478794	0.34952	T	.	.	.	-0.58113	0.00190	T	-1.07253	0.00046	T	.	.	.	0.630337	0.24523	T	.	.	.	.	.	.	.	.	-6.378	0.49338	T	.	.	0.115	0.23077	B	.;.	.;.	-0.111868	0.03571	0.692	0.52479155039686554	0.04756	0.00456	0.02204	N	AEFBCI	0.022563	0.01144	N	.	.	.	.	.	.	0.0150520228551038	0.12669	0.295142	0.05270	0	0.264834	0.04865	2	0.271638	0.05368	0	0.322829	0.05601	0	.	.	0.575	-1.15	0.09211	-0.985000	0.03861	-7.478000	0.01148	-0.551000	0.04898	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	463	0.78548	.;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	0.002273	0.006173	0.001366	0.004348	0.000000	0.000000	0.003497	0.000000	0.08333	286.83	36	chr1	16569177	.	G	A	286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.83;DP=743;ExcessHet=0;FS=5.173;MLEAC=1;MLEAF=0.083;MQ=34.05;MQRankSum=1.34;QD=0.8;ReadPosRankSum=0.101;SOR=1.139	GT:AD:DP:GQ:PL	0/1:313,44:357:99:297,0,8368	5	0	1	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.25	2153.18	221	chr1	16577387	.	T	C	2153.18	.	AC=3;AF=0.25;AN=12;BaseQRankSum=4.21;DP=1295;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=40.47;MQRankSum=0.736;QD=3.18;ReadPosRankSum=-0.328;SOR=0.775	GT:AD:DP:GQ:PL	0/1:158,65:223:99:1529,0,4187	3	0	3	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	0.3333	1202.22	52	chr1	16579293	.	A	G	1202.22	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.45;DP=312;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.29;ReadPosRankSum=-0.469;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,8:32:99:0|1:16579293_A_G:264,0,975:16579293	2	0	4	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	0.3333	1200.96	52	chr1	16579294	.	T	C	1200.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.25;DP=313;ExcessHet=3.1439;FS=110.908;MLEAC=4;MLEAF=0.333;MQ=36.11;MQRankSum=1.78;QD=8.28;ReadPosRankSum=-0.363;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,8:32:99:0|1:16579293_A_G:264,0,975:16579293	2	0	4	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	0.3333	515.95	52	chr1	16579305	.	G	A	515.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.93;DP=292;ExcessHet=3.1439;FS=79.332;MLEAC=4;MLEAF=0.333;MQ=35.81;MQRankSum=0.073;QD=3.94;ReadPosRankSum=0.406;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:99:0|1:16579305_G_A:102,0,850:16579305	2	0	4	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	0.3333	385.95	52	chr1	16579308	.	G	C	385.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.18;DP=294;ExcessHet=3.1439;FS=66.33;MLEAC=4;MLEAF=0.333;MQ=35.87;MQRankSum=0.073;QD=2.9;ReadPosRankSum=0.078;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,4:25:99:0|1:16579305_G_A:102,0,850:16579305	2	0	4	0
chr1	16589981	16589981	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	384	1109	29	0	0	29	0.0129061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0275	0.1234	0.0087	0.0260	0.0210	0.0210	0.0321	0.0187	0.0018826	49	26028	rs201201393	0.0002	0.0010	0.0002	0.0002	0.0015	0.0002	0.0002	0.0012	0.0011	0.0015	0.0001	7.842e-05	7.679e-05	0	0.0012	0.0002	0.0003	0.0001	0.0013	0.0053	0.0014	0.0012	0.0039	0.0011	0.0011	0.0034	0.0032	0.0039	0	0.0004	0.0015	0.0004	0	0	0.0004	0.0010	0.0002	.	.	.	0.387	0.15650	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.12913	.	.	.	.	.	.	.	0.002197355	0.00032	T	.	.	.	.	.	.	.	.	.	0.015120513214505648	0.01468	.	.	0.524389743805	0.42245	T	.	.	.	-0.403559	0.02194	T	-0.817461	0.01504	T	.	.	.	0.856914	0.54589	D	.	.	.	.	.	.	.	.	-8.971	0.67510	D	.	.	0.190	0.40858	B	.;.	.;.	1.278456	0.16779	12.76	0.22335699334227638	0.00894	0.00119	0.00751	N	AEFI	0.030811	0.03172	N	.	.	.	.	.	.	0.999694517471124	0.41870	0.295142	0.05270	0	0.156256	0.03748	2	0.121787	0.03316	0	0.322829	0.05601	0	.	.	0.548	-1.1	0.09367	-0.173000	0.09844	-20.000000	0.00162	-0.731000	0.03728	0.035000	0.20724	0.000000	0.08366	0.006000	0.07323	.	.	.	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	0.054810	0.024096	0.081967	0.042017	0.062500	0.060345	0.051724	0.042308	0.08333	33.84	172	chr1	16589981	.	G	C	33.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.05;DP=1154;ExcessHet=0;FS=31.479;MLEAC=1;MLEAF=0.083;MQ=41.25;MQRankSum=-3.363;QD=0.15;ReadPosRankSum=-0.614;SOR=3.996	GT:AD:DP:GQ:PL	0/1:211,22:233:44:44,0,5938	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	5012.6	87	chr1	16759590	.	G	GC	5012.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=4.48;DP=512;ExcessHet=3.1439;FS=24.644;MLEAC=8;MLEAF=0.667;MQ=44.92;MQRankSum=-1.979;QD=10.92;ReadPosRankSum=-3.688;SOR=1.288	GT:AD:DP:GQ:PL	1/1:0,32:32:96:1112,96,0	0	2	4	0
chr1	18955866	18955866	C	A	exonic	IFFO2	.	nonsynonymous SNV	IFFO2:NM_001136265:exon1:c.G467T:p.R156L	.	407	1114	1	0	0	1	0.000448632	.	.	.	2280822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.289	0.513092391293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.085	0.41074	T	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	0.999602	0.47795	D	0.975	0.24501	L	0.59	0.53943	T	-1.41	0.34795	N	0.364	0.40565	-0.6760	0.61557	T	0.248	0.61785	T	9	0.43092364	0.57484	T	0.513092	0.95331	D	0.289	0.60808	0.642	0.77903	0.455265801863	0.45150	0.8290949623820782	0.82867	2.28023288206	0.96325	0.894894897938	0.95855	D	0.010291	0.09303	T	0.0274211	0.55379	T	-0.198388	0.54800	T	0.893050849437714	0.54421	D	0.59994	0.22366	T	0.37559345	0.58995	0.44524443	0.67679	0.37559345	0.58996	0.44524443	0.67679	-2.789	0.08082	T	.	.	0.709	0.73347	P	.	.	5.136978	0.85987	28.8	0.97241286631421786	0.32996	0.44275	0.27282	N	ALL	0.287256	0.39945	N	0.207672037401159	0.51571	3.337239	0.14854246744186	0.47064	2.942393	1.0	0.98316	0.443343	0.08805	1	0.218748	0.04544	0	0.666236	0.60216	0	0.249971	0.05119	0	.	.	4.19	4.19	0.48645	0.013000	0.13206	3.857000	0.40118	0.428000	0.20880	0.668000	0.28331	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.416	0.74698	916	0.20744	Intermediate filament, rod domain|Intermediate filament, rod 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	.	.	.	.	.	.	.	.	0.08333	339.83	37	chr1	18955866	.	C	A	339.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.18;DP=189;ExcessHet=0;FS=8.644;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.16;SOR=2.494	GT:AD:DP:GQ:PL	0/1:24,11:35:99:350,0,560	5	0	1	0
chr1	20724226	20724226	C	T	exonic	SH2D5	.	nonsynonymous SNV	SH2D5:NM_001103160:exon6:c.G404A:p.R135H,SH2D5:NM_001103161:exon7:c.G656A:p.R219H	.	381	1118	22	1	0	24	0.0106195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00751558335627	0.0017	0.000798722	0.0017	0.0004	0.0007	0	0.0002	0.0020	0.0023	0.0032	0.0015847	245	154602	rs41265079	0.0018	0.0018	0.0019	0.0018	0.0047	0.0018	0.0018	0.0033	0.0028	0.0002	0.0006	0.0074	0	0.0003	0.0047	0.0019	0.0019	0.0028	0.0013	0.0013	0.0013	0.0013	0.0027	0.0011	0.0011	0.0016	0.0015	0.0003	0	0.0009	0.0063	0	9.414e-05	0.0102	0.0019	0.0014	0.0027	0.008	0.59928	D	0.058	0.46182	T	0.997	0.70673	D	0.707	0.54387	P	0.015114	0.28339	N	0.337866	0.98663	0.24597	N	1.79	0.46772	L	.	.	.	-1.3	0.32590	N	0.437	0.48780	-0.8884	0.49071	T	0.164	0.50094	T	9	0.007415533	0.00169	T	0.007516	0.19952	T	0.130	0.35528	.	.	0.458283960492	0.45451	0.2855111255774298	0.28464	0.542418983261	0.51350	0.505433797836	0.39584	T	0.025454	0.19032	T	-0.335884	0.05678	T	-0.259241	0.48899	T	0.0102233049630108	0.00139	T	0.579042	0.20891	T	0.105619356	0.24973	0.07811593	0.17466	0.105619356	0.24973	0.07811593	0.17466	-5.167	0.38635	T	.	.	0.095	0.14979	B	.;.	.;.	4.242455	0.64330	24.7	0.99928835367590518	0.99222	0.50067	0.28577	D	AEFDBI	0.120305	0.23442	N	0.192860258940285	0.50855	3.271726	0.0967645435319828	0.44384	2.721337	0.999994868197395	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.82	4.82	0.61641	0.866000	0.27608	4.027000	0.41303	0.599000	0.40250	0.463000	0.26667	0.999000	0.35428	0.385000	0.26447	0.0:1.0:0.0:0.0	14.921	0.70481	843	0.36859	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.008772	0.000000	0.008621	0.003049	0.003788	0.08333	838.83	35	chr1	20724226	.	C	T	838.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=237;ExcessHet=0;FS=3.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.051;SOR=0.581	GT:AD:DP:GQ:PL	0/1:29,32:61:99:849,0,660	5	0	1	0
chr1	21879108	21879108	T	C	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon18:c.A2360G:p.N787S,HSPG2:NM_005529:exon18:c.A2357G:p.N786S	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1509	12	1	0	14	0.00461741	.	.	.	205727	Lethal_Kniest-like_syndrome|not_provided|Connective_tissue_disorder|Schwartz-Jampel_syndrome|not_specified	MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.375	.	0.0065	0.00179712	0.0067	0.0012	0.0020	0	0.0157	0.0095	0.0088	0.0017	0.0063324	979	154602	rs143736974	0.0070	0.0070	0.0070	0.0071	0.0076	0.0069	0.0069	0.0074	0.0074	0.0008	0.0023	0.0077	2.519e-05	0.0159	0.0024	0.0076	0.0068	0.0029	0.0061	0.0061	0.0060	0.0061	0.0087	0.0057	0.0056	0.0081	0.0079	0.0013	0	0.0046	0.0086	0.0002	0.0149	0.0034	0.0087	0.0057	0.0019	0.252	0.17014	T	0.018	0.59732	D	0.999	0.77913	D	0.992	0.80445	D	0.000738	0.42129	D	0.000000	0.745274	0.29693	N	2.905	0.84014	M	-0.22	0.66474	T	-2.78	0.58896	D	0.507	0.53884	-0.1510	0.78892	T	0.420	0.76550	T	10	0.012245119	0.00264	T	.	.	.	0.375	0.69358	.	.	0.609643014007	0.60650	0.27630792947456645	0.27543	0.183394758228	0.20629	0.496132850647	0.38290	T	0.314263	0.68595	T	-0.425831	0.01571	T	-0.375058	0.36300	T	0.0574038816292067	0.06754	T	0.894311	0.63332	D	0.48040593	0.65925	0.4265307	0.66427	0.48040593	0.65925	0.4265307	0.66427	-9.241	0.69235	D	.	.	0.198	0.42067	B	.	.	4.341864	0.66620	25.0	0.99827877460282632	0.91026	0.91085	0.52830	D	AEFBCI	0.660999	0.63137	D	0.647559683825149	0.76212	6.444776	0.558657061133332	0.72004	5.741643	0.999963396408416	0.48965	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	4.08	0.46880	5.187000	0.64925	6.169000	0.54460	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.086:0.0:0.914	9.359	0.37349	796	0.45353	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	rs143736974	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	.	.	.	.	.	.	.	.	0.08333	314.83	36	chr1	21879108	.	T	C	314.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.35;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-0.427;SOR=0.544	GT:AD:DP:GQ:PL	0/1:35,12:47:99:325,0,878	5	0	1	0
chr1	24108029	24108029	G	C	exonic	MYOM3	.	nonsynonymous SNV	MYOM3:NM_152372:exon3:c.C206G:p.A69G	.	423	1085	14	0	0	14	0.00641026	.	.	.	2194833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.015330486493	0.0015	0.000599042	0.0013	0.0001	0.0003	0	0.0012	0.0021	0	0.0003	0.0014618	226	154602	rs186409908	0.0021	0.0021	0.0022	0.0021	0.0035	0.0021	0.0021	0.0025	0.0025	0.0002	0.0007	7.66e-05	0	0.0006	0.0035	0.0026	0.0022	0.0005	0.0015	0.0015	0.0015	0.0014	0.0027	0.0013	0.0013	0.0024	0.0023	0.0004	0	0.0010	0	0	0.0007	0	0.0027	0	0.0002	0.077	0.34095	T	0.166	0.30828	T	0.993	0.65571	D	0.978	0.74104	D	0.011091	0.29665	N	0.237482	0.843655	0.35107	D	0.345	0.11182	N	0.45	0.56446	T	-1.37	0.33998	N	0.498	0.53093	-0.6173	0.64100	T	0.175	0.51896	T	10	0.019922912	0.00451	T	0.01533	0.35999	T	0.220	0.51569	.	.	0.416454006429	0.41261	0.29348820385581803	0.29261	0.361311190321	0.37790	0.449317216873	0.31850	T	0.007275	0.06695	T	-0.399938	0.02317	T	-0.348415	0.39386	T	0.0436684848776954	0.04360	T	0.843416	0.52040	T	0.10666249	0.25221	0.14032845	0.33453	0.10666249	0.25221	0.14032845	0.33452	-3.97	0.23353	T	.	.	0.267	0.50091	B	.	.	4.372633	0.67337	25.1	0.99703930072356484	0.80867	0.78893	0.38995	D	ALL	0.637653	0.61636	D	0.343626578984955	0.58403	4.012407	0.38840973839583	0.60849	4.277342	0.999999999959789	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.056198	0.00348	3	0.662026	0.63922	0	.	.	5.29	5.29	0.74430	5.063000	0.64162	11.841000	0.97811	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.555000	0.30293	0.0:0.0:1.0:0.0	14.425	0.66777	412	0.82007	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.004087	0.005848	0.000000	0.000000	0.000000	0.007576	0.08333	1114.83	35	chr1	24108029	.	G	C	1114.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.359;DP=255;ExcessHet=0;FS=0.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-1.101;SOR=0.919	GT:AD:DP:GQ:PL	0/1:26,47:73:99:1125,0,541	5	0	1	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2280.3	38	chr1	26282334	.	TGGGGCCG	*	2280.3	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.032;DP=146;ExcessHet=2.3007;FS=1.693;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=0.352;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,2:29:4:1|0:26282278_C_T:4,0,1053:26282278	4	0	2	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2236.3	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	2236.3	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.52;DP=156;ExcessHet=2.3007;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=0.907;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,2:29:4:1|0:26282278_C_T:4,0,1053:26282278	4	0	2	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	333.15	37	chr1	26282357	.	CTGGGGCCGGG	*	333.15	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.744;DP=163;ExcessHet=6.1542;FS=1.486;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.27;ReadPosRankSum=1.63;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,2:29:4:1|0:26282278_C_T:4,0,1053:26282278	1	1	4	0
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	409.4	35	chr1	26282386	.	GCCGGGA	*	409.4	.	AC=4;AF=0.4;AN=10;DP=180;ExcessHet=0.7136;FS=7.449;MLEAC=4;MLEAF=0.4;MQ=60;QD=3.56;SOR=0.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,18:36:99:0|1:26282278_C_T:627,0,691:26282278	1	0	4	1
chr1	26941557	26941557	G	A	exonic	NUDC	.	nonsynonymous SNV	NUDC:NM_006600:exon3:c.G260A:p.R87Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.0834775923441	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757488340	9.596e-06	9.577e-06	1.227e-05	6.891e-06	4.528e-05	5.57e-06	4.36e-06	7.51e-06	2.81e-06	2.988e-05	4.528e-05	0	0	0	0	6.301e-06	6.643e-05	0	6.573e-06	6.567e-06	1.285e-05	0	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.079	0.35349	T	0.049	0.50514	D	0.65	0.40644	P	0.097	0.30390	B	0.000080	0.52346	D	0.167825	0.999914	0.51042	D	2.42	0.70002	M	-1.62	0.82347	D	-1.18	0.36385	N	0.588	0.60833	0.188	0.85702	D	0.662	0.88261	D	10	0.39850998	0.55400	T	0.083478	0.74124	D	0.379	0.69696	0.26	0.20315	0.692095630652	0.68945	0.3074319133202617	0.30656	0.366967266	0.38266	0.517530202866	0.41278	T	0.028174	0.27821	T	0.00292747	0.52059	T	-0.0544993	0.66714	D	0.477122485637665	0.31792	T	0.918408	0.70674	D	0.09304545	0.21845	0.112403184	0.27122	0.09304545	0.21844	0.112403184	0.27121	-3.301	0.13750	T	.	.	0.134	0.29116	B	.;.;.	.;.;.	3.919599	0.57214	23.8	0.99919106117806922	0.98654	0.99734	0.99061	D	AEFDGBI	0.896985	0.83867	D	0.504203789233768	0.67337	5.068311	0.522030374946808	0.69474	5.36568	0.999999763599671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.626000	0.97807	3.995000	0.41022	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.389000	0.26536	0.0:0.0:1.0:0.0	17.626	0.87995	584	0.69381	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1738.06	34	chr1	26941557	.	G	A	1738.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.82;DP=275;ExcessHet=0.4139;FS=1.398;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.38;SOR=0.882	GT:AD:DP:GQ:PL	0/1:26,30:56:99:877,0,533	4	0	2	0
chr1	27353338	27353338	C	A	exonic	SYTL1	.	nonsynonymous SNV	SYTL1:NM_001193308:exon14:c.C1399A:p.R467S,SYTL1:NM_032872:exon14:c.C1363A:p.R455S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.0616146518011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.61437	D	0.011	0.64786	D	0.962	0.55554	D	0.838	0.60045	P	0.000549	0.43413	D	0.229825	1	0.08975	N	1.54	0.38927	L	-0.3	0.67874	T	-2.68	0.57435	D	0.476	0.51137	-0.5046	0.68483	T	0.395	0.74786	T	10	0.51183057	0.62141	D	0.061615	0.68388	D	0.339	0.66106	0.743	0.87486	0.799954522492	0.79808	0.48356460087286873	0.48276	0.771912176241	0.64812	0.332013636827	0.15238	T	0.102134	0.78252	T	-0.0455682	0.45119	T	-0.303232	0.44383	T	0.922957837581635	0.58335	D	0.883212	0.60517	D	0.589481	0.72122	0.48686913	0.70303	0.589481	0.72123	0.48686913	0.70303	-9.228	0.69153	D	.	.	0.333	0.55410	B	.;.;.;.	.;.;.;.	3.263907	0.44646	22.0	0.99580440808703685	0.72980	0.12931	0.17565	N	AEFBHCI	0.142751	0.26527	N	-0.0333126744284914	0.40352	2.394803	-0.112081892758462	0.34903	2.012968	0.997454351822435	0.35635	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.57	3.64	0.40864	0.157000	0.16219	2.076000	0.30469	0.599000	0.40250	0.001000	0.13787	0.948000	0.28948	0.960000	0.51673	0.4382:0.5618:0.0:0.0	13.421	0.60445	568	0.70638	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	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1120.83	90	chr1	27353338	.	C	A	1120.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.18;DP=340;ExcessHet=0;FS=5.104;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.184;SOR=1.201	GT:AD:DP:GQ:PL	0/1:57,41:98:99:1131,0,1393	5	0	1	0
chr1	27370634	27370634	T	C	exonic	FCN3	.	nonsynonymous SNV	FCN3:NM_173452:exon6:c.A587G:p.Y196C,FCN3:NM_003665:exon7:c.A620G:p.Y207C	Immunodeficiency due to ficolin 3 deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	1015715	Immunodeficiency_due_to_ficolin3_deficiency|not_provided	MONDO:MONDO:0013467,MedGen:C3151226,OMIM:613860,Orphanet:331190|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.548	0.0204591217595	.	.	4.944e-05	0	0	0	0	7.496e-05	0	6.058e-05	5.17e-05	8	154602	rs781053078	7.524e-05	7.524e-05	7.895e-05	7.15e-05	0.0035	6.382e-05	5.938e-05	0.0023	0.0019	5.974e-05	2.236e-05	0	0	0	0.0035	7.104e-05	0.0001	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.825288	0.06908	N	1.111850	0.999999	0.08975	N	4.705	0.99486	H	-2.11	0.86216	D	-8.7	0.97637	D	0.598	0.61680	-0.2308	0.76866	T	0.806	0.93436	D	10	0.9660878	0.96095	D	0.020459	0.43059	T	0.548	0.81252	0.882	0.96934	0.927474996152	0.92673	0.8041784513441672	0.80371	0.627397697224	0.56835	0.330797612667	0.15054	T	0.371492	0.73585	T	0.257856	0.79330	D	0.324298	0.89271	D	0.56227373531794	0.34941	D	0.882812	0.60417	D	0.931944	0.94431	0.80255514	0.88430	0.931944	0.94432	0.80255514	0.88431	-9.487	0.70778	D	.	.	0.778	0.77664	P	.;.	.;.	3.268455	0.44732	22.0	0.9887144457337067	0.47649	0.23413	0.22068	N	AEFBI	0.299637	0.40863	N	0.156861162329416	0.49137	3.117521	-0.087430489363039	0.35909	2.08315	0.999847396739546	0.43971	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.32	1.94	0.25058	0.722000	0.25595	-0.274000	0.10324	0.665000	0.62972	0.011000	0.18532	0.002000	0.18203	0.645000	0.32557	0.0:0.1015:0.1826:0.7159	5.158	0.14374	607	0.67291	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	1	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.017544	0.050000	0.000000	0.003049	0.000000	0.1667	2757.06	34	chr1	27370634	.	T	C	2757.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.88;DP=346;ExcessHet=0.4139;FS=0.531;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=2.44;SOR=0.625	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1145,0,1369	4	0	2	0
chr1	29058814	29058814	C	T	exonic	EPB41	.	nonsynonymous SNV	EPB41:NM_001166005:exon14:c.C1906T:p.L636F,EPB41:NM_001376013:exon14:c.C1906T:p.L636F,EPB41:NM_001376016:exon14:c.C1906T:p.L636F,EPB41:NM_001376017:exon14:c.C1906T:p.L636F,EPB41:NM_001376018:exon14:c.C1903T:p.L635F,EPB41:NM_001376019:exon14:c.C1906T:p.L636F,EPB41:NM_001376020:exon14:c.C1903T:p.L635F,EPB41:NM_001376022:exon14:c.C1279T:p.L427F,EPB41:NM_001376023:exon14:c.C1279T:p.L427F,EPB41:NM_001376024:exon14:c.C1279T:p.L427F,EPB41:NM_001376025:exon14:c.C1279T:p.L427F	Elliptocytosis-1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.02790518135	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379629204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.29959	T	0.269	0.22426	T	0.234	0.30717	B	0.195	0.36592	B	0.697274	0.10124	N	0.823125	1	0.81001	D	0	0.06538	N	-1.83	0.84122	D	-0.93	0.24898	N	0.246	0.27792	-0.8062	0.54778	T	0.365	0.72590	T	10	0.10629678	0.19691	T	0.027905	0.50660	D	0.218	0.51265	0.188	0.09776	0.844669823518	0.84318	0.046231428348495196	0.04567	0.301784743686	0.32512	0.375472396612	0.21614	T	0.232853	0.59952	T	-0.0776721	0.40093	T	-0.349347	0.39280	T	0.345080107450485	0.26825	T	0.69663	0.30630	T	0.08674691	0.20173	0.09325523	0.22016	0.08674691	0.20173	0.09325523	0.22015	-5.377	0.40697	T	.	.	0.080	0.31583	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.770451	0.36367	20.2	0.9882487238879879	0.46852	0.96874	0.71409	D	AEFBI	0.365150	0.45343	N	-0.548708943881162	0.20524	1.08258	-0.375939668010419	0.25717	1.415942	0.00813746816750626	0.11617	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.32	2.26	0.27418	3.142000	0.50296	1.015000	0.23361	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.6028:0.3972:0.0	15.412	0.74656	444	0.79803	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	435.83	35	chr1	29058814	.	C	T	435.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.588;DP=206;ExcessHet=0;FS=4.3;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.498;SOR=1.254	GT:AD:DP:GQ:PL	0/1:25,19:44:99:446,0,636	5	0	1	0
chr1	35474896	35474896	T	G	exonic	KIAA0319L	.	nonsynonymous SNV	KIAA0319L:NM_024874:exon5:c.A924C:p.E308D	.	434	1076	12	0	0	12	0.00554529	.	.	.	2812629	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.047	0.0103198522308	0.0012	0.00119808	0.0012	0	0.0003	0	0.0003	0.0008	0.0055	0.0054	0.001216	188	154602	rs151103704	0.0013	0.0013	0.0012	0.0015	0.0055	0.0013	0.0012	0.0051	0.0049	0.0002	0.0002	7.708e-05	0	0.0002	0.0017	0.0012	0.0010	0.0055	0.0009	0.0009	0.0008	0.0010	0.0043	0.0008	0.0008	0.0029	0.0024	0.0003	0	0	0	0.0002	0.0003	0	0.0015	0	0.0043	0.046	0.40573	D	0.052	0.47581	T	0.321	0.33029	B	0.101	0.30765	B	0.000085	0.51296	D	0.168326	0.997144	0.43662	D	2.485	0.72352	M	3.07	0.14907	T	-1.69	0.41618	N	0.088	0.06587	-1.1169	0.02538	T	0.070	0.28577	T	10	0.0061453283	0.00138	T	0.01032	0.26719	T	0.047	0.12962	0.369	0.37850	0.233785782151	0.22967	0.3221979876497507	0.32132	0.296860669907	0.32077	0.377983748913	0.21970	T	0.047388	0.27709	T	-0.618871	0.00112	T	-0.660099	0.08259	T	0.0408378993508939	0.03843	T	0.874613	0.66542	D	0.15743412	0.35475	0.105926834	0.25473	0.15743412	0.35475	0.105926834	0.25472	-6.602	0.51068	T	.	.	0.123	0.39898	B	.;.;.	.;.;.	2.109641	0.26843	17.26	0.99708219864570524	0.81143	0.42964	0.26994	N	AEFBI	0.104455	0.20899	N	-0.503944999118098	0.21951	1.168752	-0.465938729170982	0.23098	1.257919	0.855105320386184	0.25117	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.8	-3.22	0.04808	0.183000	0.16729	-0.782000	0.07450	0.661000	0.55757	0.984000	0.35821	0.014000	0.20376	0.997000	0.79791	0.1381:0.5059:0.0:0.356	6.828	0.23080	346	0.85643	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.015152	0.08333	551.83	34	chr1	35474896	.	T	G	551.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.978;DP=241;ExcessHet=0;FS=0.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=0.092;SOR=0.515	GT:AD:DP:GQ:PL	0/1:40,26:66:99:562,0,1040	5	0	1	0
chr1	38046320	38046320	A	G	exonic	POU3F1	.	nonsynonymous SNV	POU3F1:NM_002699:exon1:c.T424C:p.S142P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.923623665945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.329	0.18617	T	0.898	0.49442	P	0.247	0.38902	B	0.310624	0.14440	N	0.591978	0.983746	0.40054	D	0.09	0.08384	N	-1.74	0.83413	D	0.25	0.04456	N	0.35	0.39153	-0.5055	0.68450	T	0.309	0.67913	T	10	0.29008308	0.46589	T	0.923624	0.99440	D	0.264	0.57741	0.219	0.14078	0.718519676408	0.71604	0.4834269180703046	0.48262	.	.	0.961445748806	0.99924	D	0.076013	0.35315	T	0.00670583	0.52576	T	-0.228144	0.51951	T	0.448929458856583	0.30758	T	0.408059	0.10511	T	0.13115847	0.30582	0.2055849	0.44735	0.13115847	0.30581	0.2055849	0.44734	-2.611	0.06587	T	.	.	0.156	0.34449	B	.	.	2.285506	0.29230	18.05	0.99016684769695074	0.50484	0.87247	0.46729	D	AEFDBHCI	0.554020	0.56503	D	0.0367532969168834	0.43534	2.644456	0.0416890228515537	0.41672	2.507519	0.999719967360756	0.42101	0.65757	0.49021	0	0.475579	0.06741	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	3.21	3.21	0.35933	0.288000	0.18695	6.773000	0.56565	0.570000	0.28895	0.048000	0.21332	1.000000	0.68203	0.323000	0.25040	1.0:0.0:0.0:0.0	8.104	0.30035	384	0.83545	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	40.83	36	chr1	38046320	.	A	G	40.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.565;DP=94;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=1.68;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:38046320_A_G:51,0,456:38046320	5	0	1	0
chr1	38046323	38046323	T	C	exonic	POU3F1	.	nonsynonymous SNV	POU3F1:NM_002699:exon1:c.A421G:p.M141V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.942540328279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.24372	T	0.566	0.08930	T	0.414	0.35185	B	0.039	0.23607	B	0.385820	0.13325	U	0.659566	0.902091	0.27680	N	0.895	0.22405	L	-1.64	0.82533	D	-0.85	0.23156	N	0.264	0.29889	-0.8165	0.54152	T	0.275	0.64722	T	10	0.25350875	0.42719	T	0.94254	0.99595	D	0.237	0.54074	0.21	0.12781	0.479363622381	0.47567	0.49559835048345835	0.49480	.	.	0.940927028656	0.99490	D	0.143387	0.47948	T	0.01058	0.53103	T	-0.222579	0.52488	T	0.0975255488640971	0.12082	T	0.508249	0.16142	T	0.14069222	0.32450	0.16410406	0.38033	0.14069222	0.32450	0.16410406	0.38032	-2.306	0.04588	T	.	.	0.085	0.10304	B	.	.	2.218329	0.28306	17.75	0.89141194993157424	0.18545	0.10272	0.15824	N	AEFDBHCI	0.104687	0.20940	N	-0.652030389359277	0.17402	0.8951281	-0.620091289887355	0.18977	1.016176	0.999999960899049	0.74766	0.65757	0.49021	0	0.475579	0.06741	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	3.21	3.21	0.35933	0.590000	0.23655	4.376000	0.43165	0.504000	0.22967	0.048000	0.21332	1.000000	0.68203	0.279000	0.23992	0.0:0.0:0.0:1.0	9.806	0.39963	384	0.83545	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	40.83	36	chr1	38046323	.	T	C	40.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.031;DP=96;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=1.68;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:38046320_A_G:51,0,456:38046320	5	0	1	0
chr1	41513042	41513042	T	A	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon7:c.A6179T:p.D2060V,HIVEP3:NM_024503:exon8:c.A6179T:p.D2060V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00336926760478	.	0.000399361	0.0003	0	8.7e-05	0	0	0	0.0012	0.0018	0.0002199	34	154602	rs539280427	0.0001	0.0001	5.446e-05	0.0001	0.0017	8.715e-05	8.202e-05	0.0015	0.0014	0	0	0	0	0	0	0	3.312e-05	0.0017	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.312e-05	3.037e-05	0	0	0	0	0	0	0	0	0	0.0004	0.077	0.34095	T	0.276	0.22494	T	0.001	0.07471	B	0.003	0.08700	B	0.928553	0.08437	N	0.958329	0.986648	0.24596	N	2.08	0.57402	M	3.35	0.05989	T	-0.46	0.14978	N	0.29	0.32812	-0.9145	0.46285	T	0.009	0.03271	T	10	0.0087482035	0.00198	T	0.003369	0.07542	T	0.103	0.29403	0.142	0.04556	0.12205267543	0.11705	0.1877347703169098	0.18691	0.26906606016	0.29422	0.455629467964	0.32713	T	0.081719	0.36662	T	-0.499352	0.00576	T	-0.496228	0.22739	T	0.0353407950032584	0.02867	T	0.570043	0.20293	T	0.11621755	0.27414	0.060215384	0.11430	0.11621755	0.27414	0.060215384	0.11430	-3.503	0.16473	T	.	.	0.097	0.17615	B	.;.;.	.;.;.	2.045833	0.26006	16.97	0.9041594579640575	0.19676	0.43874	0.27194	N	AEFDBHI	0.071548	0.14249	N	-0.752751256010454	0.14559	0.7262308	-0.64875664440181	0.18248	0.973996	0.998437412375822	0.36959	0.562547	0.31514	0	0.653731	0.59785	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	3.67	1.2	0.20181	0.269000	0.18354	2.600000	0.33516	0.502000	0.22824	0.176000	0.24013	1.000000	0.68203	0.649000	0.32665	0.2105:0.1214:0.0:0.6681	3.041	0.05768	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	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	590.83	60	chr1	41513042	.	T	A	590.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.422;DP=250;ExcessHet=0;FS=3.965;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.103;SOR=0.997	GT:AD:DP:GQ:PL	0/1:26,22:48:99:601,0,707	5	0	1	0
chr1	43603823	43603823	C	T	exonic	PTPRF	.	nonsynonymous SNV	PTPRF:NM_130440:exon15:c.C2644T:p.R882W,PTPRF:NM_002840:exon16:c.C2671T:p.R891W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0532842122816	.	.	1.651e-05	9.645e-05	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs767075536	1.231e-05	1.231e-05	1.089e-05	1.375e-05	8.961e-05	7.7e-06	6.35e-06	2.374e-05	1.258e-05	8.961e-05	2.236e-05	0	2.519e-05	0	0	1.169e-05	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.541e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	6.541e-05	0	0	0	0	0	0	0	0.021	0.49117	D	0.003	0.76473	D	0.995	0.67487	D	0.863	0.61398	P	0.007514	0.31355	N	0.000000	0.998478	0.44966	D	2.89	0.83701	M	0.15	0.60734	T	-6.0	0.89534	D	0.431	0.47022	-0.4942	0.68857	T	0.333	0.70018	T	10	0.58116496	0.65858	D	0.053284	0.65408	D	0.418	0.72780	0.661	0.79894	0.597428956802	0.59422	0.7530629465998118	0.75253	0.943060605836	0.72287	0.276582896709	0.07021	T	0.404966	0.76128	T	-0.0976765	0.36810	T	-0.196554	0.54974	T	0.955503284931183	0.64524	D	0.943906	0.78806	D	0.14620465	0.33480	0.1735793	0.39694	0.14620465	0.33480	0.1735793	0.39693	-9.634	0.71944	D	.	.	0.131	0.28145	B	.;.	.;.	3.725485	0.53263	23.3	0.99916288244073848	0.98449	0.89635	0.50226	D	AEFDBI	0.690992	0.65114	D	0.44725902392536	0.64046	4.650777	0.358126938379775	0.59000	4.074171	0.568458028818479	0.21472	0.706548	0.73137	0	0.659912	0.62753	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	1.92	0.24912	2.803000	0.47620	1.666000	0.27927	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.3145:0.5066:0.0:0.1788	5.018	0.13687	635	0.64580	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2867.83	35	chr1	43603823	.	C	T	2867.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.22;DP=405;ExcessHet=0;FS=2.269;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.75;SOR=0.853	GT:AD:DP:GQ:PL	0/1:116,106:222:99:2878,0,2924	5	0	1	0
chr1	46673263	46673263	C	T	exonic	TEX38	.	nonsynonymous SNV	TEX38:NM_001145474:exon2:c.C428T:p.S143F,TEX38:NM_001300863:exon2:c.C266T:p.S89F,TEX38:NM_001300864:exon2:c.C200T:p.S67F	.	428	1023	66	5	0	76	0.0358153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00798722	0.0150	0.0014	0.0130	0	0.0185	0.0115	0.0122	0.0235	0.0030271	468	154602	rs139847766	0.0068	0.0065	0.0061	0.0074	0.0228	0.0066	0.0066	0.0219	0.0215	0.0009	0.0025	0.0170	8.394e-05	0.0214	0.0183	0.0051	0.0075	0.0228	0.0069	0.0069	0.0058	0.0081	0.0251	0.0065	0.0064	0.0214	0.0201	0.0010	0	0.0025	0.0159	0	0.0263	0.0204	0.0073	0.0052	0.0251	0.002	0.91255	D	0.004	0.74150	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	0.999999	0.08975	N	1.7	0.43825	L	-1.05	0.76690	T	-3.38	0.78135	D	0.059	0.08646	.	.	.	.	.	.	.	0.003181696	0.00053	T	.	.	.	.	.	.	.	.	.	0.3266098415028297	0.32573	.	.	0.371366500854	0.21029	T	0.049521	0.32485	T	-0.408703	0.02028	T	-0.341597	0.40164	T	.	.	.	0.553645	0.19140	T	0.24107373	0.47018	0.2824542	0.54233	0.24107373	0.47018	0.2824542	0.54232	-4.009	0.23938	T	.	.	0.137	0.30211	B	.;.;.	.;.;.	2.704225	0.35333	19.87	0.99672898469081317	0.78717	0.08995	0.14837	N	AEFDBCI	0.084133	0.17050	N	.	.	.	.	.	.	0.984711121805387	0.30763	0.498214	0.20090	0	0.379588	0.06130	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	4.87	2.91	0.32903	0.783000	0.26463	1.811000	0.28962	0.524000	0.24156	0.003000	0.16062	0.092000	0.22550	0.618000	0.31844	0.1893:0.7116:0.0:0.0992	5.869	0.18039	186	0.92733	.;.;.	.	.	.	.	rs139847766	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017717	0.005263	0.021552	0.028689	0.000000	0.000000	0.010101	0.028302	0.08333	2172.83	39	chr1	46673263	.	C	T	2172.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.325;DP=548;ExcessHet=0;FS=1.207;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.293;SOR=0.796	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2183,0,2239	5	0	1	0
chr1	53737989	53737989	C	G	exonic	GLIS1	.	nonsynonymous SNV	GLIS1:NM_001367484:exon2:c.G76C:p.G26R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-07	6.84e-07	0	1.964e-06	1.088e-06	0	0	.	.	0	0	0	0	0	0	1.088e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.46368	.	.	.	.	.	.	.	0.3152694	0.48960	T	.	.	.	.	.	.	.	0.659170725732	0.65631	.	.	.	.	.	.	.	.	.	.	-0.0755668	0.40434	T	-0.346323	0.39626	T	.	.	.	0.635836	0.24975	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56468	A	.	.	3.985547	0.58615	24.0	0.86556927633866931	0.16616	0.64558	0.32446	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999986148642376	0.51787	0.166803	0.03914	0	0.085267	0.02369	0	0.182457	0.04408	0	0.166187	0.04126	0	0.454924	0.38710	4.13	2.24	0.27264	2.436000	0.44478	3.288000	0.37283	0.508000	0.23123	0.030000	0.20431	0.998000	0.33993	0.542000	0.29985	0.0:0.8072:0.0:0.1928	8.974	0.35087	492	0.76569	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	173.84	24	chr1	53737989	.	C	G	173.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.311;DP=95;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=1.02;SOR=0.33	GT:AD:DP:GQ:PL	0/1:11,10:21:99:184,0,259	5	0	1	0
chr1	54139645	54139645	-	GC	exonic	CDCP2	.	frameshift insertion	CDCP2:NM_201546:exon5:c.1224_1225insGC:p.M409Afs*2	.	548	301	299	84	290	757	0.436857	.	.	.	2812811	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0055	0.0015	0.0036	0.0001	0	0.0091	0.0132	0.0016	0.0010373	27	26028	rs76608277	0.0037	0.0037	0.0037	0.0037	0.0127	0.0037	0.0036	0.0103	0.0095	0.0013	0.0030	0.0060	2.561e-05	0.0002	0.0127	0.0042	0.0041	0.0014	0.0052	0.0045	0.0058	0.0046	0.0083	0.0048	0.0047	0.0076	0.0073	0.0016	0.0559	0.0066	0.0113	0.0002	0.0004	0.0105	0.0083	0.0043	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	9147.08	109	chr1	54139645	.	T	TGC	9147.08	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.402;DP=474;ExcessHet=1.383;FS=2.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.98;ReadPosRankSum=1.04;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,47:78:99:.:.:3011,838,719:.	5	0	1	0
chr1	54616167	54616167	T	C	exonic	FAM151A	.	nonsynonymous SNV	FAM151A:NM_176782:exon3:c.A268G:p.I90V	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00328949506701	0.0004	0.000399361	0.0005	0.0002	0.0002	0	0	0.0008	0	0.0003	0.0004916	76	154602	rs201533192	0.0004	0.0004	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	0.0003	0.0003	0.0049	0	3.745e-05	0.0033	0.0003	0.0009	0.0004	0.0005	0.0005	0.0005	0.0004	0.0010	0.0004	0.0003	0.0004	0.0003	0.0001	0	0.0003	0.0058	0	0	0	0.0005	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.323517	0.04088	N	1.563150	0.973869	0.25523	N	0.09	0.08384	N	1.67	0.27331	T	0.64	0.02898	N	0.043	0.04547	-1.0440	0.16118	T	0.030	0.12804	T	10	0.0046162903	0.00096	T	0.003289	0.07298	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.14163869746615446	0.14086	0.0630273627958	0.07016	0.244239211082	0.03185	T	6.39E-4	0.00271	T	-0.659959	0.00063	T	-0.829384	0.01273	T	0.00197227359238582	0.00020	T	0.191181	0.03286	T	0.023069086	0.01016	0.02332343	0.00346	0.023069086	0.01016	0.02332343	0.00346	-1.687	0.02195	T	.	.	0.062	0.01233	B	.;.	.;.	-1.785996	0.00162	0.002	0.50290723093388523	0.04358	0.01618	0.05231	N	AEFDBHCI	0.036205	0.04786	N	-1.62459338655568	0.01147	0.049826	-1.66773881427889	0.01287	0.05804186	0.999696233186799	0.41870	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	3.95	-3.93	0.03868	-0.730000	0.05019	-6.487000	0.01385	-1.002000	0.01800	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1325:0.3186:0.1301:0.4188	1.761	0.02812	793	0.45818	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	771.83	36	chr1	54616167	.	T	C	771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.399;SOR=0.802	GT:AD:DP:GQ:PL	0/1:27,34:61:99:782,0,563	5	0	1	0
chr1	67093358	67093358	T	C	exonic	C1orf141	.	nonsynonymous SNV	C1orf141:NM_001276351:exon8:c.A850G:p.M284V	.	445	1073	4	0	0	4	0.00186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00107568892589	0.0020	.	0.0019	0.0007	0.0003	0	0.0011	0.0031	0.0011	0.0005	0.0020375	315	154602	rs142887352	0.0031	0.0031	0.0033	0.0029	0.0038	0.0030	0.0030	0.0037	0.0036	0.0007	0.0004	7.656e-05	2.522e-05	0.0016	0.0005	0.0038	0.0024	0.0004	0.0020	0.0020	0.0021	0.0019	0.0037	0.0018	0.0017	0.0033	0.0031	0.0007	0.0055	0.0008	0	0	0.0008	0	0.0037	0.0014	0	0.547	0.06648	T	0.286	0.21277	T	0.002	0.09854	B	0.002	0.06944	B	0.122267	0.02736	N	1.790730	1	0.08975	N	0.345	0.11182	N	1.69	0.27032	T	-0.19	0.09965	N	0.163	0.17278	-1.0059	0.28186	T	0.010	0.03856	T	9	0.0075131357	0.00171	T	0.001076	0.01239	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.014219254093019978	0.01378	0.0368298656317	0.03901	.	.	.	0.001381	0.00849	T	-0.581228	0.00189	T	-0.60946	0.12029	T	0.000513690383602129	0.00004	T	0.320768	0.06490	T	0.043527372	0.06798	0.073439784	0.15960	0.043527372	0.06798	0.073439784	0.15959	-2.124	0.03688	T	.	.	0.064	0.01934	B	.;.	.;.	-1.335615	0.00409	0.008	0.29263528077271689	0.01543	0.02116	0.06258	N	AEFBI	0.040455	0.06020	N	-1.32128036933849	0.03432	0.153303	-1.40387554005665	0.03213	0.1494155	0.0145373929433582	0.12608	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	0.235	0.235	0.14697	-0.635000	0.05568	-4.887000	0.01941	-2.596000	0.00236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	583	0.69484	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1352.83	39	chr1	67093358	.	T	C	1352.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=313;ExcessHet=0;FS=4.47;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.762;SOR=0.9	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1363,0,1658	5	0	1	0
chr1	74475582	74475582	A	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon3:c.T1037A:p.L346H,LRRC53:NM_001382280:exon4:c.T1133A:p.L378H	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.0133786	0.0040	0.0414	0.0101	0	0	0.0032	0	0.0004	0.0012096	187	154602	rs45557838	0.0024	0.0021	0.0027	0.0021	0.0282	0.0022	0.0022	0.0260	0.0252	0.0282	0.0047	0.0068	0	2.084e-05	0.0113	0.0010	0.0057	0.0006	0.0096	0.0096	0.0101	0.0091	0.0292	0.0092	0.0090	0.0278	0.0273	0.0292	0	0.0082	0.0058	0	0	0.0034	0.0012	0.0095	0	0.0	0.91255	D	0.07	0.43721	T	.	.	.	.	.	.	0.382268	0.13373	N	0.648881	1	0.81001	D	.	.	.	0.71	0.51228	T	-0.38	0.13418	N	0.195	0.21449	-0.9857	0.33663	T	0.090	0.34601	T	7	0.0037481189	0.00070	T	.	.	.	0.032	0.07718	.	.	0.580897126437	0.57760	0.3412029103263562	0.34033	.	.	.	.	.	0.006122	0.05559	T	-0.481311	0.00727	T	-0.440462	0.28757	T	0.0862041396811646	0.10761	T	0.349965	0.07784	T	0.10629314	0.25134	0.17097598	0.39245	0.10629314	0.25133	0.17097598	0.39245	-4.879	0.35498	T	.	.	0.132	0.28406	B	.	.	2.608816	0.33880	19.47	0.97660300965466684	0.35195	0.57992	0.30523	D	AEFI	0.105083	0.21006	N	0.0462076699306813	0.43969	2.679543	0.0700664199592395	0.43053	2.615025	2.11913784501737E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	2.04	0.25787	0.664000	0.24749	1.211000	0.24907	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.997000	0.79791	0.6827:0.0:0.1651:0.1522	4.113	0.09539	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2436.83	186	chr1	74475582	.	A	T	2436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.025;DP=929;ExcessHet=0;FS=1.745;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-2.275;SOR=0.846	GT:AD:DP:GQ:PL	0/1:100,97:197:99:2447,0,2433	5	0	1	0
chr1	77929446	77929446	A	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon8:c.A803C:p.E268A,NEXN:NM_144573:exon9:c.A995C:p.E332A	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	5	1463	52	2	0	56	0.0187793	.	.	.	57079	Premature_ventricular_contraction|Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1CC|Hypertrophic_cardiomyopathy_20|not_provided|not_specified|Cardiovascular_phenotype|Cardiomyopathy	Human_Phenotype_Ontology:HP:0006678,Human_Phenotype_Ontology:HP:0006682,MedGen:C0151636|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0013147,MedGen:C2751084,OMIM:613122,Orphanet:154|MONDO:MONDO:0013477,MedGen:C3151267,OMIM:613876|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.157	.	0.0020	0.00319489	0.0040	0.0013	0.0015	0.0002	0.0071	0.0028	0.0078	0.0125	0.0036222	560	154602	rs201763096	0.0034	0.0034	0.0031	0.0037	0.0129	0.0033	0.0033	0.0123	0.0120	0.0008	0.0016	0.0028	0.0002	0.0056	0.0083	0.0028	0.0036	0.0129	0.0029	0.0029	0.0026	0.0032	0.0128	0.0027	0.0026	0.0103	0.0094	0.0009	0	0.0027	0.0029	0	0.0069	0.0136	0.0031	0.0028	0.0128	0.027	0.49613	D	0.01	0.65728	D	0.0	0.02946	B	0.001	0.04355	B	0.114418	0.19276	N	0.422095	0.999971	0.54805	D	3.075	0.87202	M	-0.37	0.68892	T	-3.02	0.62630	D	0.224	0.26957	-0.4392	0.70757	T	0.303	0.67446	T	10	0.00764665	0.00174	T	.	.	.	0.157	0.40909	.	.	0.859195409393	0.85783	0.11596895215620386	0.11524	0.0493437229553	0.05403	0.471635967493	0.34905	T	0.248366	0.61815	T	-0.362971	0.03965	T	-0.283128	0.46483	T	0.0680656326731404	0.08377	T	0.815918	0.52185	T	0.14080186	0.32471	0.11652214	0.28130	0.15044011	0.34247	0.14946486	0.35288	-6.948	0.53654	T	0.4055947127188136	0.49674	0.113	0.28464	B	.;.;.;.	.;.;.;.	2.750252	0.36045	20.1	0.99232986696001357	0.56278	0.93487	0.58350	D	AEFBI	0.476695	0.52000	N	0.323113173520435	0.57338	3.90062	0.349179188233158	0.58457	4.016375	0.999999650999292	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.723	0.93126	0	.	.	4.98	4.98	0.65679	4.103000	0.57517	3.999000	0.41057	-0.093000	0.16093	1.000000	0.71638	0.997000	0.33255	0.845000	0.39915	1.0:0.0:0.0:0.0	13.199	0.59182	729	0.54495	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005705	0.005051	0.005435	0.007042	0.000000	0.000000	0.006098	0.011364	0.1667	3831.06	36	chr1	77929446	.	A	C	3831.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.12;DP=452;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.741;SOR=0.667	GT:AD:DP:GQ:PL	0/1:75,52:127:99:1339,0,1849	4	0	2	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	338.61	61	chr1	85158757	.	C	G	338.61	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.43;DP=368;ExcessHet=3.1439;FS=172.787;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=0.604;SOR=8.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,12:51:99:.:.:141,0,276:.	1	0	4	1
chr1	86489027	86489027	-	TGAAATTG	exonic	CLCA1	.	frameshift insertion	CLCA1:NM_001285:exon8:c.1214_1215insTGAAATTG:p.L409Kfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2280.79	33	chr1	86489027	.	C	CTGAAATTG	2280.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.873;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.06;ReadPosRankSum=0.677;SOR=0.709	GT:AD:DP:GQ:PL	0/1:34,57:91:99:2291,0,1238	5	0	1	0
chr1	89266553	89266553	G	A	exonic	GBP5	.	nonsynonymous SNV	GBP5:NM_001134486:exon6:c.C661T:p.R221C,GBP5:NM_052942:exon7:c.C661T:p.R221C	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.0646985560628	0.0003	0.000599042	0.0006	0	0.0002	0.0001	0.0002	0.0006	0	0.0015	0.0004722	73	154602	rs377547796	0.0003	0.0003	0.0003	0.0004	0.0021	0.0003	0.0003	0.0014	0.0013	2.993e-05	0.0003	0.0002	0.0004	1.872e-05	0.0021	0.0002	0.0006	0.0016	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0010	0.0009	2.407e-05	0	0.0015	0	0.0002	0	0.0034	0.0003	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.028641	0.25571	N	0.392394	0.995276	0.42618	D	3.865	0.95877	H	-1.92	0.84773	D	-7.01	0.93764	D	0.791	0.78737	0.508	0.90659	D	0.748	0.91398	D	10	0.15756142	0.29649	T	0.064699	0.69357	D	0.603	0.84345	.	.	0.909276104974	0.90836	0.593868576352936	0.59316	.	.	0.532137036324	0.43336	T	0.705845	0.93355	D	-0.0566685	0.43426	T	0.132593	0.79060	D	0.221051357737271	0.21516	T	0.980702	0.93402	D	0.41072348	0.61467	0.37510547	0.62661	0.41072348	0.61468	0.37510547	0.62661	-8.858	0.66778	D	.	.	0.163	0.35951	B	.;.	.;.	3.089721	0.41597	21.4	0.99614701975393216	0.75052	0.75795	0.37130	D	AEFI	0.287876	0.39991	N	0.177053131409131	0.50099	3.203191	-0.0463198942896183	0.37649	2.207321	0.999844539266874	0.43971	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	2.45	0.28953	1.342000	0.33524	-0.929000	0.06890	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.000000	0.00833	0.0913:0.0:0.7401:0.1686	7.319	0.25689	445	0.79730	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain;Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) 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	0.003528	0.000000	0.004076	0.002924	0.000000	0.008621	0.006135	0.000000	0.08333	1115.83	35	chr1	89266553	.	G	A	1115.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.392;DP=260;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.084;SOR=0.495	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1126,0,1062	5	0	1	0
chr1	92291432	92291432	C	T	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon4:c.G271A:p.D91N,GLMN:NM_053274:exon4:c.G271A:p.D91N	Glomuvenous malformations, Autosomal dominant	2	1456	62	2	0	66	0.0221625	.	.	.	281879	GLMN-related_disorder|not_specified|not_provided|Glomuvenous_malformation	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0014	0.00399361	0.0043	0.0007	0.0023	0	0.0006	0.0026	0.01	0.0185	0.0037645	582	154602	rs144577963	0.0024	0.0025	0.0018	0.0031	0.0196	0.0024	0.0023	0.0188	0.0185	0.0008	0.0016	0.0115	5.062e-05	0.0003	0.0167	0.0010	0.0041	0.0196	0.0017	0.0017	0.0016	0.0018	0.0180	0.0015	0.0015	0.0150	0.0138	0.0007	0	0.0016	0.0112	0	9.439e-05	0.0136	0.0010	0.0033	0.0180	0.59	0.05808	T	0.626	0.07292	T	0.92	0.51019	P	0.652	0.52532	P	0.004104	0.34102	N	0.361905	0.995118	0.42550	D	1.27	0.32069	L	0.99	0.41750	T	0.1	0.05810	N	0.206	0.22870	-1.0460	0.15534	T	0.071	0.28969	T	10	0.007840723	0.00178	T	.	.	.	0.107	0.30369	.	.	0.741568591866	0.73925	0.12471307705419836	0.12397	0.140332092331	0.15827	0.491998851299	0.37715	T	0.006118	0.05559	T	-0.573299	0.00211	T	-0.580685	0.14484	T	0.0164571894811833	0.00411	T	0.782822	0.41925	T	0.08475475	0.19631	0.06132504	0.11821	0.08909026	0.20803	0.059703197	0.11248	-4.169	0.26301	T	0.16518105712076733	0.20460	0.099	0.16670	B	.	.	3.129037	0.42274	21.5	0.9978606915748448	0.87219	0.61917	0.31625	D	AEFDGBHCI	0.140246	0.26209	N	0.126214685035754	0.47687	2.991044	0.138291058977657	0.46526	2.89707	0.999371870790072	0.39355	0.656854	0.48797	0	0.382747	0.06278	2	0.67347	0.61138	0	0.636	0.56748	0	.	.	5.86	4.93	0.64394	1.528000	0.35592	4.928000	0.46104	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.7861:0.138:0.0759	9.76	0.39694	590	0.68897	.	.	.	.	.	.	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	0.009567	0.010101	0.002717	0.000000	0.000000	0.008621	0.009146	0.026515	0.08333	834.83	35	chr1	92291432	.	C	T	834.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.459;DP=266;ExcessHet=0;FS=2.974;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-1.114;SOR=0.424	GT:AD:DP:GQ:PL	0/1:54,38:92:99:845,0,1426	5	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1091.96	47	chr1	99884396	.	T	C	1091.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.345;DP=458;ExcessHet=3.1439;FS=166.15;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.53;ReadPosRankSum=0.591;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,17:70:99:0|1:99884396_T_C:206,0,1674:99884396	2	0	4	0
chr1	109197578	109197578	-	A	exonic	ELAPOR1	.	frameshift insertion	ELAPOR1:NM_001284353:exon9:c.1213dupA:p.I405Nfs*22,ELAPOR1:NM_001267048:exon14:c.1966dupA:p.I656Nfs*22,ELAPOR1:NM_001284352:exon15:c.1921dupA:p.I641Nfs*22,ELAPOR1:NM_020775:exon16:c.2227dupA:p.I743Nfs*22	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3000.03	34	chr1	109197578	.	C	CA	3000.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.492;DP=402;ExcessHet=0.4139;FS=1.62;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.46;SOR=0.685	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1729,0,2055	4	0	2	0
chr1	109296879	109296879	C	T	exonic	MYBPHL	.	nonsynonymous SNV	MYBPHL:NM_001010985:exon5:c.G634A:p.G212S,MYBPHL:NM_001265613:exon5:c.G565A:p.G189S	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.190070852751	0.0002	0.000199681	0.0004	0	0.0003	0	0	0.0005	0	0.0008	0.0001921	5	26028	rs140827712	0.0003	0.0003	0.0003	0.0003	0.0038	0.0003	0.0002	0.0026	0.0022	2.987e-05	0.0002	0	2.519e-05	0	0.0038	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0001	0.0010	0.0002	0.0001	0.0004	0.0003	0	0	0.0002	0	0	0	0	0.0004	0	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999819	0.49394	D	3.72	0.94773	H	0.08	0.61559	T	-5.85	0.88495	D	0.581	0.60241	-0.1360	0.79261	T	0.370	0.72963	T	9	0.3620591	0.52810	T	0.190071	0.86102	D	0.528	0.80067	.	.	0.896085941692	0.89505	0.47216995120068683	0.47135	0.623771184551	0.56604	0.58106136322	0.50235	T	0.148583	0.48720	T	-0.164479	0.26074	T	-0.0945439	0.63816	T	0.390572978037952	0.28586	T	0.991072	0.97257	D	0.7022109	0.78177	0.76681715	0.86228	0.7022109	0.78179	0.76681715	0.86229	-9.856	0.73045	D	.	.	0.534	0.66081	A	.	.	4.297093	0.65585	24.8	0.99849773673670417	0.92925	0.98765	0.86563	D	AEFDBI	0.823163	0.74333	D	0.682712693359012	0.78499	6.884157	0.567840226701742	0.72646	5.843025	0.999999999206493	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.91	4.0	0.45673	5.802000	0.68783	4.051000	0.41508	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.981000	0.58702	0.168:0.832:0.0:0.0	12.496	0.55269	644	0.63734	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	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.1667	4845.06	42	chr1	109296879	.	C	T	4845.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.83;DP=536;ExcessHet=0.4139;FS=1.239;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.08;SOR=0.771	GT:AD:DP:GQ:PL	0/1:84,104:188:99:2889,0,1988	4	0	2	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	95.91	74	chr1	109508616	.	G	C	95.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.831;DP=465;ExcessHet=0;FS=105.96;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,12:104:99:0|1:109508616_G_C:103,0,3639:109508616	2	0	1	3
chr1	109508617	109508617	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A296G:p.N99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00377047473703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	2.726e-06	1.377e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.023848	0.26367	N	0.283710	0.744098	0.29705	N	-1.225	0.00812	N	4.52	0.01997	T	0.92	0.01573	N	0.044	0.04072	-0.9142	0.46325	T	0.001	0.00318	T	10	0.027937263	0.00931	T	0.00377	0.08775	T	0.152	0.39956	0.237	0.16760	0.21174354426	0.20776	0.18114392568070153	0.18033	0.765883629124	0.64500	0.483428955078	0.36529	T	0.005866	0.05316	T	-0.395562	0.02475	T	-0.805974	0.01758	T	0.0602567331267085	0.07209	T	0.826617	0.49005	T	0.038544018	0.05153	0.047732275	0.06941	0.038544018	0.05153	0.047732275	0.06940	-0.373	0.00511	T	.	.	0.064	0.01884	B	.;.	.;.	1.840698	0.23383	16.00	0.57174240635056761	0.05711	0.18455	0.20267	N	AEFBCI	0.212306	0.33801	N	-0.740697034335553	0.14888	0.7454824	-0.519573181039383	0.21622	1.170563	0.989457814758624	0.31831	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	4.99	0.65942	-0.133000	0.10430	2.868000	0.35247	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	1.000000	0.97212	0.0:0.0899:0.1832:0.7269	5.179	0.14477	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	86.83	37	chr1	109508617	.	T	C	86.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.799;DP=330;ExcessHet=0;FS=46.245;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.89;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,12:106:97:0|1:109508616_G_C:97,0,3682:109508616	5	0	1	0
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	86.83	37	chr1	109508618	.	T	C	86.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.281;DP=292;ExcessHet=0;FS=46.245;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.76;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,12:106:97:0|1:109508616_G_C:97,0,3682:109508616	5	0	1	0
chr1	111319364	111319364	T	C	exonic	CHIA	.	nonsynonymous SNV	CHIA:NM_001258002:exon7:c.T590C:p.M197T,CHIA:NM_021797:exon8:c.T749C:p.M250T,CHIA:NM_001040623:exon9:c.T590C:p.M197T,CHIA:NM_001258003:exon9:c.T749C:p.M250T,CHIA:NM_001258001:exon10:c.T749C:p.M250T,CHIA:NM_001258005:exon10:c.T590C:p.M197T,CHIA:NM_001258004:exon11:c.T590C:p.M197T,CHIA:NM_201653:exon11:c.T1073C:p.M358T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0134561446403	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867998770	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0003	1.99e-06	1.28e-06	6.094e-05	2.522e-05	2.987e-05	0	0	0	0	0.0003	3.597e-06	0	0	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.946	0.53363	P	0.91	0.64641	D	0.000019	0.62929	N	0.064020	0.997536	0.43968	D	3.35	0.91085	M	2.98	0.09356	T	-4.82	0.82700	D	0.698	0.70790	-0.8604	0.51234	T	0.090	0.34491	T	10	0.9344397	0.92777	D	0.013456	0.32880	T	0.307	0.62838	0.855	0.95491	0.351614576976	0.34778	0.8600486123024969	0.85968	0.219014460907	0.24440	0.497991591692	0.38548	T	0.301749	0.67418	T	0.175149	0.71595	D	0.0138125	0.71229	D	0.99208128452301	0.82482	D	0.824517	0.48860	T	0.9339531	0.94634	0.88346624	0.93805	0.9339531	0.94635	0.88346624	0.93806	-9.723	0.72237	D	.	.	0.485	0.70787	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.345171	0.46112	22.2	0.99240396778574913	0.56533	0.90221	0.51227	D	AEFDBHCI	0.632233	0.61292	D	0.770955100038875	0.84262	8.238801	0.670685777687199	0.80159	7.237324	0.992614966423781	0.32904	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.278000	0.58741	2.877000	0.35304	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.0:0.0:1.0	12.874	0.57372	828	0.39726	Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.;Glycoside hydrolase family 18, catalytic domain|Chitinase II;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1287.06	36	chr1	111319364	.	T	C	1287.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.672;DP=299;ExcessHet=0.4139;FS=13.075;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.14;SOR=0.219	GT:AD:DP:GQ:PL	0/1:46,25:71:99:606,0,1206	4	0	2	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	552.06	35	chr1	112913901	.	C	G	552.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.084;DP=376;ExcessHet=0.4139;FS=63.697;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=1.74;SOR=6.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,19:96:99:.:.:284,0,1200:.	4	0	2	0
chr1	146972879	146972879	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon17:c.A1720G:p.K574E	.	427	1073	20	2	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.00499201	0.0046	0.0009	0.0019	0.0019	0.0004	0.0040	0.0095	0.0126	0.0032535	503	154602	rs587713092	0.0030	0.0028	0.0027	0.0034	0.0107	0.0029	0.0029	0.0081	0.0078	0.0006	0.0010	0.0118	0.0005	0.0003	0.0107	0.0026	0.0041	0.0085	0.0022	0.0022	0.0022	0.0022	0.0090	0.0020	0.0019	0.0069	0.0061	0.0004	0.0077	0.0032	0.0098	0.0006	0.0003	0.0068	0.0025	0.0038	0.0090	.	.	.	0.803	0.04029	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.104	0.12770	-0.9100	0.46854	T	0.003	0.01059	T	6	0.0058377385	0.00130	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.011847358659128697	0.01144	.	.	.	.	.	.	.	.	-0.131731	0.31217	T	-0.426999	0.30276	T	0.00499942962845069	0.00054	T	0.662034	0.28021	T	0.08749157	0.20374	0.09260015	0.21830	0.08749157	0.20374	0.09260015	0.21830	-5.829	0.44826	T	.	.	0.202	0.57987	B	.;.;.;.;.	.;.;.;.;.	0.990383	0.13680	10.22	0.94131061147928841	0.24314	0.00402	0.02007	N	AEFI	0.042461	0.06590	N	-0.760218732338179	0.14357	0.7145113	-1.00286275451666	0.09722	0.4853356	1.1612182184111E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	0.962	-0.645	0.10899	0.698000	0.25249	-0.773000	0.07487	-0.741000	0.03665	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5814:0.4186:0.0:0.0	3.593	0.07543	742	0.52873	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	4088.06	34	chr1	146972879	.	A	G	4088.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.23;DP=458;ExcessHet=0.4139;FS=1.871;MLEAC=2;MLEAF=0.167;MQ=52.69;MQRankSum=1.02;QD=13.1;ReadPosRankSum=1.05;SOR=0.823	GT:AD:DP:GQ:PL	0/1:71,76:147:99:2043,0,1822	4	0	2	0
chr1	148566185	148566185	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon24:c.G3166C:p.A1056P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.015627169279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.22998	.	.	.	.	.	.	.	0.14950895	0.28293	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.894111	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.941	0.86011	P	.;.	.;.	0.984565	0.13624	10.15	.	.	.	.	.	.	0.052268	0.09315	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.680000	0.02040	-15.955000	0.00333	-1.793000	0.00635	0.979000	0.35152	0.000000	0.08366	0.002000	0.04165	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	329.19	12	chr1	148566185	.	C	G	329.19	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.999;DP=62;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=39.14;MQRankSum=0.826;QD=13.72;ReadPosRankSum=1.29;SOR=0.43	GT:AD:DP:GQ:PL	0/1:10,2:12:47:47,0,362	4	0	2	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	.	.	.	.	.	.	.	.	0.5	8202.55	266	chr1	149075685	.	C	A	8202.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.61;DP=2144;ExcessHet=11.5949;FS=8.173;MLEAC=6;MLEAF=0.5;MQ=46.31;MQRankSum=-4.83;QD=3.87;ReadPosRankSum=-0.703;SOR=1.392	GT:AD:DP:GQ:PL	0/1:420,51:471:99:206,0,11101	0	0	6	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	281.06	37	chr1	149476000	.	C	A	281.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.47;DP=513;ExcessHet=0.4139;FS=46.526;MLEAC=2;MLEAF=0.167;MQ=31.82;MQRankSum=-2.617;QD=0.91;ReadPosRankSum=-2.349;SOR=5.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,16:147:99:0|1:149475995_C_T:260,0,5358:149475995	4	0	2	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	292.06	37	chr1	149476006	.	G	A	292.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=5.56;DP=538;ExcessHet=0.4139;FS=30.891;MLEAC=2;MLEAF=0.167;MQ=32.15;MQRankSum=-2.299;QD=0.92;ReadPosRankSum=-2.808;SOR=3.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,17:154:99:0|1:149475995_C_T:249,0,5491:149475995	4	0	2	0
chr1	149930961	149930961	G	A	exonic	MTMR11	.	nonsynonymous SNV	MTMR11:NM_181873:exon13:c.C1079T:p.P360L,MTMR11:NM_001145862:exon14:c.C1295T:p.P432L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.181441812018	0.0002	.	9.394e-05	0	0	0	0	0.0002	0	7.751e-05	8.41e-05	13	154602	rs145144126	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	6.241e-05	2.522e-05	3.984e-05	0	0	0	0.0003	0.0002	4.809e-05	0.0001	0.0001	7.713e-05	0.0001	0.0002	6.518e-05	5.328e-05	0.0001	8.878e-05	4.832e-05	0	6.557e-05	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.725	0.94815	H	-4.59	0.97830	D	-7.98	0.96395	D	0.965	0.97535	-0.3786	0.72695	T	0.285	0.65715	T	10	0.95867443	0.95252	D	0.181442	0.85556	D	0.969	0.99622	.	.	0.846503013873	0.84503	0.8339606682179646	0.83355	0.724763160997	0.62413	0.697721481323	0.66815	T	0.83867	0.96217	D	0.376072	0.88455	D	0.598617	0.96981	D	0.989259600639343	0.79502	D	0.941806	0.79148	D	0.8556804	0.87758	0.778134	0.86915	0.8556804	0.87760	0.778134	0.86916	-10.878	0.78984	D	.	.	0.67	0.71734	P	.;.	.;.	5.561439	0.92141	32	0.99892067530536399	0.96589	0.97802	0.77240	D	AEFBI	0.948096	0.95935	D	0.696612190467799	0.79409	7.071807	0.701032097777204	0.82458	7.771721	0.999999999997024	0.74766	0.653281	0.48532	0	0.588066	0.40923	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.16	5.16	0.70563	8.626000	0.90739	11.859000	0.98275	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:1.0:0.0	17.381	0.87294	212	0.91760	.;Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2216.06	33	chr1	149930961	.	G	A	2216.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.65;DP=311;ExcessHet=0.4139;FS=1.213;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-1.047;SOR=0.588	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1226,0,935	4	0	2	0
chr1	150497648	150497648	C	A	exonic	TARS2	.	nonsynonymous SNV	TARS2:NM_001271896:exon6:c.C749A:p.P250H,TARS2:NM_001271895:exon8:c.C893A:p.P298H,TARS2:NM_025150:exon10:c.C1139A:p.P380H	.	431	1088	3	0	0	3	0.00137678	.	.	.	1363700	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0845994468298	.	0.000199681	0.0001	0	8.657e-05	0	0	7.502e-05	0	0.0007	0.0001294	20	154602	rs587721894	8.619e-05	8.619e-05	7.759e-05	9.488e-05	0.0006	7.353e-05	6.903e-05	0.0004	0.0004	2.987e-05	6.708e-05	3.826e-05	0	0	0.0005	5.575e-05	0.0001	0.0006	0.0001	0.0001	0.0001	0.0001	0.0006	8.662e-05	7.254e-05	0.0002	0.0001	2.407e-05	0	0.0004	0	0	0	0	0.0001	0	0.0006	0.126	0.78490	T	0.181	0.52060	T	0.808	0.45299	P	0.8	0.58175	P	0.003238	0.35241	N	0.283792	1	0.81001	D	1.23	0.30720	L	-0.24	0.66834	T	-2.29	0.55983	N	0.377	0.42345	-0.5007	0.68625	T	0.206	0.56444	T	10	0.1548107	0.29193	T	0.084599	0.74360	D	0.201	0.48592	.	.	0.853399124583	0.85198	0.5936698327835616	0.59296	1.21200435668	0.80862	0.281450033188	0.07695	T	0.021994	0.27163	T	-0.254745	0.13523	T	-0.281734	0.46626	T	0.111797794699669	0.13608	T	0.830817	0.49719	T	0.20195986	0.42224	0.22463775	0.47382	0.20195986	0.42224	0.22463775	0.47381	-6.751	0.55078	T	0.09829558216546493	0.07013	0.121	0.24967	B	.;.;.;.	.;.;.;.	3.301499	0.45322	22.1	0.9930505711510057	0.58795	0.73158	0.35789	D	AEFDBI	0.296632	0.40643	N	0.0504239592432192	0.44163	2.695325	0.0138400890027105	0.40356	2.407172	0.00654499659430083	0.11246	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	4.62	0.56946	1.047000	0.29976	3.270000	0.37153	0.596000	0.33519	0.183000	0.24101	0.173000	0.23359	0.947000	0.49155	0.0:0.8555:0.1445:0.0	14.685	0.68655	154	0.93967	Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;.;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic 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	.	.	.	.	.	.	.	.	0.1667	2285.06	35	chr1	150497648	.	C	A	2285.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.48;DP=366;ExcessHet=0.4139;FS=0.499;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.15;SOR=0.665	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1321,0,1298	4	0	2	0
chr1	151814975	151814975	C	T	exonic	RORC	.	nonsynonymous SNV	RORC:NM_001001523:exon4:c.G686A:p.S229N,RORC:NM_005060:exon5:c.G749A:p.S250N	Immunodeficiency 42, Autosomal recessive	416	1101	5	0	0	5	0.00226552	.	.	.	447201	Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency|not_provided	MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.178	0.035382658425	0.0034	0.00239617	0.0035	0.0008	0.0042	0	0.0009	0.0052	0.0011	0.0010	0.0035769	553	154602	rs41263732	0.0045	0.0045	0.0046	0.0044	0.0062	0.0044	0.0044	0.0053	0.0052	0.0011	0.0050	0.0010	0	0.0009	0.0062	0.0054	0.0035	0.0007	0.0036	0.0036	0.0037	0.0035	0.0077	0.0034	0.0033	0.0066	0.0062	0.0008	0	0.0077	0.0009	0	0.0005	0	0.0056	0.0043	0.0010	0.319	0.13610	T	0.562	0.09052	T	0.0	0.02946	B	0.002	0.06944	B	0.491828	0.12048	U	0.708276	0.985251	0.27394	N	0.4	0.12274	N	-3.44	0.94469	D	-0.55	0.16799	N	0.107	0.12770	-0.6230	0.63864	T	0.463	0.79229	T	10	0.006422162	0.00145	T	0.035383	0.56311	D	0.178	0.44724	.	.	0.0675242888579	0.06100	0.2991254456685456	0.29825	0.502364597642	0.48596	0.319736391306	0.13381	T	0.046419	0.27419	T	-0.406512	0.02097	T	-0.352698	0.38896	T	0.00503885002551602	0.00054	T	0.593441	0.21910	T	0.050329994	0.09075	0.043403666	0.05390	0.043574948	0.06814	0.05565613	0.09803	-5.559	0.42847	T	.	.	0.086	0.10497	B	.;.	.;.	1.781456	0.22647	15.71	0.91852323807667569	0.21165	0.47943	0.28096	N	AEFGBI	0.331338	0.43109	N	-0.612297205863135	0.18573	0.9653918	-0.569535625930826	0.20289	1.092451	0.999905428536492	0.45458	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.35	-0.194	0.12590	0.329000	0.19442	0.591000	0.19822	0.599000	0.40250	0.960000	0.33603	0.178000	0.23398	0.923000	0.45890	0.1583:0.5105:0.1396:0.1916	2.431	0.04199	580	0.69689	.;.	.	.	.	.	.	Likely benign	0	0	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	0.009567	0.000000	0.009511	0.011696	0.000000	0.025862	0.006098	0.007576	0.1667	2227.06	36	chr1	151814975	.	C	T	2227.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.633;DP=331;ExcessHet=0.4139;FS=4.448;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=2.8;SOR=0.428	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1108,0,990	4	0	2	0
chr1	152080329	152080329	G	A	exonic	LOC100131107	.	nonsynonymous SNV	LOC100131107:NM_001310142:exon1:c.C479T:p.T160M	.	413	1106	2	1	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987115451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.203e-05	9.195e-05	0.0001	6.729e-05	0.0003	5.53e-05	4.367e-05	0.0001	0.0001	0.0003	0	0	0	0	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	.	.	.	.	.	.	.	.	0.1667	3015.06	39	chr1	152080329	.	G	A	3015.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.31;DP=371;ExcessHet=0.4139;FS=3.083;MLEAC=2;MLEAF=0.167;MQ=55.5;MQRankSum=1.75;QD=14.29;ReadPosRankSum=-0.748;SOR=0.905	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1538,0,1165	4	0	2	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	285.01	227	chr1	152214827	.	A	*	285.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=6;DP=2005;ExcessHet=11.5949;FS=42.868;MLEAC=5;MLEAF=0.417;MQ=27.08;MQRankSum=1.49;QD=0.14;ReadPosRankSum=-4.79;SOR=9.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,55:380:99:0|1:152214821_T_A:1186,0,13290:152214821	1	0	5	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	237.97	217	chr1	152214830	.	C	*	237.97	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.353;DP=1996;ExcessHet=11.5949;FS=43.009;MLEAC=5;MLEAF=0.417;MQ=26.78;MQRankSum=1.21;QD=0.12;ReadPosRankSum=-4.939;SOR=9.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,55:380:99:0|1:152214821_T_A:1186,0,13290:152214821	1	0	5	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	.	.	.	.	.	.	.	.	0.3	1658.67	378	chr1	152219783	.	T	C	1658.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=7.5;DP=2775;ExcessHet=1.383;FS=32.44;MLEAC=3;MLEAF=0.3;MQ=51.93;MQRankSum=-9.252;QD=1.26;ReadPosRankSum=-6.399;SOR=3.92	GT:AD:DP:GQ:PL	0/1:397,64:461:99:826,0,11236	2	0	3	1
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	553.96	86	chr1	153760378	.	C	G	553.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.351;DP=611;ExcessHet=3.1439;FS=310.595;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.594;SOR=10.364	GT:AD:DP:GQ:PL	0/1:58,43:107:99:250,0,529	2	0	4	0
chr1	155309931	155309931	C	T	exonic	FDPS	.	nonsynonymous SNV	FDPS:NM_001135821:exon2:c.C142T:p.R48C,FDPS:NM_002004:exon2:c.C142T:p.R48C	Porokeratosis 9, multiple types	427	1089	5	1	0	7	0.00320366	.	.	.	3208025	FDPS-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0079	0.00499201	0.0046	0.0281	0.0045	0	0.0035	0.0030	0.0051	0.0003	0.0030853	477	154602	rs35362111	0.0023	0.0023	0.0024	0.0021	0.0192	0.0022	0.0022	0.0180	0.0175	0.0192	0.0029	0.0007	0	0.0010	0.0030	0.0020	0.0030	0.0002	0.0066	0.0067	0.0068	0.0065	0.0190	0.0063	0.0062	0.0179	0.0175	0.0190	0	0.0033	0.0014	0	0.0016	0	0.0019	0.0080	0.0002	0.0	0.91255	D	0.01	0.92824	D	1.0	0.90584	D	0.985	0.76457	D	.	.	.	.	0.806336	0.81001	D	2.125	0.59049	M	1.1	0.39050	T	-0.31	0.12099	N	0.682	0.68863	-0.9910	0.32347	T	0.090	0.34628	T	9	0.005872637	0.00131	T	.	.	.	0.193	0.47281	.	.	0.592282861509	0.58905	0.23138498350767142	0.23053	1.16536892638	0.79601	0.583023130894	0.50511	T	0.115176	0.43357	T	-0.401299	0.02270	T	-0.332958	0.41139	T	0.0367789536486905	0.03118	T	0.893011	0.63001	D	0.1941077	0.41148	0.20554064	0.44728	0.2057332	0.42724	0.21557797	0.46151	-5.647	0.43219	T	.	.	0.279	0.51209	B	.;.;.;.	.;.;.;.	4.802974	0.78054	26.8	0.99913485058176965	0.98238	0.71325	0.34964	D	ALL	0.327531	0.42847	N	0.281358203654871	0.55203	3.684616	0.250602851786077	0.52683	3.441574	0.999999995794113	0.74766	0.660085	0.49399	0	0.52208	0.09955	0	0.662677	0.59975	0	0.56214	0.19341	0	.	.	4.03	3.1	0.34780	2.324000	0.43491	4.425000	0.43330	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.79:0.21:0.0	9.797	0.39907	40	0.97949	.;.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.000000	0.08333	459.83	38	chr1	155309931	.	C	T	459.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.16;DP=213;ExcessHet=0;FS=3.812;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.602;SOR=1.739	GT:AD:DP:GQ:PL	0/1:19,14:33:99:470,0,568	5	0	1	0
chr1	155736985	155736985	G	A	exonic	DAP3	.	nonsynonymous SNV	DAP3:NM_001199850:exon11:c.G931A:p.V311I,DAP3:NM_001199851:exon11:c.G910A:p.V304I,DAP3:NM_004632:exon12:c.G1033A:p.V345I,DAP3:NM_033657:exon12:c.G1033A:p.V345I,DAP3:NM_001199849:exon13:c.G1033A:p.V345I	.	429	1075	16	2	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0048	0.00279553	0.0052	0.0019	0.0066	0.0002	0.0014	0.0071	0.0121	0.0022	0.0051552	797	154602	rs41264967	0.0061	0.0061	0.0060	0.0061	0.0189	0.0060	0.0059	0.0160	0.0149	0.0017	0.0054	0.0033	2.52e-05	0.0014	0.0189	0.0069	0.0067	0.0026	0.0050	0.0050	0.0050	0.0049	0.0094	0.0047	0.0046	0.0081	0.0076	0.0014	0	0.0094	0.0035	0	0.0009	0.0102	0.0075	0.0062	0.0019	0.133	0.29029	T	0.073	0.43344	T	0.562	0.38380	P	0.369	0.43514	B	0.000002	0.62929	N	0.059383	0.999979	0.81001	D	2.12	0.58754	M	0.44	0.56609	T	-0.82	0.22508	N	0.144	0.15469	-0.9405	0.42536	T	0.109	0.39509	T	10	0.006095886	0.00137	T	.	.	.	0.078	0.22779	.	.	0.177238962908	0.17366	0.5527289742262145	0.55198	0.285031543082	0.30913	0.424291908741	0.28427	T	0.157525	0.50016	T	-0.475524	0.00786	T	-0.450706	0.27618	T	0.0373678571600398	0.03221	T	0.760924	0.47282	T	0.041589677	0.06152	0.053059533	0.08865	0.041589677	0.06152	0.053059533	0.08864	-3.823	0.26534	T	.	.	0.092	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	3.455295	0.48139	22.6	0.99417193392196113	0.63597	0.95591	0.65334	D	AEFGBI	0.664566	0.63369	D	0.19180980770286	0.50805	3.26717	0.282922501680218	0.54541	3.618891	0.775429456120125	0.23744	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	4.35	0.51454	5.446000	0.66347	7.197000	0.57788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0803:0.0:0.9197:0.0	12.782	0.56859	68	0.97118	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.023098	0.014620	0.050000	0.017241	0.003049	0.015152	0.08333	799.83	34	chr1	155736985	.	G	A	799.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.316;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.39;SOR=0.779	GT:AD:DP:GQ:PL	0/1:34,31:65:99:810,0,918	5	0	1	0
chr1	156540884	156540884	G	A	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon23:c.C2563T:p.R855C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0171337785542	.	.	1.648e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs751001051	2.189e-05	2.257e-05	1.906e-05	2.475e-05	0.0002	1.584e-05	1.356e-05	4.579e-05	3.272e-05	2.988e-05	4.472e-05	0	2.519e-05	0	0.0002	1.529e-05	3.312e-05	9.275e-05	3.287e-05	3.281e-05	1.286e-05	5.378e-05	6.543e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.41e-05	0	6.543e-05	0	0	0	0	2.941e-05	0.0005	0	0.067	0.35918	T	0.086	0.40909	T	0.004	0.12183	B	0.003	0.08700	B	0.000005	0.62929	N	0.060473	0.999999	0.58761	D	1.59	0.40313	L	3.86	0.03624	T	-6.63	0.92173	D	0.273	0.30914	-0.9544	0.40203	T	0.005	0.01506	T	10	0.20674118	0.36946	T	0.017134	0.38702	T	0.134	0.36365	.	.	0.464784125046	0.46103	0.5155700548635259	0.51480	0.21190198105	0.23690	0.329598784447	0.14873	T	0.639952	0.88946	D	-0.28889	0.09748	T	-0.450093	0.27687	T	0.156116523018922	0.17580	T	0.936406	0.76145	D	0.22956409	0.45696	0.18196225	0.41092	0.22956409	0.45696	0.18196225	0.41091	-6.788	0.52470	T	.	.	0.08	0.07793	B	.	.	3.770022	0.54150	23.5	0.9887691027146932	0.47754	0.88576	0.48568	D	AEFGBI	0.280194	0.39407	N	-0.337617487242268	0.27729	1.523771	-0.250088323466795	0.29769	1.670512	0.999187297692322	0.38681	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.02	1.98	0.25351	3.058000	0.49632	1.721000	0.28260	0.676000	0.76740	0.999000	0.42656	0.891000	0.27831	0.988000	0.63387	0.2675:0.0:0.7325:0.0	8.845	0.34325	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	752.83	34	chr1	156540884	.	G	A	752.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.057;DP=228;ExcessHet=0;FS=1.107;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.229;SOR=0.909	GT:AD:DP:GQ:PL	0/1:24,31:55:99:763,0,567	5	0	1	0
chr1	156592443	156592443	G	A	exonic	NAXE	.	nonsynonymous SNV	NAXE:NM_144772:exon3:c.G370A:p.G124S	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.0283766294387	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.021	0.72224	D	0.999	0.90584	D	0.995	0.97372	D	0.000001	0.84330	D	0.055071	1	0.81001	D	4.11	0.97368	H	0.01	0.62459	T	-6.0	0.89534	D	0.749	0.91047	0.070	0.83609	D	0.449	0.78419	T	10	0.9791846	0.97830	D	0.028377	0.51063	D	0.596	0.83965	0.947	0.99346	0.614872044281	0.61176	0.906667750355272	0.90639	1.03750872276	0.75662	0.799868941307	0.81942	T	0.361407	0.72749	T	0.264319	0.79928	D	0.142	0.79669	D	0.998749136924744	0.95037	D	0.997023	0.99122	D	0.8053928	0.84252	0.8010228	0.88334	0.8053928	0.84254	0.8010228	0.88334	-13.296	0.90545	D	0.8099990767953753	0.88513	0.889	0.93356	P	.;.;.	.;.;.	5.798732	0.93603	33	0.99850772674769828	0.93013	0.98500	0.83437	D	AEFDGBHCI	0.962489	0.98410	D	0.866115434507685	0.90005	10.21169	0.764105845867877	0.87208	9.14318	0.999999999999999	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.41	4.41	0.52588	9.878000	0.98493	11.661000	0.93987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	15.954	0.79660	716	0.55970	YjeF N-terminal domain|YjeF N-terminal domain;YjeF N-terminal domain|YjeF N-terminal domain|YjeF N-terminal domain|YjeF N-terminal domain;YjeF N-terminal domain|YjeF N-terminal domain|YjeF N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	648.83	39	chr1	156592443	.	G	A	648.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.955;DP=238;ExcessHet=0;FS=5.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.368;SOR=0.551	GT:AD:DP:GQ:PL	0/1:27,24:51:99:659,0,793	5	0	1	0
chr1	156963227	156963227	G	C	exonic	ARHGEF11	.	nonsynonymous SNV	ARHGEF11:NM_014784:exon12:c.C996G:p.F332L,ARHGEF11:NM_001377418:exon13:c.C1104G:p.F368L,ARHGEF11:NM_001377419:exon13:c.C1116G:p.F372L,ARHGEF11:NM_198236:exon13:c.C1116G:p.F372L	.	420	1101	1	0	0	1	0.000453926	.	.	.	2334275	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.0213213869751	0.0009	0.000399361	0.0009	0	0.0008	0	0	0.0012	0	0.0014	0.0007891	122	154602	rs145077102	0.0005	0.0005	0.0005	0.0006	0.0010	0.0005	0.0005	0.0009	0.0008	8.961e-05	0.0009	0.0059	0	0	0.0010	0.0004	0.0008	0.0010	0.0006	0.0006	0.0005	0.0006	0.0015	0.0005	0.0005	0.0007	0.0005	0.0002	0	0.0004	0.0063	0	0	0	0.0007	0.0005	0.0015	0.433	0.09458	T	0.283	0.21478	T	0.004	0.24734	B	0.017	0.27960	B	0.000018	0.62929	D	0.000000	0.998479	0.48800	D	1.71	0.44315	L	-1.44	0.80815	T	-0.55	0.16799	N	0.604	0.63289	-0.9163	0.46050	T	0.168	0.50681	T	10	0.015892506	0.00334	T	0.021321	0.44070	T	0.309	0.63055	0.464	0.53404	0.819853981479	0.81815	0.40525851908553834	0.40441	0.491495775432	0.47841	0.771522641182	0.77652	T	0.069964	0.33842	T	-0.227283	0.17011	T	-0.144805	0.59700	T	0.0196017559602079	0.00663	T	0.876112	0.58827	D	0.21627298	0.44082	0.122301	0.29501	0.21627298	0.44082	0.122301	0.29500	-8.122	0.62310	D	.	.	0.763	0.75626	P	.;.	.;.	3.247352	0.44358	21.9	0.98218060155735165	0.39272	0.95800	0.66207	D	AEFBI	0.250109	0.37021	N	-0.280308202052025	0.29909	1.662864	-0.110664714664103	0.34960	2.016917	0.999995358881223	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	3.37	0.37692	2.707000	0.46812	5.779000	0.49792	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0721:0.1313:0.7966:0.0	10.832	0.45869	516	0.74704	.;Regulator of G protein signalling-like domain|RGS domain|RGS domain|Rho guanine nucleotide exchange factor 11, RGS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	450.83	33	chr1	156963227	.	G	C	450.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.558;DP=218;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.308;SOR=0.939	GT:AD:DP:GQ:PL	0/1:30,19:49:99:461,0,813	5	0	1	0
chr1	157769983	157769983	G	A	exonic	FCRL2	.	nonsynonymous SNV	FCRL2:NM_001159488:exon4:c.C478T:p.P160S,FCRL2:NM_030764:exon4:c.C478T:p.P160S	.	429	1040	53	0	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0011	0.00379393	0.0036	0.0003	0.0010	0	0.0002	0.0023	0.0044	0.0159	0.0032535	503	154602	rs148305794	0.0023	0.0023	0.0018	0.0028	0.0173	0.0022	0.0022	0.0166	0.0163	0.0002	0.0008	0.0065	7.557e-05	0.0001	0.0116	0.0013	0.0031	0.0173	0.0018	0.0018	0.0017	0.0019	0.0141	0.0016	0.0015	0.0114	0.0104	0.0004	0	0.0008	0.0049	0.0006	0.0002	0.0136	0.0021	0.0028	0.0141	0.219	0.19023	T	0.236	0.24694	T	0.181	0.29111	B	0.17	0.35299	B	0.579767	0.11155	N	0.723684	1	0.08975	N	0.965	0.23975	L	4.46	0.02102	T	-3.99	0.73893	D	0.253	0.28616	-0.9567	0.39789	T	0.002	0.00556	T	10	0.004002124	0.00077	T	.	.	.	0.021	0.04004	.	.	0.0666544352282	0.05500	0.22119002504482954	0.22034	0.0788043633379	0.08867	0.22887390852	0.01886	T	0.206382	0.56571	T	-0.621286	0.00108	T	-0.652237	0.08797	T	0.0390002034673709	0.03511	T	0.753825	0.37593	T	0.05170669	0.09536	0.093767434	0.22163	0.05170669	0.09535	0.093767434	0.22162	-7.183	0.55359	T	.	.	0.103	0.18456	B	.	.	0.225739	0.06078	2.519	0.87320607582066256	0.17143	0.01626	0.05248	N	AEFGBI	0.054106	0.09809	N	-1.03900198144267	0.07805	0.3638216	-1.1024586985933	0.07653	0.3731175	0.00125850611116476	0.08381	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	0.00667	0.13389	0.027000	0.13512	-0.011000	0.13060	0.618000	0.50648	0.054000	0.21560	0.000000	0.08366	0.007000	0.07825	0.2904:0.1662:0.5434:0.0	4.398	0.10802	760	0.50470	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	0.014602	0.005051	0.013587	0.002924	0.050000	0.008621	0.024390	0.015152	0.08333	998.83	33	chr1	157769983	.	G	A	998.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.705;DP=273;ExcessHet=0;FS=0.761;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.593;SOR=0.82	GT:AD:DP:GQ:PL	0/1:54,44:98:99:1009,0,1423	5	0	1	0
chr1	158547436	158547436	C	T	exonic	OR6Y1	.	nonsynonymous SNV	OR6Y1:NM_001005189:exon1:c.G670A:p.A224T	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0015387751791	0.0010	0.000199681	0.0009	0.0002	0.0003	0	0	0.0014	0.0022	0.0003	0.0008279	128	154602	rs146992928	0.0009	0.0009	0.0008	0.0009	0.0040	0.0008	0.0008	0.0027	0.0023	0.0003	0.0005	0.0040	0	3.744e-05	0.0040	0.0009	0.0012	0.0004	0.0009	0.0009	0.0009	0.0008	0.0012	0.0008	0.0007	0.0010	0.0009	0.0001	0.0252	0.0003	0.0046	0	0.0003	0	0.0012	0.0010	0.0004	0.201	0.20306	T	0.306	0.19972	T	0.056	0.22806	B	0.015	0.17295	B	0.642590	0.10585	N	0.784661	1	0.08975	N	0.16	0.08945	N	8.68	0.00126	T	-0.93	0.24898	N	0.052	0.02366	-1.1191	0.02389	T	0.000	0.00039	T	10	0.0053144097	0.00116	T	0.001539	0.02420	T	0.024	0.04979	.	.	0.154104182512	0.14974	0.08486840661116518	0.08420	0.0189071063277	0.01841	0.204613506794	0.00603	T	0.004171	0.03581	T	-0.692985	0.00040	T	-0.818642	0.01480	T	0.000954631542796552	0.00009	T	0.20398	0.02363	T	0.05890278	0.11908	0.048973188	0.07386	0.05890278	0.11907	0.048973188	0.07385	-4.283	0.27938	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	0.515303	0.08842	5.620	0.90374773179871482	0.19637	0.02112	0.06250	N	AEFI	0.026323	0.01955	N	-0.97067422974725	0.09233	0.4361947	-0.987821153001803	0.10058	0.5042222	1.34243232848879E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	1.16	0.19936	-0.304000	0.08238	-4.572000	0.02089	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5337:0.0:0.4663	7.730	0.27949	598	0.68232	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.001359	0.005882	0.000000	0.008621	0.003049	0.000000	0.1667	4048.06	120	chr1	158547436	.	C	T	4048.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.346;DP=561;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.828;SOR=0.686	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1589,0,1296	4	0	2	0
chr1	159307919	159307919	C	T	exonic	FCER1A	.	nonsynonymous SNV	FCER1A:NM_002001:exon6:c.C761T:p.P254L	.	422	1095	5	0	0	5	0.0022779	.	.	.	706769	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.023	0.00756481039209	0.0015	.	0.0013	0.0002	0.0008	0	0	0.0021	0.0022	0	0.0010867	168	154602	rs143419433	0.0010	0.0010	0.0010	0.0010	0.0032	0.0010	0.0010	0.0021	0.0017	0.0003	0.0009	0.0264	0	0	0.0032	0.0005	0.0029	9.592e-05	0.0014	0.0014	0.0013	0.0015	0.0021	0.0012	0.0012	0.0015	0.0013	0.0002	0	0.0021	0.0323	0	0	0.0068	0.0008	0.0009	0	0.211	0.19569	T	0.0	0.92824	D	0.005	0.12996	B	0.006	0.12133	B	0.036253	0.01815	N	2.264110	1	0.08975	N	2.095	0.58118	M	4.62	0.02616	T	-1.76	0.41618	N	0.148	0.26837	-0.9041	0.47550	T	0.002	0.00676	T	10	0.005096704	0.00110	T	0.007565	0.20060	T	0.023	0.04649	.	.	0.187945064343	0.18414	0.33577782507057036	0.33490	0.0244559344279	0.02484	0.261030852795	0.05014	T	0.236659	0.60418	T	-0.612007	0.00123	T	-0.720705	0.04762	T	0.0151340211177305	0.00329	T	0.587441	0.21491	T	0.035280533	0.04123	0.037323512	0.03361	0.035280533	0.04122	0.037323512	0.03361	-3.556	0.17225	T	.	.	0.100	0.20819	B	.;.	.;.	1.310547	0.17138	12.98	0.89229461913344243	0.18619	0.05196	0.11019	N	AEFDHCIJ	0.087816	0.17805	N	-1.06090899850671	0.07375	0.3424118	-1.09207243728421	0.07855	0.3838161	1.78911533040488E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.08	-0.148	0.12767	-0.368000	0.07597	0.280000	0.16756	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.0:0.5387:0.1676:0.2937	4.238	0.10086	788	0.46569	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.1667	1116.06	21	chr1	159307919	.	C	T	1116.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.234;DP=177;ExcessHet=0.4139;FS=1.075;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.793;SOR=0.495	GT:AD:DP:GQ:PL	0/1:18,13:31:99:368,0,553	4	0	2	0
chr1	159313677	159313677	A	G	exonic	OR10J3	.	nonsynonymous SNV	OR10J3:NM_001004467:exon1:c.T983C:p.M328T	.	428	1093	1	0	0	1	0.000457247	.	.	.	3574136	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0040084188137	7.7e-05	.	5.249e-05	0	0	0	0	9.41e-05	0	0	3.88e-05	6	154602	rs143276088	8.703e-05	8.687e-05	9.546e-05	7.852e-05	0.0003	7.434e-05	6.982e-05	8.396e-05	7.812e-05	0	4.525e-05	0	0	0	0.0003	9.901e-05	0.0002	2.324e-05	4.599e-05	4.596e-05	6.421e-05	2.69e-05	0.0001	2.109e-05	1.527e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.061	0.45530	T	0.01	0.15535	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0	0.06538	N	6.77	0.00491	T	0.03	0.06612	N	0.167	0.17691	-0.9529	0.40468	T	0.000	0.00114	T	9	0.06644368	0.09113	T	0.004008	0.09525	T	0.041	0.10877	.	.	0.0666544352282	0.05500	.	.	0.00661704411499	0.00580	0.36120402813	0.19561	T	8.6E-4	0.00434	T	-0.379614	0.03133	T	-0.584748	0.14124	T	0.122302799492203	0.14653	T	0.184082	0.01896	T	0.5980961	0.72589	0.43925935	0.67284	0.5980961	0.72590	0.43925935	0.67284	-2.271	0.04399	T	.	.	0.116	0.23430	B	.	.	0.579002	0.09474	6.253	0.51363746247472575	0.04549	0.16702	0.19510	N	AEFI	0.035402	0.04548	N	-0.902572681048058	0.10782	0.5169384	-0.892739539607366	0.12265	0.629923	9.2126306216659E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.11	2.94	0.33188	0.703000	0.25321	-0.199000	0.10963	-0.043000	0.17390	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.7809:0.2191:0.0:0.0	7.534	0.26866	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.006098	0.000000	0.1667	2232.06	36	chr1	159313677	.	A	G	2232.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.405;DP=341;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.573;SOR=0.709	GT:AD:DP:GQ:PL	0/1:49,40:89:99:912,0,1362	4	0	2	0
chr1	159535485	159535485	G	C	exonic	OR10J5	.	nonsynonymous SNV	OR10J5:NM_001004469:exon1:c.C523G:p.H175D	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.000927517071217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.980157	0.25132	N	3.07	0.87108	M	8.62	0.00160	T	-8.47	0.97249	D	0.401	0.44187	-0.9482	0.41279	T	0.001	0.00255	T	9	0.48838633	0.60845	T	9.28E-4	0.00911	T	0.098	0.28162	0.411	0.44723	0.684580721633	0.68189	0.22180994193222983	0.22095	0.316640433507	0.33919	0.232837587595	0.02185	T	0.148524	0.48711	T	-0.0884683	0.38329	T	-0.364855	0.37489	T	0.969645202159882	0.68663	D	0.880912	0.59977	D	0.79058975	0.83310	0.65581053	0.79847	0.79058975	0.83311	0.65581053	0.79848	-9.818	0.72815	D	.	.	0.273	0.50645	B	.	.	3.206839	0.43630	21.8	0.9789343211297129	0.36690	0.60581	0.31236	D	AEFBI	0.162032	0.28817	N	0.0628955632937799	0.44737	2.742394	-0.206883303540009	0.31288	1.769295	3.40919712197393E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.91	2.01	0.25568	0.474000	0.21858	0.799000	0.21641	0.618000	0.50648	0.000000	0.06391	0.002000	0.18203	0.408000	0.26961	0.2208:0.0:0.5788:0.2003	3.440	0.07029	866	0.32446	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4787.06	35	chr1	159535485	.	G	C	4787.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.682;DP=546;ExcessHet=0.4139;FS=4.434;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.615;SOR=0.513	GT:AD:DP:GQ:PL	0/1:113,92:205:99:2383,0,3056	4	0	2	0
chr1	159809008	159809008	C	T	exonic	FCRL6	.	stopgain	FCRL6:NM_001004310:exon4:c.C367T:p.R123X,FCRL6:NM_001284217:exon5:c.C388T:p.R130X	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00199681	0.0022	0.0004	0.0013	0.0010	0.0003	0.0023	0.0022	0.0054	0.0021669	335	154602	rs145922130	0.0017	0.0017	0.0015	0.0018	0.0109	0.0016	0.0016	0.0088	0.0080	0.0005	0.0016	0.0006	0.0004	0.0003	0.0109	0.0016	0.0018	0.0047	0.0016	0.0016	0.0018	0.0015	0.0048	0.0015	0.0014	0.0033	0.0028	0.0005	0	0.0014	0.0009	0.0008	0.0004	0.0136	0.0025	0.0009	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.005441	0.01079	N	3.036110	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.233	0.27077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1661	0.25826	T	-0.0104141	0.69657	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant	.;.;.;High	5.646380	0.92777	33	0.94286463566834489	0.24586	0.00465	0.02234	N	AEFDBI	0.039168	0.05650	N	-0.363794316794164	0.26767	1.463456	-0.776061364364325	0.15083	0.7914741	0.019726814935807	0.13189	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.54	-4.25	0.03508	-2.320000	0.01200	-12.792000	0.00500	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.3509:0.2211:0.0:0.428	3.578	0.07491	912	0.21483	.;.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.013587	0.000000	0.000000	0.000000	0.009146	0.000000	0.1667	3593.06	45	chr1	159809008	.	C	T	3593.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.57;DP=429;ExcessHet=0.4139;FS=0.443;MLEAC=2;MLEAF=0.167;MQ=59.98;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.73;SOR=0.651	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1490,0,1499	4	0	2	0
chr1	160750307	160750307	C	T	exonic	SLAMF7	.	nonsynonymous SNV	SLAMF7:NM_001282590:exon3:c.C332T:p.A111V,SLAMF7:NM_001282594:exon3:c.C371T:p.A124V,SLAMF7:NM_001282595:exon3:c.C251T:p.A84V,SLAMF7:NM_001282596:exon3:c.C332T:p.A111V,SLAMF7:NM_001282592:exon4:c.C653T:p.A218V,SLAMF7:NM_021181:exon4:c.C653T:p.A218V	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00830718538986	7.7e-05	.	2.478e-05	0	0	0	0	4.506e-05	0	0	1.94e-05	3	154602	rs143477393	1.505e-05	1.573e-05	1.498e-05	1.513e-05	2.32e-05	9.85e-06	8.42e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	4.969e-05	2.32e-05	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.229	0.35537	T	0.038	0.61642	D	0.952	0.54136	P	0.644	0.52249	P	0.439698	0.04753	N	1.357460	1	0.08975	N	2.085	0.57729	M	0.72	0.50976	T	-1.29	0.34397	N	0.235	0.26475	-1.0496	0.14509	T	0.072	0.29163	T	10	0.112574816	0.21120	T	0.008307	0.22004	T	0.063	0.18251	.	.	0.454518106513	0.45074	0.2247229013101845	0.22387	0.241443768577	0.26671	0.244025886059	0.03165	T	0.204103	0.56278	T	-0.366789	0.03760	T	-0.656986	0.08472	T	0.218775659799576	0.21402	T	0.471653	0.39623	T	0.035910055	0.04316	0.05803807	0.10657	0.035910055	0.04316	0.05803807	0.10656	-5.362	0.44083	T	.	.	0.108	0.26886	B	.;.;.;.	.;.;.;.	1.517562	0.19489	14.29	0.9742030735470123	0.33870	0.08111	0.14079	N	AEFGBCI	0.077961	0.15718	N	-0.563958264991717	0.20048	1.053982	-0.679861937781891	0.17465	0.9287712	0.999998411084667	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.94	1.51	0.22094	0.678000	0.24956	0.320000	0.17174	0.333000	0.19617	0.042000	0.21073	0.000000	0.08366	0.212000	0.22240	0.0:0.6698:0.0:0.3302	7.495	0.26652	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	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1439.06	35	chr1	160750307	.	C	T	1439.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.19;DP=258;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.98;SOR=0.716	GT:AD:DP:GQ:PL	0/1:21,27:48:99:697,0,456	4	0	2	0
chr1	161053284	161053284	T	C	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon2:c.A107G:p.Q36R,ARHGAP30:NM_001287600:exon5:c.A194G:p.Q65R,ARHGAP30:NM_001025598:exon6:c.A638G:p.Q213R,ARHGAP30:NM_181720:exon6:c.A638G:p.Q213R	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00836040635555	0.0036	0.00139776	0.0053	0.0014	0.0013	0	0.0077	0.0081	0.0045	0.0014	0.004987	771	154602	rs139071778	0.0053	0.0053	0.0054	0.0052	0.0062	0.0052	0.0052	0.0061	0.0060	0.0009	0.0012	7.652e-05	0	0.0070	0.0009	0.0062	0.0044	0.0015	0.0034	0.0034	0.0034	0.0035	0.0052	0.0032	0.0031	0.0047	0.0046	0.0010	0	0.0029	0	0	0.0073	0	0.0052	0.0024	0.0006	0.026	0.65419	D	0.098	0.76473	T	0.011	0.15914	B	0.026	0.20792	B	0.000384	0.44960	N	0.149609	0.939524	0.37264	D	1.445	0.36358	L	2.8	0.35775	T	-2.86	0.60188	D	0.297	0.41952	-1.0954	0.04695	T	0.038	0.16505	T	10	0.010070443	0.00225	T	0.00836	0.22130	T	0.045	0.12272	.	.	0.353352923073	0.34951	0.8469040497389935	0.84651	0.67402453772	0.59623	0.494740366936	0.38097	T	0.21516	0.57695	T	-0.484418	0.00697	T	-0.465023	0.26055	T	0.0339646911433421	0.02631	T	0.690331	0.29972	T	0.29369697	0.52334	0.29911172	0.55944	0.29369697	0.52334	0.29911172	0.55943	-8.984	0.67594	D	.	.	0.080	0.23360	B	.;.;.	.;.;.	2.936607	0.39031	20.9	0.99346743022903772	0.60412	0.89424	0.49880	D	AEFDGBCI	0.555297	0.56579	D	-0.151350550850968	0.35176	2.017255	-0.00616668818482429	0.39435	2.338207	0.999936780902352	0.46732	0.67177	0.52595	0	0.702456	0.74545	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	5.27	4.09	0.47038	3.586000	0.53696	2.334000	0.32213	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1031:0.0:0.8969	8.415	0.31827	551	0.72115	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	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.1667	2032.06	48	chr1	161053284	.	T	C	2032.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.331;DP=371;ExcessHet=0.4139;FS=6.797;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=1.86;SOR=0.4	GT:AD:DP:GQ:PL	0/1:70,52:122:99:1105,0,1863	4	0	2	0
chr1	186977737	186977737	A	G	exonic	PLA2G4A	.	nonsynonymous SNV	PLA2G4A:NM_001311193:exon14:c.A1729G:p.I577V,PLA2G4A:NM_024420:exon16:c.A1909G:p.I637V	Phospholipase A2, group IV A, deficiency of (3)	421	1040	59	2	0	63	0.029398	.	.	.	696325	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0077	0.00658946	0.0085	0.0013	0.0057	0	0.0021	0.0110	0.0132	0.0116	0.0085704	1325	154602	rs28395831	0.0091	0.0091	0.0089	0.0093	0.0439	0.0089	0.0089	0.0394	0.0377	0.0025	0.0070	0.0295	5.04e-05	0.0018	0.0439	0.0090	0.0099	0.0127	0.0071	0.0071	0.0072	0.0069	0.0141	0.0067	0.0066	0.0114	0.0104	0.0020	0	0.0071	0.0346	0.0002	0.0014	0.0510	0.0094	0.0109	0.0141	0.892	0.02471	T	0.352	0.17372	T	0.003	0.11197	B	0.026	0.20792	B	0.000250	0.46924	N	0.250277	0.968559	0.38668	D	-0.745	0.01742	N	4.04	0.03121	T	0.39	0.03521	N	0.105	0.08925	-0.9427	0.42185	T	0.003	0.00832	T	10	0.0045812726	0.00095	T	.	.	.	0.035	0.08770	.	.	0.53586618445	0.53237	0.3995844948397593	0.39873	0.482066616854	0.47176	0.437642633915	0.30255	T	0.098935	0.40324	T	-0.626606	0.00100	T	-0.662464	0.08101	T	0.0106937320788063	0.00150	T	0.829517	0.49484	T	0.06799674	0.14775	0.047745768	0.06944	0.06799674	0.14774	0.047745768	0.06944	-3.377	0.14748	T	0.12229267029175715	0.11702	0.064	0.01622	B	.	.	1.949672	0.24767	16.52	0.86608487478827612	0.16651	0.64634	0.32471	D	AEFGBCI	0.157326	0.28282	N	-0.623964233145568	0.18226	0.944563	-0.393162390332354	0.25199	1.384411	0.999985796314232	0.51787	0.627647	0.40530	0	0.670034	0.63936	0	0.618467	0.43123	0	0.657601	0.63696	0	.	.	5.98	3.68	0.41359	3.259000	0.51217	6.863000	0.56768	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.979000	0.57723	0.7827:0.0:0.2173:0.0	8.149	0.30293	897	0.25382	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.041289	0.010101	0.044837	0.084795	0.050000	0.060345	0.024390	0.018939	0.1667	1693.04	33	chr1	186977737	.	A	G	1693.04	.	AC=2;AF=0.167;AN=12;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.22;SOR=1.355	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1713,180,0	5	1	0	0
chr1	201065897	201065897	C	T	exonic	CACNA1S	.	nonsynonymous SNV	CACNA1S:NM_000069:exon22:c.G2794A:p.V932M	Hypokalemic periodic paralysis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	823197	Malignant_hyperthermia,_susceptibility_to,_5|not_provided|Hypokalemic_periodic_paralysis,_type_1|Thyrotoxic_periodic_paralysis,_susceptibility_to,_1	MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423|MedGen:C3661900|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.557	0.0703315784143	0.0002	.	2.54e-05	9.942e-05	0	0.0001	0	1.533e-05	0	0	1.94e-05	3	154602	rs373701906	2.257e-05	2.257e-05	1.361e-05	3.163e-05	0.0004	1.61e-05	1.416e-05	0.0002	0.0002	0.0002	0	0	0.0004	0	0	8.094e-06	0	2.319e-05	3.287e-05	3.283e-05	2.57e-05	4.037e-05	0.0002	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.64	0.05293	T	0.575	0.08654	T	1.0	0.90584	D	0.992	0.80445	D	0.000004	0.62929	D	0.060487	0.999176	0.46249	D	1.54	0.38927	L	-4.85	0.98245	D	0.08	0.09297	N	0.434	0.47301	0.668	0.92767	D	0.890	0.96348	D	10	0.3013562	0.47678	T	0.070332	0.70974	D	0.557	0.81774	.	.	0.883532278865	0.88239	0.7274660362911376	0.72690	0.527081435524	0.50316	0.821050643921	0.85189	D	0.302559	0.74834	T	-0.0536183	0.43898	T	0.00521426	0.70674	D	0.206070688354174	0.20747	T	0.934906	0.75551	D	0.11460588	0.27055	0.13028768	0.31309	0.11460588	0.27054	0.13028768	0.31309	-2.673	0.07079	T	0.07059161214126837	0.02740	0.182	0.39545	B	.;.	.;.	5.239978	0.87964	29.4	0.79951484352974078	0.12976	0.92892	0.56803	D	AEFDBI	0.625397	0.60861	D	-0.0538462581921117	0.39431	2.325167	-0.0273004226895412	0.38486	2.268154	0.733166087904626	0.23085	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.2	3.27	0.36580	4.671000	0.61283	0.016000	0.13516	-0.234000	0.07639	1.000000	0.71638	0.001000	0.17328	0.978000	0.57271	0.1574:0.8426:0.0:0.0	13.533	0.61092	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	.	.	.	.	.	.	.	.	0.08333	1464.83	34	chr1	201065897	.	C	T	1464.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.286;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,58:106:99:1475,0,1004	5	0	1	0
chr1	206611330	206611330	C	T	exonic	EIF2D	.	nonsynonymous SNV	EIF2D:NM_001201478:exon2:c.G101A:p.G34E,EIF2D:NM_006893:exon2:c.G101A:p.G34E	.	427	1091	4	0	0	4	0.00182983	.	.	.	2363876	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0126445680172	.	0.000399361	8.252e-05	0	0.0002	0	0	0.0001	0	6.079e-05	8.41e-05	13	154602	rs543512703	8.482e-05	8.482e-05	7.623e-05	9.351e-05	0.0009	7.209e-05	6.796e-05	0.0003	0.0002	5.974e-05	8.944e-05	0.0002	0	0	0.0009	8.543e-05	0.0001	5.797e-05	0.0001	0.0001	0.0001	9.401e-05	0.0002	7.086e-05	5.744e-05	0.0001	7.895e-05	0	0	0.0001	0	0	0	0.0068	0.0002	0.0005	0	0.03	0.49613	D	1.0	0.21144	T	0.504	0.37219	P	0.231	0.38266	B	0.131988	0.18603	N	0.579646	1	0.08975	N	0.735	0.18861	N	1.19	0.37578	T	-1.3	0.46337	N	0.209	0.28498	-1.0708	0.09238	T	0.062	0.25887	T	10	0.071079016	0.10429	T	0.012645	0.31390	T	0.063	0.18251	0.347	0.34274	0.370789594751	0.36692	0.49960185185159683	0.49881	1.13154514655	0.78636	0.490553021431	0.37515	T	0.029515	0.21131	T	-0.278621	0.10813	T	-0.422661	0.30771	T	0.0698329385354927	0.08628	T	0.89681	0.63970	D	0.5350627	0.69118	0.28055102	0.54031	0.5350627	0.69119	0.28055102	0.54030	-8.881	0.66927	D	.	.	0.114	0.36396	B	.;.;.	.;.;.	3.414825	0.47383	22.4	0.83186706611100192	0.14588	0.43774	0.27172	N	AEFDBCI	0.176067	0.30326	N	-0.294366050166924	0.29365	1.627802	-0.208644079901199	0.31225	1.765107	0.999998754602402	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.99	5.08	0.68373	3.294000	0.51494	5.913000	0.51050	0.599000	0.40250	0.573000	0.27530	1.000000	0.68203	0.998000	0.85391	0.0:0.7225:0.2775:0.0	14.578	0.67855	644	0.63734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1386.83	38	chr1	206611330	.	C	T	1386.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.15;DP=270;ExcessHet=0;FS=3.033;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=0.745;SOR=1.115	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1397,0,784	5	0	1	0
chr1	207337404	207337404	C	T	exonic	CD55	.	nonsynonymous SNV	CD55:NM_000574:exon8:c.C1055T:p.T352I,CD55:NM_001114752:exon8:c.C1055T:p.T352I,CD55:NM_001300902:exon8:c.C1055T:p.T352I,CD55:NM_001300903:exon8:c.C1055T:p.T352I,CD55:NM_001300904:exon8:c.C1055T:p.T352I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00458084933235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.68238	D	0.085	0.49663	T	0.054	0.25173	B	0.011	0.20508	B	0.000693	0.00666	N	5.144430	1	0.08975	N	1.5	0.37844	L	1.18	0.37746	T	-1.1	0.38345	N	0.12	0.19861	-1.0661	0.10293	T	0.053	0.22578	T	10	0.049723476	0.04603	T	0.004581	0.11315	T	0.013	0.01715	0.266	0.21261	0.0762999501168	0.06990	0.04527790815122127	0.04471	0.143199068346	0.16158	0.240885525942	0.02870	T	0.212857	0.57402	T	-0.250017	0.14096	T	-0.596909	0.13072	T	0.224075078964233	0.21665	T	0.688631	0.32905	T	0.02921444	0.02380	0.035161115	0.02715	0.02921444	0.02380	0.035161115	0.02715	-5.627	0.43039	T	.	.	0.112	0.35992	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.308781	0.02580	0.316	0.92934746253661049	0.22501	0.11850	0.16901	N	ALL	0.114807	0.22599	N	-1.63479609484717	0.01100	0.04778038	-1.65641778959889	0.01343	0.0606221	0.999999999932285	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.743671	0.96076	0	0.741806	0.99463	0	.	.	3.21	-1.02	0.09618	-0.573000	0.05966	-0.746000	0.07598	-1.785000	0.00646	0.001000	0.13787	0.000000	0.08366	0.024000	0.12247	0.1724:0.5484:0.1667:0.1126	3.246	0.06396	840	0.37365	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1422.83	38	chr1	207337404	.	C	T	1422.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.889;DP=288;ExcessHet=0;FS=2.042;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.666;SOR=1.022	GT:AD:DP:GQ:PL	0/1:40,50:90:99:1433,0,1114	5	0	1	0
chr1	207645313	207645313	T	G	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon1:c.T80G:p.L27R	.	414	1104	3	1	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0085	0.0081869	0.0035	0.0237	0.0035	0	0	0.0020	0.0077	6.057e-05	0.0033441	517	154602	rs115047031	0.0018	0.0018	0.0019	0.0018	0.0299	0.0018	0.0017	0.0283	0.0277	0.0299	0.0039	0.0209	0	1.873e-05	0.0102	0.0005	0.0049	0.0001	0.0086	0.0086	0.0087	0.0084	0.0243	0.0082	0.0080	0.0230	0.0225	0.0243	0.0252	0.0061	0.0274	0	0	0.0238	0.0009	0.0071	0	0.093	0.31532	T	0.021	0.58089	D	0.993	0.65571	D	0.584	0.50293	P	.	.	.	.	1	0.08975	N	2.085	0.57729	M	1.25	0.36512	T	-1.67	0.39887	N	0.3	0.33904	-1.0558	0.12829	T	0.034	0.14813	T	9	0.0035641193	0.00064	T	.	.	.	0.100	0.28662	.	.	0.0482279557977	0.04254	0.6884055849476864	0.68780	0.204543318638	0.22876	0.263088852167	0.05263	T	0.085301	0.37471	T	-0.606373	0.00133	T	-0.625535	0.10756	T	0.021128718894161	0.00815	T	0.262274	0.04237	T	0.117767535	0.27757	0.16496797	0.38187	0.117767535	0.27757	0.16496797	0.38187	-5.64	0.43156	T	.	.	0.120	0.24633	B	.	.	0.748657	0.11183	7.820	0.74461427635665267	0.10704	0.08259	0.14211	N	ALL	0.052795	0.09455	N	-1.38252017525667	0.02802	0.1242468	-1.62560903815324	0.01507	0.06822721	0.999999999983932	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.578056	0.29568	0	0.618803	0.45993	0	.	.	2.95	-2.42	0.06164	-1.163000	0.03248	-11.718000	0.00581	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.319:0.1067:0.1633:0.4111	0.756	0.00935	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	0	0	0	1	0	0	0	0.024169	0.025253	0.048913	0.023392	0.000000	0.008621	0.000000	0.003788	0.08333	1006.83	33	chr1	207645313	.	T	G	1006.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.408;DP=268;ExcessHet=0;FS=0.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.451;SOR=0.588	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1017,0,1209	5	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	173.87	91	chr1	212100360	.	A	G	173.87	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.325;DP=527;ExcessHet=3.1439;FS=175.263;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=1.86;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,16:86:58:0|1:212100360_A_G:58,0,2702:212100360	2	0	4	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	363.17	83	chr1	212100361	.	C	G	363.17	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-3.042;DP=504;ExcessHet=3.1439;FS=183.176;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=1.97;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,16:86:58:0|1:212100360_A_G:58,0,2702:212100360	0	0	4	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	355.89	85	chr1	212100362	.	C	G	355.89	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-4.123;DP=516;ExcessHet=3.1439;FS=183.176;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=2.19;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,16:86:58:0|1:212100360_A_G:58,0,2702:212100360	2	0	4	0
chr1	214629136	214629136	C	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon8:c.C1159G:p.Q387E	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1209088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0922487292926	.	.	0.0004	0	0.0005	0	0	0.0006	0.0044	0	0.0003169	49	154602	rs202217426	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0006	0.0004	0	0.0005	0.0002	0	0	0.0012	0.0003	0.0004	1.182e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0	0	0.0003	0	0	0	0	0.0004	0	0	0.132	0.26519	T	0.293	0.20811	T	0.899	0.49514	P	0.445	0.45921	B	0.005303	0.32910	N	0.000000	0.991241	0.41342	D	.	.	.	-0.98	0.75789	T	-1.62	0.38924	N	0.436	0.47487	-0.5655	0.66193	T	0.316	0.68540	T	9	0.1676682	0.31274	T	0.092249	0.75857	D	0.211	0.50185	.	.	0.770671146095	0.76857	0.06654154212946409	0.06592	0.352143244232	0.37051	0.417834877968	0.27539	T	0.020472	0.16112	T	-0.256756	0.13283	T	-0.26165	0.48660	T	0.231554344296455	0.22025	T	0.691431	0.30091	T	0.20290327	0.42350	0.18453617	0.41512	0.20290327	0.42350	0.18453617	0.41511	-3.028	0.10486	T	.	.	0.113	0.22171	B	.	.	3.401345	0.47136	22.4	0.99287404925641465	0.58149	0.93842	0.59349	D	AEFBI	0.445440	0.50191	N	0.401635726708322	0.61512	4.353361	0.473233865423708	0.66220	4.924035	0.999996099076368	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.61	5.61	0.85347	3.642000	0.54101	7.614000	0.62028	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8622:0.1378:0.0	15.607	0.76429	885	0.28214	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	627.83	34	chr1	214629136	.	C	G	627.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=203;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=-0.565;SOR=0.576	GT:AD:DP:GQ:PL	0/1:14,23:37:99:638,0,362	5	0	1	0
chr1	222538766	222538766	G	T	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon5:c.C1459A:p.L487M	.	422	1089	11	0	0	11	0.00502513	.	.	.	718673	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.230	.	0.0044	0.00239617	0.0040	0.0010	0.0014	0	0.0109	0.0053	0.0110	0.0012	0.0041203	637	154602	rs116359984	0.0053	0.0053	0.0053	0.0053	0.0060	0.0052	0.0051	0.0059	0.0058	0.0010	0.0021	0.0004	0	0.0102	0.0036	0.0060	0.0038	0.0014	0.0046	0.0046	0.0044	0.0048	0.0060	0.0043	0.0042	0.0055	0.0053	0.0010	0.0022	0.0059	0.0012	0	0.0123	0.0034	0.0060	0.0085	0.0010	0.044	0.41096	D	0.086	0.40909	T	1.0	0.90584	D	0.998	0.88582	D	0.000570	0.43250	D	0.153343	0.992857	0.41762	D	2.335	0.66956	M	2.56	0.13673	T	-1.55	0.37566	N	0.433	0.47208	-1.1730	0.00484	T	0.048	0.20434	T	10	0.014419138	0.00303	T	.	.	.	0.230	0.53062	.	.	0.197625483188	0.19356	0.4017266481056992	0.40088	0.68760950996	0.60391	0.620371103287	0.55782	T	0.00331	0.02718	T	-0.452145	0.01097	T	-0.419223	0.31164	T	0.02550971537922	0.01340	T	0.921108	0.71398	D	0.39438424	0.60342	0.2511849	0.50724	0.39438424	0.60342	0.2511849	0.50723	-9.805	0.72736	D	.	.	0.152	0.33619	B	.	.	4.089281	0.60890	24.3	0.99645716448364385	0.76943	0.98642	0.85044	D	AEFBI	0.826831	0.74624	D	0.569552629591111	0.71279	5.627006	0.543441570618771	0.70943	5.580067	0.120778704780486	0.16876	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	4.43	0.52967	6.394000	0.73153	4.951000	0.46281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.1591:0.0:0.8409:0.0	9.525	0.38325	904	0.23766	Glucose/Sorbosone dehydrogenase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.003788	0.1667	1678.06	35	chr1	222538766	.	G	T	1678.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.72;DP=274;ExcessHet=0.4139;FS=1.408;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.905;SOR=0.547	GT:AD:DP:GQ:PL	0/1:27,30:57:99:775,0,690	4	0	2	0
chr1	223544808	223544808	C	T	exonic	CAPN8	.	nonsynonymous SNV	CAPN8:NM_001143962:exon18:c.G1876A:p.D626N	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0050	0.000998403	0.0046	0.0009	0	0	0.0091	0.0048	0	0.0057	0.0014424	223	154602	rs148756356	0.0059	0.0057	0.0061	0.0057	0.0066	0.0058	0.0058	0.0065	0.0064	0.0009	0.0013	0.0019	0	0.0043	0.0049	0.0066	0.0068	0.0049	0.0031	0.0031	0.0031	0.0031	0.0051	0.0029	0.0028	0.0047	0.0045	0.0013	0	0.0009	0.0003	0.0006	0.0025	0	0.0051	0.0028	0.0044	0.936	0.02217	T	0.661	0.34477	T	0.047	0.21998	B	0.007	0.12992	B	0.030060	0.25365	N	0.412070	0.999944	0.19238	N	0.99	0.25021	L	-0.71	0.72889	T	0.46	0.03140	N	0.31	0.34981	-0.4800	0.69366	T	0.566	0.84239	D	10	0.010028452	0.00225	T	.	.	.	0.087	0.25287	.	.	0.389283895039	0.38539	0.1349808292052133	0.13422	0.001694774052	0.00138	0.34367698431	0.16987	T	0.022709	0.17460	T	-0.552739	0.00281	T	-0.564275	0.15978	T	0.0112632014639345	0.00166	T	0.89781	0.64256	D	0.046484243	0.07787	0.06528926	0.13212	0.046484243	0.07787	0.06528926	0.13212	-2.782	0.08018	T	.	.	0.093	0.13876	B	.;.	.;.	0.877120	0.12500	9.033	0.11339341869995301	0.00168	0.03751	0.09056	N	AEFBI	0.047885	0.08113	N	-0.75702693409183	0.14442	0.7194862	-0.736585495298704	0.16052	0.8473742	1.81554724382571E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	1.85	0.24418	0.568000	0.23326	-1.157000	0.06164	0.599000	0.40250	0.191000	0.24200	0.000000	0.08366	0.041000	0.14368	0.0:0.675:0.1441:0.1808	7.594	0.27203	895	0.25842	EF-Hand 1, calcium-binding site|EF-hand domain;EF-hand domain|EF-Hand 1, calcium-binding site|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	0.002415	0.000000	0.008475	0.004386	0.000000	0.000000	0.000000	0.000000	0.08333	969.83	35	chr1	223544808	.	C	T	969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.203;DP=247;ExcessHet=0;FS=0.912;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-0.835;SOR=0.556	GT:AD:DP:GQ:PL	0/1:29,41:70:99:980,0,606	5	0	1	0
chr1	226637747	226637747	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon7:c.G2557A:p.A853T	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0173868172144	0.0023	0.000399361	0.0015	0.0003	0.0003	0	0.0003	0.0024	0.0024	0.0007	0.0014424	223	154602	rs41314270	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0014	0.0013	0.0003	0.0008	0.0177	0	9.364e-05	0.0019	0.0014	0.0021	0.0007	0.0015	0.0015	0.0015	0.0014	0.0018	0.0013	0.0013	0.0015	0.0014	0.0004	0	0.0016	0.0182	0	0	0	0.0018	0.0009	0.0004	0.048	0.40068	D	0.414	0.14369	T	0.92	0.51019	P	0.387	0.44046	B	0.092522	0.20269	N	0.568424	0.993832	0.23639	N	1.32	0.33002	L	2.29	0.17113	T	-0.45	0.14782	N	0.167	0.17691	-1.0585	0.12134	T	0.030	0.13111	T	10	0.00937894	0.00212	T	0.017387	0.39069	T	0.084	0.24469	.	.	0.339940258815	0.33601	0.6528390791551625	0.65219	1.74234144677	0.90877	0.347114682198	0.17496	T	0.078694	0.35953	T	-0.628511	0.00098	T	-0.700217	0.05814	T	0.016390014010757	0.00407	T	0.190681	0.02037	T	0.048058286	0.08317	0.07443292	0.16281	0.048058286	0.08317	0.07443292	0.16281	-8.011	0.61145	D	.	.	0.125	0.26294	B	.;.	.;.	2.894751	0.38345	20.7	0.99657502510439033	0.77694	0.35454	0.25305	N	ALL	0.082773	0.16763	N	-0.160956999421996	0.34770	1.988708	-0.198855621219282	0.31580	1.78848	0.999999999920005	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659943	0.59835	0	0.714379	0.83352	0	.	.	5.52	3.49	0.39065	0.763000	0.26183	2.719000	0.34297	0.599000	0.40250	0.008000	0.17931	0.992000	0.31684	0.505000	0.29129	0.3214:0.4768:0.0:0.2018	4.004	0.09081	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	685.83	34	chr1	226637747	.	C	T	685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.538;DP=233;ExcessHet=0;FS=5.379;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.651;SOR=0.666	GT:AD:DP:GQ:PL	0/1:25,29:54:99:696,0,551	5	0	1	0
chr1	228211818	228211818	T	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon2:c.T35A:p.F12Y,OBSCN:NM_001271223:exon2:c.T35A:p.F12Y,OBSCN:NM_052843:exon2:c.T35A:p.F12Y	.	1	1505	16	0	0	16	0.00528751	.	.	.	513507	OBSCN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.669	0.0707848724061	0.0041	0.00179712	0.0049	0.0007	0.0019	0	0.0008	0.0075	0.0042	0.0017	0.0034088	527	154602	rs191837710	0.0048	0.0048	0.0050	0.0047	0.0057	0.0047	0.0047	0.0056	0.0055	0.0009	0.0025	0.0016	0	0.0016	0.0031	0.0057	0.0050	0.0010	0.0032	0.0032	0.0036	0.0028	0.0053	0.0030	0.0029	0.0049	0.0047	0.0012	0	0.0029	0.0012	0	0.0008	0.0102	0.0053	0.0052	0.0008	0.093	0.37750	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.997631	0.81001	D	3.065	0.87014	M	-0.71	0.72889	T	-1.75	0.44094	N	0.5	0.53269	0.295	0.87482	D	0.526	0.82341	D	10	0.015575349	0.00327	T	0.070785	0.71095	D	0.669	0.87722	.	.	0.69651886316	0.69390	0.6445437384992927	0.64389	2.2713391689	0.96273	0.861625611782	0.91350	D	0.076308	0.35387	T	-0.2814	0.10520	T	-0.174931	0.56991	T	0.0506998647465366	0.05623	T	0.891311	0.62583	D	0.74401104	0.80523	0.69784164	0.82204	0.8643993	0.88424	0.73808795	0.84521	-11.031	0.79828	D	.	.	0.869	0.80820	P	.;.;.;.;.	.;.;.;.;.	4.077041	0.60617	24.2	0.95827732297069612	0.27928	0.99581	0.97668	D	AEFDBI	0.937412	0.93515	D	0.688474183786011	0.78878	6.960894	0.553368141275699	0.71630	5.684482	0.999999999977286	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	4.76	4.76	0.60189	6.150000	0.71577	7.794000	0.68965	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:0.0:0.0:1.0	14.260	0.65626	506	0.75555	.;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like 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	0.006067	0.005051	0.004076	0.002924	0.000000	0.008621	0.009259	0.007576	0.08333	650.83	95	chr1	228211818	.	T	A	650.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.249;DP=481;ExcessHet=0;FS=1.037;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=0.139;SOR=0.959	GT:AD:DP:GQ:PL	0/1:53,31:84:99:661,0,1379	5	0	1	0
chr1	228372616	228372616	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon94:c.G21838A:p.V7280M,OBSCN:NM_001271223:exon105:c.G24709A:p.V8237M	.	.	.	.	.	.	.	.	.	.	.	2816190	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.223	0.150374910596	0.0011	.	0.0024	0.0003	0	0	0	0.0049	0	0	0.0008085	125	154602	rs201098610	0.0010	0.0010	0.0010	0.0010	0.0006	0.0010	0.0010	0.0006	0.0006	0.0002	0.0001	0.0259	0	0	0.0005	0.0006	0.0018	2.451e-05	0.0008	0.0008	0.0008	0.0007	0.0004	0.0007	0.0006	0.0003	0.0002	0.0001	0	6.541e-05	0.0242	0	0	0.0032	0.0004	0.0010	0	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.96	0.70309	D	.	.	.	.	0.944895	0.27492	N	2.005	0.54552	M	-0.8	0.73845	T	-1.68	0.40082	N	0.259	0.29313	-0.0605	0.80982	T	0.447	0.78294	T	9	0.0067518055	0.00153	T	0.150375	0.83206	D	0.245	0.55201	.	.	0.717077514744	0.71459	0.13334576674131576	0.13258	0.430256033579	0.43280	0.726939201355	0.71059	T	0.040821	0.25655	T	-0.314523	0.07355	T	-0.2651	0.48313	T	0.0485368919579446	0.05239	T	0.888311	0.61778	D	0.21319266	0.43691	0.3029213	0.56323	0.20494328	0.42621	0.29029453	0.55051	-5.77	0.44312	T	.	.	0.527	0.65771	A	.;.;.;.	.;.;.;.	2.492388	0.32161	18.96	0.96378647059859324	0.29610	0.95749	0.65991	D	AEFDBCI	0.727936	0.67612	D	0.466239914903242	0.65131	4.783976	0.44231509970818	0.64224	4.672842	0.999999999989652	0.74766	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.553173	0.17726	1	.	.	5.31	5.31	0.75063	2.813000	0.47701	6.600000	0.56053	0.618000	0.50648	0.947000	0.32937	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	17.153	0.86662	428	0.80967	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	4400.06	47	chr1	228372616	.	G	A	4400.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.739;DP=533;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.481;SOR=0.674	GT:AD:DP:GQ:PL	0/1:85,72:157:99:1835,0,2381	4	0	2	0
chr1	229487612	229487612	G	A	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon10:c.C1196T:p.S399F	.	454	1066	2	0	0	2	0.000937207	0.9767	0.78	.	1566502	NUP133-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.140	.	0.0032	0.00359425	0.0032	0.0007	0.0036	0	0.0042	0.0041	0.0011	0.0026	0.00326	504	154602	rs148628311	0.0038	0.0039	0.0038	0.0038	0.0042	0.0037	0.0037	0.0040	0.0039	0.0005	0.0042	0.0064	0	0.0036	0.0007	0.0041	0.0035	0.0028	0.0032	0.0032	0.0032	0.0031	0.0043	0.0029	0.0028	0.0039	0.0038	0.0008	0.0461	0.0027	0.0058	0	0.0025	0	0.0043	0.0038	0.0029	0.006	0.61437	D	0.011	0.64786	D	0.939	0.52645	P	0.694	0.53938	P	0.001103	0.40219	N	0.322537	0.999976	0.53665	D	2.545	0.74286	M	1.79	0.25509	T	-2.99	0.62151	D	0.584	0.60495	-1.0642	0.10736	T	0.077	0.30676	T	10	0.01160112	0.00253	T	.	.	.	0.140	0.37593	.	.	0.492611691308	0.48895	0.4988645506664313	0.49807	0.339956898807	0.35944	0.485323280096	0.36791	T	0.611824	0.87709	D	-0.404522	0.02162	T	-0.35234	0.38936	T	0.0178107234183086	0.00510	T	0.910909	0.68443	D	0.45119572	0.64116	0.28766996	0.54779	0.45119572	0.64117	0.28766996	0.54779	-7.327	0.56387	T	.	.	0.221	0.45174	B	.	.	5.002757	0.83020	27.9	0.99824543278967448	0.90677	0.97985	0.78645	D	AEFBI	0.482232	0.52319	N	0.540656970622372	0.69516	5.367897	0.533782089713276	0.70276	5.481666	0.083497817527412	0.15930	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.07	4.09	0.47038	3.249000	0.51138	7.196000	0.57786	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1547:0.8453:0.0	13.649	0.61770	884	0.28482	.	.	.	.	.	.	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	0.002520	0.015306	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1252.06	33	chr1	229487612	.	G	A	1252.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.36;DP=208;ExcessHet=0.4139;FS=0.854;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.027;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,18:40:99:.:.:448,0,502:.	4	0	2	0
chr1	230795221	230795221	G	T	exonic	CAPN9	.	nonsynonymous SNV	CAPN9:NM_001319676:exon16:c.G1740T:p.E580D,CAPN9:NM_016452:exon17:c.G1851T:p.E617D,CAPN9:NM_006615:exon18:c.G1929T:p.E643D	.	428	1068	25	1	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0017	0.00279553	0.0034	0.0018	0.0029	0	0	0.0026	0.0079	0.0105	0.0031371	485	154602	rs145939347	0.0025	0.0025	0.0022	0.0028	0.0105	0.0024	0.0024	0.0100	0.0097	0.0013	0.0025	0.0045	2.52e-05	9.369e-05	0.0100	0.0020	0.0030	0.0105	0.0021	0.0021	0.0021	0.0021	0.0087	0.0019	0.0019	0.0066	0.0059	0.0014	0	0.0024	0.0052	0	0	0.0306	0.0022	0.0038	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.782937	0.06665	N	1.088310	1	0.08975	N	-0.605	0.02211	N	-3.33	0.93928	D	-0.06	0.07882	N	0.182	0.19861	-0.5192	0.67944	T	0.342	0.70762	T	10	0.003541261	0.00064	T	.	.	.	0.242	0.54781	0.296	0.26041	0.417081434665	0.41324	0.2824455418245183	0.28157	0.07475473512	0.08389	0.260764181614	0.04982	T	0.010769	0.09688	T	-0.429997	0.01482	T	-0.381043	0.35601	T	0.000777849805756991	0.00007	T	0.732627	0.34815	T	0.042772688	0.06547	0.045840155	0.06257	0.042772688	0.06546	0.045840155	0.06256	-2.435	0.06595	T	.	.	0.068	0.05188	B	.;.;.	.;.;.	0.589088	0.09576	6.350	0.8131300260242581	0.13623	0.04405	0.09992	N	AEFDBI	0.101079	0.20310	N	-1.26662693315687	0.04084	0.1836721	-1.19679423355702	0.05963	0.2856409	0.278984645269827	0.18968	0.486886	0.10167	0	0.59043	0.45803	0	0.586423	0.30347	0	0.613276	0.41899	0	.	.	5.44	-3.06	0.05053	0.083000	0.14718	-2.213000	0.04049	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.1924:0.4374:0.3703:0.0	8.685	0.33396	841	0.37094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012133	0.030928	0.017663	0.000000	0.000000	0.008621	0.003067	0.007634	0.08333	1411.83	33	chr1	230795221	.	G	T	1411.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.67;DP=275;ExcessHet=0;FS=10.536;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.306;SOR=0.206	GT:AD:DP:GQ:PL	0/1:44,56:100:99:1422,0,1287	5	0	1	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	404.03	47	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	404.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.21;DP=481;ExcessHet=0.4139;FS=7.79;MLEAC=2;MLEAF=0.167;MQ=59.54;MQRankSum=0.568;QD=4.59;ReadPosRankSum=0.618;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,9:12:61:0|1:240207647_G_GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:143,0,61:240207647	4	0	2	0
chr1	246764265	246764265	C	T	exonic	SCCPDH	.	nonsynonymous SNV	SCCPDH:NM_016002:exon10:c.C1010T:p.T337M	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0479469666113	.	0.000998403	0.0009	0.0002	0	0	0	2.999e-05	0	0.0063	0.0007438	115	154602	rs555590305	0.0004	0.0004	0.0002	0.0006	0.0059	0.0003	0.0003	0.0055	0.0053	5.979e-05	0	0	0	0	0.0017	9.899e-06	0.0003	0.0059	0.0002	0.0002	0.0001	0.0002	0.0050	0.0001	9.696e-05	0.0034	0.0029	0	0	0	0	0	0	0	1.47e-05	0	0.0050	0.022	0.48642	D	0.017	0.60337	D	0.942	0.52977	P	0.714	0.54635	P	0.000003	0.62929	D	0.139972	0.997624	0.44045	D	2.545	0.74286	M	1.02	0.40749	T	-2.45	0.53577	N	0.496	0.52918	-0.6943	0.60707	T	0.220	0.58306	T	10	0.016170532	0.00340	T	0.047947	0.63152	D	0.220	0.51569	0.449	0.50957	0.709706758388	0.70717	0.6541728864691406	0.65353	0.565556334051	0.52891	0.489663898945	0.37391	T	0.390574	0.75072	T	-0.373786	0.03407	T	-0.306804	0.44002	T	0.127215882653181	0.15122	T	0.767423	0.39577	T	0.04823212	0.08373	0.06935805	0.14604	0.04823212	0.08373	0.06935805	0.14604	-7.142	0.55064	T	.	.	0.148	0.32756	B	.	.	3.855400	0.55878	23.7	0.99847760079353287	0.92750	0.93774	0.59152	D	AEFBI	0.619199	0.60472	D	0.516749143506719	0.68079	5.168207	0.472382858675466	0.66167	4.916874	0.933162161965618	0.27117	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	2.577000	0.45707	2.749000	0.34521	0.599000	0.40250	0.985000	0.35982	0.994000	0.32194	0.008000	0.08271	0.0:0.929:0.0:0.071	14.366	0.66366	776	0.48302	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1778.06	33	chr1	246764265	.	C	T	1778.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.49;DP=262;ExcessHet=0.4139;FS=1.477;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.63;SOR=0.841	GT:AD:DP:GQ:PL	0/1:23,45:68:99:1230,0,479	4	0	2	0
chr1	248324183	248324183	G	-	exonic	OR2M7	.	frameshift deletion	OR2M7:NM_001004691:exon1:c.386delC:p.P129Lfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0006	0	0	0	0	0	0	0.0045	0.0004916	76	154602	rs551166538	0.0003	0.0003	0.0001	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	0	0	0	0	0	0	8.994e-07	0.0002	0.0041	0.0001	0.0001	5.14e-05	0.0002	0.0037	8.66e-05	7.253e-05	0.0024	0.0020	4.812e-05	0	0	0	0	0	0	0	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5025.79	229	chr1	248324182	.	AG	A	5025.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.541;DP=1747;ExcessHet=0;FS=1.751;MLEAC=1;MLEAF=0.083;MQ=59.95;MQRankSum=-1.131;QD=12.53;ReadPosRankSum=-1.916;SOR=0.843	GT:AD:DP:GQ:PL	0/1:226,175:401:99:5036,0,6782	5	0	1	0
chr1	248626521	248626521	A	C	exonic	OR2T11	.	nonsynonymous SNV	OR2T11:NM_001001964:exon1:c.T608G:p.M203R	.	450	1054	16	2	0	20	0.0093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0065	0.00439297	0.0068	0.0011	0.0011	0	0.0019	0.0081	0.0057	0.0143	0.006727	1040	154602	rs75010552	0.0080	0.0080	0.0078	0.0082	0.0130	0.0079	0.0078	0.0124	0.0121	0.0011	0.0014	0.0112	0	0.0031	0.0062	0.0086	0.0069	0.0130	0.0053	0.0054	0.0054	0.0051	0.0110	0.0050	0.0048	0.0086	0.0078	0.0015	0	0.0014	0.0076	0	0.0021	0.0034	0.0086	0.0064	0.0110	.	.	.	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.001684	0.38271	N	0.117293	1	0.08975	N	1.675	0.43121	L	.	.	.	.	.	.	.	.	-0.9871	0.33323	T	0.001	0.00348	T	10	0.007418275	0.00169	T	.	.	.	.	.	.	.	.	.	0.6370600075305525	0.63640	.	.	0.215478181839	0.01065	T	0.014411	0.12276	T	-0.429423	0.01494	T	-0.384485	0.35196	T	0.0921185967970797	0.11467	T	0.710429	0.32156	T	0.7011599	0.78120	0.6567196	0.79899	0.7011599	0.78121	0.6567196	0.79899	-13.632	0.91800	D	.	.	0.188	0.40506	B	.;.	.;.	3.807132	0.54888	23.5	0.97186750377559405	0.32749	0.13359	0.17811	N	AEFGBI	0.076973	0.15498	N	0.0749656430763498	0.45297	2.788596	-0.0880940765303263	0.35882	2.081206	4.07668547973455E-4	0.06860	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.38	3.26	0.36471	1.439000	0.34623	-0.116000	0.11774	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.286000	0.24163	0.828:0.0:0.0:0.172	8.59	0.32843	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008163	0.005102	0.006812	0.002976	0.000000	0.017544	0.006250	0.011628	0.1667	11200.1	180	chr1	248626521	.	A	C	11200.1	.	AC=2;AF=0.167;AN=12;BaseQRankSum=5.5;DP=1708;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.911;SOR=0.693	GT:AD:DP:GQ:PL	0/1:208,196:404:99:5528,0,5422	4	0	2	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	0.08333	1824.83	38	chr2	17515931	.	A	T	1824.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=318;ExcessHet=0;FS=3.437;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-1.263;SOR=1.047	GT:AD:DP:GQ:PL	0/1:49,68:117:99:1835,0,1252	5	0	1	0
chr2	27224375	27224375	C	A	exonic	CAD	.	nonsynonymous SNV	CAD:NM_001306079:exon9:c.C1139A:p.P380H,CAD:NM_004341:exon9:c.C1139A:p.P380H	Epileptic encephalopathy, early infantile, 50, Autosomal recessive	419	1095	8	0	0	8	0.00363967	.	.	.	697514	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.301	0.0849941541355	0.0007	0.000998403	0.0011	0.0002	0.0003	0.0002	0.0002	0.0009	0	0.0041	0.0010026	155	154602	rs146282777	0.0012	0.0012	0.0011	0.0013	0.0033	0.0012	0.0011	0.0030	0.0029	8.961e-05	0.0006	0	0	0.0001	0.0012	0.0012	0.0010	0.0033	0.0007	0.0007	0.0008	0.0007	0.0025	0.0006	0.0006	0.0014	0.0011	0.0002	0	0.0008	0	0.0002	9.411e-05	0	0.0011	0	0.0025	0.536	0.06891	T	0.525	0.10281	T	0.026	0.54666	B	0.03	0.66722	B	0.440703	0.12631	N	0.770682	0.999201	0.22933	N	0	0.06538	N	-4.84	0.98229	D	0.44	0.03243	N	0.229	0.30461	0.365	0.88562	D	0.861	0.95379	D	10	0.0054017305	0.00119	T	0.084994	0.74440	D	0.301	0.62179	.	.	0.690192462999	0.68753	0.37344835213460537	0.37258	0.409586850137	0.41769	0.33887091279	0.16269	T	0.063565	0.32209	T	-0.207817	0.19689	T	-0.121732	0.61661	T	0.0556262940370603	0.06461	T	0.675632	0.28413	T	0.046487126	0.07787	0.042128153	0.04945	0.047580447	0.08154	0.036547616	0.03125	-4.611	0.32310	T	0.1957218579205504	0.25830	0.091	0.20819	B	.;.	.;.	1.027580	0.14072	10.65	0.83613025045060652	0.14822	0.50091	0.28583	D	AEFBI	0.112082	0.22167	N	-0.351943593055048	0.27201	1.490478	-0.297090356241864	0.28194	1.57004	0.994788638627154	0.33799	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	3.21	0.35933	2.214000	0.42493	1.444000	0.26551	0.549000	0.26987	0.023000	0.19925	0.842000	0.27309	0.121000	0.19209	0.1586:0.5006:0.1547:0.1861	1.888	0.03045	255	0.89985	.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	2286.83	34	chr2	27224375	.	C	A	2286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.561;DP=325;ExcessHet=0;FS=0.621;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=1.05;SOR=0.786	GT:AD:DP:GQ:PL	0/1:62,87:149:99:2297,0,1438	5	0	1	0
chr2	27378156	27378156	A	G	exonic	ZNF513	.	nonsynonymous SNV	ZNF513:NM_001201459:exon3:c.T829C:p.C277R,ZNF513:NM_144631:exon4:c.T1015C:p.C339R	.	0	1519	3	0	0	3	0.000986518	.	.	.	15067	not_provided|Retinitis_pigmentosa_58	MedGen:C3661900|MONDO:MONDO:0013328,MedGen:C3150879,OMIM:613617,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.456	0.00885542625113	.	0.000199681	0.0002	0	0	0	0	3.026e-05	0	0.0016	0.000194	30	154602	rs267607182	0.0001	0.0001	7.763e-05	0.0001	0.0011	9.539e-05	9.02e-05	0.0010	0.0009	0	0	0	0	0	0	5.306e-05	3.313e-05	0.0011	6.569e-05	6.563e-05	3.856e-05	9.407e-05	0.0006	3.516e-05	2.616e-05	0.0002	9.011e-05	2.407e-05	0	0.0001	0	0	0	0	5.882e-05	0	0.0006	0.002	0.72154	D	0.036	0.52060	D	0.998	0.73220	D	0.99	0.78936	D	0.000026	0.55875	D	0.000000	0.999978	0.53665	D	1.935	0.51832	L	3.27	0.07024	T	-4.35	0.77143	D	0.881	0.87917	-1.1707	0.00526	T	0.045	0.19152	T	10	0.26555294	0.44052	T	0.008855	0.23342	T	0.456	0.75483	0.465	0.53566	0.588054354842	0.58480	0.9055128563210412	0.90524	0.754250314739	0.63932	0.824181556702	0.85669	D	0.194869	0.55078	T	-0.108768	0.34972	T	0.0304533	0.72306	D	0.32297828533731	0.25942	T	0.675932	0.28448	T	0.84334934	0.86848	0.78957826	0.87619	0.8293228	0.85857	0.7804255	0.87056	-11.071	0.80046	D	.	.	0.959	0.87935	P	.;.	.;.	4.366564	0.67198	25.1	0.99272101969728277	0.57593	0.94664	0.61908	D	AEFDGBHCI	0.767518	0.70336	D	0.62580063200783	0.74810	6.196529	0.626077132717073	0.76840	6.565644	0.999999999764369	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.99	4.99	0.65942	3.351000	0.51947	11.154000	0.87438	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8288:0.1711:0.0:0.0	9.913	0.40586	334	0.86273	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1793.83	35	chr2	27378156	.	A	G	1793.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.162;DP=323;ExcessHet=0;FS=1.347;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=1.62;SOR=0.874	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1804,0,2029	5	0	1	0
chr2	29071387	29071387	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G2875A:p.A959T	.	0	1477	45	0	0	45	0.015005	.	.	.	190306	not_provided|Retinitis_pigmentosa|not_specified|Retinitis_pigmentosa_54	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0021	0.00199681	0.0037	0.0003	0.0017	0	0.0002	0.0033	0.0101	0.0114	0.0032082	496	154602	rs192350796	0.0022	0.0022	0.0018	0.0026	0.0149	0.0021	0.0021	0.0124	0.0114	0.0002	0.0016	0.0419	7.557e-05	1.884e-05	0.0149	0.0006	0.0049	0.0113	0.0017	0.0017	0.0019	0.0016	0.0112	0.0016	0.0015	0.0088	0.0079	0.0002	0	0.0009	0.0354	0	0	0.0034	0.0008	0.0024	0.0112	0.21	0.19639	T	0.042	0.50226	D	0.0	0.02946	B	0.0	0.01387	B	0.059117	0.22349	N	0.470567	1	0.08975	N	.	.	.	2.19	0.18724	T	-0.35	0.12847	N	0.025	0.00485	-1.0499	0.14425	T	0.027	0.11663	T	10	0.0031301677	0.00052	T	.	.	.	0.032	0.07718	.	.	0.0762999501168	0.06990	0.20868877635627958	0.20784	0.0131637018963	0.01267	.	.	.	0.00331	0.02718	T	-0.736029	0.00022	T	-0.819643	0.01459	T	0.00118835454009417	0.00012	T	0.372463	0.08834	T	0.034804296	0.03976	0.04977026	0.07674	0.034804296	0.03976	0.04977026	0.07674	-3.255	0.13164	T	.	.	0.075	0.05491	B	.	.	-0.016922	0.04166	1.003	0.91811588158027524	0.21119	0.28666	0.23616	N	AEFDBI	0.062690	0.12068	N	-1.30519563939344	0.03616	0.1617998	-1.29433697293488	0.04506	0.2127163	0.101484047320148	0.16380	0.497415	0.19182	0	0.573078	0.20572	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.41	-1.3	0.08777	0.679000	0.24971	-0.134000	0.11587	-1.285000	0.01264	0.192000	0.24212	0.000000	0.08366	0.017000	0.10941	0.062:0.325:0.3825:0.2304	5.796	0.17653	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.004076	0.005848	0.000000	0.008621	0.012195	0.015152	0.08333	1756.83	33	chr2	29071387	.	C	T	1756.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.25;DP=347;ExcessHet=0;FS=5.887;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.326;SOR=0.946	GT:AD:DP:GQ:PL	0/1:50,64:114:99:1767,0,1176	5	0	1	0
chr2	43644707	43644707	G	T	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon2:c.G34T:p.D12Y	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0436933000781	.	.	1.048e-05	0	0	0	0	1.996e-05	0	0	6.5e-06	1	154602	rs558946969	7.559e-06	7.525e-06	4.102e-06	1.105e-05	0.0005	4.06e-06	2.97e-06	0.0001	7.578e-05	0	0	0	0	0	0.0005	6.32e-06	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.995	0.67487	D	0.831	0.59664	P	0.000033	0.55875	D	0.114440	0.946789	0.37541	D	2.415	0.69758	M	0.62	0.53302	T	-4.15	0.75297	D	0.778	0.77507	-0.5458	0.66945	T	0.243	0.61107	T	10	0.68986154	0.71788	D	0.043693	0.61115	D	0.236	0.53931	0.426	0.47185	0.359151904892	0.35523	0.3374147879372238	0.33654	0.144387688307	0.16313	0.594457507133	0.52123	T	0.179401	0.53038	T	0.138683	0.68200	D	-0.038568	0.67799	D	0.990137815475464	0.80349	D	0.879712	0.59601	D	0.6302561	0.74312	0.51575536	0.72020	0.6302561	0.74313	0.51575536	0.72021	-9.48	0.70735	D	.	.	0.224	0.45593	B	.	.	4.514617	0.70726	25.6	0.99330031891553094	0.59738	0.91909	0.54526	D	AEFI	0.593353	0.58871	D	0.551117432408735	0.70152	5.459478	0.525881375904064	0.69737	5.403318	0.728489389218857	0.23015	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.4	4.52	0.54797	4.242000	0.58509	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0802:0.0:0.9198:0.0	12.919	0.57616	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	472.06	33	chr2	43644707	.	G	T	472.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.143;DP=152;ExcessHet=0.4139;FS=2.463;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-0.06;SOR=0.374	GT:AD:DP:GQ:PL	0/1:17,14:31:99:253,0,412	4	0	2	0
chr2	43676045	43676045	T	C	exonic	C1GALT1C1L	.	nonsynonymous SNV	C1GALT1C1L:NM_001101330:exon1:c.A278G:p.K93R	.	406	1113	3	0	0	3	0.0013459	.	.	.	2205167	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0014	0.000599042	0.0007	0	0.0005	0	0	0.0011	0.0011	0.0002	0.0007244	112	154602	rs139124904	0.0007	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	0.0001	0.0006	0.0042	0	0	0.0026	0.0007	0.0008	0.0004	0.0005	0.0005	0.0006	0.0004	0.0007	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0007	0.0040	0	0	0.0068	0.0006	0	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	0.021444082	0.00513	T	.	.	.	.	.	.	.	.	.	0.4446345336837162	0.44381	.	.	0.293852090836	0.09487	T	0.05551	0.30028	T	.	.	.	.	.	.	.	.	.	0.90471	0.66491	D	0.081111036	0.18621	0.20556799	0.44732	0.081111036	0.18620	0.20556799	0.44731	-3.889	0.22137	T	.	.	0.087	0.11414	B	.	.	3.004991	0.40166	21.1	0.88668321645987846	0.18159	0.85830	0.45008	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999996518426726	0.74766	0.199473	0.04044	0	0.059962	0.00310	0	0.112256	0.03162	0	0.250985	0.05351	0	0.679347	0.42376	3.14	1.99	0.25423	3.963000	0.56480	0.853000	0.22156	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.947000	0.49155	0.0:0.1223:0.0:0.8777	6.592	0.21847	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	3923.06	132	chr2	43676045	.	T	C	3923.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.55;DP=651;ExcessHet=0.4139;FS=8.678;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.613;SOR=0.389	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1918,0,1625	4	0	2	0
chr2	43712265	43712265	C	A	exonic	PLEKHH2	.	nonsynonymous SNV	PLEKHH2:NM_172069:exon15:c.C2342A:p.S781Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0981664381011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.967	0.56408	D	0.918	0.65394	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.2	0.97819	H	2.1	0.19990	T	-5.31	0.84457	D	0.944	0.95139	-0.4825	0.69277	T	0.205	0.56293	T	10	0.8939389	0.88743	D	0.098166	0.76896	D	0.513	0.79156	0.689	0.82653	0.238705975628	0.23479	0.725655930208177	0.72509	0.15302378806	0.17264	0.786617994308	0.79928	T	0.741963	0.92860	D	0.221723	0.75938	D	0.0807136	0.75625	D	0.999322891235352	0.96966	D	0.957004	0.83719	D	0.91768205	0.93023	0.88099974	0.93632	0.91768205	0.93024	0.88099974	0.93632	-12.842	0.88701	D	.	.	0.932	0.85220	P	.	.	4.955393	0.81888	27.7	0.99473248974541439	0.66472	0.99605	0.97912	D	AEFDGI	0.873919	0.79653	D	0.831529292682164	0.88034	9.428808	0.775038626888925	0.88010	9.424401	0.999999999981248	0.74766	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.16	5.16	0.70563	7.529000	0.80843	7.673000	0.64890	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.634	0.91326	610	0.67008	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	958.83	35	chr2	43712265	.	C	A	958.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.049;DP=257;ExcessHet=0;FS=0.863;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.873;SOR=0.547	GT:AD:DP:GQ:PL	0/1:39,40:79:99:969,0,1015	5	0	1	0
chr2	44338419	44338419	G	C	exonic	PREPL	.	nonsynonymous SNV	PREPL:NM_001042386:exon7:c.C1087G:p.L363V,PREPL:NM_001171613:exon7:c.C820G:p.L274V,PREPL:NM_001171617:exon7:c.C820G:p.L274V,PREPL:NM_001374277:exon7:c.C820G:p.L274V,PREPL:NM_006036:exon7:c.C1087G:p.L363V,PREPL:NM_001171603:exon8:c.C1087G:p.L363V,PREPL:NM_001171606:exon8:c.C1087G:p.L363V,PREPL:NM_001374275:exon8:c.C1087G:p.L363V,PREPL:NM_001374276:exon8:c.C1087G:p.L363V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0187258541385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.24372	T	0.866	0.06427	T	0.716	0.42206	P	0.288	0.40614	B	0.000103	0.50451	D	0.137025	0.985971	0.81001	D	0.75	0.19020	N	1.0	0.41392	T	-0.41	0.16187	N	0.383	0.42541	-0.9720	0.36776	T	0.110	0.39723	T	10	0.2905504	0.46635	T	0.018726	0.40888	T	0.105	0.29889	0.552	0.66856	0.399159426805	0.39527	0.5945990608760422	0.59389	0.0126997293129	0.01221	0.664878547192	0.62107	T	0.024924	0.18739	T	-0.0949127	0.37265	T	-0.374112	0.36408	T	0.6251180768013	0.37416	D	0.855714	0.54589	D	0.10428515	0.24653	0.11058277	0.26664	0.10428515	0.24653	0.11058277	0.26664	-2.68	0.17713	T	0.19564141764541546	0.25816	0.196	0.54190	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.687392	0.35076	19.80	0.93943178941358574	0.23999	0.91054	0.52770	D	AEFBI	0.293903	0.40441	N	0.0682955789052144	0.44988	2.763003	0.175926879175334	0.48533	3.067832	0.993032636375026	0.33060	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	3.275000	0.51342	5.248000	0.48084	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.078	0.93151	840	0.37365	.;.;.;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1620.06	33	chr2	44338419	.	G	C	1620.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.219;DP=221;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.561;SOR=0.629	GT:AD:DP:GQ:PL	0/1:15,38:53:99:996,0,295	4	0	2	0
chr2	45602012	45602012	C	T	exonic	SRBD1	.	nonsynonymous SNV	SRBD1:NM_018079:exon3:c.G152A:p.R51H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00484962598632	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs780524094	4.994e-05	5.062e-05	4.764e-05	5.225e-05	0.0014	4.059e-05	3.734e-05	0.0007	0.0005	0	0.0004	0	2.519e-05	0	0.0014	3.597e-05	6.623e-05	0	0.0003	0.0003	0.0002	0.0004	0.0024	0.0002	0.0002	0.0018	0.0016	0	0	0.0024	0	0	0	0	4.41e-05	0	0	0.064	0.36509	T	0.147	0.32783	T	0.001	0.07471	B	0.001	0.04355	B	0.295409	0.14693	N	0.636972	1	0.08975	N	1.935	0.51832	L	1.85	0.24472	T	-0.86	0.23372	N	0.215	0.24010	-1.0273	0.21331	T	0.031	0.13504	T	10	0.0224711	0.00562	T	0.00485	0.12161	T	0.025	0.05312	.	.	0.130388298395	0.12655	0.17411035605753242	0.17330	0.0134282802055	0.01290	0.297976732254	0.10101	T	0.004241	0.03650	T	-0.523937	0.00417	T	-0.631794	0.10280	T	0.021730531878739	0.00879	T	0.676232	0.28483	T	0.026259007	0.01660	0.023414873	0.00355	0.026259007	0.01660	0.023414873	0.00355	-9.414	0.70323	D	.	.	0.098	0.16143	B	.	.	1.402174	0.18166	13.58	0.9781768301233007	0.36174	0.04601	0.10256	N	AEFDBI	0.043856	0.06984	N	-1.03912065209292	0.07803	0.3637026	-1.00797668343641	0.09609	0.4790541	0.731689129770525	0.23056	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.7	1.78	0.23918	0.306000	0.19030	0.134000	0.15084	-0.172000	0.11096	0.001000	0.13787	0.002000	0.18203	0.392000	0.26603	0.2844:0.5:0.1377:0.0779	4.107	0.09515	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1070.83	34	chr2	45602012	.	C	T	1070.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.955;DP=259;ExcessHet=0;FS=0.796;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.343;SOR=0.871	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1081,0,1003	5	0	1	0
chr2	71133301	71133301	G	A	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon2:c.G493A:p.V165I	.	429	1077	16	0	0	16	0.00737327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00352055539245	0.0022	0.000998403	0.0017	0.0003	0.0017	0.0001	0.0009	0.0025	0.0011	0.0004	0.0018305	283	154602	rs150757204	0.0020	0.0020	0.0019	0.0020	0.0107	0.0019	0.0019	0.0086	0.0078	0.0004	0.0022	0.0012	0.0001	0.0005	0.0107	0.0022	0.0018	0.0005	0.0015	0.0015	0.0016	0.0015	0.0024	0.0014	0.0013	0.0021	0.0020	0.0006	0	0.0018	0.0014	0	0.0003	0	0.0024	0.0028	0.0008	0.235	0.18000	T	0.189	0.28575	T	0.424	0.35452	B	0.09	0.29851	B	0.622136	0.05762	N	1.217970	1	0.08975	N	2.125	0.59049	M	2.93	0.09822	T	-0.25	0.11008	N	0.043	0.01825	-1.0419	0.16741	T	0.028	0.11882	T	10	0.0066148043	0.00150	T	0.003521	0.08000	T	0.155	0.40530	.	.	0.418401263072	0.41457	0.02593647647647041	0.02544	0.0987835696612	0.11157	0.266994297504	0.05752	T	0.00739	0.06799	T	-0.682338	0.00046	T	-0.757834	0.03191	T	0.0200862010769222	0.00709	T	0.573743	0.20563	T	0.035979446	0.04338	0.041145176	0.04610	0.035979446	0.04337	0.041145176	0.04610	-3.796	0.20745	T	.	.	0.079	0.12132	B	.;.	.;.	1.684923	0.21469	15.21	0.98257954481801291	0.39639	0.31448	0.24340	N	AEFGBI	0.100723	0.20246	N	-0.256300679930867	0.30852	1.724281	-0.266832775938537	0.29198	1.633938	0.999999786627001	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.05	4.16	0.48138	0.926000	0.28405	.	.	0.676000	0.76740	0.000000	0.06391	0.156000	0.23222	0.915000	0.45038	0.093:0.0:0.907:0.0	10.848	0.45958	870	0.31527	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.012195	0.011364	0.1667	1800.06	55	chr2	71133301	.	G	A	1800.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.61;DP=290;ExcessHet=0.4139;FS=3.312;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=1.07;SOR=1.039	GT:AD:DP:GQ:PL	0/1:25,38:63:99:1071,0,574	4	0	2	0
chr2	73451431	73451431	G	A	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.G4904A:p.S1635N,ALMS1:NM_015120:exon8:c.G4904A:p.S1635N	Alstrom syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00922312022951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	2.988e-05	0	0	0	0	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.08	0.05542	-1.0839	0.06609	T	0.065	0.26737	T	9	0.07424477	0.11323	T	0.009223	0.24225	T	.	.	.	.	0.119812018005	0.11559	0.1003055847631546	0.09961	.	.	0.264569997787	0.05447	T	0.021342	0.16634	T	-0.288608	0.09777	T	-0.652342	0.08791	T	0.140262804248893	0.16298	T	0.458954	0.13262	T	0.03480869	0.03976	0.11166086	0.26935	0.03480869	0.03976	0.11166086	0.26934	-5.287	0.39814	T	.	.	0.132	0.28377	B	.;.;.	.;.;.	0.829147	0.12004	8.563	0.76058867141275666	0.11317	0.11682	0.16794	N	AEFBHCI	0.028749	0.02589	N	-0.570508811631738	0.19845	1.041823	-0.699490673078022	0.16972	0.9004027	0.999737935364925	0.42341	0.651	0.46895	0	0.596877	0.49441	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.12	2.31	0.27816	0.099000	0.15047	-2.845000	0.03303	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2232:0.0:0.7768:0.0	6.361	0.20632	492	0.76569	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1113.83	125	chr2	73451431	.	G	A	1113.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=561;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.945;SOR=0.658	GT:AD:DP:GQ:PL	0/1:55,41:96:99:1124,0,1458	5	0	1	0
chr2	79027052	79027052	C	T	exonic	REG3G	.	nonsynonymous SNV	REG3G:NM_001008387:exon4:c.C214T:p.P72S,REG3G:NM_198448:exon4:c.C214T:p.P72S	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00224549870495	7.7e-05	.	0.0002	9.61e-05	0.0003	0	0	0.0003	0.0011	0.0004	0.0002329	36	154602	rs147133557	0.0002	0.0002	0.0001	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	2.987e-05	0.0006	0.0014	0	1.872e-05	0.0003	9.982e-05	0.0006	0.0005	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0014	0.0012	2.405e-05	0	0.0019	0.0026	0	0	0.0068	0.0001	0.0009	0.0002	0.824	0.02928	T	0.53	0.10103	T	0.048	0.22112	B	0.042	0.24114	B	0.425749	0.12813	N	0.704642	1	0.08975	N	1.565	0.39561	L	2.23	0.18083	T	-3.2	0.64710	D	0.091	0.06990	-0.9549	0.40114	T	0.041	0.17742	T	10	0.02315393	0.00598	T	0.002245	0.04260	T	0.093	0.26882	.	.	0.332646915603	0.32870	0.17877598253370122	0.17796	0.0135039036229	0.01299	0.266734719276	0.05719	T	0.014642	0.12428	T	-0.547457	0.00302	T	-0.683611	0.06765	T	0.00890592910144705	0.00111	T	0.586341	0.21412	T	0.05801391	0.11619	0.086168826	0.19945	0.05801391	0.11618	0.086168826	0.19944	-0.951	0.00947	T	.	.	0.157	0.34819	B	.;.	.;.	0.723585	0.10925	7.595	0.77823356600920357	0.12037	0.01269	0.04444	N	AEFI	0.078330	0.15802	N	-0.758868055085046	0.14394	0.7166244	-0.802144101857731	0.14443	0.7547066	1.80544002055677E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.72	1.8	0.24069	-0.521000	0.06331	-6.608000	0.01352	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.597000	0.31313	0.0:0.6351:0.0:0.3649	5.952	0.18489	979	0.04160	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	.	.	.	.	.	.	.	.	0.08333	3642.83	193	chr2	79027052	.	C	T	3642.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.734;DP=999;ExcessHet=0;FS=5.133;MLEAC=1;MLEAF=0.083;MQ=59.36;MQRankSum=1.75;QD=11.79;ReadPosRankSum=1.35;SOR=0.536	GT:AD:DP:GQ:PL	0/1:159,150:309:99:3653,0,4103	5	0	1	0
chr2	79158731	79158731	G	T	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.C115A:p.R39S,REG3A:NM_002580:exon3:c.C115A:p.R39S,REG3A:NM_138937:exon3:c.C115A:p.R39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00112225708441	.	.	2.493e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs141740162	3.437e-06	0.0007	1.366e-06	5.532e-06	3.554e-05	1.01e-06	7.3e-07	9.44e-06	4.62e-06	0	2.28e-05	0	0	0	0	9.017e-07	0	3.554e-05	6.645e-06	0.0009	0	1.361e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.037403	0.24405	N	0.400827	1	0.08975	N	-2.765	0.00026	N	2.64	0.12780	T	3.27	0.00108	N	0.061	0.03502	-0.9351	0.43379	T	0.007	0.02244	T	10	0.08776298	0.15048	T	0.001122	0.01360	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.23763958079538905	0.23677	0.0547631763429	0.06061	0.20862942934	0.00754	T	0.021425	0.16689	T	-0.398869	0.02355	T	-0.810724	0.01649	T	0.0314632799417354	0.02220	T	0.0610939	0.00444	T	0.24203835	0.47127	0.078462504	0.17576	0.24203835	0.47126	0.078462504	0.17575	-1.334	0.01457	T	.	.	0.132	0.28778	B	.;.;.	.;.;.	0.622617	0.09910	6.670	0.71659157753313818	0.09704	0.00024	0.00244	N	AEFGI	0.042367	0.06565	N	-1.53127221375122	0.01647	0.07204684	-1.40102100368093	0.03242	0.1508413	1.10306997856234E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.83	2.66	0.30672	1.142000	0.31152	-0.207000	0.10889	-0.832000	0.02862	0.480000	0.26800	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.2961:0.7039	7.457	0.26440	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	.	.	.	.	.	.	.	.	0.08333	214.83	40	chr2	79158731	.	G	T	214.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=340;ExcessHet=0;FS=12.534;MLEAC=1;MLEAF=0.083;MQ=58.38;MQRankSum=-11.47;QD=1.5;ReadPosRankSum=-4.02;SOR=2.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,16:143:99:0|1:79158731_G_T:225,0,4933:79158731	5	0	1	0
chr2	79158740	79158740	C	G	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.G106C:p.A36P,REG3A:NM_002580:exon3:c.G106C:p.A36P,REG3A:NM_138937:exon3:c.G106C:p.A36P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00119945206927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879246680	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.615e-06	9.867e-05	0	1.355e-05	2.434e-05	0	0	.	.	2.434e-05	0	0	0	0	0	0	0	0	0	0.581	0.05973	T	0.505	0.11004	T	0.0	0.02946	B	0.001	0.04355	B	0.535357	0.11593	N	0.756680	1	0.08975	N	-0.53	0.02533	N	2.42	0.15376	T	2.33	0.00281	N	0.054	0.02759	-0.9463	0.41599	T	0.018	0.07282	T	10	0.027589142	0.00903	T	0.001199	0.01558	T	0.004	0.00165	.	.	0.0716867268079	0.06686	0.33399060644688777	0.33312	0.0611122652635	0.06801	0.238550752401	0.02661	T	0.032509	0.22518	T	-0.424626	0.01599	T	-0.847722	0.00989	T	0.074214801539753	0.09230	T	0.079692	0.00587	T	0.15057418	0.34273	0.08919294	0.20842	0.15057418	0.34272	0.08919294	0.20841	-3.45	0.15738	T	.	.	0.069	0.03336	B	.;.;.	.;.;.	-1.318655	0.00423	0.008	0.77301282109243619	0.11819	0.00151	0.00912	N	AEFGI	0.031644	0.03426	N	-1.79722693943582	0.00552	0.02376501	-1.84703743509883	0.00620	0.02755625	2.8203287188887E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.62	-3.84	0.03976	-1.654000	0.02086	-3.050000	0.03106	-3.544000	0.00077	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0961:0.6064:0.1787:0.1188	6.578	0.21775	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	142.83	40	chr2	79158740	.	C	G	142.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.005;DP=312;ExcessHet=0;FS=17.611;MLEAC=1;MLEAF=0.083;MQ=58.35;MQRankSum=-11.11;QD=1.14;ReadPosRankSum=-4.521;SOR=3.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,12:125:99:0|1:79158731_G_T:153,0,4529:79158731	5	0	1	0
chr2	85326932	85326932	G	T	exonic	TGOLN2	.	nonsynonymous SNV	TGOLN2:NM_001206841:exon2:c.C800A:p.S267Y,TGOLN2:NM_001368095:exon2:c.C800A:p.S267Y,TGOLN2:NM_001368096:exon2:c.C800A:p.S267Y,TGOLN2:NM_006464:exon2:c.C800A:p.S267Y	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00565292153595	0.0032	0.00319489	0.0048	0.0010	0.0057	0	0.0095	0.0062	0.0045	0.0014	0.0042755	661	154602	rs145218072	0.0049	0.0049	0.0050	0.0048	0.0061	0.0048	0.0048	0.0055	0.0053	0.0010	0.0061	0.0042	0	0.0087	0.0059	0.0052	0.0058	0.0018	0.0043	0.0043	0.0037	0.0049	0.0065	0.0040	0.0039	0.0055	0.0051	0.0014	0.0066	0.0065	0.0043	0	0.0110	0.0068	0.0050	0.0066	0.0010	0.002	0.72154	D	0.022	0.59732	D	0.994	0.66517	D	0.906	0.64351	P	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.65	0.12676	T	-3.48	0.69950	D	0.151	0.28965	-1.0749	0.08369	T	0.040	0.17191	T	9	0.0033238232	0.00057	T	0.005653	0.14621	T	0.019	0.03383	.	.	0.37281450598	0.36888	0.048835434568265536	0.04826	.	.	0.283387959003	0.07970	T	0.184947	0.53777	T	-0.557835	0.00261	T	-0.570062	0.15444	T	0.0397295307880315	0.03642	T	0.594241	0.21993	T	0.1014517	0.23964	0.13045268	0.31346	0.1014517	0.23963	0.13045268	0.31345	-7.26	0.55911	T	.	.	0.242	0.48746	B	.;.;.;.;.	.;.;.;.;.	2.627694	0.34164	19.55	0.9889654910202933	0.48109	0.05494	0.11380	N	ALL	0.067764	0.13336	N	-0.250207697878437	0.31094	1.740208	-0.490339760362394	0.22419	1.21756	0.999999999998003	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	3.86	0.869	0.18233	1.281000	0.32819	5.500000	0.48770	0.665000	0.62972	0.010000	0.18352	0.902000	0.27988	0.060000	0.15972	0.2129:0.0:0.6057:0.1814	4.486	0.11201	894	0.26265	.;.;.;.;.	.	.	.	.	rs145218072	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.005435	0.000000	0.000000	0.008621	0.009146	0.003788	0.08333	2612.83	35	chr2	85326932	.	G	T	2612.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.22;DP=547;ExcessHet=0;FS=0.612;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-1.166;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,70:165:99:0|1:85326932_G_T:2623,0,3701:85326932	5	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	1178.03	33	chr2	94876587	.	C	A	1178.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.141;DP=783;ExcessHet=1.383;FS=13.178;MLEAC=3;MLEAF=0.25;MQ=58.15;MQRankSum=-15.1;QD=1.77;ReadPosRankSum=-2.696;SOR=2.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,25:230:99:0|1:94876587_C_A:433,0,8456:94876587	3	0	3	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	196.02	224	chr2	94876599	.	C	T	196.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.786;DP=1036;ExcessHet=1.383;FS=11.144;MLEAC=3;MLEAF=0.25;MQ=57.94;MQRankSum=-14;QD=0.26;ReadPosRankSum=-1.332;SOR=1.929	GT:AD:DP:GQ:PL	0/1:226,26:252:99:121,0,9373	3	0	3	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5181.55	272	chr2	94876618	.	C	G	5181.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.193;DP=1614;ExcessHet=11.5949;FS=2.864;MLEAC=6;MLEAF=0.5;MQ=57.84;MQRankSum=-15.73;QD=3.22;ReadPosRankSum=-1.665;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,53:299:99:0|1:94876587_C_A:1485,0,10170:94876587	0	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	7558.55	298	chr2	94876632	.	C	T	7558.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.508;DP=1828;ExcessHet=11.5949;FS=0.73;MLEAC=6;MLEAF=0.5;MQ=57.29;MQRankSum=-16.62;QD=4.26;ReadPosRankSum=-0.764;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,65:319:99:0|1:94876587_C_A:1965,0,10455:94876587	0	0	6	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	9541.55	352	chr2	94876671	.	A	G	9541.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.803;DP=2062;ExcessHet=11.5949;FS=2.415;MLEAC=6;MLEAF=0.5;MQ=57.09;MQRankSum=-16.99;QD=4.66;ReadPosRankSum=3.98;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,84:371:99:0|1:94876671_A_G:2630,0,11728:94876671	0	0	6	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	10610.5	352	chr2	94876674	.	G	A	10610.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-5.835;DP=2088;ExcessHet=11.5949;FS=2.361;MLEAC=6;MLEAF=0.5;MQ=57.13;MQRankSum=-18.24;QD=5.17;ReadPosRankSum=4.44;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,84:374:99:0|1:94876671_A_G:2621,0,11796:94876671	0	0	6	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.3333	4172.96	338	chr2	94876731	.	C	T	4172.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.14;DP=1716;ExcessHet=3.1439;FS=6.452;MLEAC=4;MLEAF=0.333;MQ=57.61;MQRankSum=-18.2;QD=3.01;ReadPosRankSum=0.057;SOR=1.338	GT:AD:DP:GQ:PL	0/1:279,57:336:99:1262,0,7443	2	0	4	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1251.18	339	chr2	94876737	.	C	A	1251.18	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.465;DP=1192;ExcessHet=0.4139;FS=7.898;MLEAC=2;MLEAF=0.167;MQ=57.27;MQRankSum=-14.24;QD=1.74;ReadPosRankSum=-1.795;SOR=1.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:295,38:333:99:.:.:129,0,12141:.	4	0	2	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1911.06	335	chr2	94876740	.	A	C	1911.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.83;DP=1191;ExcessHet=0.4139;FS=7.898;MLEAC=2;MLEAF=0.167;MQ=57.29;MQRankSum=-14.55;QD=2.68;ReadPosRankSum=-2.111;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:291,38:331:99:.:.:789,0,11995:.	4	0	2	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	5188.55	176	chr2	95855390	.	T	C	5188.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.46;DP=1041;ExcessHet=11.5949;FS=19.931;MLEAC=6;MLEAF=0.5;MQ=55.8;MQRankSum=-9.318;QD=5.13;ReadPosRankSum=-4.855;SOR=1.975	GT:AD:DP:GQ:PL	0/1:135,47:182:99:1113,0,3473	0	0	6	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	669.03	194	chr2	95855406	.	C	G	669.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.36;DP=1088;ExcessHet=1.383;FS=9.024;MLEAC=3;MLEAF=0.25;MQ=54.13;MQRankSum=-6.884;QD=1.17;ReadPosRankSum=-2.638;SOR=1.47	GT:AD:DP:GQ:PL	0/1:186,22:208:99:121,0,5258	3	0	3	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	11748.5	251	chr2	95855549	.	T	C	11748.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.045;DP=1322;ExcessHet=11.5949;FS=17.003;MLEAC=6;MLEAF=0.5;MQ=44.42;MQRankSum=-8.676;QD=9.11;ReadPosRankSum=-0.118;SOR=1.519	GT:AD:DP:GQ:PL	0/1:122,107:229:99:2560,0,3312	0	0	6	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	8268.55	217	chr2	95855576	.	A	G	8268.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.158;DP=1152;ExcessHet=11.5949;FS=28.673;MLEAC=6;MLEAF=0.5;MQ=46.51;MQRankSum=-8.188;QD=7.42;ReadPosRankSum=-2.232;SOR=2.278	GT:AD:DP:GQ:PL	0/1:120,60:180:99:1575,0,3396	0	0	6	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	.	.	.	.	.	.	.	.	0.4167	1047.61	209	chr2	95855586	.	T	C	1047.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.15;DP=1111;ExcessHet=6.1542;FS=21.641;MLEAC=5;MLEAF=0.417;MQ=47.41;MQRankSum=-5.213;QD=1.15;ReadPosRankSum=-1.6;SOR=2.589	GT:AD:DP:GQ:PL	0/1:165,24:189:99:333,0,6375	1	0	5	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	6207.55	208	chr2	95855588	.	T	C	6207.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.403;DP=1106;ExcessHet=11.5949;FS=38.206;MLEAC=6;MLEAF=0.5;MQ=47.77;MQRankSum=-7.427;QD=5.73;ReadPosRankSum=-2.553;SOR=2.683	GT:AD:DP:GQ:PL	0/1:131,53:184:99:1351,0,3739	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	261.79	75	chr2	95859918	.	ATTTC	A	261.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.391;DP=567;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.52;MQRankSum=-4.352;QD=2.52;ReadPosRankSum=0.943;SOR=0.558	GT:AD:DP:GQ:PL	0/1:91,13:104:99:272,0,3729	5	0	1	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	8297.51	109	chr2	95859969	.	A	AT	8297.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.864;DP=746;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.24;ReadPosRankSum=0.225;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,34:124:99:0|1:95859969_A_AT:1152,0,3656:95859969	0	0	6	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	8294.55	109	chr2	95859970	.	G	T	8294.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.035;DP=742;ExcessHet=11.5949;FS=3.529;MLEAC=6;MLEAF=0.5;MQ=58.67;MQRankSum=-7.716;QD=11.22;ReadPosRankSum=0.118;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,34:125:99:0|1:95859969_A_AT:1149,0,3687:95859969	0	0	6	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	8252.55	108	chr2	95859975	.	C	T	8252.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.016;DP=744;ExcessHet=11.5949;FS=2.673;MLEAC=6;MLEAF=0.5;MQ=58.65;MQRankSum=-7.931;QD=11.18;ReadPosRankSum=-0.019;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,35:126:99:0|1:95859969_A_AT:1191,0,3684:95859969	0	0	6	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	7445.55	104	chr2	95859988	.	T	C	7445.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.378;DP=747;ExcessHet=11.5949;FS=1.934;MLEAC=6;MLEAF=0.5;MQ=58.63;MQRankSum=-8.029;QD=10.06;ReadPosRankSum=0.4;SOR=0.896	GT:AD:DP:GQ:PL	0/1:92,34:126:99:1152,0,2312	0	0	6	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	5634.55	98	chr2	95860002	.	T	A	5634.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.934;DP=709;ExcessHet=11.5949;FS=2.843;MLEAC=6;MLEAF=0.5;MQ=58.62;MQRankSum=-7.188;QD=8.07;ReadPosRankSum=-0.426;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,30:120:99:0|1:95860002_T_A:989,0,3638:95860002	0	0	6	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	6525.55	97	chr2	95860007	.	A	T	6525.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.02;DP=689;ExcessHet=11.5949;FS=2.838;MLEAC=6;MLEAF=0.5;MQ=58.55;MQRankSum=-7.349;QD=9.51;ReadPosRankSum=-0.529;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,31:120:99:0|1:95860002_T_A:1034,0,3626:95860002	0	0	6	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	5563.55	84	chr2	95860020	.	G	A	5563.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.329;DP=643;ExcessHet=11.5949;FS=2.962;MLEAC=6;MLEAF=0.5;MQ=58.6;MQRankSum=-7.104;QD=8.82;ReadPosRankSum=-0.538;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,30:114:99:0|1:95860020_G_A:1007,0,3415:95860020	0	0	6	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	5356.55	83	chr2	95860023	.	A	C	5356.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.07;DP=627;ExcessHet=11.5949;FS=3.964;MLEAC=6;MLEAF=0.5;MQ=58.57;MQRankSum=-7.249;QD=8.57;ReadPosRankSum=-0.327;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,27:111:99:0|1:95860020_G_A:881,0,3425:95860020	0	0	6	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	3318.55	67	chr2	95860046	.	C	A	3318.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.515;DP=493;ExcessHet=11.5949;FS=6.844;MLEAC=6;MLEAF=0.5;MQ=58.18;MQRankSum=-7.747;QD=6.87;ReadPosRankSum=-1.292;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,20:83:99:.:.:646,0,1675:.	0	0	6	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	3049.51	101	chr2	95927222	.	G	GAT	3049.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.34;DP=575;ExcessHet=11.5949;FS=33.996;MLEAC=6;MLEAF=0.5;MQ=54.76;MQRankSum=-7.373;QD=5.36;ReadPosRankSum=-3.339;SOR=3.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,19:100:99:0|1:95927222_G_GAT:554,0,3344:95927222	0	0	6	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	4621.51	108	chr2	95927226	.	GTT	G	4621.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.93;DP=631;ExcessHet=11.5949;FS=10.097;MLEAC=6;MLEAF=0.5;MQ=54.39;MQRankSum=-8.138;QD=7.34;ReadPosRankSum=-3.294;SOR=1.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,31:120:99:0|1:95927222_G_GAT:1034,0,3644:95927222	0	0	6	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	6313.55	116	chr2	95927234	.	T	C	6313.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.561;DP=697;ExcessHet=11.5949;FS=6.255;MLEAC=6;MLEAF=0.5;MQ=54.19;MQRankSum=-8.821;QD=9.07;ReadPosRankSum=-4.26;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,36:126:99:0|1:95927222_G_GAT:1241,0,3671:95927222	0	0	6	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	12404.5	149	chr2	95927252	.	A	G	12404.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.577;DP=930;ExcessHet=11.5949;FS=0.557;MLEAC=6;MLEAF=0.5;MQ=53.25;MQRankSum=-10.9;QD=13.35;ReadPosRankSum=-3.866;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,56:167:99:0|1:95927222_G_GAT:2017,0,4492:95927222	0	0	6	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	16199.5	176	chr2	95927268	.	C	A	16199.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.67;DP=1066;ExcessHet=11.5949;FS=1.787;MLEAC=6;MLEAF=0.5;MQ=52.63;MQRankSum=-11.62;QD=15.21;ReadPosRankSum=-3.648;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,70:189:99:0|1:95927222_G_GAT:2550,0,4786:95927222	0	0	6	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	16366.5	184	chr2	95927277	.	C	T	16366.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.677;DP=1111;ExcessHet=11.5949;FS=2.488;MLEAC=6;MLEAF=0.5;MQ=52.6;MQRankSum=-11.77;QD=14.95;ReadPosRankSum=-1.646;SOR=0.53	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,72:189:99:0|1:95927222_G_GAT:2600,0,4696:95927222	0	0	6	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	8094.55	110	chr2	95929092	.	T	C	8094.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.2;DP=771;ExcessHet=11.5949;FS=4.912;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=-7.583;QD=10.62;ReadPosRankSum=-2.964;SOR=1.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,48:146:99:0|1:95929092_T_C:1655,0,3950:95929092	0	0	6	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	10660.5	124	chr2	95929110	.	A	G	10660.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=8.51;DP=896;ExcessHet=11.5949;FS=8.404;MLEAC=6;MLEAF=0.5;MQ=45.67;MQRankSum=-7.949;QD=11.9;ReadPosRankSum=-2.216;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,57:169:99:0|1:95929092_T_C:2056,0,4531:95929092	0	0	6	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	14540.5	150	chr2	95929126	.	C	A	14540.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.89;DP=1057;ExcessHet=11.5949;FS=15.195;MLEAC=6;MLEAF=0.5;MQ=44.37;MQRankSum=-8.825;QD=13.76;ReadPosRankSum=-2.151;SOR=1.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,75:195:99:0|1:95929092_T_C:2788,0,4813:95929092	0	0	6	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	15558.5	155	chr2	95929130	.	G	C	15558.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=4.1;DP=1091;ExcessHet=11.5949;FS=15.27;MLEAC=6;MLEAF=0.5;MQ=44;MQRankSum=-8.641;QD=14.26;ReadPosRankSum=-1.702;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,79:200:99:0|1:95929092_T_C:2953,0,4843:95929092	0	0	6	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	15783.5	159	chr2	95929135	.	C	T	15783.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.75;DP=1140;ExcessHet=11.5949;FS=16.95;MLEAC=6;MLEAF=0.5;MQ=43.55;MQRankSum=-8.589;QD=14.26;ReadPosRankSum=-1.773;SOR=1.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,81:202:99:.:.:3025,0,4851:.	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	766.45	93	chr2	97185336	.	GC	G	766.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.258;DP=590;ExcessHet=6.1542;FS=0.964;MLEAC=5;MLEAF=0.417;MQ=47.56;MQRankSum=-4.107;QD=1.48;ReadPosRankSum=0.998;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,18:107:99:1|0:97185332_A_G:488,0,3662:97185332	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	730.37	96	chr2	97185340	.	C	G	730.37	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.81;DP=599;ExcessHet=6.1542;FS=0.957;MLEAC=5;MLEAF=0.417;MQ=47.3;MQRankSum=-4.03;QD=1.38;ReadPosRankSum=1.34;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:99:1|0:97185332_A_G:476,0,3830:97185332	1	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	727.31	96	chr2	97185341	.	A	AG	727.31	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.116;DP=602;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=47.2;MQRankSum=-3.997;QD=1.37;ReadPosRankSum=1.51;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:99:1|0:97185332_A_G:476,0,3851:97185332	1	0	5	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	696.25	102	chr2	97185345	.	GTAAT	G	696.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.582;DP=635;ExcessHet=3.1439;FS=0.93;MLEAC=4;MLEAF=0.333;MQ=46.41;MQRankSum=-3.55;QD=1.71;ReadPosRankSum=2.06;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,19:117:99:1|0:97185332_A_G:503,0,4058:97185332	2	0	4	0
chr2	97243866	97243870	AAAAG	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon70:c.4328_4332del:p.R1446Kfs*3	.	606	915	0	1	0	2	0.0010917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0119808	0.0014	0.0001	0	0.0230	0	1.986e-05	0	0.0003	0.0023052	60	26028	rs202082571	0.0014	0.0015	0.0015	0.0014	0.0493	0.0014	0.0014	0.0474	0.0467	6.068e-05	0	0	0.0493	0	0.0002	1.892e-05	0.0016	0.0010	0.0021	0.0023	0.0022	0.0021	0.0597	0.0019	0.0019	0.0540	0.0518	0.0004	0	0.0001	0	0.0597	0	0	2.956e-05	0.0010	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	981.22	35	chr2	97243865	.	AAAAAG	A	981.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.014;DP=203;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.083;MQ=41.1;MQRankSum=-2.676;QD=14.65;ReadPosRankSum=-0.435;SOR=0.484	GT:AD:DP:GQ:PL	0/1:40,27:67:99:991,0,1564	5	0	1	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	.	.	.	.	.	.	.	.	0.1	88.71	88	chr2	97243982	.	A	G	88.71	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.82;DP=317;ExcessHet=0;FS=6.619;MLEAC=1;MLEAF=0.1;MQ=37.4;MQRankSum=-0.649;QD=0.87;ReadPosRankSum=-0.484;SOR=1.142	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,9:102:98:0|1:97243981_C_T:98,0,3878:97243981	4	0	1	1
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	.	.	.	.	.	.	.	.	0.2	112.72	88	chr2	97243989	.	C	T	112.72	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0;DP=315;ExcessHet=0.4139;FS=9.03;MLEAC=2;MLEAF=0.2;MQ=37.3;MQRankSum=-0.597;QD=0.83;ReadPosRankSum=0.354;SOR=1.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,9:98:99:0|1:97243981_C_T:110,0,3710:97243981	3	0	2	1
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	9810.55	118	chr2	97513220	.	G	A	9810.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.994;DP=745;ExcessHet=11.5949;FS=2.663;MLEAC=6;MLEAF=0.5;MQ=35.14;MQRankSum=-2.353;QD=13.17;ReadPosRankSum=-0.246;SOR=0.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,55:143:99:0|1:97513219_T_C:2045,0,3530:97513219	0	0	6	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	10342.5	125	chr2	97513227	.	T	C	10342.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.043;DP=792;ExcessHet=11.5949;FS=2.655;MLEAC=6;MLEAF=0.5;MQ=35.39;MQRankSum=-2.431;QD=13.28;ReadPosRankSum=0.888;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,56:146:99:0|1:97513219_T_C:2081,0,3611:97513219	0	0	6	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12318.5	148	chr2	97513244	.	G	T	12318.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.163;DP=888;ExcessHet=11.5949;FS=3.359;MLEAC=6;MLEAF=0.5;MQ=35.84;MQRankSum=-2.194;QD=13.95;ReadPosRankSum=0.469;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,60:161:99:0|1:97513244_G_T:2216,0,4010:97513244	0	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	12785.5	154	chr2	97513253	.	A	G	12785.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.503;DP=917;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.04;MQRankSum=-2.041;QD=14.11;ReadPosRankSum=0.963;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,60:161:99:0|1:97513244_G_T:2215,0,4031:97513244	0	0	6	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	12794.5	151	chr2	97513254	.	C	T	12794.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.061;DP=916;ExcessHet=11.5949;FS=4.21;MLEAC=6;MLEAF=0.5;MQ=36.03;MQRankSum=-2.041;QD=14.17;ReadPosRankSum=0.806;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,60:161:99:0|1:97513244_G_T:2215,0,4031:97513244	0	0	6	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	14088.5	157	chr2	97513268	.	C	T	14088.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.1;DP=942;ExcessHet=11.5949;FS=3.264;MLEAC=6;MLEAF=0.5;MQ=36.45;MQRankSum=-2.206;QD=15.02;ReadPosRankSum=1.17;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,65:168:99:0|1:97513268_C_T:2419,0,4129:97513268	0	0	6	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	14249.5	157	chr2	97513270	.	A	C	14249.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.475;DP=947;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.52;MQRankSum=-2.055;QD=15.05;ReadPosRankSum=1.31;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,65:169:99:0|1:97513268_C_T:2416,0,4161:97513268	0	0	6	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	14309.5	157	chr2	97513271	.	T	C	14309.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.436;DP=952;ExcessHet=11.5949;FS=3.291;MLEAC=6;MLEAF=0.5;MQ=36.56;MQRankSum=-2.055;QD=15.03;ReadPosRankSum=1.29;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,65:169:99:0|1:97513268_C_T:2416,0,4161:97513268	0	0	6	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	14586.5	162	chr2	97513281	.	C	T	14586.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.802;DP=963;ExcessHet=11.5949;FS=3.276;MLEAC=6;MLEAF=0.5;MQ=36.9;MQRankSum=-2.365;QD=15.27;ReadPosRankSum=-0.166;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,65:168:99:0|1:97513268_C_T:2399,0,4119:97513268	0	0	6	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	4293.55	98	chr2	97513354	.	T	C	4293.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.73;DP=555;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=39.07;MQRankSum=-2.623;QD=7.95;ReadPosRankSum=0.805;SOR=0.714	GT:AD:DP:GQ:PL	0/1:61,29:90:99:705,0,1590	0	0	6	0
chr2	97547720	97547720	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon21:c.C1489A:p.Q497K	.	655	866	0	1	0	2	0.0011534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0101837	0.0010	0	0	0.0201	0	0	0.0033	0.0006	0.0020747	54	26028	rs535840456	0.0011	0.0012	0.0011	0.0011	0.0382	0.0011	0.0010	0.0365	0.0358	9.349e-05	0	0	0.0382	2e-05	0.0002	1.662e-05	0.0008	0.0008	0.0020	0.0020	0.0020	0.0020	0.0535	0.0018	0.0017	0.0483	0.0463	0.0004	0	6.571e-05	0	0.0535	0	0	2.95e-05	0.0009	0.0019	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-0.695	0.01866	N	.	.	.	.	.	.	0.091	0.08786	.	.	.	.	.	.	.	0.0048353076	0.00103	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	5.915210143369414E-4	0.00054	.	.	0.740046441555	0.72980	T	0.006515	0.05941	T	-0.147707	0.28672	T	-0.449947	0.27704	T	.	.	.	0.49935	0.15589	T	0.03752991	0.04827	0.05474137	0.09472	0.03752991	0.04827	0.05474137	0.09471	0.879	0.00148	T	.	.	0.055	0.01470	B	.;.;.	.;.;.	-1.398247	0.00361	0.007	0.13388947542284022	0.00262	0.00004	0.00092	N	AEFBI	.	.	.	.	.	.	.	.	.	2.17213628244939E-4	0.05997	0.106106	0.02776	0	0.105846	0.03286	0	0.078618	0.02440	0	0.078987	0.02075	0	0.108351	0.23351	0.936	-0.371	0.11902	-0.038000	0.12096	-0.266000	0.10387	-0.662000	0.04349	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.3982:0.6018	3.837	0.08412	342	0.85871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002445	0.000000	0.001377	0.004425	0.000000	0.009091	0.000000	0.004348	0.08333	467.83	33	chr2	97547720	.	G	T	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.97;DP=232;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=52.05;MQRankSum=-5.165;QD=8.51;ReadPosRankSum=-0.728;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,15:55:99:0|1:97547720_G_T:478,0,1614:97547720	5	0	1	0
chr2	97547725	97547725	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon21:c.T1484C:p.F495S	.	660	861	0	1	0	2	0.00116009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0	0	0.0193	0	0	0.0031	0.0006	3.84e-05	1	26028	rs751948189	0.0011	0.0012	0.0011	0.0011	0.0381	0.0011	0.0010	0.0365	0.0358	0.0002	0	0	0.0381	2.01e-05	0.0002	1.943e-05	0.0008	0.0008	0.0020	0.0021	0.0021	0.0020	0.0536	0.0019	0.0018	0.0484	0.0464	0.0005	0	6.565e-05	0	0.0536	0	0	2.949e-05	0.0009	0.0019	.	.	.	0.54	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.1	0.00987	N	.	.	.	.	.	.	0.056	0.04072	.	.	.	.	.	.	.	0.0023993552	0.00036	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	9.067813063054564E-4	0.00083	.	.	0.665299773216	0.62167	T	0.002096	0.01499	T	-0.154472	0.27615	T	-0.459665	0.26636	T	.	.	.	0.226477	0.03654	T	0.056154415	0.11010	0.09674591	0.23000	0.056154415	0.11010	0.09674591	0.22999	0.828	0.00156	T	.	.	0.057	0.03925	B	.;.;.	.;.;.	-0.146649	0.03375	0.602	0.20451813424297846	0.00736	0.00004	0.00092	N	AEFBI	.	.	.	.	.	.	.	.	.	2.15304978803228E-4	0.05997	0.106106	0.02776	0	0.105846	0.03286	0	0.078618	0.02440	0	0.078987	0.02075	0	0.099232	0.22093	0.749	-0.204	0.12551	0.555000	0.23129	-0.378000	0.09560	-0.697000	0.04075	0.419000	0.26322	0.000000	0.08366	0.002000	0.04165	0.3194:0.0:0.6806:0.0	3.333	0.06678	342	0.85871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	467.83	33	chr2	97547725	.	A	G	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.95;DP=230;ExcessHet=0;FS=1.176;MLEAC=1;MLEAF=0.083;MQ=52.05;MQRankSum=-5.165;QD=8.51;ReadPosRankSum=-0.121;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,15:55:99:0|1:97547720_G_T:478,0,1614:97547720	5	0	1	0
chr2	97792455	97792455	C	T	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon31:c.G4075A:p.D1359N	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	0.0004	0.0325479	0.0140	0.0014	0.0007	0.1511	0	0.0002	0.0035	0.0207	0.0123349	1907	154602	rs75972274	0.0055	0.0055	0.0051	0.0059	0.1467	0.0054	0.0053	0.1436	0.1423	0.0004	0.0002	3.834e-05	0.1467	0	0.0028	9.896e-05	0.0067	0.0188	0.0062	0.0063	0.0050	0.0075	0.1477	0.0059	0.0058	0.1390	0.1355	0.0010	0	0.0005	0.0003	0.1477	0	0	0.0001	0.0014	0.0256	0.004	0.65419	D	0.044	0.49663	D	0.826	0.45919	P	0.157	0.34536	B	0.001468	0.38917	N	0.305164	8.39516e-06	0.58761	P	1.955	0.52871	M	2.14	0.19450	T	-1.36	0.33798	N	0.118	0.10769	-1.0083	0.27448	T	0.000	0.00039	T	9	0.0014384389	0.00016	T	.	.	.	0.122	0.33800	.	.	.	.	0.2210515435222665	0.22020	0.226351178264	0.25190	0.478938817978	0.35910	T	0.014362	0.12243	T	-0.678437	0.00049	T	-0.605027	0.12392	T	0.019673624114104	0.00670	T	0.925008	0.72455	D	0.12665689	0.29659	0.11204181	0.27031	0.12665689	0.29659	0.11204181	0.27030	-3.701	0.19333	T	.	.	0.122	0.25331	B	.	.	4.134765	0.61898	24.4	0.99896599639781924	0.96971	0.99096	0.91166	D	AEFDBI	0.670411	0.63750	D	0.399895532990248	0.61418	4.342494	0.503368609192814	0.68216	5.189607	0.999996703599458	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.04	5.11	0.69188	5.624000	0.67440	4.811000	0.45042	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8717:0.1283:0.0	16.828	0.85800	459	0.78817	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.011696	0.000000	0.000000	0.003049	0.003788	0.08333	1093.83	35	chr2	97792455	.	C	T	1093.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.726;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=1.94;SOR=0.696	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1104,0,1207	5	0	1	0
chr2	100321601	100321601	G	A	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon1:c.C493T:p.R165C	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	.	.	0.00199681	0.0039	0.0004	0.0004	0	0	0.0003	0.0029	0.0184	0.0015847	245	154602	rs377306378	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0119	3.552e-05	0.0002	0	3.168e-05	0	0.0051	0.0002	0.0010	0.0128	0.0006	0.0006	0.0003	0.0008	0.0135	0.0005	0.0004	0.0109	0.0099	4.822e-05	0	0.0005	0	0	0	0	0.0001	0.0005	0.0135	0.016	0.51853	D	0.105	0.38016	T	0.944	0.53183	P	0.16	0.34752	B	0.002024	0.37411	U	0.097543	0.998676	0.45259	D	2.07	0.56829	M	-1.96	0.85091	D	-3.33	0.66206	D	0.16	0.16725	-0.3573	0.73342	T	0.398	0.75023	T	10	0.0068572164	0.00156	T	.	.	.	0.388	0.70440	.	.	0.533855592455	0.53035	0.40143752523714205	0.40058	1.08347559902	0.77202	0.908861637115	0.97361	D	0.105523	0.41607	T	-0.28242	0.10413	T	-0.166777	0.57738	T	0.0885196704075557	0.11041	T	0.717928	0.33070	T	0.2549126	0.48522	0.2176143	0.46433	0.2549126	0.48522	0.2176143	0.46432	-9.997	0.73894	D	.	.	0.394	0.59211	A	.	.	3.542654	0.49765	22.8	0.99456233803651373	0.65530	0.29579	0.23859	N	AEFDBHCIJ	0.207941	0.33407	N	-0.312400794245335	0.28676	1.58369	-0.410695354937189	0.24684	1.353051	0.999999999999386	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.55	2.66	0.30672	0.682000	0.25015	3.596000	0.39206	0.520000	0.23804	0.000000	0.06391	0.998000	0.33993	0.266000	0.23669	0.1096:0.0:0.8904:0.0	9.662	0.39127	616	0.66398	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-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	0.002556	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.015267	0.08333	920.83	35	chr2	100321601	.	G	A	920.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.469;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=1.44;SOR=0.628	GT:AD:DP:GQ:PL	0/1:27,38:65:99:931,0,658	5	0	1	0
chr2	106433255	106433255	T	C	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon16:c.A2236G:p.M746V	.	141	1380	1	0	0	1	0.000362188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00350603925636	.	.	2.55e-05	0	0	0	0.0002	1.542e-05	0.0011	0	3.84e-05	1	26028	rs766227403	2.192e-05	2.326e-05	1.636e-05	2.754e-05	0.0005	1.587e-05	1.358e-05	8.516e-05	3.547e-05	2.994e-05	0	0	0	0	0.0005	1.709e-05	4.983e-05	8.124e-05	1.978e-05	2.627e-05	0	4.052e-05	2.943e-05	5.26e-06	2.46e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0	0	0	2.943e-05	0	0	0.162	0.23541	T	0.198	0.38450	T	0.458	0.36312	P	0.292	0.40739	B	.	.	.	.	0.990152	0.24207	N	2.22	0.62911	M	2.06	0.20523	T	-2.03	0.46673	N	0.276	0.36043	-1.0469	0.15274	T	0.059	0.24908	T	9	0.1893405	0.34530	T	0.003506	0.07939	T	0.045	0.12272	0.3	0.26683	0.0401082797425	0.02173	0.10693905075102678	0.10623	.	.	0.572060823441	0.48970	T	0.009466	0.08620	T	-0.167196	0.25659	T	-0.477942	0.24667	T	0.0918449951734098	0.11435	T	0.819518	0.47762	T	0.13019264	0.30385	0.23052332	0.48157	0.13019264	0.30384	0.23052332	0.48156	-7.687	0.58917	D	.	.	0.190	0.43828	B	.;.	.;.	2.415928	0.31060	18.63	0.87641636841824277	0.17375	0.79225	0.39218	D	AEFI	0.370077	0.45658	N	-0.213081733386461	0.32596	1.840008	-0.260284264624391	0.29418	1.648041	1.75990261813186E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.34	2.34	0.28071	2.525000	0.45258	5.090000	0.47345	0.304000	0.19002	0.996000	0.39380	1.000000	0.68203	0.172000	0.21044	0.0:0.0:0.0:1.0	8.234	0.30774	907	0.22727	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1120.06	48	chr2	106433255	.	T	C	1120.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.57;DP=499;ExcessHet=0.4139;FS=3.815;MLEAC=2;MLEAF=0.167;MQ=41.09;MQRankSum=-0.942;QD=4.32;ReadPosRankSum=0.556;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,30:122:99:0|1:106433255_T_C:493,0,2857:106433255	4	0	2	0
chr2	106490937	106490937	T	C	exonic	CD8B2	.	nonsynonymous SNV	CD8B2:NM_001349727:exon2:c.T107C:p.M36T,CD8B2:NM_001368307:exon2:c.T107C:p.M36T	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0001164	18	154602	rs533493720	0.0015	0.0015	0.0014	0.0015	0.0043	0.0014	0.0014	0.0030	0.0026	0.0011	0.0013	0.0002	2.519e-05	1.873e-05	0.0043	0.0015	0.0013	0.0025	0.0010	0.0010	0.0011	0.0010	0.0017	0.0009	0.0009	0.0012	0.0011	0.0008	0	0.0008	0.0003	0	0	0.0034	0.0014	0.0028	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011199117	0.00246	T	.	.	.	.	.	.	.	.	.	0.099388158447209	0.09869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460054	0.13307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15609	B	.;.	.;.	-3.164717	0.00007	0.001	0.60973766807697649	0.06594	0.00135	0.00831	N	AEFGI	.	.	.	.	.	.	.	.	.	3.1793448261721E-5	0.03775	0.080785	0.02172	0	0.085267	0.02369	0	0.121075	0.03231	0	0.050693	0.00103	0	0.0579845	0.13864	3.44	-3.97	0.03821	-7.065000	0.00057	-14.449000	0.00403	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1754:0.5598:0.0:0.2648	4.137	0.09642	843	0.36859	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2166.06	35	chr2	106490937	.	T	C	2166.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.01;DP=320;ExcessHet=0.4139;FS=2.191;MLEAC=2;MLEAF=0.167;MQ=56.93;MQRankSum=-0.09;QD=12.67;ReadPosRankSum=0.48;SOR=0.945	GT:AD:DP:GQ:PL	0/1:57,29:86:99:765,0,1618	4	0	2	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	3439.8	135	chr2	108259015	.	G	*	3439.8	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.037;DP=785;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=-0.243;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,155:155:99:.:.:6930,470,0:.	2	3	1	0
chr2	109615225	109615233	TCGGTGGCC	-	exonic	SOWAHC	.	nonframeshift deletion	SOWAHC:NM_023016:exon1:c.736_744del:p.V247_S249del	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0015	0	0	0	0.0014	0.0075	0.0005	0.0003458	9	26028	rs775437106	0.0005	0.0005	0.0005	0.0005	0.0153	0.0005	0.0004	0.0126	0.0116	0.0004	0.0030	0.0002	0	4.38e-05	0.0153	0.0004	0.0009	0.0006	0.0008	0.0008	0.0006	0.0009	0.0044	0.0007	0.0006	0.0036	0.0033	0.0001	0	0.0044	0	0	0	0.0034	0.0005	0.0052	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	868.79	35	chr2	109615224	.	ATCGGTGGCC	A	868.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.643;DP=228;ExcessHet=0;FS=2.648;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.2;ReadPosRankSum=-0.695;SOR=0.503	GT:AD:DP:GQ:PL	0/1:20,23:43:99:879,0,770	5	0	1	0
chr2	110963643	110963643	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001371254:exon13:c.G1079A:p.R360Q	.	442	1059	21	0	0	21	0.00981767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0508755829006	0.0015	0.000599042	0.0040	0.0002	0.0009	0	0.0062	0.0043	0.0055	0.0085	0.0035252	545	154602	rs139505303	0.0026	0.0026	0.0023	0.0029	0.0084	0.0026	0.0025	0.0079	0.0077	0.0002	0.0010	0.0298	0.0001	0.0074	0.0061	0.0015	0.0042	0.0084	0.0027	0.0027	0.0027	0.0028	0.0082	0.0025	0.0024	0.0061	0.0054	0.0005	0	0.0010	0.0277	0.0002	0.0061	0	0.0025	0.0047	0.0082	0.006	0.61437	D	0.168	0.30631	T	0.956	0.54666	P	0.727	0.55167	P	0.000411	0.44736	N	0.090426	0.999637	0.47961	D	.	.	.	-0.49	0.70365	T	-2.67	0.57110	D	0.393	0.43417	-0.5241	0.67763	T	0.353	0.71658	T	9	0.01575613	0.00331	T	0.050876	0.64425	D	0.424	0.73226	.	.	0.711869458959	0.70935	.	.	.	.	.	.	.	0.319685	0.69095	T	-0.430201	0.01478	T	-0.38504	0.35133	T	0.0545219980913479	0.06277	T	0.733627	0.34942	T	0.14852482	0.33903	0.17239508	0.39491	0.14852482	0.33903	0.17239508	0.39490	-10.485	0.76761	D	.	.	0.152	0.33687	B	.	.	1.055996	0.14373	10.95	0.99910469386507339	0.98022	0.36896	0.25638	N	AEFBI	0.074308	0.14891	N	-0.0684011976285561	0.38785	2.276946	-0.105230951388771	0.35180	2.032186	0.682221993288881	0.22493	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.5	3.71	0.41733	0.981000	0.29124	0.069000	0.14235	-0.716000	0.03877	0.710000	0.28722	0.000000	0.08366	0.599000	0.31363	0.1615:0.0:0.8385:0.0	10.345	0.43086	699	0.57969	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1739.06	37	chr2	110963643	.	G	A	1739.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.15;DP=319;ExcessHet=0.4139;FS=14.395;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.149;SOR=1.403	GT:AD:DP:GQ:PL	0/1:53,26:79:99:554,0,1272	4	0	2	0
chr2	127566766	127566766	A	G	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon5:c.A409G:p.I137V	.	410	1103	8	1	0	10	0.00451264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.0391967652158	7.9e-05	.	1.673e-05	0	0	0	0	3.025e-05	0	0	1.29e-05	2	154602	rs376926341	1.506e-05	1.505e-05	5.451e-06	2.477e-05	1.799e-05	9.86e-06	8.42e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.186	0.28860	T	0.993	0.65571	D	0.914	0.64984	D	0.000000	0.84330	D	0.000000	0.999813	0.49394	D	1.495	0.37439	L	-2.33	0.87910	D	-0.88	0.23808	N	0.284	0.32148	0.245	0.86669	D	0.685	0.89132	D	10	0.52617735	0.62922	D	0.039197	0.58670	D	0.558	0.81831	.	.	0.715176864814	0.71267	0.4114651380891858	0.41062	0.0769873600419	0.08650	0.364211261272	0.19998	T	0.12563	0.45147	T	-0.0467259	0.44944	T	-0.197238	0.54908	T	0.300336171935976	0.25018	T	0.778122	0.41194	T	0.15136752	0.34414	0.16826375	0.38773	0.15136752	0.34414	0.16826375	0.38772	-6.069	0.46853	T	.	.	0.063	0.01622	B	.;.	.;.	1.695412	0.21600	15.27	0.99890689388837095	0.96513	0.78586	0.38794	D	AEFDGBHCI	0.622183	0.60660	D	0.465715574811048	0.65099	4.780188	0.46653902518479	0.65784	4.867985	0.999984003813232	0.51787	0.55562	0.30534	0	0.61073	0.52368	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	3.077000	0.49787	0.422000	0.18230	-0.541000	0.04931	1.000000	0.71638	0.014000	0.20376	0.818000	0.38543	0.852:0.1479:0.0:0.0	11.670	0.50655	958	0.09170	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class VII myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1236.83	35	chr2	127566766	.	A	G	1236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.618;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.4;SOR=0.643	GT:AD:DP:GQ:PL	0/1:42,52:94:99:1247,0,1105	5	0	1	0
chr2	130464114	130464114	A	C	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.T1930G:p.F644V,POTEI:NM_001371926:exon17:c.T1996G:p.F666V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00232069940374	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2599800	4.455e-05	0.0004	1.836e-05	7.291e-05	0.0003	2.682e-05	2.119e-05	4.65e-05	1.922e-05	0	0.0002	0.0002	0	0	0	3.805e-05	0	0.0003	0	0.0017	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	0.22	0.18956	T	0.387	0.15650	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.94	0.75325	T	-0.01	0.07155	N	0.061	0.03283	-0.9596	0.39255	T	0.154	0.48360	T	7	0.048131645	0.04222	T	0.002321	0.04479	T	0.056	0.15993	.	.	0.0986583533028	0.09354	0.003623338190744416	0.00339	.	.	0.664063692093	0.61989	T	0.014274	0.12184	T	-0.2376	0.15655	T	-0.579072	0.14628	T	0.0279980392384522	0.01689	T	0.060394	0.00440	T	0.049516708	0.08803	0.054108556	0.09244	0.049516708	0.08802	0.054108556	0.09243	-4.663	0.32953	T	.	.	0.083	0.09336	B	.	.	0.545493	0.09141	5.924	0.42561007843572135	0.03146	0.01204	0.04289	N	AEFI	.	.	.	-1.15527644688267	0.05694	0.2602254	-1.30336887273633	0.04386	0.2067916	1.22258822440698E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.108000	0.10827	.	.	-0.656000	0.04369	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2281:0.0:0.4576:0.3143	1.921	0.03106	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	.	.	.	.	.	.	.	.	0.6667	285.38	.	chr2	130464114	.	A	C	285.38	.	AC=4;AF=0.667;AN=6;DP=23;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=29.82;QD=28.54;SOR=4.804	GT:AD:DP:GQ:PL	1/1:0,4:4:12:119,12,0	1	2	0	3
chr2	130964246	130964246	G	A	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001375904:exon1:c.G55A:p.A19T	.	691	829	1	1	0	3	0.00180614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	.	.	.	.	.	.	.	.	0.0021515	56	26028	rs540229117	0.0050	0.0030	0.0051	0.0049	0.0051	0.0048	0.0048	0.0050	0.0049	0.0004	0.0010	0.0012	0.0003	0	0.0025	0.0051	0.0052	0.0042	0.0034	0.0034	0.0034	0.0034	0.0087	0.0031	0.0030	0.0075	0.0070	0.0006	0	0.0087	0.0023	0.0006	0.0012	0	0.0043	0.0061	0.0050	0.282	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.54	0.70950	T	-0.1	0.08495	N	.	.	.	.	.	.	.	.	.	0.011431098	0.00250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407359	0.10471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14431	B	.	.	2.565190	0.33231	19.28	0.97546560952503858	0.34544	0.57529	0.30400	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999751464567074	0.42595	0.166803	0.03914	0	0.085267	0.02369	0	0.182457	0.04408	0	0.109499	0.03221	0	0.275838	0.33908	2.65	2.65	0.30588	2.882000	0.48244	.	.	0.577000	0.29297	0.998000	0.41325	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	9.001	0.35245	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	73.34	10	chr2	130964246	.	G	A	73.34	.	AC=2;AF=0.167;AN=12;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=24.45;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:90,9,0	5	1	0	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S	.	31	1432	57	2	0	61	0.0208547	.	.	.	4008681	Keratoconus_9	MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010053	0.035354	0.000000	0.004098	0.000000	0.000000	0.015244	0.003788	0.1	90.13	197	chr2	131480177	.	G	A	90.13	.	AC=1;AF=0.1;AN=10;BaseQRankSum=4.79;DP=808;ExcessHet=0;FS=61.336;MLEAC=1;MLEAF=0.1;MQ=51.71;MQRankSum=-5.855;QD=0.54;ReadPosRankSum=0.018;SOR=5.097	GT:AD:DP:GQ:PL	0/1:147,20:167:99:99,0,3956	4	0	1	1
chr2	143767996	143767996	G	A	exonic	ARHGAP15	.	nonsynonymous SNV	ARHGAP15:NM_018460:exon14:c.G1252A:p.A418T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00589962753456	.	.	2.478e-05	0	8.681e-05	0	0	1.502e-05	0	6.083e-05	1.94e-05	3	154602	rs758104156	6.844e-06	6.84e-06	5.448e-06	8.255e-06	5.801e-05	3.46e-06	2.52e-06	2.195e-05	1.431e-05	0	2.238e-05	0	0	0	0	3.598e-06	0	5.801e-05	6.58e-06	6.57e-06	1.286e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.091	0.31834	T	0.092	0.39954	T	0.001	0.07471	B	0.015	0.17295	B	0.040509	0.24050	N	0.468823	0.994505	0.42307	D	0.605	0.15622	N	2.14	0.19450	T	-0.06	0.07882	N	0.42	0.45992	-1.1064	0.03398	T	0.038	0.16246	T	10	0.16139737	0.30274	T	0.006	0.15371	T	0.025	0.05312	0.324	0.30549	0.393316636838	0.38940	0.08036931325476114	0.07971	0.0552803104029	0.06112	0.492152035236	0.37737	T	0.046564	0.27461	T	-0.280268	0.10638	T	-0.539732	0.18323	T	0.195342466235161	0.20155	T	0.70393	0.31399	T	0.07131588	0.15781	0.0784294	0.17566	0.07131588	0.15780	0.0784294	0.17566	-5.869	0.45170	T	.	.	0.085	0.10256	B	.	.	2.556226	0.33095	19.24	0.99294743715903433	0.58397	0.98401	0.82399	D	AEFBI	0.601109	0.59348	D	-0.195316525951377	0.33329	1.88963	-0.0133803106792237	0.39110	2.313964	0.995805655162899	0.34336	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	3.69	0.41483	4.623000	0.60948	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.7387:0.2613	14.928	0.70543	895	0.25842	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	.	.	.	.	.	.	.	.	0.08333	1091.83	34	chr2	143767996	.	G	A	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=275;ExcessHet=0;FS=5.539;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.307;SOR=1.352	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1102,0,1274	5	0	1	0
chr2	151491777	151491777	T	G	splicing	NEB	NM_001164507:exon179:c.25058-2A>C;NM_001271208:exon180:c.25163-2A>C;NM_004543:exon146:c.19454-2A>C;NM_001164508:exon179:c.25058-2A>C	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	1.0000	0.928	YES	541397	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866309952	2.104e-06	2.052e-06	0	4.249e-06	1.231e-05	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0	0	3.374e-05	1.231e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.387932	0.90274	31	0.99442305612794568	0.64820	0.99672	0.98539	D	AEFDBI	.	.	.	1.15103817244404	0.98972	20.09625	1.00898274462746	0.98793	19.40104	0.999999999597429	0.74766	0.078448	0.01964	0	0.084543	0.02171	0	0.083675	0.02720	0	0.092715	0.02821	0	0.980675	0.86007	5.63	5.63	0.86108	7.961000	0.87447	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.490	0.75335	799	0.44747	.;.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	814.83	37	chr2	151491777	.	T	G	814.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.136;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.091;SOR=0.725	GT:AD:DP:GQ:PL	0/1:29,32:61:99:825,0,710	5	0	1	0
chr2	151508004	151508004	C	G	splicing	NEB	NM_001164507:exon162:c.23451+1G>C;NM_001271208:exon163:c.23556+1G>C;NM_004543:exon134:c.18312+1G>C;NM_001164508:exon162:c.23451+1G>C	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	2	1519	1	0	0	1	0.000329056	1.0000	0.936	YES	541536	Arthrogryposis_multiplex_congenita_6|Nemaline_myopathy_2	MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011425121	3.453e-06	3.42e-06	1.372e-06	5.561e-06	1.189e-05	1.01e-06	7.4e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.812e-06	3.341e-05	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.979987	0.94247	34	0.99258745494189093	0.57121	0.98271	0.81130	D	AEFBI	.	.	.	1.15333763124874	0.99006	20.24027	0.990313819073262	0.98431	18.26055	0.999999997913322	0.74766	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.057018	0.00518	0	0.987926	0.96525	4.92	4.92	0.64147	7.374000	0.78887	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.012	0.92856	877	0.30165	.;.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	335.83	37	chr2	151508004	.	C	G	335.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.46;DP=204;ExcessHet=0;FS=1.44;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.481;SOR=1.022	GT:AD:DP:GQ:PL	0/1:18,13:31:99:346,0,468	5	0	1	0
chr2	151519669	151519669	G	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon126:c.C17440A:p.L5814I,NEB:NM_001164507:exon154:c.C22579A:p.L7527I,NEB:NM_001164508:exon154:c.C22579A:p.L7527I,NEB:NM_001271208:exon155:c.C22684A:p.L7562I	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00525163723216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.749e-06	3.421e-06	1.368e-06	4.142e-06	1.162e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	9.038e-07	3.325e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.14159	T	0.226	0.33442	T	0.039	0.21116	B	0.045	0.24526	B	0.000002	0.62929	D	0.058228	0.999673	0.48205	D	1.155	0.29575	L	3.17	0.08547	T	-0.65	0.23372	N	0.261	0.34336	-1.1129	0.02832	T	0.025	0.10643	T	10	0.17571166	0.32518	T	0.005252	0.13402	T	0.096	0.27654	0.24	0.17218	0.546306241058	0.54285	0.6078074934973864	0.60712	0.0926473363158	0.10463	0.614982247353	0.55019	T	0.018006	0.53460	T	-0.1864	0.22787	T	-0.505527	0.21774	T	0.788127601146698	0.45567	D	0.813919	0.51127	T	0.10451953	0.24709	0.11637142	0.28092	0.10451953	0.24708	0.11637142	0.28091	-6.191	0.50387	T	.	.	0.091	0.12938	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.045723	0.40845	21.2	0.98731045474576995	0.45348	0.89802	0.50505	D	AEFBI	0.376334	0.46052	N	0.245376205262128	0.53409	3.510018	0.390658300287541	0.60989	4.292831	0.905851984285252	0.26215	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	6.16	5.28	0.74118	3.789000	0.55159	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0734:0.0:0.7498:0.1768	9.596	0.38739	869	0.31655	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1383.83	39	chr2	151519669	.	G	T	1383.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.338;DP=333;ExcessHet=0;FS=2.087;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.491;SOR=0.846	GT:AD:DP:GQ:PL	0/1:87,61:148:99:1394,0,2215	5	0	1	0
chr2	151678027	151678027	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon33:c.C3416T:p.T1139M,NEB:NM_001164508:exon33:c.C3416T:p.T1139M,NEB:NM_001271208:exon33:c.C3416T:p.T1139M,NEB:NM_004543:exon33:c.C3416T:p.T1139M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	282180	not_specified|Inborn_genetic_diseases|Nemaline_myopathy_2|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.123	0.0383930926462	.	0.000599042	9.95e-05	0.0001	0.0003	0	0	7.502e-05	0	0.0002	0.0001035	16	154602	rs181244403	8.278e-05	8.277e-05	8.849e-05	7.702e-05	0.0002	7.07e-05	6.619e-05	9.791e-05	7.838e-05	2.987e-05	0.0002	0	0	0	0	8.454e-05	6.626e-05	0.0002	0.0001	0.0001	0.0001	8.061e-05	0.0002	6.51e-05	5.322e-05	9.049e-05	7.013e-05	4.817e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.014	0.53172	D	0.0	0.92824	D	0.992	0.64738	D	0.748	0.55971	P	0.000000	0.84330	D	0.052668	0.999859	0.49910	D	1.95	0.52479	M	1.51	0.30937	T	-2.56	0.56301	D	0.674	0.68777	-1.0600	0.11756	T	0.099	0.36882	T	10	0.4306787	0.57469	T	0.038393	0.58198	D	0.123	0.34020	.	.	0.463928626847	0.46019	0.49322904400404616	0.49243	0.306086603298	0.32911	0.351074397564	0.18080	T	0.138749	0.75369	T	-0.365641	0.03821	T	-0.470845	0.25425	T	0.338794052600861	0.26576	T	0.910209	0.74506	D	0.1340983	0.31169	0.1260299	0.30359	0.1340983	0.31168	0.1260299	0.30358	-5.628	0.43048	T	.	.	0.076	0.05935	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.084850	0.41513	21.4	0.99852292004536469	0.93191	0.93921	0.59578	D	AEFBI	0.438130	0.49765	N	0.338456413757822	0.58134	3.98387	0.327691200861931	0.57172	3.882171	0.999714208412606	0.42101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.59	4.71	0.59010	3.931000	0.56242	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.070000	0.16646	0.1472:0.0:0.8528:0.0	11.603	0.50272	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	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2154.83	33	chr2	151678027	.	G	A	2154.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=329;ExcessHet=0;FS=2.003;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.155;SOR=0.543	GT:AD:DP:GQ:PL	0/1:81,78:159:99:2165,0,2028	5	0	1	0
chr2	162288184	162288184	T	C	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon5:c.A1046G:p.K349R	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	423	1081	17	1	0	19	0.0087116	.	.	.	516633	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_specified|Immunodeficiency_95|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:CN169374|MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0014	0.00319489	0.0035	0.0002	0.0012	0.0002	0	0.0013	0.0011	0.0197	0.0030918	478	154602	rs72650664	0.0026	0.0026	0.0021	0.0032	0.0198	0.0026	0.0025	0.0190	0.0187	0.0002	0.0010	0	0.0001	0	0.0056	0.0017	0.0026	0.0198	0.0018	0.0018	0.0016	0.0019	0.0213	0.0016	0.0015	0.0180	0.0167	0.0004	0	0.0025	0	0	9.42e-05	0.0068	0.0016	0.0005	0.0213	0.318	0.13654	T	0.442	0.13252	T	0.345	0.33546	B	0.195	0.36592	B	0.000439	0.44522	D	0.283615	0.862363	0.35411	D	0.435	0.12660	N	0.59	0.53943	T	-0.88	0.23808	N	0.187	0.20395	-0.8860	0.49273	T	0.117	0.41275	T	10	0.0059061646	0.00132	T	.	.	.	0.039	0.10176	.	.	0.713835922619	0.71132	0.2978720611958331	0.29700	0.0240516948503	0.02442	0.348664283752	0.17725	T	0.07048	0.33971	T	-0.463956	0.00928	T	-0.424281	0.30586	T	0.019399027718068	0.00645	T	0.740726	0.36032	T	0.15416744	0.34909	0.24077097	0.49458	0.21934694	0.44464	0.27207413	0.53114	-5.922	0.45622	T	0.1792702559365503	0.23016	0.070	0.04932	B	.;.;.	.;.;.	2.599599	0.33743	19.43	0.99713461923194302	0.81493	0.87483	0.47037	D	AEFBI	0.340597	0.43736	N	0.0140602945220666	0.42495	2.561443	0.202967507889714	0.50013	3.197745	0.999781443330021	0.43007	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.96	5.96	0.96695	2.325000	0.43499	1.945000	0.29852	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.445	0.83760	594	0.68584	Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.018939	0.08333	771.83	37	chr2	162288184	.	T	C	771.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.025;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.356;SOR=0.623	GT:AD:DP:GQ:PL	0/1:39,33:72:99:782,0,1025	5	0	1	0
chr2	172491072	172491072	G	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon21:c.G2728A:p.D910N,ITGA6:NM_001079818:exon21:c.G2728A:p.D910N,ITGA6:NM_001316306:exon21:c.G2371A:p.D791N,ITGA6:NM_001365529:exon21:c.G2683A:p.D895N,ITGA6:NM_001365530:exon21:c.G2683A:p.D895N	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	1	1494	24	3	0	30	0.00994036	.	.	.	283701	Junctional_epidermolysis_bullosa_with_pyloric_atresia|not_provided	MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.112	0.0101160725306	0.0051	0.00239617	0.0049	0.0014	0.0048	0	0.0024	0.0072	0.0088	0.0010	0.0048318	747	154602	rs61737182	0.0063	0.0066	0.0064	0.0062	0.0079	0.0062	0.0061	0.0070	0.0069	0.0012	0.0058	0.0125	0	0.0033	0.0079	0.0071	0.0064	0.0009	0.0051	0.0051	0.0054	0.0048	0.0075	0.0048	0.0047	0.0069	0.0067	0.0016	0	0.0062	0.0133	0	0.0027	0.0238	0.0075	0.0104	0.0006	0.33	0.18000	T	0.474	0.12107	T	0.034	0.20480	B	0.085	0.29395	B	0.149179	0.18026	N	0.611073	1	0.08975	N	1.59	0.40313	L	0.77	0.49642	T	-0.37	0.17210	N	0.137	0.13484	-1.0457	0.15621	T	0.073	0.29515	T	10	0.0038841367	0.00074	T	0.010116	0.26280	T	0.112	0.31546	.	.	0.451504584351	0.44773	0.48356225979701	0.48276	0.391427431457	0.40341	0.33512198925	0.15706	T	0.058454	0.30846	T	-0.589559	0.00169	T	-0.611675	0.11849	T	0.00592956864552455	0.00065	T	0.822518	0.52285	T	0.039097063	0.05334	0.044123553	0.05645	0.033754837	0.03656	0.044123553	0.05644	-3.376	0.15490	T	.	.	0.075	0.06803	B	.;.;.;.;.;.	.;.;.;.;.;.	2.629902	0.34197	19.56	0.97738475374301148	0.35665	0.04340	0.09903	N	AEFBI	0.071059	0.14131	N	-0.395247724888842	0.25637	1.393218	-0.279890348411636	0.28761	1.606131	0.999284130369065	0.39007	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	1.499000	0.35279	11.837000	0.97708	0.618000	0.50648	0.036000	0.20778	1.000000	0.68203	0.962000	0.52141	0.1002:0.0:0.8998:0.0	9.590	0.38706	764	0.49969	.;.;Integrin alpha-2;.;.;.	.	.	.	.	.	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	0.008065	0.025510	0.006793	0.002924	0.000000	0.000000	0.015244	0.000000	0.08333	954.83	34	chr2	172491072	.	G	A	954.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.927;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=-0.858;SOR=0.555	GT:AD:DP:GQ:PL	0/1:20,35:55:99:965,0,526	5	0	1	0
chr2	174877875	174877875	C	T	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.G565A:p.D189N,CHN1:NM_001822:exon6:c.G514A:p.D172N,CHN1:NM_001025201:exon7:c.G514A:p.D172N,CHN1:NM_001371513:exon7:c.G514A:p.D172N	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00700472838458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07163	T	0.564	0.11479	T	0.0	0.02946	B	0.0	0.01387	B	0.018542	0.27457	N	0.421699	0.77319	0.29414	N	0.755	0.19153	N	-0.52	0.70717	T	-0.19	0.09965	N	0.186	0.32148	-0.9908	0.32398	T	0.125	0.43028	T	10	0.08493042	0.14287	T	0.007005	0.18541	T	0.084	0.24469	0.121	0.02793	0.426712279199	0.42290	0.43004795101742194	0.42921	0.303614151573	0.32687	0.415444612503	0.27208	T	0.093999	0.39326	T	-0.198066	0.21084	T	-0.522284	0.20064	T	0.568062543869019	0.35161	D	0.909409	0.67928	D	0.060816955	0.12522	0.048977397	0.07389	0.060816955	0.12522	0.048977397	0.07389	-3.748	0.28358	T	.	.	0.068	0.05711	B	.;.	.;.	3.167569	0.42947	21.6	0.96430523365336163	0.29792	0.91150	0.52958	D	AEFDBHIJ	0.246187	0.36699	N	-0.442411899085144	0.23998	1.292721	-0.201623711603096	0.31479	1.781831	0.999999996944252	0.74766	0.706298	0.61202	0	0.578056	0.33634	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.03	0.46115	4.108000	0.57555	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.856:0.0:0.144	11.569	0.50074	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	45.05	34	chr2	174877875	.	C	T	45.05	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.727;DP=281;ExcessHet=0;FS=27.357;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=3.9;SOR=4.717	GT:AD:DP:GQ:PL	0/1:61,15:76:55:55,0,1556	5	0	1	0
chr2	178324247	178324247	C	T	exonic	OSBPL6	.	nonsynonymous SNV	OSBPL6:NM_145739:exon2:c.C110T:p.P37L,OSBPL6:NM_001201480:exon4:c.C173T:p.P58L,OSBPL6:NM_001201481:exon4:c.C173T:p.P58L,OSBPL6:NM_001201482:exon4:c.C173T:p.P58L,OSBPL6:NM_032523:exon4:c.C173T:p.P58L	.	430	1056	34	2	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0019	0.00698882	0.0087	0.0007	0.0021	0.0003	0	0.0045	0.0073	0.0305	0.0042884	663	154602	rs34874235	0.0037	0.0038	0.0031	0.0043	0.0243	0.0036	0.0036	0.0235	0.0231	0.0005	0.0012	0.0001	7.729e-05	5.868e-05	0.0097	0.0027	0.0037	0.0243	0.0023	0.0023	0.0022	0.0025	0.0247	0.0021	0.0021	0.0211	0.0197	0.0006	0	0.0012	0.0003	0.0002	0.0003	0	0.0027	0.0028	0.0247	0.022	0.65419	D	0.184	0.47336	T	0.065	0.29693	B	0.032	0.22741	B	0.136896	0.18431	N	0.560099	0.982406	0.40094	D	0	0.06538	N	1.25	0.36512	T	-1.14	0.38734	N	0.302	0.35194	-1.0895	0.05616	T	0.061	0.25635	T	10	0.0038985908	0.00074	T	.	.	.	0.025	0.05312	.	.	0.0675242888579	0.06100	0.2651952141909519	0.26432	0.343719139583	0.36299	0.414854466915	0.27127	T	0.013066	0.11369	T	-0.501483	0.00561	T	-0.474868	0.24994	T	0.00769843631727962	0.00090	T	0.957104	0.83854	D	0.07133131	0.15784	0.062420767	0.12208	0.07133131	0.15783	0.062420767	0.12208	-4.84	0.36655	T	.	.	0.071	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.386064	0.46858	22.4	0.99623548177428622	0.75594	0.55822	0.29961	D	AEFDBI	0.084559	0.17137	N	-0.0939410315234078	0.37659	2.194098	0.0889973802018762	0.43994	2.689787	0.998386936897328	0.36869	0.615465	0.37627	0	0.563428	0.19063	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.9	4.97	0.65419	1.533000	0.35645	.	.	0.599000	0.40250	0.891000	0.31220	1.000000	0.68203	0.711000	0.34484	0.2265:0.6504:0.1231:0.0	10.481	0.43878	322	0.86904	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.006793	0.011696	0.000000	0.000000	0.015244	0.045455	0.08333	713.83	34	chr2	178324247	.	C	T	713.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=232;ExcessHet=0;FS=1.028;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.471;SOR=0.935	GT:AD:DP:GQ:PL	0/1:30,29:59:99:724,0,671	5	0	1	0
chr2	178531191	178531191	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G78229A:p.E26077K,TTN:NM_133432:exon187:c.G78604A:p.E26202K,TTN:NM_133437:exon187:c.G78805A:p.E26269K,TTN:NM_133378:exon307:c.G97720A:p.E32574K,TTN:NM_001256850:exon308:c.G100501A:p.E33501K,TTN:NM_001267550:exon358:c.G105424A:p.E35142K	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	.	.	YES	655179	not_provided|not_specified|Cardiomyopathy	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.405	0.0213646548041	.	.	4.968e-05	0	0	0	0	7.492e-05	0	6.056e-05	3.88e-05	6	154602	rs765274398	2.189e-05	2.189e-05	2.45e-05	1.925e-05	0.0002	1.584e-05	1.356e-05	1.627e-05	1.382e-05	2.987e-05	0	0	0	0	0.0002	2.338e-05	1.656e-05	3.478e-05	4.6e-05	4.597e-05	7.708e-05	1.345e-05	0.0001	2.11e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	0.015	0.52492	D	.	.	.	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.999999	0.81001	D	2.035	0.55589	M	0.81	0.48460	T	-2.93	0.61284	D	0.523	0.78641	-0.4632	0.69961	T	0.293	0.66470	T	9	0.4202005	0.56812	T	0.021365	0.44128	T	0.405	0.71791	0.7	0.83684	0.304435445954	0.30045	.	.	0.489131336793	0.47684	0.605935931206	0.53742	T	.	.	.	-0.154445	0.27618	T	-0.278098	0.46998	T	0.364415984976255	0.27581	T	0.969903	0.89155	D	.	.	.	.	.	.	.	.	-6.544	0.50625	T	.	.	0.3	0.52985	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.672559	0.34844	19.74	0.96266567924817903	0.29234	0.96561	0.69756	D	AEFGBHCI	0.855792	0.77294	D	0.666093363582971	0.77414	6.67007	0.622979332758715	0.76612	6.52327	1.0	0.98316	0.554377	0.28877	0	0.484254	0.07192	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.1	5.1	0.68917	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:1.0:0.0:0.0	18.501	0.90831	364	0.84707	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4778.06	93	chr2	178531191	.	C	T	4778.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.32;DP=567;ExcessHet=0.4139;FS=4.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.91;SOR=0.923	GT:AD:DP:GQ:PL	0/1:77,83:160:99:2207,0,1693	4	0	2	0
chr2	185802105	185802105	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.G12799A:p.V4267I	.	.	.	.	.	.	.	.	.	.	.	4137678	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.0127815237244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.05755	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.95	0.43279	T	-0.58	0.17417	N	0.04	0.01347	-1.0060	0.28156	T	0.038	0.16246	T	7	0.03970188	0.02481	T	0.012782	0.31649	T	0.028	0.06331	.	.	0.0551355673512	0.04727	0.021104303109502336	0.02063	.	.	0.257732331753	0.04624	T	0.002051	0.01461	T	-0.37584	0.03309	T	-0.777645	0.02526	T	0.0219465327461003	0.00902	T	0.351165	0.07832	T	0.026281495	0.01667	0.033339437	0.02213	0.026281495	0.01666	0.033339437	0.02213	-2.998	0.10159	T	.	.	0.084	0.09820	B	.	.	-0.151538	0.03345	0.591	0.63219652101690782	0.07166	0.01341	0.04611	N	AEFI	.	.	.	-1.13230773207518	0.06076	0.2787387	-1.21246573224941	0.05709	0.2727758	1.95757293195217E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	-1.12	0.09306	0.128000	0.15636	0.215000	0.16006	-0.227000	0.07798	0.006000	0.17386	0.000000	0.08366	0.346000	0.25568	0.6057:0.1777:0.2166:0.0	4.994	0.13573	731	0.54177	Fibrous sheath-interacting protein 2, 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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3585.06	77	chr2	185802105	.	G	A	3585.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.588;DP=561;ExcessHet=0.4139;FS=7.737;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.47;SOR=0.673	GT:AD:DP:GQ:PL	0/1:66,67:133:99:1829,0,1707	4	0	2	0
chr2	186504214	186504214	G	C	exonic	ZC3H15	.	nonsynonymous SNV	ZC3H15:NM_018471:exon6:c.G717C:p.E239D	.	.	.	.	.	.	.	.	1.0000	0.966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.022	0.57587	D	0.935	0.52277	P	0.411	0.44827	B	0.000000	0.84330	D	0.046544	1	0.81001	D	3.38	0.91446	M	1.06	0.39781	T	-2.56	0.55339	D	0.807	0.80278	-0.3719	0.72903	T	0.219	0.58163	T	10	0.61418194	0.67612	D	0.057279	0.66910	D	0.340	0.66202	0.447	0.50629	0.176862962021	0.17281	0.8371508936038035	0.83675	1.25842597875	0.81969	0.810016155243	0.83495	D	0.52783	0.83605	D	0.134539	0.67800	D	-0.0445212	0.67395	D	0.981274902820587	0.73818	D	0.933007	0.74900	D	0.71572834	0.78924	0.6211325	0.77928	0.71572834	0.78926	0.6211325	0.77929	-8.983	0.67588	D	.	.	0.981	0.91303	P	.	.	6.609620	0.95479	35	0.9976274900218054	0.85172	0.98083	0.79454	D	ALL	0.857353	0.77471	D	0.686265938508068	0.78731	6.931324	0.660652857345304	0.79405	7.075772	1.0	0.98316	0.743674	0.98306	0	0.779548	0.99637	0	0.630245	0.45026	0	0.636	0.56748	0	.	.	5.2	5.2	0.71720	6.745000	0.74658	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.112	0.93305	410	0.82135	ZC3H15/TMA46 family, 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	.	.	.	.	.	.	.	.	0.1	51.72	.	chr2	186504214	.	G	C	51.72	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.178;DP=246;ExcessHet=0;FS=7.187;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.62;SOR=2.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,9:38:61:.:.:61,0,659:.	4	0	1	1
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	412.91	.	chr2	186504215	.	G	A	412.91	.	AC=3;AF=0.375;AN=8;BaseQRankSum=1.72;DP=269;ExcessHet=4.1913;FS=98.8;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=2.31;SOR=7.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,7:38:3:.:.:41,0,658:.	1	0	3	2
chr2	188584355	188584355	C	T	exonic	GULP1	.	nonsynonymous SNV	GULP1:NM_001252669:exon7:c.C391T:p.R131C,GULP1:NM_001375947:exon8:c.C562T:p.R188C,GULP1:NM_001375944:exon9:c.C562T:p.R188C,GULP1:NM_001375945:exon9:c.C562T:p.R188C,GULP1:NM_001375946:exon9:c.C562T:p.R188C,GULP1:NM_001375950:exon9:c.C562T:p.R188C,GULP1:NM_001375952:exon9:c.C853T:p.R285C,GULP1:NM_001252668:exon10:c.C700T:p.R234C,GULP1:NM_001375925:exon10:c.C700T:p.R234C,GULP1:NM_001375928:exon10:c.C700T:p.R234C,GULP1:NM_001375930:exon10:c.C700T:p.R234C,GULP1:NM_001375931:exon10:c.C700T:p.R234C,GULP1:NM_001375935:exon10:c.C925T:p.R309C,GULP1:NM_001375937:exon10:c.C925T:p.R309C,GULP1:NM_016315:exon10:c.C700T:p.R234C,GULP1:NM_001375926:exon11:c.C700T:p.R234C,GULP1:NM_001375927:exon11:c.C700T:p.R234C,GULP1:NM_001375929:exon11:c.C700T:p.R234C,GULP1:NM_001375932:exon11:c.C925T:p.R309C,GULP1:NM_001375933:exon11:c.C925T:p.R309C,GULP1:NM_001375936:exon11:c.C925T:p.R309C,GULP1:NM_001375938:exon11:c.C925T:p.R309C,GULP1:NM_001375948:exon11:c.C925T:p.R309C,GULP1:NM_001375953:exon11:c.C811T:p.R271C,GULP1:NM_001375934:exon12:c.C925T:p.R309C,GULP1:NM_001375939:exon12:c.C925T:p.R309C,GULP1:NM_001375940:exon12:c.C949T:p.R317C,GULP1:NM_001375943:exon12:c.C949T:p.R317C,GULP1:NM_001375949:exon12:c.C925T:p.R309C,GULP1:NM_001375941:exon13:c.C949T:p.R317C,GULP1:NM_001375942:exon13:c.C949T:p.R317C,GULP1:NM_001375951:exon13:c.C865T:p.R289C	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.025613896014	.	.	2.471e-05	0	0	0.0001	0	1.499e-05	0.0011	0	1.94e-05	3	154602	rs777577897	2.959e-05	3.01e-05	1.782e-05	4.146e-05	0.0003	2.229e-05	1.981e-05	6.117e-05	3.28e-05	3e-05	0	0.0003	5.051e-05	0	0.0003	1.72e-05	6.659e-05	9.301e-05	6.569e-05	6.562e-05	6.426e-05	6.719e-05	0.0006	3.516e-05	2.616e-05	0.0002	8.398e-05	4.814e-05	0	0	0.0003	0.0006	0	0	5.882e-05	0	0	0.065	0.36310	T	0.091	0.40110	T	0.001	0.07471	B	0.0	0.01387	B	0.000853	0.41440	D	0.276992	0.999953	0.52396	D	1.155	0.29575	L	0.87	0.46412	T	-0.01	0.09135	N	0.467	0.58031	-0.9793	0.35162	T	0.123	0.42483	T	10	0.14493576	0.27499	T	0.025614	0.48579	D	0.058	0.16647	.	.	0.165150595986	0.16160	0.24651342883802793	0.24565	0.247225316815	0.27269	0.257394641638	0.04586	T	0.051865	0.29000	T	-0.217467	0.18340	T	-0.381025	0.35601	T	0.349899023771286	0.27015	T	0.931007	0.74830	D	0.09449622	0.22219	0.060985804	0.11703	0.09449622	0.22218	0.060985804	0.11702	-6.806	0.52603	T	.	.	0.074	0.06803	B	.;.;.;.;.;.	.;.;.;.;.;.	3.019178	0.40400	21.2	0.99860002982261409	0.93820	0.89724	0.50374	D	AEFBI	0.450934	0.50512	N	-0.145677997936712	0.35419	2.034155	-0.0567450820609263	0.37200	2.174881	0.117061160132798	0.16793	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	4.73	0.59485	3.924000	0.56191	4.790000	0.44894	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.0:0.8646:0.1354:0.0	15.855	0.78748	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2359.83	36	chr2	188584355	.	C	T	2359.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.284;DP=372;ExcessHet=0;FS=0.567;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.4;SOR=0.616	GT:AD:DP:GQ:PL	0/1:79,100:179:99:2370,0,1679	5	0	1	0
chr2	195754381	195754381	T	C	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon63:c.A11720G:p.Y3907C	.	430	1089	3	0	0	3	0.00137552	.	.	.	719495	DNAH7-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0106761640167	0.0060	0.00159744	0.0047	0.0010	0.0027	0.0001	0.0005	0.0074	0.0022	0.0012	0.0048576	751	154602	rs78583300	0.0071	0.0071	0.0071	0.0070	0.0086	0.0070	0.0069	0.0084	0.0084	0.0009	0.0035	0.0056	2.519e-05	0.0008	0.0038	0.0086	0.0054	0.0012	0.0048	0.0048	0.0051	0.0046	0.0080	0.0045	0.0044	0.0074	0.0072	0.0018	0.0011	0.0052	0.0046	0.0002	0.0008	0.0034	0.0080	0.0047	0.0004	0.001	0.78490	D	0.019	0.59159	D	0.996	0.68779	D	0.976	0.73562	D	0.000008	0.62929	D	0.063405	0.999979	0.53665	D	1.16	0.29674	L	3.1	0.08283	T	-6.82	0.92980	D	0.689	0.74826	-1.1653	0.00635	T	0.032	0.13635	T	10	0.01423794	0.00300	T	0.010676	0.27493	T	0.151	0.39764	.	.	0.495706241231	0.49207	0.7360897334927505	0.73553	0.244017115261	0.26914	0.666697025299	0.62366	T	0.046358	0.27401	T	-0.368827	0.03653	T	-0.294609	0.45291	T	0.0522586819699049	0.05892	T	0.963604	0.88895	D	0.56590676	0.70835	0.63134664	0.78493	0.52081996	0.68308	0.6452754	0.79263	-7.398	0.61560	T	.	.	0.177	0.38693	B	.;.	.;.	4.244275	0.64379	24.7	0.99823895470292179	0.90677	0.97528	0.75337	D	AEFGI	0.818813	0.73998	D	0.589436033559648	0.72514	5.817856	0.60441171798465	0.75261	6.279162	0.756387089018984	0.23440	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	3.411000	0.52425	4.132000	0.42036	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1422:0.0:0.0:0.8578	10.719	0.45226	929	0.16858	.;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.1667	1935.06	33	chr2	195754381	.	T	C	1935.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.735;DP=288;ExcessHet=0.4139;FS=0.609;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.12;SOR=0.603	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1040,0,659	4	0	2	0
chr2	195960302	195960302	A	G	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon18:c.T2849C:p.M950T	.	439	1081	2	0	0	2	0.000924214	.	.	.	3190209	DNAH7-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.829	.	.	0.00279553	0.0008	0.0001	0	0	0	3.01e-05	0.0011	0.0056	0.0007244	112	154602	rs531993818	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0003	0.0038	0.0037	0	0	0	2.52e-05	0	0	2.698e-05	0.0004	0.0042	0.0002	0.0002	0.0001	0.0003	0.0073	0.0002	0.0001	0.0054	0.0047	0	0	0	0	0	0	0	0	0	0.0073	0.001	0.78490	D	.	.	.	0.999	0.77913	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.25	0.98048	H	-0.17	0.65563	T	-5.84	0.88431	D	0.94	0.94668	0.502	0.90579	D	0.592	0.85425	D	10	0.042783886	0.03061	T	.	.	.	0.829	0.94579	0.843	0.94784	0.540970351286	0.53750	0.8382348530395138	0.83783	0.244108975002	0.26919	0.749585747719	0.74385	T	0.459239	0.79690	T	0.000893146	0.51777	T	0.228773	0.84612	D	0.224342668826181	0.21678	T	0.975702	0.91457	D	0.93431646	0.94670	0.9590428	0.98920	0.93431646	0.94671	0.9590428	0.98921	-9.206	0.69013	D	.	.	0.904	0.83015	P	.	.	3.685207	0.52475	23.2	0.9934375227822787	0.60291	0.99344	0.94786	D	AEFI	0.906735	0.85987	D	1.03355316753595	0.96686	15.00938	0.945806938768948	0.97277	15.86383	0.999546160208281	0.40300	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	5.64	0.86480	9.297000	0.95224	11.155000	0.87468	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.526	0.75641	917	0.20147	Dynein heavy chain, domain-2	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1015.83	33	chr2	195960302	.	A	G	1015.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.019;DP=274;ExcessHet=0;FS=0.783;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=1.27;SOR=0.828	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1026,0,1432	5	0	1	0
chr2	215333431	215333431	T	A	exonic	ATIC	.	nonsynonymous SNV	ATIC:NM_004044:exon9:c.T896A:p.I299N	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.166441564802	.	.	2.471e-05	0	8.639e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs777028878	1.231e-05	1.231e-05	4.084e-06	2.063e-05	0.0002	7.7e-06	6.35e-06	9.791e-05	7.838e-05	0	0	0	0	0	0	3.597e-06	0	0.0002	1.315e-05	1.314e-05	0	2.692e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.601	0.39346	P	0.57	0.49854	P	0.022064	0.26706	N	0.421784	0.999544	0.21009	N	2.71	0.79292	M	-1.51	0.81399	D	-4.68	0.79659	D	0.664	0.67304	-0.0169	0.81903	T	0.620	0.86601	D	10	0.96587676	0.96070	D	0.166442	0.84506	D	0.522	0.79704	0.847	0.95025	0.76359754505	0.76143	0.8462218189206467	0.84583	0.286173745657	0.31023	0.278636813164	0.07304	T	0.714452	0.91880	D	-0.0451465	0.45181	T	-0.0999723	0.63400	T	0.89344322681427	0.54467	D	0.987751	0.95824	D	0.8306699	0.85949	0.76298255	0.85997	0.8306699	0.85950	0.76298255	0.85998	-8.683	0.66525	D	0.22429183492237345	0.30289	0.601	0.70056	P	.;.	.;.	3.236889	0.44165	21.9	0.98855225681011705	0.47373	0.97611	0.75892	D	AEFDBI	0.746429	0.68880	D	0.257388636759128	0.54006	3.567271	0.200985006067389	0.49902	3.188032	0.999999999909955	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	6.273000	0.72598	2.823000	0.34975	0.660000	0.55035	0.995000	0.38783	0.236000	0.23818	0.011000	0.09372	0.0:0.0:0.0:1.0	16.108	0.81044	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	2749.0	67	chr2	215333431	.	T	A	2749.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.985;DP=276;ExcessHet=0;FS=2.836;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=20.21;ReadPosRankSum=0.382;SOR=0.412	GT:AD:DP:GQ:PL	0/1:30,39:69:99:922,0,734	4	1	1	0
chr2	218263497	218263497	G	A	exonic	GPBAR1	.	nonsynonymous SNV	GPBAR1:NM_001077191:exon2:c.G773A:p.G258E,GPBAR1:NM_001077194:exon2:c.G773A:p.G258E,GPBAR1:NM_001321950:exon2:c.G773A:p.G258E,GPBAR1:NM_170699:exon2:c.G773A:p.G258E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00432565334512	.	.	4.295e-05	0	0	0	0	7.756e-05	0	0	2.59e-05	4	154602	rs767999122	6.17e-06	6.156e-06	8.184e-06	4.135e-06	7.199e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.199e-06	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	0.028	0.54934	D	0.008	0.14655	B	0.009	0.14300	B	0.005967	0.32369	U	0.253800	0.815766	0.34704	D	0.35	0.11930	N	1.22	0.37052	T	-0.35	0.12847	N	0.153	0.15749	-1.0440	0.16118	T	0.056	0.23565	T	10	0.0821282	0.13521	T	0.004326	0.10498	T	0.017	0.02790	0.373	0.38503	0.386558576397	0.38273	0.5562134728474999	0.55548	0.056727989804	0.06270	0.526169538498	0.42496	T	0.060981	0.31532	T	-0.219988	0.17994	T	-0.417863	0.31321	T	0.120326938888494	0.14462	T	0.587441	0.21491	T	0.08528062	0.19776	0.119659066	0.28880	0.08528062	0.19775	0.119659066	0.28880	-5.299	0.39933	T	.	.	0.093	0.14523	B	.;.;.;.	.;.;.;.	1.778564	0.22614	15.69	0.91708935850823203	0.21003	0.68191	0.33709	D	AEFDBCI	0.203436	0.32995	N	-0.552018637542195	0.20421	1.076361	-0.485316463405955	0.22557	1.225783	0.999999748103505	0.74766	0.372202	0.05800	0	0.379588	0.06130	0	0.573078	0.19857	0	0.491896	0.07777	0	.	.	5.29	3.48	0.38946	1.641000	0.36812	5.163000	0.47799	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.1784:0.0:0.525:0.2966	4.063	0.09325	885	0.28214	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	933.83	35	chr2	218263497	.	G	A	933.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.413;DP=245;ExcessHet=0;FS=3.301;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.51;SOR=1.021	GT:AD:DP:GQ:PL	0/1:31,36:67:99:944,0,746	5	0	1	0
chr2	218642875	218642875	C	T	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon7:c.G3641A:p.R1214Q,ZNF142:NM_001105537:exon8:c.G3641A:p.R1214Q,ZNF142:NM_001366290:exon8:c.G4241A:p.R1414Q,ZNF142:NM_001379662:exon8:c.G3641A:p.R1214Q,ZNF142:NM_001366287:exon9:c.G3152A:p.R1051Q,ZNF142:NM_001366288:exon9:c.G3152A:p.R1051Q,ZNF142:NM_001366289:exon9:c.G3152A:p.R1051Q,ZNF142:NM_001379659:exon9:c.G4241A:p.R1414Q,ZNF142:NM_001379660:exon9:c.G4241A:p.R1414Q,ZNF142:NM_001379661:exon9:c.G4241A:p.R1414Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0303446699603	.	.	1.66e-05	0.0001	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs759767143	4.72e-05	4.72e-05	4.765e-05	4.675e-05	5.845e-05	3.794e-05	3.476e-05	4.699e-05	4.281e-05	0	0	0	0	0	0	5.845e-05	4.967e-05	1.159e-05	3.941e-05	3.94e-05	3.853e-05	4.034e-05	6.541e-05	1.715e-05	1.129e-05	1.171e-05	6.25e-06	4.824e-05	0	6.541e-05	0	0	0	0	4.409e-05	0	0	0.045	0.40832	D	0.161	0.31326	T	0.999	0.77913	D	0.986	0.76916	D	0.000008	0.62929	D	0.062964	0.999359	0.46766	D	-0.36	0.03115	N	0.2	0.60111	T	-1.31	0.32791	N	0.465	0.50146	-0.7714	0.56781	T	0.203	0.56045	T	10	0.36640605	0.53136	T	0.030345	0.52677	D	0.216	0.50959	0.259	0.20159	0.743021431451	0.74071	0.3292646352977007	0.32839	0.255360491483	0.28129	0.777880787849	0.78609	T	0.030506	0.21607	T	-0.079952	0.39723	T	-0.337136	0.40668	T	0.625508666038513	0.37432	D	0.950905	0.81262	D	0.19999674	0.41960	0.1658128	0.38340	0.19999674	0.41960	0.1658128	0.38339	-4.422	0.29853	T	.	.	0.847	0.79621	P	.;.	.;.	5.031074	0.83682	28.1	0.99947369079387016	0.99913	0.96080	0.67442	D	AEFBCI	0.818344	0.73962	D	0.396619607245969	0.61239	4.322279	0.437415157029933	0.63912	4.634808	0.999887340164913	0.44867	0.562547	0.31514	0	0.577304	0.33150	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.22	4.33	0.51083	4.029000	0.56964	7.726000	0.67550	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.8629:0.1371:0.0	15.716	0.77425	917	0.20147	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1124.83	36	chr2	218642875	.	C	T	1124.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.48;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.916;SOR=0.66	GT:AD:DP:GQ:PL	0/1:58,44:102:99:1135,0,1360	5	0	1	0
chr2	236419198	236419198	T	C	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270585:exon8:c.A1106G:p.Q369R,IQCA1:NM_024726:exon8:c.A1085G:p.Q362R	.	658	857	6	1	0	8	0.00464576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0008	0.0363419	0.0160	0.0025	0.0188	0.1067	0.0083	0.0006	0.0175	0.0305	0.0045989	711	154602	rs3754644	0.0061	0.0061	0.0055	0.0068	0.1164	0.0060	0.0060	0.1134	0.1122	0.0019	0.0278	7.977e-05	0.1164	0.0054	0.0024	0.0002	0.0086	0.0305	0.0083	0.0083	0.0070	0.0096	0.1237	0.0079	0.0077	0.1158	0.1126	0.0026	0	0.0155	0	0.1237	0.0040	0.0034	0.0003	0.0057	0.0398	0.094	0.31383	T	0.193	0.29639	T	0.017	0.17573	B	0.002	0.06944	B	0.197305	0.16690	N	0.571308	1	0.08975	P	.	.	.	-3.19	0.93170	D	-0.3	0.11913	N	0.029	0.01347	-0.8804	0.49730	T	0.005	0.01833	T	9	0.0019504428	0.00027	T	.	.	.	0.181	0.45247	.	.	.	.	0.04755829506110387	0.04698	0.0818412678812	0.09219	0.367023050785	0.20404	T	9.15E-4	0.00471	T	-0.431825	0.01445	T	-0.296346	0.45110	T	0.00487397941715818	0.00052	T	0.390461	0.09684	T	0.047121234	0.08001	0.06595874	0.13445	0.047121234	0.08001	0.06595874	0.13444	-4.842	0.35077	T	.	.	0.093	0.14842	B	.;.	.;.	0.509229	0.08783	5.558	0.60940680663833757	0.06586	0.03981	0.09396	N	AEFGBI	0.044839	0.07264	N	-1.09775849660183	0.06684	0.3084028	-1.11680872447812	0.07378	0.3586908	1.86193992698828E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.52	2.34	0.28071	0.462000	0.21667	1.238000	0.25088	-0.147000	0.12262	0.001000	0.13787	0.004000	0.18990	0.011000	0.09372	0.0:0.0:0.2343:0.7657	6.982	0.23889	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003802	0.000000	0.000000	0.004902	0.000000	0.000000	0.000000	0.027273	0.1667	704.06	29	chr2	236419198	.	T	C	704.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.19;DP=173;ExcessHet=0.4139;FS=1.023;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0;SOR=0.52	GT:AD:DP:GQ:PL	0/1:17,24:41:99:627,0,360	4	0	2	0
chr2	238140974	238140974	G	A	exonic	KLHL30	.	nonsynonymous SNV	KLHL30:NM_198582:exon2:c.G220A:p.V74M	.	433	1088	1	0	0	1	0.000459348	.	.	.	3987381	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.659	0.284932272533	7.8e-05	.	7.567e-05	0	0	0	0	3.06e-05	0	0.0004	6.47e-05	10	154602	rs368732409	6.986e-05	7.046e-05	4.361e-05	9.638e-05	0.0007	5.854e-05	5.464e-05	0.0006	0.0005	0	6.71e-05	0	0	1.919e-05	0	2.519e-05	9.945e-05	0.0007	4.598e-05	4.596e-05	5.137e-05	4.033e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.973e-05	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0.0006	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.63	0.94006	H	-0.45	0.69896	T	-2.61	0.56144	D	0.809	0.80473	0.437	0.89639	D	0.619	0.86547	D	10	0.82127076	0.81330	D	0.284932	0.90363	D	0.659	0.87234	.	.	0.764836645566	0.76268	0.7711574937301169	0.77065	0.665772069832	0.59162	0.726095676422	0.70936	T	0.60496	0.87394	D	0.0320071	0.55989	T	0.157631	0.80661	D	0.964119732379913	0.66860	D	0.944706	0.79020	D	0.90456074	0.91794	0.8795228	0.93529	0.90456074	0.91795	0.8795228	0.93529	-10.476	0.76709	D	.	.	0.618	0.69608	P	.	.	4.929189	0.81258	27.5	0.99888822383816167	0.96359	0.99151	0.91979	D	AEFDBI	0.885818	0.81667	D	0.977394355713435	0.95007	13.22709	0.880533416666877	0.94667	12.94355	1.0	0.98316	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	5.75	0.90390	9.881000	0.98507	9.644000	0.81155	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.205000	0.22041	0.0:0.0:1.0:0.0	18.713	0.91628	969	0.06854	BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.08333	1846.83	68	chr2	238140974	.	G	A	1846.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3;DP=403;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.384;SOR=0.674	GT:AD:DP:GQ:PL	0/1:64,72:136:99:1857,0,1314	5	0	1	0
chr2	240783782	240783782	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001244008:exon8:c.G755A:p.S252N,KIF1A:NM_001320705:exon8:c.G755A:p.S252N,KIF1A:NM_001330289:exon8:c.G755A:p.S252N,KIF1A:NM_001330290:exon8:c.G755A:p.S252N,KIF1A:NM_001379631:exon8:c.G755A:p.S252N,KIF1A:NM_001379632:exon8:c.G755A:p.S252N,KIF1A:NM_001379633:exon8:c.G755A:p.S252N,KIF1A:NM_001379634:exon8:c.G755A:p.S252N,KIF1A:NM_001379635:exon8:c.G755A:p.S252N,KIF1A:NM_001379636:exon8:c.G755A:p.S252N,KIF1A:NM_001379637:exon8:c.G755A:p.S252N,KIF1A:NM_001379638:exon8:c.G755A:p.S252N,KIF1A:NM_001379639:exon8:c.G755A:p.S252N,KIF1A:NM_001379640:exon8:c.G755A:p.S252N,KIF1A:NM_001379641:exon8:c.G755A:p.S252N,KIF1A:NM_001379642:exon8:c.G755A:p.S252N,KIF1A:NM_001379645:exon8:c.G755A:p.S252N,KIF1A:NM_001379646:exon8:c.G755A:p.S252N,KIF1A:NM_001379648:exon8:c.G755A:p.S252N,KIF1A:NM_001379649:exon8:c.G755A:p.S252N,KIF1A:NM_001379650:exon8:c.G755A:p.S252N,KIF1A:NM_001379651:exon8:c.G755A:p.S252N,KIF1A:NM_001379653:exon8:c.G755A:p.S252N,KIF1A:NM_004321:exon8:c.G755A:p.S252N	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.825179253604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.892	0.49086	P	0.675	0.53279	P	0.000624	0.42799	U	0.243448	1	0.81001	D	3.585	0.93597	H	-1.58	0.81987	D	-2.55	0.58407	D	0.861	0.90251	0.828	0.94753	D	0.765	0.92002	D	10	0.9707978	0.96675	D	0.825179	0.98642	D	0.707	0.89514	0.843	0.94784	0.856394551767	0.85501	0.9977420874183616	0.99773	2.150824523	0.95316	0.779764413834	0.78891	T	0.908021	0.98246	D	0.161623	0.70351	D	-0.00561668	0.69970	D	0.992265641689301	0.82702	D	0.958704	0.86020	D	0.71956587	0.79137	0.69466484	0.82024	0.71956587	0.79138	0.69466484	0.82025	-13.609	0.91717	D	0.9491970964222244	0.98160	0.992	0.96865	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.740032	0.76438	26.5	0.99549718333739579	0.71086	0.77881	0.38346	D	AEFDBCI	0.705702	0.66101	D	0.557794859974276	0.70559	5.519172	0.44735992656668	0.64547	4.712403	0.999999996498318	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	3.41	3.41	0.38145	7.670000	0.82907	7.525000	0.59824	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.380000	0.26335	0.0:1.0:0.0:0.0	15.199	0.72808	988	0.01987	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain, conserved site|Kinesin motor domain|Kinesin motor domain;.;.;.;.;.;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain, conserved site|Kinesin motor domain|Kinesin motor domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	278.59	83	chr2	240783782	.	C	T	278.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.977;DP=475;ExcessHet=1.383;FS=240.41;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.388;SOR=8.932	GT:AD:DP:GQ:PL	0/1:90,33:123:45:45,0,1446	2	0	3	1
chr3	9947665	9947665	G	A	exonic	PRRT3	.	nonsynonymous SNV	PRRT3:NM_207351:exon4:c.C1508T:p.A503V	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.037252130777	.	0.000399361	0.0002	0	0	0	0	4.374e-05	0	0.0009	5.17e-05	8	154602	rs573152783	2.902e-05	3.283e-05	1.962e-05	3.863e-05	0.0004	2.159e-05	1.944e-05	0.0003	0.0003	0	0	0	0	0	0	4.587e-06	1.718e-05	0.0004	4.595e-05	5.249e-05	5.138e-05	4.027e-05	0.0010	2.107e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	0.005	0.63226	D	0.078	0.42261	T	0.998	0.73220	D	0.955	0.69585	D	0.002159	0.37138	N	0.183733	0.998246	0.44674	D	1.645	0.42016	L	2.36	0.16089	T	-1.26	0.31778	N	0.508	0.53972	-1.0897	0.05582	T	0.057	0.24055	T	9	0.16257775	0.30466	T	0.037252	0.57503	D	0.154	0.40340	0.221	0.14371	0.158540857583	0.15491	0.25687869368407756	0.25601	0.526887597323	0.50308	0.776511311531	0.78402	T	0.012538	0.11001	T	-0.305071	0.08189	T	-0.372861	0.36554	T	0.42895033955574	0.30022	T	0.744226	0.36418	T	0.14853579	0.33905	0.117525086	0.28370	0.14853579	0.33905	0.117525086	0.28370	-4.979	0.36611	T	.	.	0.221	0.45174	B	.	.	3.522544	0.49381	22.8	0.99892660335796468	0.96666	0.19757	0.20784	N	AEFDGBCI	0.240774	0.36250	N	0.0746544749025371	0.45282	2.787397	0.0289489432973313	0.41065	2.460952	0.999999999999116	0.74766	0.652421	0.48094	0	0.577304	0.33150	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	5.14	5.14	0.70008	4.679000	0.61339	6.983000	0.57133	0.590000	0.31872	0.994000	0.38300	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	16.162	0.81535	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	833.83	43	chr3	9947665	.	G	A	833.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.697;DP=264;ExcessHet=0;FS=3.14;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.296;SOR=1.143	GT:AD:DP:GQ:PL	0/1:42,36:78:99:844,0,1171	5	0	1	0
chr3	14514460	14514460	G	A	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon12:c.C1325T:p.T442M	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.000399361	0.0030	0.0004	0.0008	0.0036	0.0020	0.0041	0	0.0021	0.0010414	161	154602	rs181479678	0.0019	0.0019	0.0019	0.0018	0.0020	0.0018	0.0018	0.0019	0.0019	0.0002	0.0010	0.0037	0.0015	0.0008	0.0007	0.0020	0.0022	0.0020	0.0012	0.0012	0.0011	0.0012	0.0020	0.0011	0.0010	0.0017	0.0016	0.0002	0	0.0007	0.0037	0.0008	0.0003	0	0.0020	0.0009	0.0015	.	.	.	0.03	0.57104	D	0.624	0.40023	P	0.097	0.30390	B	.	.	.	.	.	.	.	1.305	0.32671	L	.	.	.	.	.	.	0.198	0.21839	.	.	.	.	.	.	.	0.020171791	0.00461	T	.	.	.	.	.	.	.	0.741229347079	0.73890	0.3952520998555336	0.39440	.	.	0.439755141735	0.30543	T	0.169436	0.51682	T	-0.0430156	0.45500	T	0.163645	0.81027	D	.	.	.	0.920608	0.71304	D	0.03293318	0.03412	0.11600511	0.28004	0.03293318	0.03412	0.11600511	0.28003	-10.472	0.76686	D	.	.	0.090	0.12655	B	.;.;.	.;.;.	2.880926	0.38127	20.7	0.88081805596012464	0.17703	0.94374	0.60962	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999995305308547	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.60726	0.40933	4.75	1.99	0.25423	5.000000	0.63685	5.000000	0.46590	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.203000	0.21983	0.2262:0.0:0.7738:0.0	9.697	0.39330	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	0.001046	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.003876	0.08333	501.83	36	chr3	14514460	.	G	A	501.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.369;DP=220;ExcessHet=0;FS=1.131;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-1.177;SOR=1.042	GT:AD:DP:GQ:PL	0/1:27,22:49:99:512,0,693	5	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	473.67	189	chr3	15003967	.	C	G	473.67	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-3.886;DP=807;ExcessHet=0.4139;FS=209.401;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=2.05;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,27:184:99:0|1:15003967_C_G:145,0,4821:15003967	2	0	2	2
chr3	20001515	20001515	C	T	exonic	PP2D1	.	nonsynonymous SNV	PP2D1:NM_001252657:exon2:c.G605A:p.C202Y	.	438	1055	28	1	0	30	0.0140187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	0.00339457	0.0108	0	0.0052	0	0	0.0033	0.0109	0.0184	0.0013195	204	154602	rs201179163	0.0019	0.0018	0.0014	0.0025	0.0176	0.0019	0.0019	0.0168	0.0165	0.0002	0.0013	0.0058	5.598e-05	8.837e-05	0.0083	0.0008	0.0026	0.0176	0.0015	0.0015	0.0014	0.0017	0.0182	0.0014	0.0013	0.0152	0.0140	0.0002	0	0.0006	0.0072	0.0002	0	0.0068	0.0014	0.0043	0.0182	0.002	0.72154	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999209	0.46326	D	2.365	0.68172	M	3.03	0.08898	T	-6.7	0.92476	D	0.595	0.61426	-1.1193	0.02376	T	0.086	0.33326	T	9	0.008970618	0.00203	T	.	.	.	0.267	0.58126	.	.	0.202086224978	0.19791	0.7337626627760373	0.73321	.	.	0.710023999214	0.68596	T	0.026925	0.19825	T	-0.310113	0.07739	T	-0.203953	0.54271	T	0.101572254474112	0.12529	T	0.759024	0.38317	T	0.81179506	0.84672	0.7956814	0.87999	0.81179506	0.84674	0.7956814	0.88000	-7.091	0.54696	T	.	.	0.482	0.63773	A	.	.	3.600865	0.50864	23.0	0.98705652240780417	0.44967	0.93095	0.57315	D	AEFI	0.591743	0.58772	D	0.513139601895966	0.67865	5.139165	0.470324312323993	0.66033	4.899592	0.999994891206871	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.71	5.71	0.89031	3.003000	0.49192	4.683000	0.44330	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.069000	0.16583	0.0:1.0:0.0:0.0	19.854	0.96746	701	0.57775	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1809.83	33	chr3	20001515	.	C	T	1809.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.346;DP=391;ExcessHet=0;FS=13.354;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.059;SOR=0.469	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1820,0,2130	5	0	1	0
chr3	40189855	40189855	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284426:exon8:c.G496A:p.G166R,MYRIP:NM_001284425:exon9:c.G790A:p.G264R,MYRIP:NM_001284423:exon10:c.G1057A:p.G353R,MYRIP:NM_001284424:exon10:c.G1057A:p.G353R,MYRIP:NM_015460:exon10:c.G1057A:p.G353R	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.0505735074257	0.0002	.	0.0008	0	0.0002	0	0	0.0004	0	0.0041	0.0006598	102	154602	rs151142713	0.0004	0.0004	0.0003	0.0005	0.0066	0.0004	0.0004	0.0049	0.0044	0	8.957e-05	0	2.52e-05	3.759e-05	0.0066	0.0002	0.0006	0.0033	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	0	0	0	0	0.0002	0	0	0.0002	0	0.0023	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.054221	0.999707	0.48408	D	2.72	0.79541	M	1.56	0.29602	T	-4.35	0.79571	D	0.674	0.79792	-0.9821	0.34515	T	0.146	0.47038	T	9	0.022714823	0.00575	T	0.050574	0.64299	D	0.333	0.65522	0.465	0.53566	0.550717487069	0.54728	0.34709370442562215	0.34623	0.569308612202	0.53113	0.709820210934	0.68567	T	0.209256	0.56943	T	-0.363599	0.03930	T	-0.297797	0.44958	T	0.169856835708151	0.18571	T	0.90001	0.65919	D	0.591905	0.72254	0.5492331	0.73939	0.591905	0.72255	0.5492331	0.73939	-9.842	0.72960	D	.	.	0.581	0.74739	P	.;.;.;.;.	.;.;.;.;.	4.185683	0.63049	24.5	0.99867280516764223	0.94547	0.97607	0.75865	D	AEFBI	0.904244	0.85429	D	0.357511716201636	0.59138	4.090716	0.317366859466169	0.56559	3.819485	0.992772833971725	0.32963	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.94	4.13	0.47661	7.575000	0.81761	11.742000	0.95215	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.422000	0.27272	0.0747:0.0:0.7831:0.1421	9.494	0.38141	839	0.37672	Rab effector MyRIP/Melanophilin;Rab effector MyRIP/Melanophilin;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.25	6461.0	33	chr3	40189855	.	G	A	6461.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.17;DP=447;ExcessHet=0;FS=0.977;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=21.18;ReadPosRankSum=0.472;SOR=0.761	GT:AD:DP:GQ:PL	0/1:82,65:147:99:1659,0,1984	4	1	1	0
chr3	42690989	42690989	C	A	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon5:c.C1738A:p.L580I	Nemaline myopathy 8, autosomal recessive	418	1070	32	2	0	36	0.0165441	.	.	.	251129	not_provided|Nemaline_myopathy_8|not_specified	MedGen:C3661900|MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.272	.	0.0004	0.00479233	0.0038	9.827e-05	0.0005	0.0001	0	0.0008	0.0047	0.0274	0.0032794	507	154602	rs149980411	0.0018	0.0018	0.0011	0.0025	0.0239	0.0017	0.0017	0.0230	0.0227	0	0.0001	0.0029	2.521e-05	0	0.0096	0.0003	0.0020	0.0239	0.0010	0.0010	0.0007	0.0013	0.0208	0.0009	0.0008	0.0175	0.0162	7.222e-05	0	0.0003	0.0014	0	0	0	0.0005	0.0014	0.0208	0.261	0.16520	T	0.215	0.26306	T	0.008	0.14655	B	0.026	0.20792	B	0.000085	0.51296	U	0.127465	0.99482	0.42431	D	1.815	0.47718	L	-1.48	0.81150	T	-0.28	0.11547	N	0.44	0.47857	-0.5877	0.65312	T	0.284	0.65635	T	10	0.009362847	0.00211	T	.	.	.	0.272	0.58758	.	.	0.738588929954	0.73624	0.2937168994251502	0.29284	0.102050073471	0.11557	0.662876725197	0.61821	T	0.205325	0.56435	T	-0.359828	0.04139	T	-0.271391	0.47679	T	0.0191029594303526	0.00618	T	0.848715	0.53056	T	0.2388014	0.46762	0.19560993	0.43247	0.29865474	0.52783	0.20800094	0.45082	-5.193	0.38871	T	.	.	0.152	0.33619	B	.	.	3.086661	0.41541	21.4	0.97551240314746535	0.34571	0.73558	0.35980	D	AEFDBI	0.271109	0.38703	N	-0.301754593104283	0.29081	1.609612	-0.158357806851571	0.33088	1.889097	0.992624007477833	0.32908	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.77	2.86	0.32427	3.036000	0.49457	5.888000	0.50725	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9049:0.0:0.0951	10.841	0.45918	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007056	0.000000	0.005435	0.011696	0.000000	0.000000	0.009202	0.015152	0.08333	569.83	36	chr3	42690989	.	C	A	569.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.465;DP=227;ExcessHet=0;FS=2.738;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.74;SOR=0.368	GT:AD:DP:GQ:PL	0/1:26,22:48:99:580,0,765	5	0	1	0
chr3	44243954	44243954	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A1448G:p.Q483R	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0028	0.00579073	0.0037	0.0089	0.0044	0	0	0.0022	0.0039	0.0051	0.0009961	154	154602	rs17076541	0.0013	0.0013	0.0012	0.0014	0.0298	0.0013	0.0012	0.0261	0.0247	0.0105	0.0023	0.0023	0	0	0.0298	0.0007	0.0029	0.0032	0.0035	0.0035	0.0033	0.0036	0.0088	0.0032	0.0031	0.0081	0.0078	0.0088	0	0.0025	0.0017	0	0	0.0170	0.0012	0.0043	0.0043	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.911959	0.07421	N	1.038110	1	0.08975	N	-0.205	0.04094	N	3.14	0.07920	T	1.27	0.00985	N	0.047	0.01911	-0.9259	0.44730	T	0.008	0.02638	T	10	0.0025490224	0.00039	T	.	.	.	0.035	0.08770	.	.	0.0482279557977	0.04254	0.21658741482236482	0.21574	.	.	0.221319049597	0.01388	T	8.32E-4	0.00412	T	-0.730454	0.00024	T	-0.814062	0.01576	T	0.0055632490905544	0.00061	T	0.524548	0.17205	T	0.039508287	0.05469	0.0520892	0.08514	0.039508287	0.05469	0.0520892	0.08514	-3.388	0.14896	T	.	.	0.067	0.02399	B	.	.	-0.212529	0.03027	0.463	0.32374395834308728	0.01872	0.01430	0.04814	N	AEFDBI	0.030791	0.03167	N	-1.35093760866715	0.03115	0.1386367	-1.27041351859735	0.04836	0.2290646	0.00976757613190134	0.11910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.55	-3.29	0.04706	-0.026000	0.12340	-0.162000	0.11313	-0.208000	0.08445	0.426000	0.26377	0.000000	0.08366	0.843000	0.39806	0.4055:0.0:0.5945:0.0	13.357	0.60075	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024752	0.021277	0.068966	0.057522	0.000000	0.000000	0.005882	0.000000	0.08333	1413.83	40	chr3	44243954	.	A	G	1413.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.12;DP=352;ExcessHet=0;FS=7.865;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.379;SOR=1.173	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1424,0,2098	5	0	1	0
chr3	44244892	44244892	A	G	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A2386G:p.K796E	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0083	0.0109824	0.0057	0.0281	0.0052	0	0	0.0024	0.0042	0.0051	0.0015524	240	154602	rs17076545	0.0018	0.0018	0.0018	0.0019	0.0302	0.0018	0.0018	0.0265	0.0251	0.0266	0.0034	0.0023	0	0	0.0302	0.0008	0.0042	0.0032	0.0085	0.0085	0.0087	0.0082	0.0259	0.0081	0.0079	0.0246	0.0241	0.0259	0	0.0043	0.0017	0	0	0.0204	0.0013	0.0099	0.0044	0.008	0.58626	D	0.0	0.92824	D	0.763	0.43659	P	0.242	0.38699	B	.	.	.	.	1	0.08975	N	1.795	0.47270	L	2.68	0.12371	T	-1.55	0.37566	N	0.255	0.28849	-1.0370	0.18233	T	0.009	0.03011	T	9	0.003294468	0.00057	T	.	.	.	0.078	0.22779	.	.	0.0716867268079	0.06686	0.2982062153470853	0.29733	.	.	0.336203336716	0.15869	T	0.011622	0.10346	T	-0.586762	0.00175	T	-0.593989	0.13322	T	0.0180266410121894	0.00526	T	0.639636	0.25265	T	0.20178348	0.42200	0.18954335	0.42307	0.20178348	0.42200	0.18954335	0.42306	-3.889	0.22137	T	.	.	0.083	0.09385	B	.	.	1.950725	0.24781	16.52	0.99123435050489805	0.53063	0.11872	0.16915	N	AEDBI	0.054050	0.09793	N	-0.191757305705605	0.33477	1.899678	-0.177528634749536	0.32366	1.840599	0.954957825442561	0.28161	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.74	4.6	0.56512	1.477000	0.35039	5.575000	0.48953	0.691000	0.84096	0.006000	0.17386	1.000000	0.68203	0.814000	0.38357	0.8578:0.0:0.1422:0.0	8.843	0.34314	345	0.85689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.030380	0.026596	0.090909	0.057522	0.000000	0.000000	0.011765	0.000000	0.08333	1867.83	40	chr3	44244892	.	A	G	1867.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=337;ExcessHet=0;FS=3.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.77;SOR=0.618	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1878,0,1997	5	0	1	0
chr3	44421810	44421810	A	T	exonic	C3orf86	.	startloss	C3orf86:NM_001351480:exon2:c.T2A:p.M1?,C3orf86:NM_001375977:exon2:c.T2A:p.M1?,C3orf86:NM_001351479:exon3:c.T2A:p.M1?,C3orf86:NM_001375995:exon3:c.T2A:p.M1?,C3orf86:NM_001375997:exon3:c.T2A:p.M1?,C3orf86:NM_001375996:exon4:c.T2A:p.M1?	.	1009	509	4	0	0	4	0.00391389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00898562	.	.	.	.	.	.	.	.	0.0036115	94	26028	rs112666989	0	8.111e-05	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0052	0.0052	0.0050	0.0054	0.0144	0.0049	0.0048	0.0134	0.0130	0.0144	0	0.0032	0.0017	0	0	0.0204	0.0014	0.0071	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	.	.	.	.	.	.	.	.	0.08333	1516.83	33	chr3	44421810	.	A	T	1516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=296;ExcessHet=0;FS=5.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-0.554;SOR=0.546	GT:AD:DP:GQ:PL	0/1:53,61:114:99:1527,0,1221	5	0	1	0
chr3	48633489	48633489	C	T	exonic	SLC26A6	.	nonsynonymous SNV	SLC26A6:NM_001040454:exon1:c.G107A:p.R36Q,SLC26A6:NM_001281732:exon2:c.G170A:p.R57Q,SLC26A6:NM_001281733:exon2:c.G170A:p.R57Q,SLC26A6:NM_022911:exon2:c.G170A:p.R57Q,SLC26A6:NM_134263:exon2:c.G170A:p.R57Q,SLC26A6:NM_134426:exon2:c.G170A:p.R57Q	.	352	1169	1	0	0	1	0.000427533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.317813093777	8.2e-05	.	6.711e-05	0	8.669e-05	0	0	9.164e-05	0	6.067e-05	5.17e-05	8	154602	rs373621234	3.834e-05	3.899e-05	3.406e-05	4.266e-05	0.0003	3.028e-05	2.721e-05	0.0002	0.0001	2.987e-05	0.0003	0	0	0	0	3.418e-05	3.312e-05	2.319e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.014	0.53900	D	0.017	0.60972	D	0.98	0.59353	D	0.567	0.49782	P	.	.	.	.	0.999325	0.21358	N	1.7	0.43825	L	-3.05	0.93291	D	-1.53	0.41618	N	0.174	0.25622	-0.1540	0.78818	T	0.644	0.87587	D	9	0.14465734	0.27450	T	0.317813	0.91383	D	0.211	0.50185	.	.	0.543866918096	0.54039	0.34116466816365154	0.34029	0.203889626583	0.22805	0.410588741302	0.26538	T	0.028012	0.64329	T	-0.233679	0.16164	T	-0.288727	0.45904	T	0.0296258514828216	0.01932	T	0.79842	0.45619	T	0.050487805	0.09128	0.06091124	0.11678	0.050487805	0.09127	0.06091124	0.11677	-6.072	0.46877	T	.	.	0.080	0.11606	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.502857	0.19314	14.20	0.98080982761235502	0.38110	0.27328	0.23246	N	AEFGBI	0.146873	0.27043	N	-0.822044388853721	0.12747	0.6233775	-0.835347231493405	0.13640	0.708687	0.999908860372454	0.45458	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.62	0.829	0.17984	-0.013000	0.12615	-0.071000	0.12298	-1.736000	0.00708	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2003:0.5194:0.0:0.2803	4.727	0.12326	5	0.99359	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	98.83	34	chr3	48633489	.	C	T	98.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.545;DP=275;ExcessHet=0;FS=43.946;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.421;SOR=5.418	GT:AD:DP:GQ:PL	0/1:82,14:96:99:109,0,2078	5	0	1	0
chr3	48642463	48642463	T	C	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon31:c.A8560G:p.N2854D	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.065014562234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.14159	T	0.16	0.31427	T	0.181	0.29111	B	0.084	0.29270	B	.	.	.	.	0.999989	0.54805	D	0.955	0.23872	L	-0.44	0.69777	T	-0.45	0.14782	N	0.491	0.52475	-0.5664	0.66158	T	0.306	0.67722	T	9	0.21739817	0.38350	T	0.065015	0.69451	D	0.171	0.43483	0.278	0.23164	0.68468865495	0.68199	0.3572731980167617	0.35641	0.299326160503	0.32302	0.744699656963	0.73664	T	0.114119	0.43169	T	-0.0584118	0.43156	T	-0.321681	0.42391	T	0.723401427268982	0.41871	D	0.586341	0.21412	T	0.09609117	0.22626	0.12979598	0.31201	0.09609117	0.22626	0.12979598	0.31200	-2.882	0.08965	T	.	.	0.135	0.29311	B	.	.	3.439406	0.47839	22.5	0.99067697809349009	0.51645	0.88173	0.47984	D	AEFBI	0.430680	0.49328	N	0.0505674663363396	0.44168	2.695866	0.167199254198476	0.48060	3.02718	0.999999936418402	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.43	5.43	0.79006	5.073000	0.64223	6.118000	0.53749	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.765	0.77890	4	0.99387	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	884.83	35	chr3	48642463	.	T	C	884.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.703;DP=264;ExcessHet=0;FS=2.926;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.753;SOR=1.085	GT:AD:DP:GQ:PL	0/1:49,40:89:99:895,0,1239	5	0	1	0
chr3	48648802	48648802	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon18:c.C6694T:p.R2232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0356922659519	.	.	8.338e-06	0	0	0	0	1.525e-05	0	0	6.5e-06	1	154602	rs747131333	7.531e-06	7.524e-06	5.449e-06	9.634e-06	2.519e-05	4.04e-06	2.95e-06	3.1e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.194e-06	1.656e-05	1.159e-05	6.572e-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	0.006	0.61437	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.74104	D	.	.	.	.	1	0.81001	D	2.39	0.68882	M	2.87	0.10386	T	-4.68	0.79659	D	0.503	0.53532	-1.0704	0.09326	T	0.091	0.34765	T	9	0.53338546	0.63310	D	0.035692	0.56514	D	0.340	0.66202	0.519	0.62066	0.539767512765	0.53629	0.8065110304746658	0.80606	1.09446610139	0.77537	0.600993990898	0.53044	T	0.387511	0.74841	T	0.0793354	0.61963	D	-0.0601708	0.66320	T	0.985947370529175	0.76793	D	0.746525	0.36724	T	0.28145635	0.51188	0.2768039	0.53628	0.28145635	0.51188	0.2768039	0.53627	-7.833	0.59927	D	.	.	0.220	0.45086	B	.	.	5.251297	0.88165	29.5	0.99942566021444057	0.99824	0.98906	0.88443	D	AEFGBI	0.843293	0.76034	D	0.763135570117654	0.83758	8.101897	0.730402910401301	0.84684	8.361985	0.999999999996276	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.1	5.1	0.68917	6.250000	0.72387	4.469000	0.43488	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.517	0.90892	4	0.99387	GAIN domain, 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	.	.	.	.	.	.	.	.	0.1667	2166.06	34	chr3	48648802	.	G	A	2166.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.91;DP=292;ExcessHet=0.4139;FS=6.111;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-0.096;SOR=1.059	GT:AD:DP:GQ:PL	0/1:36,36:72:99:1017,0,831	4	0	2	0
chr3	49625133	49625133	C	T	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon2:c.C383T:p.T128M	.	431	1084	7	0	0	7	0.00321839	.	.	.	3210445	BSN-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.133	0.00461384012273	0.0007	0.000599042	0.0012	0.0005	0.0007	0	0.0003	0.0016	0	0.0012	0.0012419	192	154602	rs140421176	0.0016	0.0016	0.0015	0.0016	0.0033	0.0015	0.0015	0.0022	0.0018	0.0004	0.0006	3.912e-05	0	0.0001	0.0033	0.0018	0.0016	0.0014	0.0014	0.0014	0.0013	0.0015	0.0021	0.0013	0.0012	0.0017	0.0016	0.0008	0.0011	0.0021	0	0	0.0002	0.0102	0.0019	0.0014	0.0021	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.828	0.59497	P	0.000401	0.44960	D	0.189282	0.996916	0.43501	D	0.805	0.20218	L	2.15	0.19311	T	-1.47	0.35991	N	0.241	0.27197	-1.1212	0.02257	T	0.085	0.33043	T	10	0.013657153	0.00289	T	0.004614	0.11409	T	0.133	0.36157	.	.	0.147330786459	0.14319	0.20901534266754246	0.20817	0.288263752571	0.31236	0.488674342632	0.37254	T	0.183038	0.53525	T	-0.463491	0.00935	T	-0.445333	0.28213	T	0.0262934704786098	0.01445	T	0.842916	0.51943	T	0.123157874	0.28925	0.22053032	0.46831	0.123157874	0.28924	0.22053032	0.46830	-5.934	0.45724	T	.	.	0.079	0.07507	B	.	.	3.037946	0.40717	21.2	0.99424146665765722	0.63935	0.33979	0.24958	N	AEFBI	0.364751	0.45318	N	0.216904887222884	0.52018	3.378787	0.200439852296545	0.49871	3.185329	0.999945730420843	0.47345	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	0.382000	0.20364	1.634000	0.27755	0.599000	0.40250	0.014000	0.18986	0.895000	0.27885	0.994000	0.71098	0.0:1.0:0.0:0.0	19.047	0.93008	1	0.99630	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	2365.06	39	chr3	49625133	.	C	T	2365.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.28;DP=299;ExcessHet=0.4139;FS=4.962;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=1.41;SOR=0.732	GT:AD:DP:GQ:PL	0/1:32,34:66:99:1005,0,797	4	0	2	0
chr3	50343823	50343823	C	T	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon3:c.G229A:p.A77T,ZMYND10:NM_015896:exon3:c.G229A:p.A77T	Ciliary dyskinesia, primary, 22, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	393851	Primary_ciliary_dyskinesia_22|Primary_ciliary_dyskinesia|ZMYND10-related_disorder	MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.00712706899412	0.0008	0.000599042	0.0012	0.0004	0.0008	0	0	0.0016	0	0.0011	0.0012484	193	154602	rs146847253	0.0018	0.0018	0.0018	0.0017	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0006	0	2.519e-05	1.872e-05	0.0038	0.0021	0.0016	0.0011	0.0013	0.0013	0.0013	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0.0011	0.0019	0	0	0	0.0102	0.0020	0.0019	0.0010	0.338	0.13088	T	0.44	0.13872	T	0.005	0.12996	B	0.002	0.08700	B	0.368104	0.13569	N	0.749043	1	0.08975	N	0.605	0.15622	N	1.58	0.29085	T	-0.59	0.20358	N	0.331	0.37197	-1.0344	0.19046	T	0.045	0.19152	T	10	0.011636406	0.00253	T	0.007127	0.18896	T	0.037	0.09474	.	.	0.156986980423	0.15292	0.09890056742996664	0.09821	0.154575907448	0.17459	0.263797461987	0.05351	T	0.101597	0.40851	T	-0.510755	0.00497	T	-0.513225	0.20984	T	0.00220077275298536	0.00023	T	0.673733	0.29515	T	0.03614178	0.04390	0.05513085	0.09615	0.03614178	0.04390	0.05513085	0.09614	-2.24	0.05501	T	0.09928537317409401	0.07194	0.071	0.05060	B	.;.;.	.;.;.	0.162419	0.05527	1.989	0.74155081437159531	0.10590	0.19053	0.20509	N	AEFDBI	0.109365	0.21725	N	-0.979393416882191	0.09044	0.4264509	-0.972454653425125	0.10407	0.5239344	0.999991219532478	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.41	-3.87	0.03939	0.152000	0.16120	-1.318000	0.05730	-0.806000	0.03109	0.769000	0.29345	0.000000	0.08366	0.312000	0.24784	0.2727:0.1788:0.0:0.5485	6.740	0.22621	2	0.99499	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.1667	1611.06	36	chr3	50343823	.	C	T	1611.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.17;DP=297;ExcessHet=0.4139;FS=3.096;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.788;SOR=1.013	GT:AD:DP:GQ:PL	0/1:50,38:88:99:924,0,1214	4	0	2	0
chr3	51959599	51959599	G	C	exonic	PCBP4	.	nonsynonymous SNV	PCBP4:NM_020418:exon8:c.C440G:p.T147S,PCBP4:NM_033008:exon8:c.C569G:p.T190S,PCBP4:NM_033010:exon8:c.C569G:p.T190S,PCBP4:NM_001174100:exon9:c.C569G:p.T190S,PCBP4:NM_001363885:exon9:c.C569G:p.T190S	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00857773786312	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235415916	2.142e-06	2.052e-06	2.818e-06	1.447e-06	2.794e-05	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	2.794e-05	0	0	0	0	1.853e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.318	0.22138	T	0.146	0.35582	T	0.085	0.29860	B	0.039	0.26602	B	0.000020	0.62929	D	0.118165	0.614695	0.81001	D	1.01	0.25309	L	1.57	0.29866	T	-0.8	0.22078	N	0.226	0.27435	-1.0840	0.06591	T	0.065	0.26772	T	10	0.14093176	0.26783	T	0.008578	0.22680	T	0.081	0.23632	.	.	0.40722173914	0.40337	0.31403999929161797	0.31316	0.38769052009	0.40043	0.602040588856	0.53192	T	0.015126	0.15767	T	-0.246532	0.14527	T	-0.591902	0.13502	T	0.483665198087692	0.32032	T	0.630437	0.28992	T	0.10271392	0.24272	0.09518408	0.22564	0.10271392	0.24272	0.09518408	0.22563	-4.308	0.28288	T	.	.	0.066	0.15520	B	.;.;.;.;.;.	.;.;.;.;.;.	3.725017	0.53253	23.3	0.97997579830193138	0.37453	0.99425	0.95866	D	AEFDBI	0.882107	0.80997	D	0.00645727566708547	0.42149	2.534116	0.109646028265558	0.45039	2.774396	0.999999999973051	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	7.371000	0.78858	11.593000	0.93419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.743	0.85323	259	0.89842	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1228.83	34	chr3	51959599	.	G	C	1228.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.536;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.645;SOR=0.666	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1239,0,1407	5	0	1	0
chr3	52403782	52403782	A	G	exonic	BAP1	.	nonsynonymous SNV	BAP1:NM_004656:exon13:c.T1363C:p.S455P	Tumor predisposition syndrome, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	616978	BAP1-related_tumor_predisposition_syndrome|BAP1-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified	MONDO:MONDO:0013692,MedGen:C3280492,OMIM:614327,Orphanet:289539|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0252661968503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.294	0.21011	T	0.167	0.28604	B	0.092	0.30031	B	0.009494	0.30337	N	0.350430	0.860269	0.35375	D	0.55	0.14455	N	0.36	0.58029	T	-0.73	0.20576	N	0.537	0.59138	-0.9510	0.40799	T	0.102	0.37768	T	10	0.2766176	0.45225	T	0.025266	0.48245	D	0.175	0.44197	0.142	0.04556	0.676491819518	0.67374	0.427172256058725	0.42634	0.821985878554	0.67215	0.677788496017	0.63951	T	0.026039	0.19349	T	-0.0282433	0.47672	T	-0.278346	0.46973	T	0.521985277060856	0.33438	D	0.868913	0.57225	D	0.103645034	0.24498	0.1637373	0.37968	0.103645034	0.24498	0.1637373	0.37967	-3.532	0.16883	T	0.15932934397729956	0.19365	0.851	0.79829	P	.;.	.;.	2.880604	0.38118	20.7	0.99671100488917141	0.78587	0.89607	0.50180	D	AEFDBCI	0.696954	0.65512	D	-0.179903889833374	0.33972	1.933563	-0.0140680659973843	0.39078	2.311676	0.999986006427145	0.51787	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.05	3.61	0.40494	2.487000	0.44926	7.951000	0.75833	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4979:0.0:0.0:0.5021	11.047	0.47085	68	0.97118	Peptidase C12, ubiquitin carboxyl-terminal hydrolase;Peptidase C12, ubiquitin carboxyl-terminal hydrolase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	7641.0	33	chr3	52403782	.	A	G	7641.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.55;DP=482;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.047;SOR=0.673	GT:AD:DP:GQ:PL	0/1:69,85:154:99:2310,0,1696	4	1	1	0
chr3	58653691	58653691	C	T	exonic	FAM3D	.	nonsynonymous SNV	FAM3D:NM_138805:exon3:c.G104A:p.R35H	.	415	1089	18	0	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0068	0.00259585	0.0071	0.0018	0.0030	0.0001	0.0057	0.0107	0.0033	0.0032	0.0067981	1051	154602	rs13097314	0.0071	0.0071	0.0071	0.0071	0.0081	0.0070	0.0069	0.0080	0.0079	0.0010	0.0047	0.0005	0.0004	0.0069	0.0042	0.0081	0.0065	0.0030	0.0054	0.0054	0.0056	0.0051	0.0085	0.0051	0.0049	0.0079	0.0077	0.0015	0	0.0062	0.0006	0.0002	0.0057	0	0.0085	0.0052	0.0027	0.105	0.47320	T	0.292	0.20877	T	0.992	0.64738	D	0.599	0.50715	P	0.008602	0.30756	N	0.262588	0.619856	0.32695	D	2.005	0.54552	M	0.6	0.53731	T	-1.2	0.40082	N	0.289	0.32701	-0.8114	0.54466	T	0.115	0.40763	T	10	0.0070091486	0.00159	T	.	.	.	0.063	0.18251	.	.	0.607205898885	0.60405	0.42217253051544185	0.42134	0.130150782498	0.14680	0.343895494938	0.17019	T	0.02659	0.20767	T	-0.42537	0.01582	T	-0.375829	0.36210	T	0.0180318163346801	0.00527	T	0.755524	0.37862	T	0.0651721	0.13902	0.05647457	0.10099	0.0651721	0.13901	0.05647457	0.10098	-3.607	0.17958	T	.	.	0.118	0.28807	B	.;.;.	.;.;.	3.421100	0.47502	22.5	0.99870505638251272	0.94815	0.76413	0.37474	D	AEFBI	0.170758	0.29769	N	0.0978670330124511	0.46363	2.877822	0.0763986621505273	0.43364	2.639726	0.00330133000668038	0.10046	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.26	3.38	0.37806	1.425000	0.34467	0.981000	0.23125	0.589000	0.31548	0.968000	0.34134	0.448000	0.24938	0.640000	0.32422	0.2049:0.795:0.0:0.0	9.779	0.39804	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	0.003525	0.030303	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	874.83	33	chr3	58653691	.	C	T	874.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.548;DP=272;ExcessHet=0;FS=6.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-0.412;SOR=0.49	GT:AD:DP:GQ:PL	0/1:62,38:100:99:885,0,1630	5	0	1	0
chr3	63615389	63615389	A	C	exonic	SYNPR	.	nonsynonymous SNV	SYNPR:NM_144642:exon5:c.A706C:p.S236R,SYNPR:NM_001130003:exon6:c.A766C:p.S256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00544587618591	0.0011	0.00359425	0.0006	0.0050	0.0007	0.0007	0	0.0001	0	0	0.0005951	92	154602	rs192674665	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0026	0.0024	0.0031	0.0006	0	0.0001	0	0.0023	8.005e-05	0.0005	4.638e-05	0.0013	0.0013	0.0013	0.0013	0.0039	0.0012	0.0011	0.0034	0.0032	0.0039	0	0.0012	0	0.0014	0	0.0034	7.349e-05	0.0028	0	0.004	0.65419	D	0.178	0.33780	T	0.0	0.02946	B	0.0	0.01387	B	0.447551	0.12549	N	0.743599	1	0.19853	N	1.1	0.28011	L	1.96	0.25182	T	-0.89	0.26843	N	0.176	0.33796	-1.0308	0.20195	T	0.028	0.12190	T	10	0.0057116747	0.00127	T	0.005446	0.13984	T	0.026	0.05648	0.286	0.24440	0.0138822411134	0.00435	0.4848810429123887	0.48408	0.0804840077464	0.09054	0.329084694386	0.14796	T	0.01676	0.13794	T	-0.598662	0.00149	T	-0.634503	0.10075	T	0.00551157059314954	0.00060	T	0.585741	0.25361	T	0.14457941	0.33180	0.075580426	0.16652	0.14457941	0.33180	0.075580426	0.16652	-7.954	0.61919	D	.	.	0.351	0.58791	A	.;.;.;.	.;.;.;.	0.197866	0.05832	2.272	0.94881531838009625	0.25713	0.07504	0.13519	N	AEFI	0.116678	0.22890	N	-1.43101856652254	0.02370	0.1045868	-1.40548869088869	0.03196	0.1486219	9.47277188669118E-4	0.08042	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.23	-1.5	0.08233	0.171000	0.16497	0.479000	0.18787	-1.759000	0.00679	0.143000	0.23551	0.014000	0.20376	0.271000	0.23793	0.3782:0.1086:0.5132:0.0	7.376	0.26002	866	0.32446	.;.;.;Marvel domain|Marvel 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	0.007049	0.000000	0.012228	0.005848	0.000000	0.017241	0.003049	0.000000	0.08333	1074.83	39	chr3	63615389	.	A	C	1074.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.899;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.117;SOR=0.683	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1085,0,1498	5	0	1	0
chr3	64641911	64641911	C	A	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon11:c.G1709T:p.G570V,ADAMTS9:NM_182920:exon12:c.G1793T:p.G598V	.	.	.	.	.	.	.	.	.	.	.	709018	not_provided|ADAMTS9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.480	.	0.0078	0.00758786	0.0020	0.0223	0.0012	0	0	0	0	6.056e-05	0.0019922	308	154602	rs33998556	0.0006	0.0006	0.0007	0.0005	0.0217	0.0006	0.0006	0.0203	0.0198	0.0217	0.0014	0	0	0	0.0010	1.079e-05	0.0015	5.797e-05	0.0065	0.0065	0.0064	0.0066	0.0225	0.0061	0.0060	0.0213	0.0208	0.0225	0	0.0029	0	0	0	0	4.412e-05	0.0019	0	0.007	0.59928	D	0.007	0.69154	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.805	0.95442	H	0.59	0.53943	T	-4.61	0.79060	D	0.985	0.99410	-0.1928	0.77857	T	0.195	0.54956	T	10	0.011531085	0.00252	T	.	.	.	0.480	0.77077	.	.	0.85166627056	0.85023	0.8731418089074521	0.87280	0.854189277885	0.68684	0.576986968517	0.49661	T	0.460584	0.79771	T	-0.316683	0.07173	T	-0.210084	0.53687	T	0.101965008596986	0.12572	T	0.971203	0.89738	D	0.7754277	0.82375	0.6145247	0.77564	0.7754277	0.82376	0.6145247	0.77565	-11.314	0.81352	D	.	.	0.264	0.56403	B	.;.	.;.	4.871540	0.79818	27.2	0.99790308888585089	0.87572	0.99085	0.91004	D	AEFDBI	0.911167	0.87008	D	0.862151340091257	0.89789	10.11814	0.753717251282869	0.86434	8.888145	0.999999997826297	0.74766	0.566229	0.32551	0	0.573888	0.26702	0	0.618467	0.43123	0	0.674467	0.66132	0	.	.	5.53	5.53	0.82530	7.568000	0.81546	5.924000	0.51211	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.459	0.94902	855	0.34697	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1466.83	34	chr3	64641911	.	C	A	1466.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.506;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.966;SOR=0.646	GT:AD:DP:GQ:PL	0/1:53,64:117:99:1477,0,1236	5	0	1	0
chr3	69004435	69004435	T	A	exonic	EOGT	.	nonsynonymous SNV	EOGT:NM_001278689:exon8:c.A563T:p.K188I,EOGT:NM_173654:exon8:c.A563T:p.K188I	Adams-Oliver syndrome 4, Autosomal recessive	434	1087	1	0	0	1	0.00045977	.	.	.	438567	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0076	0.00758786	0.0027	0.0271	0.0011	0	0	0.0001	0.0022	0.0016	0.0024773	383	154602	rs116138787	0.0010	0.0010	0.0010	0.0009	0.0299	0.0009	0.0009	0.0283	0.0277	0.0299	0.0019	0	0	0	0.0019	0.0001	0.0015	0.0016	0.0084	0.0084	0.0085	0.0082	0.0284	0.0080	0.0078	0.0271	0.0265	0.0284	0	0.0035	0	0	0	0	0.0002	0.0057	0.0027	0.057	0.37966	T	0.139	0.33666	T	0.001	0.07471	B	0.001	0.04355	B	0.386420	0.13317	N	0.761271	0.935531	0.37124	D	1.31	0.32734	L	3.15	0.07820	T	-4.18	0.75537	D	0.412	0.49237	-0.9582	0.39516	T	0.006	0.02018	T	10	0.00980404	0.00220	T	.	.	.	0.080	0.23350	.	.	0.18995819373	0.18626	0.63479757804961	0.63413	0.255832150863	0.28167	0.274141788483	0.06688	T	0.111299	0.42668	T	-0.66788	0.00056	T	-0.709827	0.05304	T	0.0461939643441336	0.04819	T	0.69643	0.30590	T	0.07517179	0.16919	0.121571235	0.29333	0.085789636	0.19914	0.11011875	0.26546	-9.856	0.75241	D	0.2231909666230309	0.30123	0.11	0.32128	B	.;.;.;.	.;.;.;.	2.343523	0.30033	18.31	0.87610706069792199	0.17352	0.78920	0.39013	D	AEFBI	0.116087	0.22798	N	-0.985511775275987	0.08913	0.4197374	-0.901074477567556	0.12069	0.6186706	0.999715807775188	0.42101	0.706548	0.73137	0	0.708844	0.79440	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.61	-1.83	0.07410	1.129000	0.30994	0.709000	0.20918	-0.779000	0.03363	1.000000	0.71638	0.000000	0.08366	0.712000	0.34516	0.2027:0.1222:0.3135:0.3616	1.532	0.02385	589	0.68969	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	2022.83	37	chr3	69004435	.	T	A	2022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.376;DP=278;ExcessHet=0;FS=1.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=1.43;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,52:99:99:0|1:69004435_T_A:2033,0,1806:69004435	5	0	1	0
chr3	69004436	69004436	T	A	exonic	EOGT	.	stopgain	EOGT:NM_001278689:exon8:c.A562T:p.K188X,EOGT:NM_173654:exon8:c.A562T:p.K188X	Adams-Oliver syndrome 4, Autosomal recessive	435	1086	1	0	0	1	0.000460193	.	.	.	438613	Adams-Oliver_syndrome_4|not_provided	MONDO:MONDO:0014124,MedGen:C3809092,OMIM:615297,Orphanet:974|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0078	0.00758786	0.0027	0.0271	0.0011	0	0	0.0001	0.0022	0.0016	0.0024773	383	154602	rs116711473	0.0010	0.0010	0.0010	0.0009	0.0299	0.0009	0.0009	0.0284	0.0278	0.0299	0.0019	0	0	0	0.0019	0.0001	0.0015	0.0016	0.0084	0.0084	0.0085	0.0082	0.0284	0.0080	0.0078	0.0271	0.0265	0.0284	0	0.0035	0	0	0	0	0.0002	0.0057	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.386420	0.13317	N	0.761271	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.452	0.48963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0978111	0.36788	T	0.109037	0.77509	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	6.331190	0.95028	34	0.89829806158255876	0.19139	0.85775	0.44945	D	AEFBI	0.166487	0.29307	N	-0.393130220026878	0.25713	1.397882	-0.615464800025668	0.19096	1.023046	0.999615589386697	0.40981	0.706548	0.73137	0	0.708844	0.79440	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.61	-0.9	0.10008	0.862000	0.27553	-0.138000	0.11547	-0.732000	0.03721	1.000000	0.71638	0.000000	0.08366	0.726000	0.34967	0.0:0.2991:0.1023:0.5986	8.125	0.30153	589	0.68969	.;.;.;.	.	.	.	.	.	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	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	2022.83	37	chr3	69004436	.	T	A	2022.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.706;DP=278;ExcessHet=0;FS=1.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.43;ReadPosRankSum=1.73;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,52:99:99:0|1:69004435_T_A:2033,0,1806:69004435	5	0	1	0
chr3	71772782	71772782	G	T	exonic	PROK2	.	nonsynonymous SNV	PROK2:NM_021935:exon3:c.C269A:p.P90Q,PROK2:NM_001126128:exon4:c.C332A:p.P111Q	Hypogonadotropic hypogonadism 4 with or without anosmia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	683598	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.524	.	0.0066	0.00658946	0.0017	0.0189	0.0006	0	0	1.502e-05	0.0033	6.064e-05	0.0016041	248	154602	rs60239864	0.0005	0.0005	0.0005	0.0005	0.0185	0.0005	0.0005	0.0173	0.0168	0.0185	0.0007	0	0	0	0.0005	6.295e-06	0.0012	2.319e-05	0.0052	0.0052	0.0055	0.0050	0.0185	0.0049	0.0048	0.0174	0.0169	0.0185	0	0.0013	0	0	0	0	5.88e-05	0.0024	0	0.072	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.225	0.63025	M	-0.68	0.72568	T	-4.95	0.82141	D	0.608	0.62526	-0.2527	0.76287	T	0.341	0.70680	T	10	0.009821266	0.00220	T	.	.	.	0.524	0.79825	.	.	0.969817169299	0.96949	0.6497419184202265	0.64910	0.48230503497	0.47191	0.51849603653	0.41415	T	0.855206	0.96739	D	-0.291915	0.09445	T	-0.175172	0.56970	T	0.0275107508848221	0.01618	T	0.90351	0.66162	D	0.6593394	0.75864	0.70208967	0.82444	0.69660324	0.77873	0.74342906	0.84835	-8.746	0.74181	D	.	.	0.259	0.55889	B	.;.	.;.	4.802784	0.78054	26.8	0.99337694526635989	0.60051	0.98788	0.86862	D	AEFBI	0.921758	0.89573	D	0.838242827473289	0.88427	9.574902	0.846813682841278	0.92827	11.65663	0.999999994602333	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.85	5.85	0.93663	8.649000	0.90826	9.917000	0.82473	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.929	0.92531	874	0.30607	.;Prokineticin domain|Prokineticin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.000000	0.08333	538.83	34	chr3	71772782	.	G	T	538.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.333;SOR=0.976	GT:AD:DP:GQ:PL	0/1:14,20:34:99:549,0,373	5	0	1	0
chr3	72841130	72841130	C	T	exonic	SHQ1	.	nonsynonymous SNV	SHQ1:NM_018130:exon4:c.G401A:p.C134Y	.	.	.	.	.	.	.	.	.	.	.	709034	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0103	0.0107827	0.0030	0.0330	0.0010	0	0	7.498e-05	0	0	0.0028266	437	154602	rs61734040	0.0008	0.0008	0.0009	0.0007	0.0304	0.0008	0.0008	0.0288	0.0282	0.0304	0.0015	0	0	0	0.0010	1.889e-05	0.0017	5.799e-05	0.0086	0.0086	0.0088	0.0084	0.0301	0.0082	0.0081	0.0287	0.0282	0.0301	0	0.0025	0	0	0	0.0034	7.351e-05	0.0066	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	N	0.060767	0.999969	0.18878	N	-2.535	0.00052	N	1.02	0.40749	T	3.65	0.00076	N	0.211	0.25006	-0.9934	0.31722	T	0.005	0.01615	T	10	0.0016440749	0.00020	T	.	.	.	0.142	0.37995	.	.	0.139678290688	0.13603	0.43138000941002325	0.43055	0.0942578566062	0.10642	0.459768891335	0.33279	T	7.2E-4	0.00333	T	-0.536186	0.00353	T	-0.518596	0.20436	T	0.00723395835180019	0.00083	T	0.248275	0.03682	T	0.041491468	0.06119	0.08808477	0.20516	0.041491468	0.06119	0.08808477	0.20515	-2.856	0.10854	T	.	.	0.048	0.00133	B	.;.;.	.;.;.	1.483167	0.19090	14.08	0.30353132855254666	0.01656	0.11251	0.16509	N	AEFBI	0.023542	0.01327	N	-0.967274413132661	0.09309	0.4400346	-0.643726169456251	0.18375	0.9813277	0.932879535060799	0.27106	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	2.227000	0.42615	3.400000	0.38123	-0.162000	0.11565	0.992000	0.37556	1.000000	0.68203	0.530000	0.29707	0.1447:0.0795:0.0:0.7758	5.984	0.18657	771	0.49057	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2006.83	33	chr3	72841130	.	C	T	2006.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.368;DP=343;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-2.009;SOR=0.69	GT:AD:DP:GQ:PL	0/1:73,91:164:99:2017,0,1619	5	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	13019.5	77	chr3	75730451	.	T	G	13019.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.837;DP=693;ExcessHet=11.5949;FS=10.929;MLEAC=6;MLEAF=0.5;MQ=54.36;MQRankSum=-6.149;QD=19.06;ReadPosRankSum=0.458;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,64:123:99:0|1:75730450_C_T:2475,0,2255:75730450	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4036.48	106	chr3	75736884	.	G	GA	4036.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.401;DP=744;ExcessHet=6.1542;FS=0.598;MLEAC=5;MLEAF=0.417;MQ=56.86;MQRankSum=-7.488;QD=6.61;ReadPosRankSum=0.624;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,31:114:99:.:.:547,0,3093:.	1	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8233.55	110	chr3	75736891	.	G	A	8233.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.281;DP=746;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.82;MQRankSum=-7.424;QD=11.17;ReadPosRankSum=0.579;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,51:114:99:.:.:1866,0,2365:.	0	0	6	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	.	.	.	.	.	.	.	.	0.5	8377.55	114	chr3	75736920	.	C	A	8377.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.446;DP=776;ExcessHet=11.5949;FS=1.202;MLEAC=6;MLEAF=0.5;MQ=55.33;MQRankSum=-6.069;QD=10.84;ReadPosRankSum=0.12;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,44:118:99:0|1:75736920_C_A:1625,0,2975:75736920	0	0	6	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	.	.	.	.	.	.	.	.	0.5	8051.55	115	chr3	75736928	.	C	T	8051.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.94;DP=759;ExcessHet=11.5949;FS=1.205;MLEAC=6;MLEAF=0.5;MQ=54.84;MQRankSum=-7.061;QD=10.61;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,42:115:99:0|1:75736920_C_A:1536,0,2939:75736920	0	0	6	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	.	.	.	.	.	.	.	.	0.4	4768.39	116	chr3	75736981	.	T	C	4768.39	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.623;DP=764;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.4;MQ=51.73;MQRankSum=-7.808;QD=9.28;ReadPosRankSum=-0.63;SOR=0.71	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1148,0,2260	1	0	4	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	.	.	.	.	.	.	.	.	0.4167	7373.61	117	chr3	75737012	.	C	T	7373.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.452;DP=824;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.1;MQRankSum=-5.8;QD=10.84;ReadPosRankSum=-0.019;SOR=0.712	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1784,0,1650	1	0	5	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10091.9	126	chr3	75737060	.	A	G	10091.9	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.234;DP=933;ExcessHet=6.1542;FS=1.729;MLEAC=5;MLEAF=0.5;MQ=53.3;MQRankSum=-6.147;QD=12.74;ReadPosRankSum=0.642;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,92:160:99:.:.:2138,0,1629:.	0	0	5	1
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	14603.5	144	chr3	75737092	.	C	T	14603.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.748;DP=978;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.3;MQRankSum=-7.283;QD=15.1;ReadPosRankSum=1.16;SOR=0.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,88:159:99:0|1:75737092_C_T:3473,0,2693:75737092	0	0	6	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	14688.5	146	chr3	75737094	.	T	A	14688.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.276;DP=982;ExcessHet=11.5949;FS=4.135;MLEAC=6;MLEAF=0.5;MQ=55.38;MQRankSum=-7.608;QD=15.03;ReadPosRankSum=0.959;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,88:161:99:0|1:75737092_C_T:3467,0,2777:75737092	0	0	6	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	14221.5	141	chr3	75737105	.	T	A	14221.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.488;DP=959;ExcessHet=11.5949;FS=6.075;MLEAC=6;MLEAF=0.5;MQ=55.85;MQRankSum=-8.077;QD=14.91;ReadPosRankSum=0.522;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,86:158:99:0|1:75737092_C_T:3394,0,2764:75737092	0	0	6	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	12533.5	142	chr3	75737127	.	A	C	12533.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.717;DP=908;ExcessHet=11.5949;FS=9.645;MLEAC=6;MLEAF=0.5;MQ=56.36;MQRankSum=-9.402;QD=13.9;ReadPosRankSum=0.942;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,77:147:99:0|1:75737092_C_T:3023,0,2708:75737092	0	0	6	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	6966.51	126	chr3	75737163	.	CCTACATTCT	C	6966.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.84;DP=751;ExcessHet=11.5949;FS=19.854;MLEAC=6;MLEAF=0.5;MQ=56.8;MQRankSum=-9.984;QD=9.4;ReadPosRankSum=0.438;SOR=1.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,48:120:99:0|1:75737092_C_T:1692,0,2872:75737092	0	0	6	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	.	.	.	.	.	.	.	.	0.25	585.32	92	chr3	75737228	.	T	C	585.32	.	AC=3;AF=0.25;AN=12;BaseQRankSum=4.33;DP=570;ExcessHet=1.383;FS=51.057;MLEAC=3;MLEAF=0.25;MQ=57.87;MQRankSum=-8.441;QD=1.98;ReadPosRankSum=-1.548;SOR=5.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,9:79:99:0|1:75737228_T_C:164,0,2872:75737228	3	0	3	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	18140.6	125	chr3	75737519	.	G	A	18140.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.512;DP=968;ExcessHet=11.5949;FS=2.432;MLEAC=6;MLEAF=0.5;MQ=56.18;MQRankSum=-5.291;QD=19.83;ReadPosRankSum=0.906;SOR=0.703	GT:AD:DP:GQ:PL	0/1:52,113:165:99:4454,0,1719	0	0	6	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	18889.6	138	chr3	75737590	.	A	G	18889.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.33;DP=1024;ExcessHet=11.5949;FS=0.518;MLEAC=6;MLEAF=0.5;MQ=53.24;MQRankSum=-9.909;QD=18.83;ReadPosRankSum=0.183;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,123:191:99:0|1:75737590_A_G:4933,0,2480:75737590	0	0	6	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	19771.6	132	chr3	75737608	.	T	C	19771.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=1043;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=52.93;MQRankSum=-11.35;QD=19.03;ReadPosRankSum=-0.024;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,136:204:99:0|1:75737590_A_G:5506,0,2446:75737590	0	0	6	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	20599.6	137	chr3	75737622	.	T	A	20599.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.019;DP=1067;ExcessHet=11.5949;FS=0.521;MLEAC=6;MLEAF=0.5;MQ=53.44;MQRankSum=-10.56;QD=19.38;ReadPosRankSum=-0.787;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,147:217:99:0|1:75737590_A_G:5962,0,2497:75737590	0	0	6	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	20953.6	128	chr3	75737651	.	G	A	20953.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.58;DP=1070;ExcessHet=11.5949;FS=1.1;MLEAC=6;MLEAF=0.5;MQ=54.4;MQRankSum=-9.631;QD=19.67;ReadPosRankSum=-1.06;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,157:230:99:0|1:75737590_A_G:6373,0,2593:75737590	0	0	6	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	20224.6	113	chr3	75737676	.	A	T	20224.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=1046;ExcessHet=11.5949;FS=1.101;MLEAC=6;MLEAF=0.5;MQ=55.24;MQRankSum=-7.284;QD=19.48;ReadPosRankSum=0.094;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,148:213:99:0|1:75737590_A_G:6019,0,2284:75737590	0	0	6	0
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	4782.52	124	chr3	75737881	.	T	C	4782.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.545;DP=905;ExcessHet=6.1542;FS=26.886;MLEAC=5;MLEAF=0.417;MQ=58.38;MQRankSum=-7.065;QD=6.38;ReadPosRankSum=-4.483;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,45:134:99:0|1:75737881_T_C:1407,0,3543:75737881	1	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3573.48	124	chr3	75737891	.	G	GAAAT	3573.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.247;DP=867;ExcessHet=6.1542;FS=28.355;MLEAC=5;MLEAF=0.417;MQ=58.29;MQRankSum=-7.54;QD=4.86;ReadPosRankSum=-3.515;SOR=1.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,31:121:99:0|1:75737881_T_C:981,0,3681:75737881	1	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	3214.48	124	chr3	75737893	.	A	ACTT	3214.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.202;DP=857;ExcessHet=6.1542;FS=30.899;MLEAC=5;MLEAF=0.417;MQ=58.25;MQRankSum=-7.518;QD=4.43;ReadPosRankSum=-2.586;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,28:120:99:0|1:75737881_T_C:886,0,3750:75737881	1	0	5	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	.	.	.	.	.	.	.	.	0.2	2081.77	144	chr3	75738008	.	C	T	2081.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.935;DP=890;ExcessHet=0.4139;FS=14.74;MLEAC=2;MLEAF=0.2;MQ=55.71;MQRankSum=-10.49;QD=5.82;ReadPosRankSum=3.31;SOR=1.338	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,30:165:99:0|1:75737994_T_C:841,0,5426:75737994	3	0	2	1
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1648.77	169	chr3	75738053	.	C	A	1648.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.819;DP=962;ExcessHet=0.4139;FS=3.216;MLEAC=2;MLEAF=0.2;MQ=56.12;MQRankSum=-9.771;QD=4.78;ReadPosRankSum=-1.188;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,24:159:99:0|1:75738051_G_T:601,0,5596:75738051	3	0	2	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	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	.	.	.	.	.	.	.	.	0.2	824.77	172	chr3	75738071	.	A	G	824.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.113;DP=928;ExcessHet=0.4139;FS=9.115;MLEAC=2;MLEAF=0.2;MQ=56.88;MQRankSum=-8.496;QD=2.7;ReadPosRankSum=-1.786;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,15:146:99:0|1:75738051_G_T:236,0,5456:75738051	3	0	2	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	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	.	.	.	.	.	.	.	.	0.2	761.76	169	chr3	75738074	.	G	A	761.76	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.443;DP=917;ExcessHet=0.4139;FS=11.871;MLEAC=2;MLEAF=0.2;MQ=56.91;MQRankSum=-8.196;QD=2.57;ReadPosRankSum=-2.016;SOR=1.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,14:142:99:0|1:75738051_G_T:203,0,5333:75738051	3	0	2	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	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	.	.	.	.	.	.	.	.	0.2	692.77	169	chr3	75738077	.	A	C	692.77	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.044;DP=897;ExcessHet=0.4139;FS=17.077;MLEAC=2;MLEAF=0.2;MQ=57.01;MQRankSum=-8.228;QD=2.4;ReadPosRankSum=-2.38;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,13:138:99:0|1:75738051_G_T:170,0,5210:75738051	3	0	2	1
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	.	.	.	.	.	.	.	.	0.4167	1997.52	70	chr3	75739165	.	C	T	1997.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.495;DP=533;ExcessHet=6.1542;FS=31.345;MLEAC=5;MLEAF=0.417;MQ=54.48;MQRankSum=-8.249;QD=4.42;ReadPosRankSum=-0.837;SOR=1.728	GT:AD:DP:GQ:PL	0/1:62,21:83:99:383,0,1883	1	0	5	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4007.55	43	chr3	75739283	.	G	T	4007.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.04;DP=498;ExcessHet=11.5949;FS=1.149;MLEAC=6;MLEAF=0.5;MQ=52.51;MQRankSum=-4.23;QD=8.47;ReadPosRankSum=1.94;SOR=0.837	GT:AD:DP:GQ:PL	0/1:46,34:80:99:750,0,1353	0	0	6	0
chr3	98817819	98817819	C	T	exonic	DCBLD2	.	nonsynonymous SNV	DCBLD2:NM_080927:exon9:c.G1162A:p.D388N	.	432	1086	4	0	0	4	0.00183824	.	.	.	3213343	DCBLD2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.080029994204	0.0010	0.00159744	0.0015	0.0001	0.0019	0	0.0011	0.0023	0.0011	0	0.0014748	228	154602	rs149988957	0.0013	0.0013	0.0012	0.0013	0.0017	0.0012	0.0012	0.0014	0.0014	0.0002	0.0017	0.0006	0	0.0008	0.0014	0.0015	0.0010	4.638e-05	0.0014	0.0014	0.0015	0.0014	0.0031	0.0013	0.0012	0.0024	0.0022	0.0002	0	0.0031	0.0003	0	0.0012	0	0.0021	0.0019	0.0002	0.498	0.09836	T	0.283	0.21545	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.26	0.31868	L	-5.32	0.98988	D	-1.39	0.35991	N	0.873	0.87049	-0.9362	0.43211	T	0.150	0.47681	T	10	0.058354497	0.06847	T	0.08003	0.73369	D	0.645	0.86536	.	.	0.972282103216	0.97198	0.796986005296395	0.79651	0.222960362883	0.24822	0.46647760272	0.34198	T	0.323633	0.69453	T	-0.171669	0.24982	T	-0.0252251	0.68684	D	0.0389043042269048	0.03493	T	0.868713	0.57175	D	0.2988864	0.52805	0.17662401	0.40209	0.2988864	0.52805	0.17662401	0.40209	-3.849	0.21538	T	.	.	0.079	0.09675	B	.;.	.;.	3.897991	0.56761	23.8	0.99560814760174099	0.71769	0.92252	0.55286	D	ALL	0.829174	0.74813	D	0.389832072917966	0.60871	4.280905	0.518896673247016	0.69263	5.33544	1.0	0.98316	0.743674	0.98306	0	0.688826	0.66785	0	0.630245	0.45026	0	0.723	0.93126	0	.	.	5.72	5.72	0.89380	7.092000	0.76589	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.733	0.88292	808	0.43318	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 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	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	935.83	36	chr3	98817819	.	C	T	935.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.061;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.09;SOR=0.743	GT:AD:DP:GQ:PL	0/1:32,38:70:99:946,0,767	5	0	1	0
chr3	99795985	99795985	G	A	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon4:c.G2084A:p.G695D,COL8A1:NM_001850:exon5:c.G2084A:p.G695D	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.117249802883	0.0004	0.000199681	0.0007	0	0.0003	0	0.0002	0.0010	0.0033	0.0003	0.0006533	101	154602	rs150077356	0.0007	0.0007	0.0007	0.0007	0.0014	0.0007	0.0007	0.0008	0.0008	5.974e-05	0.0005	0.0010	0	5.624e-05	0.0014	0.0009	0.0008	0.0001	0.0006	0.0006	0.0008	0.0005	0.0012	0.0005	0.0005	0.0008	0.0007	7.214e-05	0	0.0012	0.0006	0	0.0002	0.0102	0.0010	0	0	0.005	0.63226	D	0.004	0.74150	D	0.977	0.58535	D	0.695	0.53983	P	0.000000	0.84330	D	0.048785	1	0.81001	D	1.79	0.46772	L	-2.06	0.85875	D	-3.44	0.67477	D	0.616	0.71854	0.411	0.89263	D	0.679	0.88892	D	10	0.2505567	0.42384	T	0.11725	0.79696	D	0.531	0.80247	.	.	0.977438856807	0.97719	0.6098830362696273	0.60920	0.968552079208	0.73281	0.837520897388	0.87715	D	0.684317	0.90762	D	-0.0817388	0.39431	T	0.0692782	0.74862	D	0.11165794954959	0.13594	T	0.933207	0.74971	D	0.63610995	0.74624	0.65923756	0.80038	0.63610995	0.74625	0.65923756	0.80039	-12.113	0.85398	D	.	.	0.344	0.56185	A	.;.	.;.	4.682463	0.74951	26.2	0.99313310487262529	0.59092	0.99194	0.92619	D	AEFDBI	0.905220	0.85647	D	0.861905158258337	0.89774	10.11236	0.891180647311211	0.95177	13.38007	0.999999999999999	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	6.08	6.08	0.98982	10.003000	0.99689	11.837000	0.97708	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.166	0.89659	290	0.88477	C1q domain|C1q domain|C1q domain;C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1127.83	37	chr3	99795985	.	G	A	1127.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.346;DP=280;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=1.99;SOR=0.729	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1138,0,1361	5	0	1	0
chr3	114350914	114350914	G	C	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.C1164G:p.D388E,ZBTB20:NM_001164346:exon5:c.C945G:p.D315E,ZBTB20:NM_001164347:exon5:c.C945G:p.D315E,ZBTB20:NM_001164345:exon6:c.C945G:p.D315E,ZBTB20:NM_001164344:exon7:c.C945G:p.D315E,ZBTB20:NM_001348804:exon9:c.C945G:p.D315E,ZBTB20:NM_015642:exon9:c.C945G:p.D315E,ZBTB20:NM_001348802:exon10:c.C945G:p.D315E,ZBTB20:NM_001348805:exon10:c.C945G:p.D315E,ZBTB20:NM_001164343:exon11:c.C945G:p.D315E,ZBTB20:NM_001348800:exon11:c.C1164G:p.D388E,ZBTB20:NM_001348801:exon11:c.C945G:p.D315E,ZBTB20:NM_001348803:exon13:c.C1164G:p.D388E	Primrose syndrome, Autosomal dominant	428	1086	7	1	0	9	0.00412655	.	.	.	215267	ZBTB20-related_disorder|not_specified|Inborn_genetic_diseases|not_provided|Primrose_syndrome	.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0123231229473	0.0035	0.00239617	0.0030	0.0008	0.0015	0	0.0044	0.0043	0.0011	0.0018	0.0032406	501	154602	rs144663365	0.0054	0.0054	0.0056	0.0053	0.0063	0.0053	0.0053	0.0061	0.0061	0.0008	0.0019	0.0031	2.519e-05	0.0047	0.0033	0.0063	0.0060	0.0018	0.0032	0.0032	0.0034	0.0030	0.0054	0.0030	0.0029	0.0050	0.0048	0.0008	0	0.0020	0.0023	0	0.0030	0.0068	0.0054	0.0028	0.0019	0.0	0.91255	D	0.513	0.12142	T	0.984	0.60733	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999943	0.51968	D	0.975	0.24501	L	3.05	0.09075	T	-0.45	0.15986	N	0.515	0.55886	-1.1409	0.01325	T	0.029	0.12673	T	10	0.008673489	0.00196	T	0.012323	0.30787	T	0.118	0.32913	0.219	0.14078	0.436533834345	0.43271	0.14146928620018684	0.14069	2.22062159339	0.95835	0.727531313896	0.71145	T	0.065255	0.32642	T	-0.453256	0.01080	T	-0.419703	0.31110	T	0.0266752070942473	0.01498	T	0.791221	0.43226	T	0.3345607	0.55842	0.34207883	0.59938	0.38899496	0.59960	0.40406618	0.64845	-2.905	0.09193	T	.	.	0.253	0.57274	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.860838	0.37796	20.6	0.99482647729975815	0.66959	0.93066	0.57241	D	AEFDBI	0.465978	0.51382	N	0.260986653061192	0.54184	3.584715	0.235772074556436	0.51845	3.363527	0.997365449428213	0.35541	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.9	3.1	0.34780	1.460000	0.34855	3.575000	0.39137	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.3252:0.0:0.6748:0.0	7.584	0.27150	844	0.36711	.;.;.;.;.;.;.	.	.	.	.	.	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	0.002016	0.005051	0.001359	0.000000	0.000000	0.000000	0.003067	0.003788	0.08333	1563.83	38	chr3	114350914	.	G	C	1563.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.443;DP=311;ExcessHet=0;FS=2.343;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.78;SOR=0.472	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1574,0,2046	5	0	1	0
chr3	121233639	121233639	G	A	exonic	STXBP5L	.	nonsynonymous SNV	STXBP5L:NM_001308330:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348343:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348344:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348345:exon12:c.G1135A:p.V379M,STXBP5L:NM_014980:exon12:c.G1135A:p.V379M	.	487	1026	7	2	0	11	0.00533204	.	.	.	622325	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.237	0.0206573945077	0.0063	0.00339457	0.0057	0.0015	0.0012	0.0001	0.0017	0.0092	0.0011	0.0022	0.0057438	888	154602	rs61996323	0.0078	0.0079	0.0080	0.0077	0.0093	0.0077	0.0077	0.0092	0.0091	0.0018	0.0021	0.0051	2.529e-05	0.0029	0.0077	0.0093	0.0065	0.0023	0.0054	0.0054	0.0056	0.0053	0.0092	0.0051	0.0050	0.0086	0.0084	0.0017	0	0.0039	0.0049	0	0.0025	0.0136	0.0092	0.0071	0.0017	0.022	0.48642	D	0.012	0.65728	D	0.962	0.59675	D	0.713	0.54860	P	0.000190	0.48115	D	0.138974	0.99901	0.45878	D	2.405	0.69568	M	1.43	0.50192	T	-2.27	0.52289	N	0.646	0.65758	-0.8568	0.51491	T	0.150	0.47699	T	10	0.010139585	0.00227	T	0.020657	0.43298	T	0.237	0.54074	.	.	0.321697908245	0.31786	0.5965482819491511	0.59584	0.618235351031	0.56224	0.521119534969	0.41783	T	0.057566	0.30601	T	-0.346112	0.04975	T	-0.260547	0.48770	T	0.0327383321700659	0.02429	T	0.966703	0.87848	D	0.14155143	0.32612	0.19203654	0.42695	0.14155143	0.32611	0.19203654	0.42694	-9.446	0.70523	D	.	.	0.376	0.61260	A	.;.;.;.;.;.	.;.;.;.;.;.	4.892045	0.80333	27.3	0.99630955753262607	0.76020	0.98847	0.87641	D	AEFI	0.844599	0.76155	D	0.500994704409624	0.67147	5.043283	0.455697244047954	0.65083	4.779137	0.998650680048234	0.37392	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	9.449000	0.96765	9.910000	0.82419	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	17.167	0.86698	292	0.88363	Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.008152	0.014706	0.000000	0.008621	0.009146	0.003788	0.08333	831.83	34	chr3	121233639	.	G	A	831.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.24;DP=233;ExcessHet=0;FS=3.735;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.031;SOR=1.308	GT:AD:DP:GQ:PL	0/1:25,34:59:99:842,0,522	5	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	133.65	65	chr3	121697608	.	C	T	133.65	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-3.9;DP=451;ExcessHet=0;FS=118.262;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.61;SOR=7.476	GT:AD:DP:GQ:PL	0/1:63,37:104:99:138,0,1079	1	0	1	4
chr3	122610693	122610693	C	T	exonic	PARP15	.	nonsynonymous SNV	PARP15:NM_001113523:exon3:c.C506T:p.A169V,PARP15:NM_001308320:exon3:c.C506T:p.A169V	.	.	.	.	.	.	.	.	.	.	.	4043769	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.00234847065773	.	.	6.097e-05	0.0005	0	0	0	0	0	0	1.29e-05	2	154602	rs778219932	3.883e-05	3.694e-05	3.827e-05	3.94e-05	6.385e-05	3.042e-05	2.725e-05	3.49e-05	3.144e-05	6.385e-05	0	0	0	0	0	4.56e-05	5.206e-05	0	2.626e-05	2.625e-05	2.569e-05	2.685e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0.0034	2.94e-05	0	0	0.86	0.24277	T	0.164	0.55759	T	0.945	0.53279	P	0.77	0.56828	P	.	.	.	.	0.999992	0.08975	N	1.765	0.45800	L	1.9	0.23486	T	-1.72	0.42957	N	0.083	0.08646	-0.9890	0.32853	T	0.123	0.42568	T	9	0.07459238	0.11421	T	0.002348	0.04562	T	0.127	0.34888	.	.	0.17258766438	0.16869	0.12046131147675533	0.11973	0.128000787976	0.14431	0.288105845451	0.08646	T	0.002728	0.02125	T	-0.349759	0.04742	T	-0.442621	0.28516	T	0.120605712631022	0.14489	T	0.812119	0.46368	T	0.0760039	0.17162	0.09537028	0.22617	0.0760039	0.17161	0.09537028	0.22616	-2.82	0.08369	T	.	.	0.131	0.31177	B	.;.	.;.	0.414474	0.07854	4.550	0.99883653539762995	0.95892	0.17882	0.20027	N	AEFGBCI	0.094179	0.19046	N	0.0767654333716308	0.45382	2.795561	-0.0717219457422039	0.36563	2.129529	0.999999899568647	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.39	4.39	0.52211	1.172000	0.31517	-0.785000	0.07438	0.596000	0.33519	0.155000	0.23727	0.000000	0.08366	0.024000	0.12247	0.0:1.0:0.0:0.0	15.671	0.77034	485	0.77085	Macro domain|Macro domain|Macro domain;Macro domain|Macro domain|Macro 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	.	.	.	.	.	.	.	.	0.08333	914.83	34	chr3	122610693	.	C	T	914.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.402;DP=238;ExcessHet=0;FS=2.159;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.184;SOR=0.465	GT:AD:DP:GQ:PL	0/1:31,34:65:99:925,0,791	5	0	1	0
chr3	123664192	123664192	C	T	exonic	MYLK	.	nonsynonymous SNV	MYLK:NM_001321309:exon22:c.G3370A:p.A1124T,MYLK:NM_053026:exon22:c.G3691A:p.A1231T,MYLK:NM_053028:exon22:c.G3691A:p.A1231T,MYLK:NM_053025:exon23:c.G3898A:p.A1300T,MYLK:NM_053027:exon23:c.G3898A:p.A1300T	Aortic aneurysm, familial thoracic 7, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	292143	not_provided|MYLK-related_disorder|Connective_tissue_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Aortic_aneurysm,_familial_thoracic_7|not_specified|Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_1	MedGen:C3661900|.|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0013418,MedGen:C3151077,OMIM:613780|MedGen:CN169374|MONDO:MONDO:0100354,MedGen:C5542316,OMIM:249210	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.0155191224276	0.0005	0.00139776	0.0005	0.0012	0.0012	0.0001	0	0.0004	0.0011	0.0001	0.0004269	66	154602	rs149530842	0.0003	0.0003	0.0003	0.0003	0.0024	0.0002	0.0002	0.0015	0.0012	0.0009	0.0015	0.0004	0.0002	0	0.0024	0.0002	0.0004	0.0002	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0004	0.0009	0.0008	0.0011	0	0.0010	0.0006	0	0	0.0034	0.0002	0.0024	0	0.434	0.11015	T	1.0	0.01155	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.999997	0.08975	N	0.385	0.12166	N	-0.5	0.70480	T	-1.01	0.42957	N	0.311	0.35088	-0.9689	0.37427	T	0.186	0.53526	T	9	0.012942165	0.00276	T	0.015519	0.36297	T	0.044	0.11924	.	.	0.686144780852	0.68346	0.2795314669927721	0.27866	0.353807639457	0.37175	0.321122944355	0.13591	T	0.229573	0.69546	T	-0.393942	0.02536	T	-0.357661	0.38323	T	0.0108711017629969	0.00155	T	0.889211	0.62701	D	0.06057271	0.12446	0.07655974	0.16970	0.06057271	0.12445	0.07655974	0.16970	-8.977	0.68013	D	0.07864801712547946	0.03798	0.310	0.53755	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.140922	0.15283	11.73	0.97961082373753172	0.37180	0.06250	0.12240	N	AEFDGBIJ	0.102258	0.20518	N	-0.697785081741722	0.16084	0.8163969	-0.632777627025141	0.18654	0.9974163	0.999996069193786	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.645948	0.59608	0	.	.	4.86	2.68	0.30839	0.916000	0.28273	1.383000	0.26051	0.599000	0.40250	0.364000	0.25875	0.791000	0.26863	0.126000	0.19410	0.0:0.7317:0.0:0.2683	8.985	0.35151	541	0.72942	.;.;.;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	.	.	.	.	.	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	0.000000	0.012228	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	379.83	34	chr3	123664192	.	C	T	379.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.189;DP=209;ExcessHet=0;FS=1.21;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=0.936;SOR=0.914	GT:AD:DP:GQ:PL	0/1:20,18:38:99:390,0,423	5	0	1	0
chr3	127012087	127012087	A	G	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon9:c.A2242G:p.I748V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00615808607693	.	0.000199681	3.322e-05	0	0.0002	0	0	3.031e-05	0	0	3.23e-05	5	154602	rs188507219	2.737e-05	2.736e-05	2.996e-05	2.476e-05	0.0004	2.063e-05	1.817e-05	0.0003	0.0002	0	0.0004	0	0	0	0	1.888e-05	1.656e-05	0	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0014	0.0012	0	0	0.0019	0	0	0	0	4.41e-05	0	0	0.203	0.20154	T	0.229	0.25210	T	0.005	0.12996	B	0.007	0.12992	B	0.000440	0.44522	D	0.094532	0.999415	0.46970	D	2.25	0.63811	M	2.84	0.10674	T	-0.63	0.18459	N	0.299	0.33796	-1.0816	0.07041	T	0.028	0.12190	T	10	0.045954674	0.03728	T	0.006158	0.16141	T	0.044	0.11924	.	.	0.344740032716	0.34089	0.30376797811991946	0.30289	0.375697654196	0.39028	0.543597042561	0.44953	T	0.115337	0.43385	T	-0.392576	0.02589	T	-0.461136	0.26476	T	0.0438537357551289	0.04393	T	0.757524	0.38090	T	0.055636298	0.10840	0.058268316	0.10737	0.055636298	0.10840	0.058268316	0.10737	-5.3	0.39943	T	.	.	0.171	0.37464	B	.	.	1.795033	0.22820	15.77	0.98646141287988387	0.44123	0.80187	0.39892	D	AEFDBCI	0.351930	0.44487	N	-0.279170263596752	0.29954	1.665737	-0.194015215355137	0.31757	1.800152	0.999950513638173	0.48110	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.87	2.67	0.30756	3.821000	0.55401	1.751000	0.28475	0.691000	0.84096	1.000000	0.71638	0.388000	0.24649	0.986000	0.61781	0.832:0.168:0.0:0.0	10.185	0.42167	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	672.83	33	chr3	127012087	.	A	G	672.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.018;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.095;SOR=0.582	GT:AD:DP:GQ:PL	0/1:28,26:54:99:683,0,736	5	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	341.96	59	chr3	128055734	.	T	C	341.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.037;DP=303;ExcessHet=3.1439;FS=106.99;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=0.655;SOR=7.35	GT:AD:DP:GQ:PL	0/1:38,14:52:99:133,0,785	2	0	4	0
chr3	130414129	130414129	C	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon22:c.C4759A:p.Q1587K,COL6A5:NM_153264:exon22:c.C4759A:p.Q1587K	.	426	1092	4	0	0	4	0.00182815	0.8203	0.566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0932164748817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746024647	4.297e-06	4.788e-06	1.414e-06	7.258e-06	0.0002	1.55e-06	1.02e-06	7.4e-07	2.1e-07	0	0	0	0	2.03e-05	0.0002	2.787e-06	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	0.979292	0.25191	N	.	.	.	-3.21	0.93291	D	-1.71	0.40660	N	0.283	0.32037	-0.2668	0.75899	T	0.648	0.87727	D	9	0.47370636	0.60016	T	0.093216	0.76033	D	0.401	0.71479	0.45	0.51121	0.552205712323	0.54877	0.4551588952909204	0.45433	0.201967781584	0.22611	0.371863365173	0.21099	T	0.337672	0.70703	T	0.0919442	0.63408	D	-0.105705	0.62953	T	0.682610094547272	0.39907	D	0.909209	0.67884	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12371	B	.	.	4.464694	0.69523	25.4	0.98484312254113004	0.42014	0.75420	0.36926	D	AEFBI	0.397867	0.47377	N	-0.102216163341842	0.37297	2.167833	0.0113489334197086	0.40240	2.398442	2.80486503935794E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	3.82	0.43153	2.160000	0.41975	4.799000	0.44955	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.837000	0.39485	0.0:0.8014:0.1986:0.0	10.384	0.43312	370	0.84343	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	941.83	33	chr3	130414129	.	C	A	941.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=265;ExcessHet=0;FS=3.132;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.172;SOR=1.186	GT:AD:DP:GQ:PL	0/1:38,38:76:99:952,0,828	5	0	1	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	961.52	32	chr3	130421335	.	G	A	961.52	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.175;DP=236;ExcessHet=1.383;FS=182.965;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=0.188;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,14:46:87:.:.:404,0,932:.	3	0	1	2
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	1026.26	32	chr3	130421337	.	T	C	1026.26	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.712;DP=234;ExcessHet=1.383;FS=182.965;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=0.211;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,20:46:99:0|1:130421337_T_C:460,0,932:130421337	1	0	3	2
chr3	130661886	130661886	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6080A:p.S2027N	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0321920457489	8.3e-05	.	0.0002	0	0.0002	0	0	0.0003	0	0	0.0001617	25	154602	rs199779143	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0012	0.0009	0	0.0002	0.0003	0	0	0.0021	0.0001	0.0002	1.159e-05	0.0001	0.0001	0.0002	6.724e-05	0.0002	7.091e-05	5.747e-05	9.046e-05	7.01e-05	2.413e-05	0	0.0001	0.0009	0	0	0	0.0002	0	0	0.342	0.12632	T	0.335	0.18286	T	0.996	0.68779	D	0.993	0.81110	D	.	.	.	.	0.998509	0.22111	N	1.74	0.45129	L	-2.54	0.89496	D	-0.82	0.22508	N	0.394	0.43514	-0.0589	0.81017	T	0.717	0.90298	D	9	0.15673321	0.29512	T	0.032192	0.54080	D	0.271	0.58633	.	.	0.57371630461	0.57039	0.37236279525889726	0.37150	0.356238940611	0.37372	0.421511918306	0.28045	T	0.046897	0.27563	T	-0.25657	0.13305	T	-0.305998	0.44088	T	0.113791964760386	0.13812	T	0.572743	0.20478	T	0.10073546	0.23789	0.12802047	0.30806	0.10073546	0.23788	0.12802047	0.30805	-7.308	0.56253	T	.	.	0.133	0.28636	B	.	.	3.087749	0.41560	21.4	0.99678270481810405	0.79043	0.17523	0.19874	N	AEFBI	0.082085	0.16616	N	-0.0347226006894586	0.40288	2.389967	-0.000142584150386857	0.39710	2.358661	0.0971644692074117	0.16272	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	5.15	0.70287	0.698000	0.25249	8.591000	0.77687	0.676000	0.76740	0.330000	0.25589	1.000000	0.68203	0.148000	0.20235	0.0:0.254:0.6146:0.1314	11.276	0.48399	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	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.050000	0.000000	0.000000	0.000000	0.08333	1968.83	33	chr3	130661886	.	G	A	1968.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.675;DP=299;ExcessHet=0;FS=1.466;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=-0.331;SOR=0.642	GT:AD:DP:GQ:PL	0/1:49,74:123:99:1979,0,1125	5	0	1	0
chr3	133811157	133811157	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G368C:p.S123T,SRPRB:NM_021203:exon5:c.G368C:p.S123T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.016642363189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	0.054	0.47097	T	0.942	0.52977	P	0.644	0.52249	P	0.000026	0.55875	D	0.155855	1	0.81001	D	2.305	0.65957	M	2.48	0.14657	T	-1.32	0.32991	N	0.492	0.52563	-1.1749	0.00450	T	0.063	0.26279	T	10	0.5695572	0.65242	D	0.016642	0.37992	T	0.158	0.41098	0.531	0.63855	0.700125190599	0.69753	0.5778745801934572	0.57716	0.287765702557	0.31178	0.546562790871	0.45372	T	0.044418	0.26811	T	-0.000832996	0.51538	T	-0.238973	0.50899	T	0.659820669470881	0.38888	D	0.668433	0.27736	T	0.10739064	0.25393	0.16899224	0.38901	0.10739064	0.25393	0.16899224	0.38900	-7.988	0.60989	D	.	.	0.221	0.45161	B	.	.	4.407465	0.68149	25.2	0.98109481766435624	0.38343	0.99441	0.96068	D	AEFBI	0.873379	0.79571	D	0.636013805060949	0.75467	6.31093	0.666844554068866	0.79870	7.174737	0.999999999997681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.265000	0.77842	9.797000	0.81675	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.271	0.93996	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	79.83	33	chr3	133811157	.	G	C	79.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.338;DP=323;ExcessHet=0;FS=122.55;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=1.49;SOR=6.803	GT:AD:DP:GQ:PL	0/1:113,23:142:90:90,0,4243	5	0	1	0
chr3	133811163	133811163	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G374C:p.R125T,SRPRB:NM_021203:exon5:c.G374C:p.R125T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.080248268715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	1	0.81001	D	2.465	0.71551	M	1.64	0.27822	T	-5.99	0.89401	D	0.971	0.98167	-0.6921	0.60810	T	0.217	0.57967	T	10	0.98317224	0.98439	D	0.080248	0.73418	D	0.593	0.83802	0.911	0.98230	0.666577489966	0.66377	0.6595841042932219	0.65895	0.981204246999	0.73746	0.735932707787	0.72374	T	0.302427	0.67483	T	0.274107	0.80805	D	0.155959	0.80558	D	0.9972163438797	0.91033	D	0.931007	0.74365	D	0.7757549	0.82394	0.7889489	0.87580	0.7757549	0.82395	0.7889489	0.87581	-15.17	0.96239	D	.	.	0.996	0.95886	P	.	.	6.145521	0.94664	34	0.986594790397188	0.44303	0.99798	0.99538	D	AEFBI	0.919974	0.89128	D	0.884315895857466	0.90969	10.65269	0.862540314803169	0.93726	12.23806	0.999999999997681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	9.317000	0.95419	11.685000	0.94275	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.271	0.93996	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	61.83	33	chr3	133811163	.	G	C	61.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.867;DP=365;ExcessHet=0;FS=88.058;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.908;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,23:143:72:0|1:133811163_G_C:72,0,4288:133811163	5	0	1	0
chr3	133811164	133811164	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G375C:p.R125S,SRPRB:NM_021203:exon5:c.G375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0395363560954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	4.788e-06	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.059867	0.22291	N	0.419105	0.999998	0.58761	D	2.7	0.79018	M	1.67	0.27331	T	-5.99	0.89401	D	0.975	0.98563	-0.9814	0.34678	T	0.142	0.46386	T	10	0.9769599	0.97506	D	0.039536	0.58866	D	0.365	0.68495	0.885	0.97081	0.513448892127	0.50984	0.6556272041057072	0.65498	0.850424933985	0.68512	0.70716047287	0.68180	T	0.301519	0.67397	T	0.214912	0.75294	D	0.0709292	0.74972	D	0.98602956533432	0.76852	D	0.926607	0.72946	D	0.7467684	0.80681	0.6180993	0.77761	0.7467684	0.80682	0.6180993	0.77762	-14.899	0.95611	D	.	.	0.993	0.94496	P	.	.	4.289479	0.65400	24.8	0.99740139576912379	0.83409	0.92031	0.54792	D	AEFBI	0.540829	0.55723	D	0.357132536362098	0.59118	4.088559	0.289358020393427	0.54918	3.65547	0.877412702490473	0.25545	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	2.24	0.27264	0.441000	0.21325	2.252000	0.31695	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.2987:0.0:0.7013:0.0	7.683	0.27690	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	65.7	33	chr3	133811164	.	G	C	65.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.324;DP=483;ExcessHet=0;FS=87.297;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=0.865;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,23:142:75:0|1:133811163_G_C:75,0,4281:133811163	4	0	1	1
chr3	138946163	138946163	C	T	exonic	FOXL2	.	nonsynonymous SNV	FOXL2:NM_023067:exon1:c.G560A:p.G187D	Blepharophimosis, epicanthus inversus, and ptosis, type 1, Autosomal dominant;Blepharophimosis, epicanthus inversus, and ptosis, type 2, Autosomal dominant;Premature ovarian failure 3	.	.	.	.	.	.	.	.	.	YES	19910	See_cases|not_provided|Blepharophimosis,_ptosis,_and_epicanthus_inversus_syndrome|Premature_ovarian_failure_3	.|MedGen:C3661900|MONDO:MONDO:0007201,MedGen:C0220663,OMIM:110100,Orphanet:126|MONDO:MONDO:0012169,MedGen:C1837008,OMIM:608996	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.692	0.960872989486	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs121908359	3.527e-05	3.831e-05	2.517e-05	4.564e-05	0.0002	2.718e-05	2.435e-05	2.19e-05	1.874e-05	3.734e-05	3.7e-05	4.272e-05	0	0	0.0002	3.027e-05	0.0002	0	1.317e-05	1.313e-05	0	2.695e-05	1.473e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.473e-05	0	0	0.001	0.78490	D	0.025	0.56192	D	1.0	0.90584	D	0.922	0.65739	D	0.033075	0.24945	U	0.435454	1	0.81001	A	1.445	0.36358	L	-3.5	0.94658	D	-0.89	0.24026	N	0.621	0.63628	0.842	0.94924	D	0.843	0.94749	D	9	0.9485167	0.94181	D	0.960873	0.99744	D	0.692	0.88820	0.799	0.91874	0.898211209325	0.89719	0.7236247439379424	0.72306	.	.	0.96209102869	0.99930	D	0.289713	0.66249	T	0.146451	0.68935	D	0.155358	0.80521	D	0.481686443090439	0.31959	T	0.906609	0.67067	D	0.5224177	0.68398	0.57307255	0.75273	0.47156936	0.65387	0.6638628	0.80296	-13.421	0.91023	D	0.19982762936751616	0.26503	0.819	0.78186	P	.;.	.;.	4.652816	0.74191	26.1	0.99828072024013936	0.91026	0.97937	0.78264	D	AEFDBHCI	0.761153	0.69896	D	0.49088755991824	0.66556	4.965503	0.45650116627469	0.65137	4.785726	1.0	0.98316	0.59774	0.34471	0	0.596491	0.49125	0	0.666236	0.60216	0	0.554799	0.18163	0	.	.	3.73	3.73	0.41982	4.897000	0.62918	4.236000	0.42680	0.448000	0.21234	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.858	0.78780	847	0.35998	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002287	0.005882	0.005525	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	381.83	41	chr3	138946163	.	C	T	381.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.454;DP=162;ExcessHet=0;FS=1.643;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=0.323;SOR=1.112	GT:AD:DP:GQ:PL	0/1:8,15:23:99:392,0,182	5	0	1	0
chr3	147396034	147396034	G	C	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001168378:exon3:c.C656G:p.A219G,ZIC4:NM_001168379:exon3:c.C620G:p.A207G,ZIC4:NM_032153:exon3:c.C506G:p.A169G	.	0	1503	17	2	0	21	0.00693756	.	.	.	2091028	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.246	.	0.0058	0.00319489	0.0063	0.0015	0.0017	0	0.0171	0.0086	0.0099	0.0022	0.0059896	926	154602	rs62001026	0.0067	0.0067	0.0068	0.0065	0.0123	0.0066	0.0065	0.0100	0.0092	0.0012	0.0026	0.0003	2.519e-05	0.0145	0.0123	0.0073	0.0060	0.0027	0.0061	0.0061	0.0055	0.0068	0.0072	0.0058	0.0057	0.0066	0.0064	0.0016	0.0592	0.0042	0	0	0.0223	0.0102	0.0072	0.0080	0.0010	0.037	0.78490	D	0.055	0.46862	T	0.382	0.34403	B	0.146	0.33945	B	0.420178	0.12881	N	0.673556	.	.	.	0.325	0.10370	N	-2.83	0.91249	D	-1.42	0.34992	N	0.312	0.35832	-0.1580	0.78720	T	0.486	0.80395	T	10	0.0090051	0.00204	T	.	.	.	0.246	0.55340	.	.	0.81262118663	0.81086	0.3266152122062704	0.32574	0.530816449504	0.50609	0.530859589577	0.43156	T	0.166395	0.51261	T	-0.294136	0.09225	T	-0.190015	0.55588	T	0.0148927318828694	0.00316	T	0.839416	0.51368	T	0.14362493	0.33002	0.19757934	0.43546	0.14362493	0.33001	0.19757934	0.43545	-7.761	0.61234	D	.	.	0.167	0.46733	B	.;.;.;.;.;.	.;.;.;.;.;.	2.681497	0.34985	19.78	0.99533621808530159	0.70025	0.95484	0.64904	D	AEFDBCI	0.760412	0.69844	D	-0.209726301672599	0.32736	1.849439	-0.0889836543389978	0.35844	2.078622	0.999994561557324	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.2	2.15	0.26590	2.516000	0.45181	2.657000	0.33854	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.3905:0.6095:0.0	15.619	0.76542	920	0.19381	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.010101	0.013587	0.017544	0.000000	0.017241	0.012195	0.015152	0.08333	2864.83	39	chr3	147396034	.	G	C	2864.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.853;DP=449;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.419;SOR=0.671	GT:AD:DP:GQ:PL	0/1:108,111:219:99:2875,0,2893	5	0	1	0
chr3	147396395	147396395	C	T	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001168378:exon3:c.G295A:p.E99K,ZIC4:NM_001168379:exon3:c.G259A:p.E87K,ZIC4:NM_032153:exon3:c.G145A:p.E49K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00829610054881	.	.	2.01e-05	0	0	0.0001	0	1.742e-05	0	0	1.29e-05	2	154602	rs757977562	1.454e-06	1.368e-06	0	2.96e-06	9.314e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.314e-07	1.77e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.228	0.28032	T	0.004	0.12183	B	0.008	0.13708	B	0.261720	0.15302	N	0.539313	.	.	.	0.345	0.11182	N	2.93	0.11189	T	-0.75	0.34795	N	0.419	0.45898	-1.0562	0.12724	T	0.024	0.10058	T	10	0.13244128	0.25207	T	0.008296	0.21979	T	0.081	0.23632	0.269	0.21735	0.474248596982	0.47055	0.3962666670485834	0.39541	0.580106300526	0.53867	0.375663220882	0.21640	T	0.097443	0.40027	T	-0.173203	0.24752	T	-0.486571	0.23751	T	0.705437660217285	0.40979	D	0.951205	0.81406	D	0.19052151	0.40640	0.20576131	0.44759	0.19052151	0.40640	0.20576131	0.44758	-4.558	0.31640	T	.	.	0.303	0.53433	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.737652	0.53497	23.4	0.9982591587725127	0.90852	0.95762	0.66046	D	AEFDBCI	0.555940	0.56618	D	-0.25024187244253	0.31094	1.740117	-0.0602914820995086	0.37049	2.16403	0.999999980672365	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.01	4.14	0.47821	7.729000	0.83815	8.195000	0.76797	-0.184000	0.09925	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1483:0.8517:0.0	15.168	0.72528	922	0.19044	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	370.83	39	chr3	147396395	.	C	T	370.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.914;DP=192;ExcessHet=0;FS=3.18;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.51;SOR=0.293	GT:AD:DP:GQ:PL	0/1:17,14:31:99:381,0,502	5	0	1	0
chr3	151328718	151328718	G	T	exonic	P2RY13	.	nonsynonymous SNV	P2RY13:NM_176894:exon2:c.C338A:p.A113D	.	432	1082	6	0	2	8	0.00276498	.	.	.	2825016	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.427	0.0234715852192	0.0045	0.000798722	0.0042	0.0010	0.0022	0	0.0082	0.0062	0.0033	0.0004	0.0041009	634	154602	rs144128158	0.0045	0.0045	0.0046	0.0045	0.0052	0.0044	0.0044	0.0051	0.0051	0.0009	0.0021	0.0021	0	0.0057	0.0042	0.0052	0.0040	0.0005	0.0041	0.0041	0.0041	0.0041	0.0061	0.0038	0.0037	0.0056	0.0054	0.0010	0.0429	0.0027	0.0017	0.0002	0.0062	0.0068	0.0061	0.0038	0.0008	0.101	0.30375	T	0.082	0.41573	T	0.754	0.43358	P	0.781	0.57337	P	0.000296	0.46274	D	0.219430	0.994814	0.42427	D	2.535	0.73915	M	-0.56	0.71187	T	-2.79	0.59059	D	0.636	0.64903	-0.3656	0.73095	T	0.363	0.72384	T	10	0.0137678385	0.00291	T	0.023472	0.46432	T	0.427	0.73445	.	.	0.853523466167	0.85211	0.7102152404423995	0.70963	0.154934877973	0.17502	0.492738097906	0.37818	T	0.378754	0.74165	T	-0.252646	0.13776	T	-0.125297	0.61365	T	0.0865143881402395	0.10798	T	0.762524	0.38803	T	0.43636695	0.63168	0.35455117	0.60998	0.43636695	0.63168	0.35455117	0.60997	-4.595	0.32109	T	.	.	0.508	0.64929	A	.	.	2.547552	0.32967	19.20	0.98821321651468808	0.46786	0.69119	0.34063	D	AEFDGBCIJ	0.402082	0.47631	N	-0.241996136256497	0.31423	1.761883	-0.351923680851002	0.26449	1.461012	0.999999576930139	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	0.473	0.15974	1.312000	0.33179	1.094000	0.24007	-0.132000	0.13132	0.463000	0.26667	0.039000	0.21534	0.242000	0.23054	0.0:0.5657:0.4343:0.0	19.682	0.95963	842	0.36989	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.010101	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	978.83	37	chr3	151328718	.	G	T	978.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.143;DP=286;ExcessHet=0;FS=4.03;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.239;SOR=0.882	GT:AD:DP:GQ:PL	0/1:47,39:86:99:989,0,1245	5	0	1	0
chr3	183427934	183427934	G	A	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon1:c.C44T:p.T15I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00660457467282	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762518014	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	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	0.374	0.21801	T	0.302	0.21343	T	0.164	0.28467	B	0.082	0.29098	B	0.493114	0.12035	N	0.705821	0.999997	0.08975	N	0	0.06538	N	4.6	0.05014	T	-0.73	0.22294	N	0.131	0.36254	-0.8996	0.48034	T	0.009	0.03403	T	10	0.085594	0.14465	T	0.006605	0.17415	T	0.051	0.14325	0.291	0.25241	0.126345400529	0.12197	0.5521432921304901	0.55140	0.246615040871	0.27195	0.57146781683	0.48886	T	0.001833	0.01251	T	-0.273267	0.11395	T	-0.630305	0.10392	T	0.0943536176074672	0.11724	T	0.644736	0.25622	T	0.03542631	0.04169	0.05104339	0.08136	0.03542631	0.04168	0.05104339	0.08135	-3.695	0.19318	T	.	.	0.164	0.39562	B	.;.;.;.	.;.;.;.	1.708643	0.21757	15.34	0.99048282165603896	0.51185	0.45381	0.27526	N	AEFDBCI	0.116843	0.22916	N	-0.766927026339181	0.14178	0.7041588	-0.618369487850296	0.19021	1.018746	0.998480546726633	0.37052	0.65757	0.49021	0	0.491552	0.07993	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	5.31	-0.0823	0.13033	0.772000	0.26309	0.394000	0.17923	-1.782000	0.00650	1.000000	0.71638	0.953000	0.29079	0.496000	0.28927	0.0858:0.6032:0.311:0.0	10.138	0.41891	568	0.70638	CRAL-TRIO lipid 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	.	.	.	.	.	.	.	.	0.08333	962.83	33	chr3	183427934	.	G	A	962.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.17;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.707;SOR=0.61	GT:AD:DP:GQ:PL	0/1:31,40:71:99:973,0,687	5	0	1	0
chr3	184289512	184289512	A	T	exonic	ECE2;EEF1AKMT4-ECE2	.	nonsynonymous SNV	ECE2:NM_001037324:exon11:c.A1363T:p.T455S,ECE2:NM_001100120:exon12:c.A1588T:p.T530S,ECE2:NM_001100121:exon12:c.A1450T:p.T484S,EEF1AKMT4-ECE2:NM_014693:exon12:c.A1804T:p.T602S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772	0.105507280042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.91255	T	0.152	0.65728	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-1.22	0.78752	T	-3.75	0.71157	D	0.862	0.86404	0.178	0.85541	D	0.584	0.85056	D	10	0.8529899	0.84483	D	0.105507	0.78065	D	0.772	0.92336	0.746	0.87738	0.840926168376	0.83940	0.8108984407415724	0.81859	0.716615427626	0.62001	0.57810819149	0.49819	T	0.385845	0.74714	T	0.213414	0.75153	D	0.0687781	0.74828	D	0.996396720409393	0.89257	D	0.793521	0.43953	T	0.30046102	0.83207	0.35574615	0.85733	0.30046102	0.83208	0.35574615	0.85734	-7.6	0.63405	D	.	.	0.730	0.77325	P	.;.;.;.;.	.;.;.;.;.	4.677846	0.74826	26.2	0.99581655965841576	0.73040	0.99162	0.92143	D	ALL	0.956275	0.97471	D	0.771765381707648	0.84311	8.25305	0.74010803744311	0.85417	8.57407	0.999999999999751	0.74766	0.520426	0.21595	0	0.596394	0.48810	0	0.440839	0.06518	1	0.825845	0.99933	0	.	.	5.03	5.03	0.67015	8.962000	0.92962	11.183000	0.88385	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.252	0.53917	743	0.52768	Peptidase M13, N-terminal domain;.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal 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	.	.	.	.	.	.	.	.	0.08333	969.83	33	chr3	184289512	.	A	T	969.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.021;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.125;SOR=0.793	GT:AD:DP:GQ:PL	0/1:41,41:82:99:980,0,997	5	0	1	0
chr3	188609657	188609657	G	A	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001375465:exon5:c.G926A:p.G309D,LPP:NM_001375455:exon6:c.G926A:p.G309D,LPP:NM_001375456:exon6:c.G926A:p.G309D,LPP:NM_001375458:exon6:c.G926A:p.G309D,LPP:NM_001375459:exon6:c.G926A:p.G309D,LPP:NM_001375461:exon6:c.G926A:p.G309D,LPP:NM_001375463:exon6:c.G926A:p.G309D,LPP:NM_005578:exon6:c.G926A:p.G309D,LPP:NM_001167671:exon7:c.G926A:p.G309D,LPP:NM_001375457:exon7:c.G926A:p.G309D,LPP:NM_001375460:exon7:c.G926A:p.G309D,LPP:NM_001375462:exon7:c.G926A:p.G309D,LPP:NM_001375464:exon7:c.G926A:p.G309D	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	2	1501	18	1	0	20	0.00661813	.	.	.	4013934	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.199	0.0367342503907	0.0015	0.00359425	0.0016	0.0002	0.0013	0	0.0011	0.0021	0.0011	0.0019	0.00174	269	154602	rs146859876	0.0017	0.0017	0.0016	0.0018	0.0128	0.0017	0.0016	0.0105	0.0096	0.0004	0.0013	7.652e-05	5.038e-05	0.0012	0.0128	0.0017	0.0017	0.0030	0.0017	0.0017	0.0018	0.0016	0.0056	0.0015	0.0014	0.0040	0.0034	0.0002	0	0.0029	0	0	0.0007	0.0136	0.0023	0.0028	0.0056	0.0	0.91255	D	0.235	0.59159	T	1.0	0.90584	D	1.0	0.97372	D	0.005648	0.32621	N	0.343130	0.999961	0.54805	D	2.125	0.59049	M	1.34	0.44461	T	-3.73	0.70920	D	0.654	0.66443	-0.5845	0.65439	T	0.267	0.63823	T	10	0.0089096725	0.00202	T	0.036734	0.57180	D	0.199	0.48268	.	.	0.336933722576	0.33308	0.5263558457889815	0.52559	.	.	0.482655346394	0.36423	T	0.123994	0.46496	T	-0.277763	0.10906	T	-0.176379	0.56858	T	0.0506788122094624	0.05619	T	0.813919	0.46746	T	0.12770984	0.29877	0.22660209	0.47643	0.16229701	0.36296	0.25691986	0.51399	-5.619	0.42965	T	.	.	0.412	0.60259	A	.;.;.;.;.	.;.;.;.;.	3.625113	0.51325	23.1	0.99848330620631875	0.92750	0.99145	0.91890	D	AEFBI	0.705509	0.66087	D	0.537573026915671	0.69327	5.341443	0.527227981335329	0.69829	5.416461	0.999999998551546	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.71	4.83	0.61880	5.905000	0.69631	3.773000	0.39761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.8481:0.1519	14.917	0.70452	798	0.45050	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.010101	0.009511	0.020468	0.000000	0.000000	0.003049	0.011364	0.08333	2088.83	34	chr3	188609657	.	G	A	2088.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.505;DP=387;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.727;SOR=0.721	GT:AD:DP:GQ:PL	0/1:84,83:167:99:2099,0,2329	5	0	1	0
chr3	195725046	195725046	G	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.G443T:p.S148I,MUC20:NM_001291833:exon2:c.G443T:p.S148I,MUC20:NM_020790:exon2:c.G443T:p.S148I,MUC20:NM_152673:exon2:c.G443T:p.S148I	.	437	1047	37	1	0	39	0.0182841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0218980790304	.	.	8.293e-06	0.0001	0	0	0	0	0	0	0.0026894	70	26028	rs369019587	0.0003	0.0024	0.0003	0.0003	0.0063	0.0003	0.0003	0.0056	0.0053	0.0063	0.0005	0.0002	0.0004	0.0002	0.0016	6.594e-05	0.0003	0.0010	0.0010	0.0073	0.0009	0.0012	0.0016	0.0009	0.0008	0.0009	0.0008	0.0008	0.0012	0.0011	0.0006	0.0011	0.0015	0	0.0011	0	0.0016	0.021	0.50132	D	0.015	0.61642	D	1.0	0.90584	D	0.992	0.80445	D	0.000069	0.52346	D	0.000000	1	0.81001	D	1.895	0.50365	L	2.11	0.27486	T	-2.07	0.78046	N	0.511	0.60241	-0.8738	0.50241	T	0.115	0.40740	T	10	0.009695768	0.00218	T	0.021898	0.44729	T	0.161	0.41658	0.375	0.38830	0.0401082797425	0.02173	0.38443668743494736	0.38358	.	.	0.296985238791	0.09953	T	0.051845	0.48691	T	-0.0104339	0.50204	T	-0.252764	0.49543	T	0.0180324871293138	0.00527	T	0.522848	0.17081	T	0.18034686	0.39151	0.17408364	0.39779	0.18034686	0.39151	0.17408364	0.39778	-3.878	0.21973	T	.	.	0.198	0.45593	B	.;.;.;.	.;.;.;.	3.182996	0.43212	21.7	0.99587376711661724	0.73395	0.85805	0.44979	D	AEFDI	0.070631	0.14029	N	0.31139379516342	0.56734	3.838514	0.253520388367582	0.52850	3.457138	0.00138654049803063	0.08495	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.52	3.63	0.40741	1.468000	0.34941	5.911000	0.51023	0.670000	0.69193	0.999000	0.42656	1.000000	0.68203	0.848000	0.40082	0.1045:0.0:0.8955:0.0	8.898	0.34636	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	155.83	138	chr3	195725046	.	G	T	155.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.52;DP=705;ExcessHet=0;FS=75.71;MLEAC=1;MLEAF=0.083;MQ=35.3;MQRankSum=-3.375;QD=1;ReadPosRankSum=-3.895;SOR=6.09	GT:AD:DP:GQ:PL	0/1:136,20:156:99:166,0,3035	5	0	1	0
chr3	195725634	195725635	CC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1031_1032del:p.A344Vfs*61	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203696921	0.0308	0.0076	0.0327	0.0293	0.1476	0.0300	0.0297	0.1285	0.1212	0.1476	0.0214	0.0717	0.0385	0.0200	0.0412	0.0309	0.0378	0.0218	0.0147	0.0018	0.0312	0	0.0455	0.0040	0.0021	0.0044	0.0019	0.0455	0	0	0	0	0	0	0.0250	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2899.71	.	chr3	195725633	.	GCC	G	2899.71	.	AC=2;AF=0.25;AN=8;DP=111;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=33.76;QD=35.71;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,78:78:99:1|1:195725633_GCC_G:2915,234,0:195725633	3	1	0	2
chr3	195725637	195725748	CAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1034_1145del:p.E346Qfs*32,MUC20:NM_001291833:exon4:c.556_632del:p.V186Lfs*23,MUC20:NM_020790:exon4:c.613_689del:p.P205Gfs*24	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0202	0.0050	0.0209	0.0196	0.0718	0.0195	0.0193	0.0591	0.0545	0.0718	0.0127	0.0488	0.0280	0.0132	0.0281	0.0199	0.0246	0.0154	0.0430	0.0010	0.0571	0.0309	0.1562	0.0255	0.0202	0.0616	0.0400	0.1562	0	0.0208	0.1667	0	0	0	0.0469	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2911.38	.	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	T	2911.38	.	AC=2;AF=0.25;AN=8;DP=116;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=34.02;MQRankSum=0.548;QD=33.5;SOR=0.425	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,79:80:99:1|1:195725633_GCC_G:2927,207,0:195725633	3	1	0	2
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13344.4	105	chr3	195779882	.	G	*	13344.4	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.59;DP=1398;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=59.1;MQRankSum=-0.328;QD=11.75;ReadPosRankSum=-0.314;SOR=0.69	GT:AD:DP:GQ:PL	1/1:3,213:216:99:9286,593,0	3	3	0	0
chr3	195780254	195780254	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11326T:p.P3776S,MUC4:NM_001322468:exon15:c.C9886T:p.P3296S	.	410	1102	9	0	1	10	0.00406688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00199681	0.0159	0.0120	0.0148	0.0028	0	0.0163	0.008	0.0218	6.47e-05	10	154602	rs578036922	0.0001	0.0015	9.385e-05	0.0001	0.0006	9.611e-05	9.058e-05	0.0004	0.0004	6.533e-05	8.679e-05	8.169e-05	0.0006	0.0002	0.0005	9.101e-05	8.828e-05	9.01e-05	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	9.747e-05	0.0003	0	0.0003	0	0	0.0002	0	0.0002	0.0021	0.0002	0.374	0.11478	T	0.781	0.04316	T	.	.	.	.	.	.	0.682961	0.10243	U	0.517672	1	0.18878	N	.	.	.	1.66	0.31205	T	-0.3	0.14390	N	0.029	0.01658	-1.0257	0.21853	T	0.033	0.14247	T	8	0.004255682	0.00085	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	0.0013621205608347429	0.00126	.	.	0.456905126572	0.32887	T	.	.	.	-0.376206	0.03291	T	-0.778171	0.02509	T	0.00735284016896887	0.00084	T	0.643636	0.25529	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05103	B	.;.	.;.	0.211663	0.05949	2.391	0.94469296694473404	0.24916	0.00891	0.03504	N	AEFBCI	0.063293	0.12223	N	-1.86699940324581	0.00401	0.01724251	-1.97499171260156	0.00346	0.01526553	1.6836304562597E-4	0.05721	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-1.343000	0.02749	-5.503000	0.01695	-1.353000	0.01189	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3343:0.0:0.6657:0.0	4.606	0.11768	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	.	.	.	.	.	.	.	.	0.1667	234.06	492	chr3	195780254	.	G	A	234.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.24;DP=1444;ExcessHet=0.4139;FS=51.531;MLEAC=2;MLEAF=0.167;MQ=56.89;MQRankSum=-4.767;QD=1.23;ReadPosRankSum=-1.876;SOR=5.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,11:104:99:0|1:195780165_C_G:199,0,3217:195780165	4	0	2	0
chr3	195781996	195781996	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9584T:p.T3195I	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000680715796675	.	0.000199681	0.0029	0	0	0	0	0.0003	0	0.0064	1.29e-05	2	154602	rs553359649	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0.0002	0	0	0	0.0015	6.178e-05	0.0002	0.0027	5.911e-05	0.0001	8.658e-05	3.029e-05	0.0002	2.938e-05	2.133e-05	4.1e-05	2.731e-05	2.976e-05	0	0	0	0	0	0	9.485e-05	0	0.0002	0.032	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.16	0.38073	T	-1.42	0.34992	N	0.087	0.06454	-1.0154	0.25207	T	0.044	0.18989	T	8	0.0055933893	0.00124	T	6.81E-4	0.00400	T	0.012	0.01476	.	.	0.0138822411134	0.00435	7.689607933966678E-4	0.00070	.	.	0.521981835365	0.41905	T	.	.	.	-0.307992	0.07926	T	-0.680186	0.06972	T	0.0172104104395593	0.00464	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.62898	A	.;.	.;.	1.295274	0.16964	12.88	0.78818462309405501	0.12466	0.00247	0.01365	N	AEFI	0.047472	0.07999	N	-1.19717036555302	0.05043	0.2289773	-1.28932571266452	0.04573	0.2160548	1.23697505538687E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	0.260000	0.18192	-0.467000	0.09002	-1.176000	0.01393	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.3579:0.0:0.6421:0.0	3.255	0.06425	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	0.001754	0.000000	0.015625	0.008929	0.000000	0.000000	0.000000	0.000000	0.1667	5272.04	162	chr3	195781996	.	G	A	5272.04	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.794;DP=697;ExcessHet=0;FS=23.052;MLEAC=2;MLEAF=0.167;MQ=38.9;MQRankSum=0.93;QD=29.95;ReadPosRankSum=2.1;SOR=2.271	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:6,170:176:99:1|1:195781925_C_G:5292,370,0:195781925	5	1	0	0
chr3	195782948	195782948	-	GTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.8631_8632insCAC:p.H2877_A2878insH,MUC4:NM_001322468:exon8:c.7959_7960insCAC:p.G2654_A4615delinsHGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	558	926	6	1	31	39	0.00430108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0007	0.0006	0.0005	0.0181	0.0005	0.0005	0.0165	0.0158	0.0181	0.0010	0	0.0001	0.0002	0.0018	0.0001	0.0015	0.0011	0.0025	0.0048	0.0028	0.0023	0.0106	0.0023	0.0022	0.0095	0.0091	0.0106	0	0.0009	0	0	0.0001	0	7.252e-05	0.0025	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6003.71	349	chr3	195782948	.	C	CGTG	6003.71	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.746;DP=1985;ExcessHet=0;FS=1.775;MLEAC=2;MLEAF=0.2;MQ=53.59;MQRankSum=8.45;QD=19.18;ReadPosRankSum=2.45;SOR=0.798	GT:AD:DP:GQ:PL	1/1:59,254:313:99:6022,555,0	4	1	0	1
chr3	195782949	195782949	-	CCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.8630_8631insCGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGG:p.T2879_P2880insSLPVTDASSVSTGAT,MUC4:NM_001322468:exon8:c.7958_7959insCGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGG:p.G2654_A4615delinsATSLPVTDASSVSTGGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	868	195	206	239	14	698	0.636872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.346e-05	7.283e-05	3.13e-05	7.675e-05	0.0010	4.226e-05	3.802e-05	0.0007	0.0006	0	0	0	0	0	0.0010	9.924e-06	6.727e-05	0.0009	0	8.224e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	35837.8	300	chr3	195782949	.	A	ACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCG	35837.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.77;DP=2072;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=55.26;MQRankSum=1.67;QD=28.6;ReadPosRankSum=1.98;SOR=0.676	GT:AD:DP:GQ:PL	1/1:2,254:311:99:9491,938,0	4	1	0	1
chr3	195783115	195783115	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8465T:p.A2822V	.	518	942	16	23	23	85	0.0318602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00808758064807	.	.	9.747e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs779130828	0.0006	0.0075	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0001	0.0003	0.0008	0.0014	0.0011	0.0007	0.0006	0.0009	0.0001	0.0005	0.0090	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0009	0.0006	0	0.024	0.47745	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.54	0.30133	T	-0.32	0.12283	N	0.091	0.06990	-1.0429	0.16443	T	0.034	0.14509	T	7	0.057775825	0.06688	T	0.008088	0.21444	T	0.055	0.15663	0.112	0.02175	0.0138822411134	0.00435	4.332367442156766E-5	0.00003	.	.	0.49801659584	0.38551	T	.	.	.	-0.322191	0.06720	T	-0.700582	0.05794	T	0.0232126214171904	0.01049	T	0.561544	0.19673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28550	B	.;.	.;.	1.043626	0.14243	10.82	0.97275147961025843	0.33153	0.04537	0.10171	N	AEFBI	0.111671	0.22101	N	-0.87767777179361	0.11376	0.5485977	-1.04387443529792	0.08835	0.4363716	0.00134275207830979	0.08462	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.054000	0.14087	0.088000	0.14478	0.193000	0.17869	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.001:0.0:0.999:0.0	5.818	0.17765	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	.	.	.	.	.	.	.	.	0.25	1011.08	299	chr3	195783115	.	G	A	1011.08	.	AC=2;AF=0.25;AN=8;DP=1177;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=39.23;QD=28.44;SOR=4.892	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,23:23:69:1|1:195783068_G_T:1027,69,0:195783068	3	1	0	2
chr3	195783119	195783119	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8461A:p.D2821N	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00361977304785	.	.	0.0001	0	0	0	0.0006	0.0002	0	0	2.59e-05	4	154602	rs868560707	0.0003	0.0058	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0.0003	0.0003	0.0006	0.0005	0.0007	0.0002	0.0006	8.471e-05	0.0004	0.0066	0.0005	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0	0.0005	0.0007	0	0.0001	0	0.0005	0.0007	0	0.046	0.40573	D	0.092	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.25888	N	.	.	.	1.63	0.28002	T	-0.65	0.18877	N	0.074	0.04790	-0.9984	0.30367	T	0.034	0.14639	T	7	0.04676366	0.03908	T	0.00362	0.08309	T	0.017	0.02790	0.218	0.13932	0.0138822411134	0.00435	4.811599441479893E-5	0.00003	.	.	0.538040757179	0.44169	T	.	.	.	-0.406046	0.02112	T	-0.821033	0.01432	T	0.0261067225224835	0.01420	T	0.627737	0.24333	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16886	B	.;.	.;.	1.127292	0.15138	11.62	0.96387718866879646	0.29640	0.00081	0.00551	N	AEFBI	0.043696	0.06939	N	-1.31332560996001	0.03522	0.1574579	-1.42243953303557	0.03029	0.1405056	1.19599416723631E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.089000	0.01445	-2.543000	0.03628	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5833:0.4166:0.0	4.544	0.11475	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	0.002044	0.012346	0.000000	0.005051	0.000000	0.000000	0.003759	0.000000	0.25	659.08	299	chr3	195783119	.	C	T	659.08	.	AC=2;AF=0.25;AN=8;DP=1168;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=37.7;QD=28.71;SOR=5.549	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,15:15:45:1|1:195783068_G_T:675,45,0:195783068	3	1	0	2
chr3	195783262	195783262	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8318G:p.N2773S	.	435	1048	24	4	11	43	0.0150376	.	.	.	2825231	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000934584827122	.	.	0.0062	0.0032	0.0036	0	0	0.0079	0.0038	0.0074	0.0003458	9	26028	rs200430309	0.0004	0.0018	0.0004	0.0005	0.0030	0.0004	0.0004	0.0025	0.0022	0.0030	0.0019	0.0005	0.0001	0.0002	0.0011	0.0002	0.0006	0.0020	0.0023	0.0063	0.0020	0.0026	0.0081	0.0020	0.0019	0.0065	0.0061	0.0076	0	0.0025	0	0.0003	0.0007	0.0068	0.0006	0.0008	0.0081	0.026	0.46910	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.32722	T	0.18	0.05310	N	0.02	0.00770	-0.9888	0.32903	T	0.026	0.10954	T	8	0.00425151	0.00085	T	9.35E-4	0.00911	T	0.009	0.00846	.	.	0.0138822411134	0.00435	6.802891024874262E-6	0.00000	.	.	0.536698877811	0.43980	T	.	.	.	-0.429523	0.01492	T	-0.854757	0.00902	T	0.00071340223075822	0.00006	T	0.639136	0.25234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.;.	.;.	-0.268405	0.02760	0.371	0.26748890116254831	0.01296	0.00041	0.00340	N	AEFBI	0.037893	0.05280	N	-1.53609845538159	0.01617	0.07070451	-1.620494646848	0.01535	0.06955711	1.70211933778159E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.52	0.08181	-2.470000	0.01067	-6.862000	0.01287	-2.418000	0.00289	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4779:0.0:0.5221	4.376	0.10704	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	1	0	0.095606	0.152632	0.057377	0.178571	0.111111	0.052083	0.101307	0.056911	0.1	86.22	382	chr3	195783262	.	T	C	86.22	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.524;DP=1258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=32.81;MQRankSum=0.366;QD=14.37;ReadPosRankSum=1.47;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,4:8:86:0|1:195783250_A_*:137,0,86:195783250	4	0	1	1
chr3	195783275	195783275	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8305G:p.L2769V	.	423	1085	10	4	0	18	0.00822669	.	.	.	2825232	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.000887605559782	.	.	0.0033	0.0013	0.0055	0	0	0.0059	0	0.0017	3.84e-05	1	26028	rs199750921	4.798e-05	0.0002	3.643e-05	5.984e-05	0.0002	3.858e-05	3.515e-05	6.546e-05	4.254e-05	0.0002	2.853e-05	4.077e-05	0	0.0001	0	4.217e-05	0.0001	2.565e-05	8.414e-05	0.0004	8.221e-05	8.617e-05	0.0003	4.778e-05	3.734e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.583e-05	0	0	0.489	0.13522	T	0.173	0.30241	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.12	0.38718	T	-0.03	0.07444	N	0.051	0.06322	-1.0314	0.20002	T	0.048	0.20553	T	8	0.005651593	0.00125	T	8.88E-4	0.00822	T	0.004	0.00165	.	.	0.0138822411134	0.00435	3.5804689604601376E-7	0.00000	.	.	0.529638767242	0.42983	T	.	.	.	-0.373846	0.03404	T	-0.774781	0.02614	T	0.00269115063262578	0.00028	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26482	B	.;.	.;.	0.659962	0.10282	7.017	0.67273669227981714	0.08305	0.00125	0.00780	N	AEFBI	0.057650	0.10756	N	-1.29840298865143	0.03696	0.165531	-1.42207790409781	0.03032	0.1406671	1.93335604505655E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.7	0.07721	-3.112000	0.00660	-7.108000	0.01229	0.221000	0.18078	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4545:0.0:0.2536:0.2919	1.664	0.02629	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	1	0	0.041367	0.054348	0.019608	0.095455	0.000000	0.031250	0.042484	0.033613	0.1	99.7	66	chr3	195783275	.	G	C	99.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.046;DP=979;ExcessHet=0;FS=6.264;MLEAC=1;MLEAF=0.1;MQ=34.28;MQRankSum=-0.574;QD=8.31;ReadPosRankSum=0.179;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,4:12:99:0|1:195783250_A_*:109,0,323:195783250	4	0	1	1
chr3	195783356	195783358	TCT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.8222_8224del:p.E2741_T2742delinsA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0001	5.516e-05	0	0	0	0.0002	0.0001	6.573e-05	0	2.546e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	103.65	27	chr3	195783355	.	GTCT	G	103.65	.	AC=2;AF=0.2;AN=10;DP=563;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=32.59;QD=0.77;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:9:1|1:195783346_A_G:120,9,0:195783346	4	1	0	1
chr3	195784460	195784460	A	0	exonic	MUC4	.	.	.	.	1145	92	157	109	19	394	0.670841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	51972.0	904	chr3	195784460	.	A	*	51972.0	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.14;DP=4666;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=57.51;MQRankSum=-0.672;QD=24.69;ReadPosRankSum=0.496;SOR=0.702	GT:AD:DP:GQ:PL	1/0:0,188:1122:99:32842,28418,40292	1	0	2	3
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1203.96	297	chr3	195784575	.	C	*	1203.96	.	AC=3;AF=0.5;AN=6;BaseQRankSum=2.29;DP=2979;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=54.6;MQRankSum=4.3;QD=1.15;ReadPosRankSum=1.87;SOR=0.557	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,500:574:99:.:.:35241,3917,1204:.	1	1	1	3
chr3	195784594	195784594	G	0	exonic	MUC4	.	.	.	.	11	191	8	0	16	24	0.0205128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1290.83	246	chr3	195784594	.	G	*	1290.83	.	AC=3;AF=0.3;AN=10;BaseQRankSum=3.14;DP=2647;ExcessHet=0;FS=3.189;MLEAC=3;MLEAF=0.3;MQ=54.27;MQRankSum=4.3;QD=1.23;ReadPosRankSum=2.66;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:7,498:574:99:0|1:195784594_G_A:25892,3083,1292:195784594	3	1	1	1
chr3	195784627	195784632	GCGTGA	0	exonic	MUC4	.	.	.	.	446	999	5	0	72	77	0.00249626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	594.24	132	chr3	195784627	.	GCGTGA	*	594.24	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.297;DP=2748;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=54.84;MQRankSum=3.08;QD=0.51;ReadPosRankSum=1.41;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:5,635:703:99:0|1:195784594_G_A:35954,3330,596:195784594	4	1	1	0
chr3	195784628	195784632	CGTGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.6948_6952del:p.A2318Pfs*14,MUC4:NM_001322468:exon7:c.6900_6904del:p.T2301Hfs*104	.	446	999	5	0	72	77	0.00249626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.987e-05	0	0	0	0	0.0002	0	0	.	.	.	rs780998555	5.19e-05	0.0004	4.492e-05	5.91e-05	0.0003	4.186e-05	3.818e-05	7.338e-05	4.747e-05	0.0002	0	8.758e-05	3.147e-05	0.0002	0.0003	4.37e-05	9.647e-05	2.706e-05	0.0018	0.0077	0.0018	0.0017	0.0031	0.0016	0.0015	0.0026	0.0024	0.0031	0.0012	0.0013	0.0007	0.0002	0.0016	0	0.0015	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	594.24	132	chr3	195784627	.	GCGTGA	G	594.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.297;DP=2748;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.84;MQRankSum=3.08;QD=0.51;ReadPosRankSum=1.41;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,63:703:99:0|1:195784594_G_A:35954,22897,26012:195784594	5	0	1	0
chr3	195784637	195784680	TGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	180.24	132	chr3	195784637	.	TGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	*	180.24	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.771;DP=3078;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.24;MQRankSum=3.68;QD=0.16;ReadPosRankSum=2.39;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:5,635:689:99:0|1:195784594_G_A:35356,2891,182:195784594	4	1	1	0
chr3	195784638	195784680	GGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.6900_6942del:p.H2301Qfs*689,MUC4:NM_001322468:exon7:c.6852_6894del:p.T2285Lfs*10	.	449	999	63	9	2	83	0.038961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.813e-05	0.0002	1.397e-05	2.241e-05	0.0002	1.207e-05	1.008e-05	7.406e-05	4.792e-05	0.0002	0	8.773e-05	0	0	0	1.324e-05	1.935e-05	2.707e-05	0.0009	0.0054	0.0008	0.0010	0.0024	0.0007	0.0007	0.0019	0.0017	0.0024	0	0.0008	0.0003	0	0.0005	0	0.0004	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	180.24	132	chr3	195784637	.	TGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGA	T	180.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.771;DP=3078;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.24;MQRankSum=3.68;QD=0.16;ReadPosRankSum=2.39;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,49:689:99:0|1:195784594_G_A:35356,22882,26098:195784594	5	0	1	0
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13571.1	172	chr3	195784652	.	C	*	13571.1	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.14;DP=3111;ExcessHet=0.7136;FS=0.688;MLEAC=4;MLEAF=0.333;MQ=54.14;MQRankSum=-7.864;QD=7.75;ReadPosRankSum=0.365;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,635:689:99:1|1:195784594_G_A:35174,2709,0:195784594	4	2	0	0
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13679.1	178	chr3	195784654	.	T	*	13679.1	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.01;DP=3119;ExcessHet=0.7136;FS=0.685;MLEAC=4;MLEAF=0.333;MQ=54.24;MQRankSum=-7.731;QD=7.75;ReadPosRankSum=0.533;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,635:689:99:1|1:195784594_G_A:35174,2709,0:195784594	4	2	0	0
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13674.1	178	chr3	195784655	.	C	*	13674.1	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.27;DP=3122;ExcessHet=0.7136;FS=0.685;MLEAC=4;MLEAF=0.333;MQ=54.24;MQRankSum=-7.66;QD=7.76;ReadPosRankSum=0.557;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:5,635:689:99:1|1:195784594_G_A:35174,2709,0:195784594	4	2	0	0
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22741.6	333	chr3	195784719	.	A	*	22741.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.327;DP=4540;ExcessHet=0.1336;FS=0.804;MLEAC=4;MLEAF=0.333;MQ=57.2;MQRankSum=-4.212;QD=8.93;ReadPosRankSum=-1.853;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,633:651:99:1|1:195784699_GGGC_*:36611,3436,0:195784699	4	2	0	0
chr3	195785084	195785087	TGTC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.6493_6496del:p.D2165Lfs*838,MUC4:NM_001322468:exon6:c.6493_6496del:p.G2165Tfs*143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431679999	3.593e-06	1.437e-05	4.252e-06	2.915e-06	1.282e-05	1.05e-06	7.7e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.721e-06	0	1.282e-05	2.008e-05	3.316e-05	1.308e-05	2.743e-05	2.968e-05	5.34e-06	2.48e-06	4.93e-06	1.84e-06	2.469e-05	0	0	0	0	0	0	2.968e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	298.79	636	chr3	195785083	.	GTGTC	G	298.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.47;DP=3633;ExcessHet=0;FS=14.973;MLEAC=1;MLEAF=0.083;MQ=54.93;MQRankSum=-3.633;QD=0.34;ReadPosRankSum=-5.958;SOR=2.557	GT:AD:DP:GQ:PL	0/1:806,69:876:99:309,0,33244	5	0	1	0
chr4	952434	952522	CCATTGGGGTCGTGCAGGTAGGGGGCCTGGGGGGCCTGCACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATCA	-	exonic	TMEM175	.	frameshift deletion	TMEM175:NM_001297424:exon5:c.200_216del:p.A67Gfs*97,TMEM175:NM_001297425:exon5:c.200_216del:p.A67Gfs*97,TMEM175:NM_001297428:exon5:c.98_114del:p.A33Gfs*97,TMEM175:NM_001297423:exon7:c.200_216del:p.A67Gfs*97,TMEM175:NM_001297427:exon7:c.98_114del:p.A33Gfs*97,TMEM175:NM_032326:exon7:c.446_462del:p.A149Gfs*97,TMEM175:NM_001297426:exon8:c.98_114del:p.A33Gfs*97	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0012	8.754e-05	0	0.0003	0.0002	0	6.103e-05	.	.	.	.	6.538e-05	0.0002	5.616e-05	7.469e-05	0.0008	5.461e-05	5.072e-05	0.0006	0.0005	0.0008	2.25e-05	0	0	1.997e-05	0	2.977e-05	0.0005	2.331e-05	0.0006	0.0017	0.0005	0.0006	0.0015	0.0005	0.0004	0.0012	0.0011	0.0015	0	0.0003	0	0.0004	0.0008	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	78.79	35	chr4	952433	.	GCCATTGGGGTCGTGCAGGTAGGGGGCCTGGGGGGCCTGCACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATCA	G	78.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.041;DP=224;ExcessHet=0;FS=1.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.97;ReadPosRankSum=0.369;SOR=0.808	GT:AD:DP:GQ:PL	0/1:35,5:40:89:89,0,1405	5	0	1	0
chr4	952438	952438	T	0	exonic	TMEM175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5111.15	55	chr4	952438	.	T	*	5111.15	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.666;DP=274;ExcessHet=1.383;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=1.29;SOR=0.72	GT:AD:DP:GQ:PL	0/1:0,5:40:89:1263,920,1405	5	0	1	0
chr4	1744729	1744729	C	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon15:c.C2348A:p.A783D	.	418	1095	9	0	0	9	0.00409277	.	.	.	734520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0002	0.000998403	0.0022	0.0002	0.0008	0	0	0.0008	0.0024	0.0115	0.0017464	270	154602	rs144776052	0.0011	0.0011	0.0008	0.0014	0.0104	0.0011	0.0011	0.0098	0.0096	0	0.0006	0.0049	2.519e-05	3.848e-05	0.0038	0.0004	0.0015	0.0104	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	4.81e-05	0	0.0008	0.0058	0	0	0	0.0004	0.0009	0.0066	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.974	0.73157	D	0.001878	0.37789	N	0.112328	0.999982	0.54805	D	2.735	0.79925	M	0.86	0.46777	T	-5.36	0.84811	D	0.666	0.67477	-0.5229	0.67807	T	0.273	0.64422	T	10	0.01585102	0.00333	T	.	.	.	0.259	0.57090	.	.	0.741605723735	0.73928	0.5972649816667596	0.59657	0.432787875245	0.43447	0.388658106327	0.23480	T	0.392123	0.75187	T	-0.358582	0.04211	T	-0.278459	0.46962	T	0.0750818037569585	0.09347	T	0.972403	0.89999	D	0.89337164	0.90798	0.83867383	0.90751	0.89337164	0.90799	0.83867383	0.90751	-13.411	0.90985	D	.	.	0.630	0.70130	P	.	.	4.028937	0.59562	24.1	0.99730559226398685	0.82761	0.86252	0.45497	D	AEFDBCI	0.349640	0.44336	N	0.464143856387653	0.65011	4.768953	0.36180559971387	0.59221	4.09826	0.999999984640629	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.21	4.35	0.51454	3.741000	0.54810	3.140000	0.36479	-0.190000	0.09434	0.547000	0.27322	0.073000	0.22253	0.096000	0.18090	0.0:0.9246:0.0:0.0754	14.032	0.64144	804	0.43891	Transforming acidic coiled-coil-containing protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003535	0.010101	0.001359	0.005848	0.000000	0.000000	0.003086	0.003817	0.08333	982.83	33	chr4	1744729	.	C	A	982.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.588;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.492;SOR=0.627	GT:AD:DP:GQ:PL	0/1:27,40:67:99:993,0,750	5	0	1	0
chr4	2832353	2832353	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon11:c.C1429T:p.R477W,SH3BP2:NM_001145855:exon11:c.C1513T:p.R505W,SH3BP2:NM_001145856:exon11:c.C1600T:p.R534W,SH3BP2:NM_003023:exon11:c.C1429T:p.R477W	Cherubism, Autosomal dominant	0	1469	50	3	0	56	0.0187041	.	.	.	298197	not_specified|not_provided|Fibrous_dysplasia_of_jaw	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.353	.	0.0032	0.00419329	0.0048	0.0007	0.0014	0.0009	0.0005	0.0044	0.0111	0.0145	0.0046895	725	154602	rs148761331	0.0047	0.0047	0.0043	0.0051	0.0141	0.0046	0.0045	0.0135	0.0132	0.0008	0.0011	0.0028	0.0006	0.0004	0.0097	0.0046	0.0042	0.0141	0.0030	0.0030	0.0034	0.0027	0.0135	0.0028	0.0027	0.0108	0.0099	0.0007	0.0011	0.0010	0.0035	0.0017	0.0003	0	0.0048	0.0024	0.0135	0.005	0.65419	D	0.012	0.79402	D	0.993	0.65571	D	0.719	0.54822	P	0.547009	0.05347	N	1.263160	1	0.08975	N	.	.	.	-1.34	0.80214	T	-2.13	0.50012	N	0.436	0.58287	-0.4768	0.69483	T	0.503	0.81247	D	10	0.009694606	0.00218	T	.	.	.	0.353	0.67418	.	.	0.891418545996	0.89034	.	.	0.496001013045	0.48122	0.261938273907	0.05123	T	0.64222	0.89042	D	-0.285483	0.10094	T	-0.170529	0.57394	T	0.0299888361982015	0.01988	T	0.90391	0.66280	D	0.066479646	0.14309	0.08433826	0.19394	0.076425284	0.17283	0.07091893	0.15126	-7.768	0.60633	D	.	.	0.076	0.05935	B	.;.;.;.;.;.	.;.;.;.;.;.	4.179443	0.62902	24.5	0.99886729642261152	0.96204	0.36689	0.25591	N	AEFDGBCI	0.174426	0.30155	N	0.0692387533215059	0.45032	2.766651	0.0143435380050956	0.40378	2.408904	0.999998199745543	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	4.35	0.51454	0.929000	0.28445	3.811000	0.39910	0.599000	0.40250	0.250000	0.24849	0.173000	0.23359	0.798000	0.37648	0.2103:0.6731:0.1166:0.0	9.358	0.37340	726	0.54788	SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.004076	0.000000	0.000000	0.008621	0.009146	0.026515	0.1667	2077.06	36	chr4	2832353	.	C	T	2077.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.08;DP=328;ExcessHet=0.4139;FS=4.537;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.34;SOR=0.433	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1141,0,1373	4	0	2	0
chr4	3493203	3493203	A	C	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001256896:exon4:c.A287C:p.D96A,DOK7:NM_001363811:exon5:c.A785C:p.D262A,DOK7:NM_001301071:exon7:c.A1217C:p.D406A,DOK7:NM_173660:exon7:c.A1217C:p.D406A	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.660	0.747982537129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.052e-06	2.727e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	2.522e-05	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	0.941	0.52883	P	0.531	0.48577	P	0.000004	0.62929	D	0.059077	0.978192	0.81001	D	2.395	0.69210	M	-1.2	0.78537	T	-5.81	0.88224	D	0.741	0.74098	0.318	0.87843	D	0.614	0.86334	D	10	0.75508904	0.75922	D	0.747983	0.97988	D	0.660	0.87283	0.447	0.50629	0.884373466241	0.88323	0.7056341543468009	0.70505	0.0175363588794	0.01705	0.64201772213	0.58851	T	0.601065	0.87215	D	-0.0108172	0.50152	T	-0.0808569	0.64841	T	0.980637192726135	0.73466	D	0.876912	0.59601	D	0.5881932	0.72053	0.4346186	0.66975	0.5881932	0.72054	0.4346186	0.66975	-7.767	0.59471	D	0.8094297760728245	0.88468	0.561	0.72287	A	.;.;.	.;.;.	3.919089	0.57202	23.8	0.99152540238696629	0.53848	0.62533	0.31810	D	AEFDBCI	0.234075	0.35689	N	0.309353032399032	0.56626	3.827759	0.202581184877787	0.49989	3.19586	0.99999059972176	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	3.77	3.77	0.42499	2.640000	0.46245	10.539000	0.83417	0.653000	0.53440	0.997000	0.40164	1.000000	0.68203	0.021000	0.11733	1.0:0.0:0.0:0.0	11.900	0.51956	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2562.06	40	chr4	3493203	.	A	C	2562.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.13;DP=337;ExcessHet=0.4139;FS=0.537;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.57;SOR=0.766	GT:AD:DP:GQ:PL	0/1:40,60:100:99:1553,0,1036	4	0	2	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1003.86	111	chr4	6862306	.	T	C	1003.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.38;DP=673;ExcessHet=6.1542;FS=211.761;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=0.542;SOR=10.035	GT:AD:DP:GQ:PL	0/1:82,26:108:99:209,0,1841	0	0	5	1
chr4	8367059	8367059	C	T	exonic	ACOX3	.	nonsynonymous SNV	ACOX3:NM_001375790:exon15:c.G1675A:p.A559T,ACOX3:NM_001375785:exon17:c.G1918A:p.A640T,ACOX3:NM_001375786:exon17:c.G1918A:p.A640T,ACOX3:NM_001375789:exon17:c.G1720A:p.A574T,ACOX3:NM_001375783:exon18:c.G2005A:p.A669T,ACOX3:NM_001375784:exon18:c.G1933A:p.A645T,ACOX3:NM_003501:exon18:c.G2005A:p.A669T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00425307875779	.	.	3.297e-05	0	0	0	0.0003	1.5e-05	0	6.056e-05	2.59e-05	4	154602	rs771356481	1.368e-05	1.368e-05	8.168e-06	1.925e-05	6.956e-05	8.94e-06	7.26e-06	2.995e-05	2.038e-05	0	2.236e-05	0	0	9.366e-05	0	7.195e-06	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.595	0.08079	T	0.058	0.22967	B	0.053	0.25678	B	0.584200	0.05553	N	1.251400	1	0.18198	N	1.475	0.37068	L	1.04	0.40218	T	-1.73	0.41046	N	0.118	0.20925	-1.0267	0.21527	T	0.059	0.24871	T	10	0.21910763	0.38570	T	0.004253	0.10278	T	0.032	0.07718	0.499	0.58991	0.128392430309	0.12331	0.34470597230209804	0.34383	0.103848864121	0.11752	0.455417811871	0.32684	T	0.133133	0.46364	T	-0.365461	0.03831	T	-0.581208	0.14438	T	0.0285035613924265	0.01762	T	0.727427	0.34191	T	0.03644631	0.04484	0.062370732	0.12191	0.03644631	0.04484	0.062370732	0.12190	-7.724	0.59174	D	.	.	0.075	0.05800	B	.;.	.;.	0.586597	0.09550	6.326	0.75784662774577449	0.11209	0.01668	0.05338	N	AEFDBI	0.033272	0.03914	N	-1.22119263104172	0.04693	0.2123688	-1.23034952171528	0.05428	0.2586283	0.0159405663828798	0.12772	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.16	-0.392	0.11822	0.114000	0.15353	-1.628000	0.05030	-0.223000	0.07921	0.014000	0.18986	0.000000	0.08366	0.077000	0.17074	0.2564:0.4904:0.0:0.2532	4.932	0.13273	982	0.03397	Acyl-CoA oxidase, C-terminal;Acyl-CoA oxidase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1203.83	33	chr4	8367059	.	C	T	1203.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.46;DP=310;ExcessHet=0;FS=1.532;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-0.229;SOR=0.883	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1214,0,1609	5	0	1	0
chr4	8392341	8392341	T	G	exonic	ACOX3	.	nonsynonymous SNV	ACOX3:NM_001375789:exon10:c.A1007C:p.Y336S,ACOX3:NM_001101667:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375783:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375784:exon11:c.A1220C:p.Y407S,ACOX3:NM_001375785:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375786:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375787:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375788:exon11:c.A1292C:p.Y431S,ACOX3:NM_001375790:exon11:c.A1292C:p.Y431S,ACOX3:NM_003501:exon11:c.A1292C:p.Y431S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.800	0.0897392710392	.	.	.	.	.	.	.	.	.	.	.	.	.	rs760192603	2.097e-06	2.736e-06	2.78e-06	1.407e-06	0.0002	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	3.398e-05	0	6.569e-06	6.567e-06	0	1.345e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.001635	0.38439	N	0.222293	1	0.81001	D	4.11	0.97368	H	-1.13	0.77719	T	-8.7	0.97637	D	0.942	0.95956	0.726	0.93496	D	0.742	0.91177	D	10	0.9531937	0.94665	D	0.089739	0.75385	D	0.800	0.93464	0.813	0.92857	0.975632822895	0.97536	0.921681359029239	0.92144	0.589955309425	0.54475	0.711280882359	0.68778	T	0.819331	0.95565	D	0.427034	0.91381	D	0.375629	0.91275	D	0.999425768852234	0.97351	D	0.957404	0.83962	D	0.6483673	0.75277	0.66440296	0.80326	0.6483673	0.75278	0.66440296	0.80326	-13.242	0.90334	D	.	.	0.885	0.81758	P	.;.;.	.;.;.	4.641863	0.73902	26.1	0.98978964652790213	0.49700	0.52202	0.29075	D	AEFGBHCIJ	0.769713	0.70488	D	0.848924320137188	0.89046	9.813688	0.699765880029145	0.82359	7.747931	1.0	0.98316	0.730579	0.87903	0	0.623108	0.53289	0	0.693117	0.63056	0	0.648885	0.59868	0	.	.	4.14	4.14	0.47821	7.189000	0.77281	5.805000	0.49965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:0.0:1.0	12.302	0.54199	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1700.06	35	chr4	8392341	.	T	G	1700.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.56;DP=297;ExcessHet=0.4139;FS=3.708;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.213;SOR=0.628	GT:AD:DP:GQ:PL	0/1:49,32:81:99:731,0,1103	4	0	2	0
chr4	8454788	8454788	T	C	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon6:c.T455C:p.M152T,TRMT44:NM_152544:exon6:c.T1178C:p.M393T	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0076197739081	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs778141191	7.525e-06	7.524e-06	2.722e-06	1.238e-05	6.956e-05	4.04e-06	2.95e-06	2.995e-05	2.038e-05	5.974e-05	0	0	0	0	0	1.799e-06	1.656e-05	6.956e-05	1.314e-05	1.313e-05	2.569e-05	0	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.069	0.43913	T	0.013	0.16609	B	0.032	0.22131	B	0.001593	0.38554	U	0.275749	0.99833	0.44783	D	0.845	0.21182	L	1.59	0.28836	T	-4.41	0.77391	D	0.49	0.52651	-1.0770	0.07942	T	0.044	0.18742	T	10	0.22974265	0.39910	T	0.00762	0.20219	T	0.059	0.16972	0.569	0.69167	0.124217242631	0.12060	0.7435193856091533	0.74297	0.0253543603142	0.02589	0.608304858208	0.54076	T	0.032177	0.22374	T	-0.315017	0.07313	T	-0.508748	0.21443	T	0.668940961360931	0.39290	D	0.667233	0.27634	T	0.23186335	0.45964	0.3053017	0.56558	0.23186335	0.45964	0.3053017	0.56557	-9.815	0.76842	D	.	.	0.146	0.34667	B	.;.	.;.	2.480995	0.31997	18.91	0.94347045403851559	0.24693	0.81636	0.41000	D	AEFBCI	0.200039	0.32680	N	-0.269886082772917	0.30317	1.689301	-0.110677741437791	0.34958	2.01688	0.999741703392266	0.42466	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.33	3.14	0.35196	2.532000	0.45318	-0.215000	0.10817	0.663000	0.56723	1.000000	0.71638	0.001000	0.17328	0.973000	0.55318	0.0:0.0862:0.0:0.9138	9.370	0.37412	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	.	.	.	.	.	.	.	.	0.08333	1430.83	33	chr4	8454788	.	T	C	1430.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.203;DP=301;ExcessHet=0;FS=2.372;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.493;SOR=0.509	GT:AD:DP:GQ:PL	0/1:51,64:115:99:1441,0,1182	5	0	1	0
chr4	9176034	9176034	G	C	exonic	FAM90A26	.	nonsynonymous SNV	FAM90A26:NM_001358418:exon4:c.G1262C:p.G421A	.	1317	203	0	2	0	4	0.0097561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00108803294706	.	.	0.0003	0	0	0	0	0.0006	0	0	2.59e-05	4	154602	rs776320879	0.0003	0.0001	0.0003	0.0003	0.0070	0.0003	0.0002	0.0024	0.0014	0	0	0	0	0	0.0070	0.0003	0.0012	9.145e-05	0.0004	0.0004	0.0007	0.0002	0.0009	0.0002	0.0002	0.0005	0.0004	0	0	0	0	0	0	0	0.0009	0	0	0.557	0.06441	T	0.606	0.07791	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-0.25	0.11008	N	0.108	0.09349	-0.9446	0.41879	T	0.012	0.04463	T	5	0.041347623	0.02782	T	0.001088	0.01287	T	0.052	0.14661	0.085	0.00830	0.0482279557977	0.04254	0.007686523222246897	0.00734	.	.	.	.	.	.	.	.	-0.389137	0.02725	T	-0.796745	0.01985	T	0.0282236134301884	0.01721	T	0.484552	0.14745	T	0.08914007	0.20816	0.099526316	0.23766	0.08914007	0.20816	0.099526316	0.23765	-3.497	0.16389	T	.	.	0.103	0.18456	B	.	.	1.468459	0.18922	14.00	0.97001827149851538	0.31945	0.00454	0.02197	N	AEFI	0.031438	0.03364	N	-0.87999827796498	0.11319	0.5456134	-1.07998750467219	0.08094	0.3965235	2.08968640715857E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.581	0.581	0.16590	0.319000	0.19270	.	.	0.315000	0.19243	0.013000	0.18845	0.001000	0.17328	0.010000	0.09038	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	697.68	.	chr4	9176034	.	G	C	697.68	.	AC=4;AF=1;AN=4;DP=22;ExcessHet=0;FS=0;MLEAC=6;MLEAF=1;MQ=54.23;QD=34.88;SOR=0.892	GT:AD:DP:GQ:PL	1/1:0,6:6:18:215,18,0	0	2	0	4
chr4	24799925	24799925	T	A	exonic	SOD3	.	nonsynonymous SNV	SOD3:NM_003102:exon2:c.T404A:p.L135Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.970909903495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.312	0.19599	T	0.031	0.20130	B	0.028	0.21332	B	0.797306	0.06748	N	1.104920	1	0.08975	N	1.29	0.32370	L	-6.07	0.99513	D	-2.03	0.46673	N	0.097	0.07811	0.911	0.95833	D	0.923	0.97459	D	10	0.32099342	0.49468	T	0.97091	0.99825	D	0.392	0.70764	0.511	0.60846	0.786127256617	0.78414	0.5325198572119996	0.53176	1.52937882776	0.87560	0.479658126831	0.36009	T	0.526358	0.83528	D	0.0889987	0.63076	D	-0.109936	0.62617	T	0.192119932019835	0.19968	T	0.842416	0.51891	T	0.46205315	0.64798	0.27311248	0.53228	0.46205315	0.64799	0.27311248	0.53227	-5.0	0.36840	T	0.1360181212343942	0.14837	0.075	0.05317	B	.	.	2.605194	0.33824	19.45	0.91406386223593628	0.20673	0.10027	0.15644	N	AEFDBCI	0.157605	0.28314	N	-0.571150046554807	0.19825	1.040637	-0.496346534072965	0.22254	1.207849	0.999005646353719	0.38186	0.72623	0.87236	0	0.59043	0.45803	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.75	1.78	0.23918	1.146000	0.31201	-0.917000	0.06933	0.494000	0.22454	0.001000	0.13787	0.000000	0.08366	0.989000	0.64315	0.136:0.0:0.1238:0.7401	8.471	0.32146	946	0.12043	Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding 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	.	.	.	.	.	.	.	.	0.08333	582.83	42	chr4	24799925	.	T	A	582.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=275;ExcessHet=0;FS=1.953;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=-0.185;SOR=0.941	GT:AD:DP:GQ:PL	0/1:54,25:79:99:593,0,1383	5	0	1	0
chr4	48035952	48035952	T	C	exonic	NIPAL1	.	nonsynonymous SNV	NIPAL1:NM_207330:exon6:c.T1013C:p.I338T	.	.	.	.	.	.	.	.	.	.	.	2328206	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.453	0.0332381953104	.	.	4.942e-05	0	0	0.0001	0	5.994e-05	0	6.056e-05	4.53e-05	7	154602	rs775014256	5.063e-05	5.062e-05	5.173e-05	4.951e-05	0.0002	4.126e-05	3.779e-05	9.795e-05	7.841e-05	5.975e-05	0	0	2.519e-05	0	0	5.036e-05	1.656e-05	0.0002	3.941e-05	3.94e-05	2.569e-05	5.378e-05	7.348e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0	0	7.348e-05	0	0	0.038	0.42783	D	0.1	0.38742	T	0.345	0.33546	B	0.247	0.38902	B	0.000190	0.48115	D	0.145945	0.987868	0.40663	D	1.4	0.35362	L	-2.7	0.90509	D	-3.54	0.68651	D	0.178	0.19190	0.165	0.85310	D	0.654	0.87977	D	9	0.29677218	0.47240	T	0.033238	0.54840	D	0.453	0.75279	.	.	0.296679040009	0.29266	0.4941284440358793	0.49333	0.147803884116	0.16675	0.545851349831	0.45272	T	0.576935	0.86085	D	-0.12995	0.31503	T	-0.124117	0.61462	T	0.0904277718729602	0.11269	T	0.754025	0.37642	T	0.29145738	0.52127	0.27233192	0.53143	0.29145738	0.52127	0.27233192	0.53142	-7.003	0.54055	T	.	.	0.054	0.00297	B	.	.	3.480350	0.48598	22.6	0.96518779610608929	0.30108	0.94935	0.62843	D	AEFGBI	0.423392	0.48899	N	0.105672039291961	0.46726	2.908715	0.207801948254664	0.50279	3.221714	0.999999984182775	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.96	5.96	0.96695	4.073000	0.57290	7.850000	0.70922	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:0.0674:0.0:0.9326	12.277	0.54060	412	0.82007	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1798.83	33	chr4	48035952	.	T	C	1798.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.6;DP=356;ExcessHet=0;FS=2.931;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.019;SOR=0.94	GT:AD:DP:GQ:PL	0/1:84,67:151:99:1809,0,2143	5	0	1	0
chr4	48110554	48110554	T	C	exonic	TXK	.	nonsynonymous SNV	TXK:NM_003328:exon5:c.A430G:p.N144D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0896346304053	0.0002	.	6.94e-05	0	0	0	0	0.0001	0	6.283e-05	7.76e-05	12	154602	rs139881249	6.172e-05	6.293e-05	6.005e-05	6.34e-05	0.0003	5.107e-05	4.727e-05	7.302e-05	5.174e-05	2.993e-05	0.0002	0	0	0	0.0003	5.589e-05	0.0002	9.304e-05	0.0001	0.0001	0.0001	9.397e-05	0.0002	6.507e-05	5.319e-05	0.0001	8.878e-05	0	0	6.534e-05	0	0	0	0	0.0002	0.0005	0.0002	0.182	0.21801	T	0.3	0.20357	T	0.023	0.18885	B	0.027	0.21085	B	0.004552	0.33627	N	0.247625	0.942685	0.37381	D	1.535	0.38868	L	-2.99	0.92108	D	-2.65	0.56787	D	0.202	0.22357	-0.0324	0.81579	T	0.573	0.84549	D	10	0.1676079	0.31265	T	0.089635	0.75365	D	0.414	0.72479	.	.	0.944427701651	0.94384	0.5710607962803224	0.57034	0.190360239417	0.21353	0.740981578827	0.73118	T	0.233207	0.59995	T	-0.153281	0.27799	T	-0.198275	0.54810	T	0.0402485057711601	0.03736	T	0.668933	0.27772	T	0.20539308	0.42680	0.23669781	0.48948	0.20539308	0.42679	0.23669781	0.48947	-5.423	0.41140	T	.	.	0.168	0.36966	B	.	.	4.026256	0.59503	24.1	0.99291581524740646	0.58290	0.85478	0.44614	D	AEFDBI	0.513939	0.54152	D	-0.0997486342721405	0.37404	2.17561	0.0880822517319222	0.43947	2.68607	0.999962017816673	0.48965	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	2.408000	0.44227	7.632000	0.62779	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	11.081	0.47277	429	0.80881	Tyrosine-protein kinase TXK, SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.08333	1079.83	30	chr4	48110554	.	T	C	1079.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.08;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.601;SOR=0.684	GT:AD:DP:GQ:PL	0/1:26,43:69:99:1090,0,540	5	0	1	0
chr4	48540671	48540671	T	C	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon46:c.A5977G:p.T1993A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00404465790344	.	.	8.295e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs754880798	1.71e-05	1.71e-05	1.906e-05	1.513e-05	0.0002	1.174e-05	9.92e-06	1.377e-05	1.15e-05	0	0	0	0	0	0.0002	2.069e-05	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.352	0.12226	T	0.546	0.09555	T	0.0	0.02946	B	0.001	0.04355	B	0.045147	0.23566	N	0.509340	1	0.81001	D	1.265	0.31966	L	1.97	0.22067	T	-0.41	0.14000	N	0.221	0.24883	-0.9931	0.31801	T	0.027	0.11529	T	10	0.08074024	0.13140	T	0.004045	0.09618	T	0.034	0.08419	0.229	0.15556	0.21174354426	0.20776	0.24354827723945732	0.24268	0.250559950922	0.27623	0.373635292053	0.21352	T	0.01277	0.11161	T	-0.227216	0.17018	T	-0.54867	0.17453	T	0.0553281465118592	0.06413	T	0.775222	0.40690	T	0.021253377	0.00718	0.022767855	0.00296	0.021253377	0.00718	0.022767855	0.00296	-4.006	0.23893	T	.	.	0.060	0.00876	B	.;.	.;.	1.090395	0.14740	11.29	0.44113217514059877	0.03368	0.86309	0.45564	D	AEFBI	0.144326	0.26726	N	-0.915343281695183	0.10483	0.5011496	-0.828052506269543	0.13816	0.7187755	0.986145196903269	0.31012	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	-1.43	0.08418	1.309000	0.33145	0.470000	0.18703	-0.133000	0.13014	1.000000	0.71638	0.999000	0.35428	0.017000	0.10941	0.0:0.1266:0.3605:0.5129	7.215	0.25133	131	0.94738	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1284.83	33	chr4	48540671	.	T	C	1284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.78;DP=280;ExcessHet=0;FS=1.617;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-2.401;SOR=0.929	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1295,0,1270	5	0	1	0
chr4	51994810	51994810	C	T	exonic	LRRC66	.	nonsynonymous SNV	LRRC66:NM_001024611:exon5:c.G2212A:p.E738K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00284065792155	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs199780048	1.847e-05	1.847e-05	2.314e-05	1.375e-05	2.519e-05	1.265e-05	1.084e-05	1.46e-05	1.227e-05	0	0	0	2.519e-05	0	0	2.158e-05	3.311e-05	0	3.942e-05	3.94e-05	5.138e-05	2.69e-05	5.88e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	9.416e-05	0	5.88e-05	0	0	0.474	0.08384	T	0.556	0.09236	T	0.062	0.23277	B	0.011	0.15521	B	0.324370	0.04093	N	1.455540	1	0.08975	N	1.04	0.26193	L	1.88	0.23884	T	-0.28	0.11547	N	0.046	0.01825	-1.0212	0.23324	T	0.028	0.12103	T	10	0.040305316	0.02589	T	0.002841	0.05956	T	0.001	0.00016	0.108	0.01928	0.0716867268079	0.06686	0.01869492291980193	0.01823	0.0274467866167	0.02809	0.236933469772	0.02521	T	0.003879	0.03292	T	-0.363731	0.03923	T	-0.760251	0.03104	T	0.0297267530113459	0.01947	T	0.460354	0.13329	T	0.027397504	0.01926	0.044077985	0.05631	0.027397504	0.01925	0.044077985	0.05630	-3.724	0.19673	T	.	.	0.070	0.03661	B	.	.	-0.603864	0.01561	0.103	0.13574801377532345	0.00272	0.00451	0.02188	N	AEFBI	0.031032	0.03236	N	-1.54102507135579	0.01587	0.06937356	-1.60036519672941	0.01653	0.07504044	0.0210091275270399	0.13311	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.0	-3.85	0.03964	-1.873000	0.01729	-5.778000	0.01599	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.1969:0.4198:0.3833	5.606	0.16661	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2990.83	38	chr4	51994810	.	C	T	2990.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.051;DP=410;ExcessHet=0;FS=1.013;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.065;SOR=0.746	GT:AD:DP:GQ:PL	0/1:111,118:229:99:3001,0,2766	5	0	1	0
chr4	69480739	69480764	AGTCACATCCAAAGAGTGGTACTGGA	-	exonic	UGT2B4	.	frameshift deletion	UGT2B4:NM_021139:exon6:c.1457_1482del:p.F486Wfs*26,UGT2B4:NM_001297616:exon7:c.1049_1074del:p.F350Wfs*26	.	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2487.79	33	chr4	69480738	.	CAGTCACATCCAAAGAGTGGTACTGGA	C	2487.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=366;ExcessHet=0;FS=3.427;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.712;SOR=0.549	GT:AD:DP:GQ:PL	0/1:120,69:189:99:2498,0,4808	5	0	1	0
chr4	76367551	76367551	G	-	exonic	CCDC158	.	frameshift deletion	CCDC158:NM_001042784:exon11:c.1573delC:p.R525Gfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3860.03	33	chr4	76367550	.	CG	C	3860.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.296;DP=355;ExcessHet=0.4139;FS=0.514;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=0.368;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,57:106:99:0|1:76367550_CG_C:2210,0,1876:76367550	4	0	2	0
chr4	87317141	87317141	T	C	exonic	HSD17B13	.	nonsynonymous SNV	HSD17B13:NM_001136230:exon2:c.A293G:p.D98G,HSD17B13:NM_178135:exon3:c.A401G:p.D134G	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.229778576208	.	.	0.0002	9.621e-05	0	0	0	0.0003	0	0.0002	0.0002911	45	154602	rs201763274	0.0003	0.0003	0.0003	0.0003	0.0038	0.0003	0.0003	0.0026	0.0022	0.0002	0.0002	0	0	5.616e-05	0.0038	0.0003	0.0006	0.0004	0.0003	0.0003	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	9.621e-05	0	0.0001	0	0	0	0.0068	0.0004	0.0019	0.0006	0.003	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.97372	D	0.000058	0.53742	D	0.076120	0.999959	0.52396	D	2.415	0.69758	M	-2.31	0.87750	D	-6.69	0.92736	D	0.659	0.66873	0.691	0.93059	D	0.771	0.92202	D	10	0.8129598	0.80562	D	0.229779	0.88200	D	0.749	0.91371	.	.	0.963170002684	0.96277	0.4611301948576589	0.46031	0.606544782577	0.55501	0.513210296631	0.40671	T	0.386598	0.74772	T	0.0219443	0.54645	T	0.109901	0.77566	D	0.499909609556198	0.32626	T	0.817118	0.51609	T	0.91406256	0.92677	0.87588525	0.93275	0.91406256	0.92678	0.87588525	0.93275	-7.929	0.77139	D	.	.	0.468	0.73863	A	.;.	.;.	4.930394	0.81284	27.5	0.99852085454677741	0.93102	0.94391	0.61016	D	AEFDGCIJ	0.893684	0.83190	D	0.678693803380303	0.78236	6.831131	0.612490416410943	0.75846	6.383358	0.99999999682251	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	6.596000	0.73995	7.615000	0.62066	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.0:0.0:0.0:1.0	14.713	0.68862	655	0.62421	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.010870	0.002924	0.050000	0.000000	0.003049	0.000000	0.08333	1544.83	37	chr4	87317141	.	T	C	1544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.199;DP=284;ExcessHet=0;FS=1.511;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.737;SOR=0.853	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1555,0,1172	5	0	1	0
chr4	87615398	87615398	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	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	788.6	22	chr4	87615398	.	T	*	788.6	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.195;DP=179;ExcessHet=0.2119;FS=10.399;MLEAC=2;MLEAF=0.2;MQ=59.14;MQRankSum=0.793;QD=7.89;ReadPosRankSum=1.07;SOR=0.616	GT:AD:DP:GQ:PL	0/1:9,12:21:99:477,0,321	3	0	2	1
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	775.23	20	chr4	87615730	.	ATAG	*	775.23	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-0.524;DP=195;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.92;MQRankSum=1.78;QD=5.46;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,13:23:99:0|1:87615730_ATAG_A:1391,387,343:87615730	1	3	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	828.83	20	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	828.83	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.04;DP=204;ExcessHet=0;FS=3.182;MLEAC=8;MLEAF=0.667;MQ=57.76;MQRankSum=1.78;QD=5.84;ReadPosRankSum=1.74;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,13:23:99:0|1:87615730_ATAG_A:1369,367,338:87615730	1	3	2	0
chr4	99652407	99652407	C	G	exonic	C4orf54	.	nonsynonymous SNV	C4orf54:NM_001354435:exon2:c.G2242C:p.V748L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.016241645961	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746888603	9.394e-06	8.893e-06	8.56e-06	1.025e-05	1.112e-05	5.24e-06	4.04e-06	5.93e-06	4.68e-06	0	0	0	0	0	0	1.112e-05	1.727e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.31	0.16794	T	-0.17	0.09627	N	0.542	0.56919	-1.0034	0.28933	T	0.043	0.18618	T	6	0.38003427	0.54124	T	0.016242	0.37399	T	0.043	0.11576	0.311	0.28451	0.12205267543	0.11705	0.3788483603366335	0.37799	.	.	.	.	.	0.021509	0.16737	T	-0.188476	0.22482	T	-0.483329	0.24092	T	0.226325621924375	0.21775	T	0.584642	0.21276	T	0.12392763	0.29088	0.16435611	0.38077	0.12392763	0.29088	0.16435611	0.38076	-3.629	0.18277	T	.	.	0.471	0.63224	A	.	.	3.368599	0.46543	22.3	0.98599976278988866	0.43493	0.93826	0.59302	D	AEFBI	0.489960	0.52764	N	-0.194641895693931	0.33357	1.891542	-0.176265416296327	0.32412	1.843722	0.999975630798971	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.66	3.82	0.43153	2.037000	0.40795	3.644000	0.39356	-0.176000	0.10722	0.713000	0.28751	0.999000	0.35428	0.126000	0.19410	0.0:0.9188:0.0:0.0812	12.504	0.55313	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1805.83	34	chr4	99652407	.	C	G	1805.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.34;DP=455;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.521;SOR=0.778	GT:AD:DP:GQ:PL	0/1:96,72:168:99:1816,0,2411	5	0	1	0
chr4	106235347	106235347	G	T	exonic	TBCK	.	nonsynonymous SNV	TBCK:NM_033115:exon13:c.C1182A:p.N394K,TBCK:NM_001163435:exon15:c.C1371A:p.N457K,TBCK:NM_001163436:exon15:c.C1371A:p.N457K,TBCK:NM_001163437:exon15:c.C1254A:p.N418K,TBCK:NM_001290768:exon16:c.C855A:p.N285K	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, Autosomal recessive	440	1081	1	0	0	1	0.000462321	.	.	YES	1497090	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.011979158664	.	0.000199681	0.0001	0.0001	0.0001	0.0001	0	7.543e-05	0	0.0004	7.68e-05	2	26028	rs532862191	7.767e-05	8.14e-05	6.839e-05	8.705e-05	0.0002	6.564e-05	6.165e-05	0.0002	0.0001	0.0001	0.0002	0.0005	0.0001	1.908e-05	0.0002	4.871e-05	0.0001	0.0002	9.898e-05	0.0001	9.029e-05	0.0001	0.0002	6.032e-05	4.9e-05	3.257e-05	1.92e-05	9.683e-05	0	0	0.0017	0	0	0	4.425e-05	0.0005	0.0002	0.073	0.35165	T	0.295	0.22694	T	0.013	0.44910	B	0.003	0.35118	B	0.000000	0.84330	D	0.000000	0.999586	0.47691	D	1.465	0.36909	L	2.94	0.09728	T	-0.78	0.22508	N	0.606	0.62357	-0.9616	0.38877	T	0.017	0.06998	T	10	0.06402174	0.08427	T	0.011979	0.30135	T	0.097	0.27909	0.444	0.50139	0.235038932564	0.23097	0.46753077888172206	0.46672	0.0834057925702	0.09409	0.767661035061	0.77075	T	0.009945	0.09021	T	-0.357371	0.04281	T	-0.47168	0.25334	T	0.0151173736909651	0.00328	T	0.812919	0.46506	T	0.2819503	0.51235	0.15598164	0.36540	0.2819503	0.51235	0.15598164	0.36539	-4.084	0.25054	T	0.10654904752506524	0.08576	0.34	0.55909	A	.;.;.;.;.	.;.;.;.;.	1.568837	0.20088	14.58	0.97113244956102907	0.32422	0.95490	0.64928	D	AEFBI	0.585850	0.58412	D	-0.560641518045074	0.20151	1.060209	-0.4274623389679	0.24196	1.323582	0.985326419623954	0.30868	0.744818	0.98587	0	0.709663	0.81188	0	0.653264	0.51672	0	0.76194	0.99817	0	.	.	5.9	0.724	0.17389	2.687000	0.46643	3.581000	0.39157	-0.666000	0.04332	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.6634:0.0:0.3366:0.0	10.652	0.44850	720	0.55521	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	516.83	36	chr4	106235347	.	G	T	516.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.052;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-1.781;SOR=0.656	GT:AD:DP:GQ:PL	0/1:33,26:61:99:527,0,767	5	0	1	0
chr4	108079592	108079592	C	T	exonic	LEF1	.	nonsynonymous SNV	LEF1:NM_001130713:exon6:c.G661A:p.G221S,LEF1:NM_001130714:exon6:c.G661A:p.G221S,LEF1:NM_001166119:exon6:c.G457A:p.G153S,LEF1:NM_016269:exon7:c.G745A:p.G249S	Sebaceous tumors, somatic (3)	421	1099	2	0	0	2	0.000909091	.	.	.	2211604	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.578	0.182070761353	7.7e-05	.	3.296e-05	0	0	0	0	0	0.0011	0.0002	2.59e-05	4	154602	rs146861754	2.258e-05	2.257e-05	1.225e-05	3.3e-05	0.0007	1.61e-05	1.416e-05	0.0002	0.0001	0	4.473e-05	0	2.52e-05	1.872e-05	0.0007	5.396e-06	9.935e-05	0.0002	1.317e-05	1.314e-05	1.287e-05	1.348e-05	0.0004	2.19e-06	8.2e-07	7.355e-05	3.053e-05	0	0	0	0	0	0	0	0	0	0.0004	0.895	0.19293	T	0.675	0.10714	T	0.238	0.90584	B	0.079	0.92359	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.87	0.49600	L	-5.38	0.99184	D	-0.9	0.24244	N	0.696	0.71942	0.780	0.94167	D	0.925	0.97534	D	10	0.59727633	0.66713	D	0.182071	0.85597	D	0.578	0.82968	.	.	0.861820941678	0.86048	0.42433645578686824	0.42350	0.618344074146	0.56229	0.834750890732	0.87291	D	0.390528	0.75068	T	0.158985	0.70107	D	0.264894	0.86323	D	0.395478039979935	0.28772	T	0.927007	0.87317	D	0.2153556	0.43966	0.2670326	0.52555	0.2153556	0.43966	0.2670326	0.52554	-4.839	0.48666	T	.	.	0.102	0.18164	B	.;.;.;.	.;.;.;.	4.037111	0.59739	24.1	0.99715320527982343	0.81633	0.98623	0.84820	D	AEFDBI	0.847743	0.76458	D	0.203272514179013	0.51356	3.31764	0.356098131911315	0.58875	4.061011	0.999999999999946	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.85	5.85	0.93663	4.894000	0.62897	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.173	0.98166	943	0.12886	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4368.06	45	chr4	108079592	.	C	T	4368.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.11;DP=516;ExcessHet=0.4139;FS=4.053;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.08;SOR=0.9	GT:AD:DP:GQ:PL	0/1:97,79:176:99:1923,0,2381	4	0	2	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	934.55	65	chr4	140563137	.	C	G	934.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.76;DP=431;ExcessHet=11.5949;FS=323.709;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=-0.33;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,33:83:99:0|1:140563137_C_G:318,0,1302:140563137	0	0	6	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	969.55	63	chr4	140563138	.	C	G	969.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.563;DP=431;ExcessHet=11.5949;FS=374.425;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=-0.184;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,33:83:99:0|1:140563137_C_G:318,0,1302:140563137	0	0	6	0
chr4	153397308	153397308	T	G	exonic	MND1	.	nonsynonymous SNV	MND1:NM_032117:exon6:c.T441G:p.C147W	.	435	1073	12	2	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.720	.	0.0004	0.00219649	0.0019	0	0.0002	0	0	0.0004	0.0026	0.0125	0.0014553	225	154602	rs34155513	0.0009	0.0009	0.0005	0.0013	0.0120	0.0009	0.0009	0.0114	0.0112	5.979e-05	0.0002	0	0	0	0.0050	0.0002	0.0011	0.0120	0.0006	0.0006	0.0003	0.0010	0.0124	0.0005	0.0005	0.0099	0.0090	2.405e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0124	0.098	0.40573	T	0.18	0.29442	T	0.987	0.61912	D	0.865	0.61524	P	0.000000	0.84330	D	0.041461	1	0.81001	D	3.37	0.91327	M	.	.	.	-6.4	0.96218	D	0.748	0.74735	-0.5454	0.66960	T	0.324	0.69255	T	9	0.012475997	0.00268	T	.	.	.	0.720	0.90101	.	.	0.361758802978	0.35793	0.6569080204790706	0.65627	0.511586276825	0.49235	0.618680477142	0.55543	T	0.26077	0.63218	T	-0.109848	0.34792	T	0.078829	0.75499	D	0.159456358214955	0.17831	T	0.911709	0.72366	D	0.54064786	0.69433	0.54937625	0.73947	0.54064786	0.69434	0.54937625	0.73947	-11.202	0.80754	D	.	.	0.452	0.65185	A	.;.	.;.	4.259806	0.64723	24.7	0.99216729701269402	0.55777	0.92021	0.54770	D	AEFGBI	0.652997	0.62619	D	0.341669177866107	0.58299	4.001551	0.244616661895043	0.52343	3.409832	0.0457380989113274	0.14663	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.44	2.94	0.33188	2.929000	0.48610	4.131000	0.42030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1629:0.0:0.8371	8.238	0.30798	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.009202	0.011364	0.1667	1479.06	33	chr4	153397308	.	T	G	1479.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.02;DP=274;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.442;SOR=0.725	GT:AD:DP:GQ:PL	0/1:39,26:65:99:642,0,940	4	0	2	0
chr4	176168769	176168769	G	A	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378106:exon22:c.G2923A:p.D975N,WDR17:NM_001378105:exon23:c.G2944A:p.D982N,WDR17:NM_181265:exon23:c.G3088A:p.D1030N,WDR17:NM_001378104:exon24:c.G3109A:p.D1037N,WDR17:NM_001350727:exon25:c.G3181A:p.D1061N,WDR17:NM_001378103:exon25:c.G3181A:p.D1061N,WDR17:NM_170710:exon25:c.G3205A:p.D1069N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0329249949717	.	0.000399361	0.0005	0	0.0002	0	0	3.005e-05	0	0.0037	0.0004398	68	154602	rs574978015	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	0	0.0002	0	2.532e-05	0	0.0002	3.871e-05	0.0002	0.0037	0.0001	0.0001	8.994e-05	0.0002	0.0025	9.74e-05	8.255e-05	0.0014	0.0011	0	0	6.54e-05	0	0	0	0.0034	0.0001	0	0.0025	0.02	0.50676	D	0.047	0.49663	D	0.917	0.50750	P	0.37	0.43538	B	0.002591	0.36278	N	0.268392	0.994681	0.42376	D	2.505	0.72935	M	0.44	0.57575	T	-0.92	0.24676	N	0.187	0.23758	-0.6827	0.61248	T	0.180	0.52644	T	10	0.011770129	0.00256	T	0.032925	0.54619	D	0.145	0.38592	.	.	0.82342218508	0.82175	0.5079307112053503	0.50715	0.511501246089	0.49225	0.421724498272	0.28074	T	0.010514	0.09491	T	-0.491768	0.00636	T	-0.481273	0.24311	T	0.0983436100609879	0.12174	T	0.952105	0.81652	D	0.108887576	0.25744	0.076495655	0.16948	0.108887576	0.25744	0.076495655	0.16948	-2.716	0.07955	T	.	.	0.089	0.15206	B	.;.;.	.;.;.	3.155491	0.42731	21.6	0.99858555729913656	0.93729	0.92693	0.56315	D	AEFI	0.526181	0.54864	D	0.390529622823843	0.60910	4.285172	0.398928333752041	0.61500	4.350831	0.0039092862468648	0.10332	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.1	4.26	0.49832	4.519000	0.60234	4.476000	0.43515	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0741:0.0:0.9259:0.0	13.774	0.62527	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	585.83	36	chr4	176168769	.	G	A	585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.815;DP=243;ExcessHet=0;FS=2.177;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.865;SOR=0.443	GT:AD:DP:GQ:PL	0/1:44,23:67:99:596,0,1161	5	0	1	0
chr4	186707592	186707592	T	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.A2236G:p.T746A	.	433	1064	24	1	0	26	0.0120706	.	.	.	734578	FAT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.048	.	0.0002	0.00199681	0.0017	0.0001	0.0004	0	0	0.0005	0.0022	0.0099	0.0014618	226	154602	rs372906523	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	5.974e-05	0.0004	0.0014	2.519e-05	0	0.0040	0.0003	0.0011	0.0092	0.0005	0.0005	0.0004	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	7.217e-05	0	0.0002	0.0012	0	0	0	0.0004	0.0014	0.0077	0.33	0.13131	T	0.176	0.29843	T	0.0	0.02946	B	0.003	0.08700	B	0.000094	0.51296	D	0.202552	0.775	0.29395	N	-0.06	0.04898	N	0.72	0.50976	T	-0.84	0.22944	N	0.047	0.02559	-1.0245	0.22246	T	0.059	0.24908	T	10	0.01055342	0.00234	T	.	.	.	0.048	0.13305	.	.	0.241664281697	0.23763	0.20750701503381078	0.20666	0.0949219852667	0.10718	0.296818077564	0.09928	T	0.091958	0.38904	T	-0.561521	0.00249	T	-0.571828	0.15283	T	0.00803127333825077	0.00095	T	0.689731	0.32156	T	0.056769855	0.11213	0.036439214	0.03093	0.050833844	0.09244	0.042284794	0.05000	-3.188	0.12334	T	.	.	0.073	0.04640	B	.;.	.;.	2.579197	0.33439	19.34	0.96441929633970203	0.29830	0.89859	0.50602	D	AEFBCI	0.464412	0.51292	N	-0.472804261906456	0.22975	1.230519	-0.284387891058474	0.28611	1.596661	0.999998175127888	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	4.99	3.78	0.42629	1.942000	0.39870	2.062000	0.30399	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.2088:0.0871:0.0:0.704	4.981	0.13509	951	0.11083	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.08333	1780.83	110	chr4	186707592	.	T	C	1780.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.491;DP=625;ExcessHet=0;FS=2.722;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.909;SOR=0.7	GT:AD:DP:GQ:PL	0/1:94,74:168:99:1791,0,2445	5	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	.	.	.	.	.	.	.	.	0.25	306.08	90	chr4	189957425	.	A	G	306.08	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.484;DP=465;ExcessHet=1.383;FS=2.032;MLEAC=3;MLEAF=0.25;MQ=47.23;MQRankSum=-0.269;QD=1.24;ReadPosRankSum=-0.094;SOR=0.908	GT:AD:DP:GQ:PL	0/1:77,12:89:58:58,0,2073	3	0	3	0
chr5	6623227	6623227	C	T	exonic	NSUN2	.	nonsynonymous SNV	NSUN2:NM_001193455:exon4:c.G419A:p.R140Q,NSUN2:NM_017755:exon5:c.G524A:p.R175Q	Mental retardation, autosomal recessive 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00348143134696	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs778979236	1.992e-05	2.121e-05	2.05e-05	1.934e-05	0.0001	1.398e-05	1.208e-05	5.501e-05	4.118e-05	0	0	0	0	0	0	1.801e-05	0	0.0001	1.324e-05	1.317e-05	2.586e-05	0	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	0	0	0.0002	1.0	0.00964	T	0.71	0.05525	T	0.003	0.11197	B	0.007	0.12992	B	0.018013	0.27584	N	0.448973	1	0.81001	D	-0.61	0.02200	N	1.43	0.32958	T	0.88	0.01893	N	0.245	0.29659	-0.9881	0.33077	T	0.020	0.08266	T	10	0.057960212	0.06740	T	0.003481	0.07878	T	0.059	0.16972	0.473	0.54859	0.282416095408	0.27849	0.08046845093186249	0.07981	0.824915363401	0.67344	0.270058959723	0.06148	T	0.034139	0.23202	T	-0.469067	0.00861	T	-0.66325	0.08049	T	0.0302337608142367	0.02025	T	0.893711	0.63166	D	0.01971735	0.00509	0.026965803	0.00817	0.01971735	0.00508	0.026965803	0.00817	-1.266	0.01348	T	0.07691063429642532	0.03555	0.051	0.00259	B	.;.	.;.	1.841102	0.23390	16.00	0.40639192039213073	0.02881	0.17320	0.19786	N	AEFDBCI	0.030627	0.03121	N	-1.03028860785232	0.07980	0.3725845	-0.807134667552818	0.14324	0.7477991	0.999995923022593	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	5.26	2.73	0.31266	3.746000	0.54846	1.404000	0.26222	-0.254000	0.07082	1.000000	0.71638	0.960000	0.29291	0.237000	0.22922	0.0:0.2175:0.0:0.7825	9.174	0.36263	851	0.35303	SAM-dependent methyltransferase RsmB/NOP2-type|SAM-dependent methyltransferase RsmB/NOP2-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	.	.	.	.	.	.	.	.	0.08333	688.83	33	chr5	6623227	.	C	T	688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.334;DP=247;ExcessHet=0;FS=3.581;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.88;SOR=0.702	GT:AD:DP:GQ:PL	0/1:31,29:60:99:699,0,790	5	0	1	0
chr5	37243028	37243028	A	G	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon6:c.T662C:p.V221A,CPLANE1:NM_023073:exon6:c.T662C:p.V221A	.	2	1507	13	0	0	13	0.00429468	.	.	.	297483	CPLANE1-related_disorder|not_provided|not_specified|Joubert_syndrome_17	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00442222832767	.	0.000399361	0.0026	0	0	0	0	0	0.0041	0.0071	0.000414	64	154602	rs370118778	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0045	0.0044	3.237e-05	2.996e-05	0	0	0	0.0018	3.632e-05	0.0004	0.0050	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	0	0	0	0	0	0	0	0.0001	0.0005	0.0050	1.0	0.00964	T	0.382	0.15890	T	.	.	.	.	.	.	0.956175	0.07688	U	1.027200	1	0.20581	N	.	.	.	2.02	0.21119	T	-0.78	0.21644	N	0.132	0.18376	-0.9746	0.36213	T	0.042	0.17994	T	10	0.0038867295	0.00074	T	0.004422	0.10812	T	0.017	0.02790	0.373	0.38503	0.0401082797425	0.02173	0.03654449711803922	0.03601	0.14803209789	0.16696	.	.	.	0.012286	0.10825	T	-0.581761	0.00188	T	-0.606517	0.12270	T	0.0156229281897377	0.00358	T	0.511749	0.16382	T	0.049789272	0.08895	0.038772095	0.03821	0.043329377	0.06731	0.03546149	0.02803	-3.784	0.20566	T	0.6817870983535568	0.75827	0.094	0.14660	B	.;.	.;.	1.343888	0.17504	13.20	0.84688375004145366	0.15439	0.05131	0.10939	N	AEBI	0.036251	0.04802	N	-0.791177121667441	0.13539	0.6677006	-0.772964209158973	0.15159	0.7958581	0.00384773311079576	0.10303	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.48	1.63	0.22882	0.131000	0.15696	1.669000	0.27944	0.665000	0.62972	0.001000	0.13787	0.012000	0.20211	0.979000	0.57723	0.5302:0.3048:0.1649:0.0	4.797	0.12646	161	0.93754	.;.	.	.	.	.	.	Likely benign	0	0	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	0.002457	0.000000	0.000000	0.004425	0.000000	0.000000	0.011905	0.000000	0.08333	662.83	40	chr5	37243028	.	A	G	662.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.515;DP=227;ExcessHet=0;FS=0.995;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.041;SOR=0.56	GT:AD:DP:GQ:PL	0/1:27,29:56:99:673,0,597	5	0	1	0
chr5	37291973	37291973	C	A	exonic	NUP155	.	nonsynonymous SNV	NUP155:NM_001278312:exon34:c.G3911T:p.S1304I,NUP155:NM_004298:exon35:c.G3926T:p.S1309I,NUP155:NM_153485:exon35:c.G4103T:p.S1368I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.430	0.0280342656574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.055	0.46862	T	0.695	0.46346	P	0.11	0.38432	B	0.000001	0.62929	D	0.128731	0.99966	0.48141	D	1.78	0.46185	L	-1.14	0.77843	T	-2.23	0.56466	N	0.391	0.60918	-0.5417	0.67099	T	0.281	0.65239	T	10	0.29541677	0.47110	T	0.028034	0.50772	D	0.430	0.73662	0.597	0.72739	0.460629033866	0.45690	0.45845532289454033	0.45763	0.277069587991	0.30180	0.629613518715	0.57091	T	0.261188	0.63265	T	0.0483667	0.58132	T	-0.168301	0.57599	T	0.880813777446747	0.53085	D	0.891911	0.62748	D	0.20924553	0.43186	0.13843252	0.33060	0.20924553	0.43186	0.13843252	0.33059	-5.925	0.45647	T	.	.	0.294	0.52881	B	.;.;.	.;.;.	4.060015	0.60248	24.2	0.98564908621494551	0.43025	0.96233	0.68148	D	AEFGBI	0.672605	0.63895	D	0.251542859743216	0.53715	3.539227	0.343880334637421	0.58141	3.982876	0.999993929661586	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.232000	0.58445	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9212:0.0:0.0788	11.998	0.52508	181	0.92953	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2151.06	34	chr5	37291973	.	C	A	2151.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.147;DP=262;ExcessHet=0.4139;FS=4.532;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=2.33;SOR=0.649	GT:AD:DP:GQ:PL	0/1:22,32:54:99:815,0,483	4	0	2	0
chr5	38370430	38370430	G	A	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_001205301:exon6:c.G680A:p.R227H,EGFLAM:NM_152403:exon6:c.G680A:p.R227H	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	.	0.0111821	0.0062	0.0002	8.699e-05	0.0001	0	6.025e-05	0.0033	0.0450	0.0054268	839	154602	rs199795131	0.0026	0.0026	0.0015	0.0038	0.0413	0.0025	0.0025	0.0402	0.0398	0.0001	2.236e-05	0	7.558e-05	0	0.0024	3.777e-05	0.0030	0.0413	0.0015	0.0015	0.0008	0.0023	0.0471	0.0014	0.0013	0.0421	0.0401	2.406e-05	0	0	0	0	0	0	2.94e-05	0	0.0471	0.07	0.35349	T	0.156	0.31936	T	0.988	0.62325	D	0.768	0.56752	P	0.019805	0.27175	N	0.428011	0.791324	0.34390	D	1.445	0.36358	L	0.58	0.54149	T	-0.97	0.27259	N	0.07	0.05287	-0.8731	0.50295	T	0.189	0.53975	T	10	0.0070835054	0.00161	T	.	.	.	0.170	0.43303	.	.	0.536100336011	0.53261	0.38879199742052	0.38794	0.119961035255	0.13508	0.286980509758	0.08485	T	0.080182	0.36304	T	-0.565016	0.00237	T	-0.552248	0.17110	T	0.0517918391206317	0.05812	T	0.812919	0.46506	T	0.06071386	0.12491	0.04724719	0.06766	0.06071386	0.12490	0.04724719	0.06765	-6.556	0.50716	T	.	.	0.106	0.31406	B	.;.	.;.	2.811907	0.37022	20.4	0.99754050353713486	0.84537	0.76663	0.37617	D	AEFGBI	0.311457	0.41718	N	0.000208041462100544	0.41865	2.511844	-0.0171782424336513	0.38939	2.301382	0.999592540791192	0.40745	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.82	1.85	0.24418	1.253000	0.32488	4.665000	0.44254	-0.159000	0.11634	0.995000	0.38783	1.000000	0.68203	0.952000	0.50033	0.0:0.4351:0.2538:0.3111	9.902	0.40520	909	0.22467	Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.015152	0.08333	747.83	33	chr5	38370430	.	G	A	747.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.372;DP=224;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.697;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,22:57:99:0|1:38370430_G_A:758,0,1362:38370430	5	0	1	0
chr5	41195931	41195931	G	A	exonic	C6	.	nonsynonymous SNV	C6:NM_000065:exon5:c.C448T:p.R150C,C6:NM_001115131:exon5:c.C448T:p.R150C	C6 deficiency;Combined C6/C7 deficiency (3)	.	.	.	.	.	.	.	.	.	.	1942060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.926	0.0942881544234	.	.	8.257e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs751612775	2.19e-05	2.189e-05	2.179e-05	2.201e-05	8.963e-05	1.585e-05	1.356e-05	2.375e-05	1.258e-05	8.963e-05	4.475e-05	0	0	0	0	2.069e-05	3.312e-05	2.319e-05	1.973e-05	1.97e-05	0	4.04e-05	6.558e-05	5.25e-06	2.46e-06	.	.	2.416e-05	0	6.558e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.047737	1	0.81001	D	2.325	0.66631	M	-3.92	0.96078	D	-5.94	0.89093	D	0.861	0.85766	1.097	0.99542	D	0.955	0.98531	D	10	0.95445716	0.94799	D	0.094288	0.76225	D	0.926	0.98192	.	.	0.973791122316	0.97351	0.8277734939149792	0.82735	0.292977666792	0.31721	0.494802981615	0.38105	T	0.773646	0.93962	D	0.365842	0.87692	D	0.384584	0.91592	D	0.998411297798157	0.94084	D	0.971503	0.89686	D	0.7736549	0.82267	0.56748873	0.74962	0.7736549	0.82269	0.56748873	0.74963	-11.824	0.83983	D	.	.	0.509	0.65924	A	.;.	.;.	5.230833	0.87800	29.4	0.99942916824614514	0.99848	0.96142	0.67725	D	AEFI	0.957165	0.97618	D	1.00465671893171	0.95886	14.06861	0.920937720147574	0.96422	14.67737	0.999625671172311	0.41093	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	6.001000	0.70352	5.184000	0.47874	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.494	0.90806	480	0.77422	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2010.06	36	chr5	41195931	.	G	A	2010.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.572;DP=287;ExcessHet=0.4139;FS=4.324;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.392;SOR=0.415	GT:AD:DP:GQ:PL	0/1:38,37:75:99:926,0,1060	4	0	2	0
chr5	43700219	43700219	A	G	exonic	NNT	.	nonsynonymous SNV	NNT:NM_001331026:exon19:c.A2584G:p.I862V,NNT:NM_012343:exon20:c.A2977G:p.I993V,NNT:NM_182977:exon20:c.A2977G:p.I993V	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, Autosomal recessive	9	1462	50	1	0	52	0.0174731	.	.	.	691869	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.691	.	0.0043	0.0131789	0.0092	0.0031	0.0053	0.0246	0.0107	0.0064	0.0187	0.0176	0.0086998	1345	154602	rs78818665	0.0067	0.0067	0.0061	0.0072	0.0211	0.0065	0.0065	0.0199	0.0194	0.0034	0.0047	0.0193	0.0211	0.0113	0.0149	0.0046	0.0088	0.0201	0.0071	0.0071	0.0063	0.0079	0.0260	0.0068	0.0066	0.0225	0.0211	0.0031	0.0296	0.0062	0.0240	0.0260	0.0134	0.0102	0.0051	0.0099	0.0211	0.03	0.45393	D	0.05	0.49120	T	0.804	0.45171	P	0.688	0.53700	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.64	0.77224	M	-3.03	0.92307	D	-0.93	0.25551	N	0.395	0.45047	0.465	0.90045	D	0.682	0.89011	D	10	0.0123851	0.00266	T	.	.	.	0.691	0.88773	.	.	0.792272893702	0.79034	0.6103406890579464	0.60966	0.826633399761	0.67434	0.774488687515	0.78097	T	0.560351	0.85272	D	-0.119967	0.33130	T	0.077211	0.75392	D	0.0275404039287166	0.01622	T	0.992176	0.97522	D	0.41718677	0.61904	0.34197587	0.59930	0.4848643	0.66195	0.34197587	0.59929	-8.935	0.67277	D	.	.	0.156	0.34602	B	.;.;.	.;.;.	3.783900	0.54419	23.5	0.99785942847366804	0.87219	0.98056	0.79226	D	AEFGBI	0.868294	0.78837	D	0.619765950109536	0.74426	6.130708	0.654996669094691	0.78981	6.987416	0.999999998687651	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.001000	0.76051	11.275000	0.91537	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.059	0.80632	334	0.86273	NADP transhydrogenase beta-like domain;NADP transhydrogenase beta-like domain;NADP transhydrogenase beta-like 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	0.014602	0.015152	0.014946	0.008772	0.000000	0.000000	0.024390	0.022727	0.1667	1701.06	33	chr5	43700219	.	A	G	1701.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.519;DP=294;ExcessHet=0.4139;FS=0.612;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.132;SOR=0.609	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1140,0,934	4	0	2	0
chr5	52893732	52893732	A	C	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon9:c.A982C:p.K328Q	.	438	1053	29	2	0	33	0.0154278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	.	0.0014	0.00159744	0.0033	0.0002	0.0007	0.0002	0	0.0022	0.0033	0.0147	0.002859	442	154602	rs150009527	0.0020	0.0020	0.0015	0.0025	0.0149	0.0019	0.0019	0.0142	0.0139	0.0001	0.0004	0.0292	2.524e-05	0	0.0066	0.0005	0.0035	0.0149	0.0015	0.0015	0.0013	0.0017	0.0114	0.0013	0.0013	0.0090	0.0081	0.0003	0	0.0005	0.0291	0.0004	0	0	0.0006	0.0028	0.0114	0.086	0.32610	T	0.213	0.26467	T	0.116	0.26475	B	0.167	0.35118	B	0.000071	0.52346	D	0.168708	0.997134	0.43655	D	0.845	0.21182	L	-1.72	0.83241	D	-2.82	0.59545	D	0.186	0.20262	-0.4076	0.71787	T	0.403	0.75388	T	10	0.008489013	0.00192	T	.	.	.	0.277	0.59375	.	.	0.814982974235	0.81323	0.7904183510822229	0.78993	0.181561313923	0.20410	0.363239347935	0.19856	T	0.493714	0.81715	T	-0.419428	0.01725	T	-0.362282	0.37787	T	0.0276256007752138	0.01633	T	0.889211	0.62120	D	0.71762663	0.79030	0.43571326	0.67048	0.71762663	0.79031	0.43571326	0.67048	-9.296	0.69582	D	.	.	0.121	0.25034	B	.	.	3.379304	0.46730	22.3	0.98850089377460615	0.47271	0.88584	0.48580	D	AEBI	0.654059	0.62687	D	-0.108549905968052	0.37020	2.147875	0.052388413383367	0.42188	2.547394	0.999813034824553	0.43459	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.550183	0.17644	0	.	.	5.7	4.53	0.55009	2.859000	0.48063	6.987000	0.57147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.866:0.134:0.0:0.0	13.075	0.58496	715	0.56137	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.014620	0.000000	0.008621	0.009146	0.007576	0.08333	1158.83	36	chr5	52893732	.	A	C	1158.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.728;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=1.32;SOR=0.788	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1169,0,760	5	0	1	0
chr5	78780596	78780596	G	T	exonic	ARSB	.	nonsynonymous SNV	ARSB:NM_000046:exon8:c.C1403A:p.P468Q	Mucopolysaccharidosis type VI (Maroteaux-Lamy), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.113633246831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.364	0.16766	T	0.162	0.28404	B	0.15	0.34161	B	0.000218	0.47681	D	0.185274	0.953801	0.37847	D	2.76	0.80626	M	-2.97	0.92007	D	-2.59	0.55821	D	0.214	0.23884	0.376	0.88729	D	0.732	0.90848	D	10	0.3390531	0.50999	T	0.113633	0.79221	D	0.420	0.72930	0.421	0.46365	0.956889698939	0.95643	0.6995164962257864	0.69892	0.633908041635	0.57265	0.288628697395	0.08723	T	0.611715	0.87704	D	0.113151	0.65676	D	-0.0752435	0.65249	T	0.980016946792603	0.73133	D	0.742326	0.36163	T	0.24435365	0.47383	0.14900166	0.35198	0.24435365	0.47383	0.14900166	0.35198	-4.229	0.27169	T	.	.	0.079	0.07365	B	.	.	3.160174	0.42816	21.6	0.99178207198095691	0.54585	0.86735	0.46080	D	AEFBCI	0.572324	0.57595	D	0.103827565436149	0.46642	2.901363	0.203802645611576	0.50058	3.201897	0.999999276336234	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.58	4.71	0.59010	5.447000	0.66352	4.349000	0.43081	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.075:0.0:0.925:0.0	13.460	0.60675	814	0.42100	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	133.83	37	chr5	78780596	.	G	T	133.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.654;DP=267;ExcessHet=0;FS=41.656;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=1.36;SOR=5.728	GT:AD:DP:GQ:PL	0/1:58,19:77:99:144,0,1506	5	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	42.7	35	chr5	79044510	.	T	C	42.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.123;DP=311;ExcessHet=0;FS=19.731;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=0.671;SOR=4.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,9:73:52:0|1:79044510_T_C:52,0,2400:79044510	4	0	1	1
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	41.83	35	chr5	79044511	.	G	A	41.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.082;DP=299;ExcessHet=0;FS=19.731;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=0.613;SOR=4.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,9:73:52:0|1:79044510_T_C:52,0,2400:79044510	5	0	1	0
chr5	90518934	90518934	T	C	exonic	LYSMD3	.	nonsynonymous SNV	LYSMD3:NM_198273:exon3:c.A806G:p.Q269R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0104990336179	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271299580	1.368e-06	1.368e-06	2.723e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.561	0.09083	T	0.047	0.21998	B	0.036	0.22909	B	0.039045	0.24214	N	0.416680	0.531183	0.81001	D	1.935	0.51832	L	1.89	0.23688	T	-0.59	0.17624	N	0.12	0.11054	-0.6921	0.60810	T	0.155	0.48687	T	10	0.06851506	0.09701	T	0.010499	0.27109	T	0.050	0.13987	0.073	0.00466	0.206203607746	0.20212	0.24550719312082847	0.24464	0.148680584697	0.16773	0.27767598629	0.07171	T	0.010163	0.09205	T	-0.181219	0.23555	T	-0.498085	0.22546	T	0.245223089820354	0.22658	T	0.587441	0.21491	T	0.10373464	0.24519	0.17456894	0.39862	0.10373464	0.24519	0.17456894	0.39861	-3.795	0.20730	T	.	.	0.080	0.07985	B	.	.	2.211200	0.28211	17.72	0.99747995668306477	0.84002	0.77623	0.38187	D	ALL	0.559680	0.56839	D	0.0823258051236295	0.45639	2.817109	0.223739257658103	0.51167	3.301689	0.999999999995705	0.74766	0.730579	0.87903	0	0.723133	0.82719	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.84	5.84	0.93373	1.795000	0.38418	2.408000	0.32627	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:0.0:0.0:1.0	15.394	0.74498	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1374.83	49	chr5	90518934	.	T	C	1374.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.922;DP=347;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.793;SOR=0.624	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1385,0,1495	5	0	1	0
chr5	90728846	90728846	G	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon49:c.G10339A:p.E3447K	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	1	1500	21	0	0	21	0.00695134	.	.	.	55412	ADGRV1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.140	.	.	0.00159744	0.0015	0.0001	8.667e-05	0	0	6.001e-05	0	0.0108	0.0012742	197	154602	rs397517419	0.0007	0.0007	0.0004	0.0010	0.0110	0.0007	0.0006	0.0104	0.0101	0	0	0	0	0	0.0016	1.799e-05	0.0007	0.0110	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	5.881e-05	0.0005	0.0110	0.02	0.49613	D	0.047	0.48855	D	0.956	0.54666	P	0.549	0.49194	P	0.000451	0.44317	D	0.262127	0.980157	0.39637	D	.	.	.	1.7	0.26885	T	-1.58	0.38151	N	0.374	0.41557	-1.0382	0.17863	T	0.097	0.36445	T	10	0.0059939027	0.00134	T	.	.	.	0.140	0.37593	0.424	0.46857	0.526437037968	0.52289	0.3945631350013343	0.39371	0.0526002769708	0.05794	0.349464476109	0.17843	T	0.108228	0.42109	T	-0.389732	0.02701	T	-0.323204	0.42221	T	0.0352824290309916	0.02857	T	0.787321	0.42620	T	0.19309202	0.41005	0.1755088	0.40021	0.20817097	0.43045	0.22336018	0.47211	-6.602	0.51068	T	.	.	0.119	0.24430	B	.;.	.;.	3.287277	0.45070	22.1	0.99695669721693359	0.80248	0.89116	0.49390	D	AEFBI	0.273463	0.38886	N	0.093646590627086	0.46167	2.861257	0.0799428086623799	0.43540	2.653727	0.360329683292196	0.19771	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	2.785000	0.47470	7.562000	0.60503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.176000	0.21171	0.0:0.13:0.87:0.0	16.590	0.84614	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.022727	0.08333	2886.83	33	chr5	90728846	.	G	A	2886.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.977;DP=410;ExcessHet=0;FS=2.991;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.245;SOR=0.892	GT:AD:DP:GQ:PL	0/1:125,114:239:99:2897,0,3107	5	0	1	0
chr5	95414041	95414041	G	C	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon4:c.G388C:p.E130Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00650525635296	.	0.000199681	8.284e-06	0	8.673e-05	0	0	0	0	0	1.29e-05	2	154602	rs533288754	9.577e-06	9.577e-06	8.167e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	1.78e-05	8.93e-06	2.987e-05	6.711e-05	0	0	0	0.0002	6.295e-06	3.311e-05	0	6.571e-06	6.563e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.56456	D	0.02	0.58613	D	.	.	.	.	.	.	0.004031	0.34196	N	0.311070	0.999312	0.21372	N	.	.	.	1.9	0.23486	T	-1.92	0.44657	N	0.195	0.21449	-0.9925	0.31959	T	0.071	0.29066	T	10	0.09542501	0.17043	T	0.006505	0.17129	T	0.085	0.24743	0.392	0.41606	0.376039117802	0.37211	0.23900577758242494	0.23814	0.195479972318	0.21887	0.376467168331	0.21755	T	.	.	.	-0.264148	0.12417	T	-0.44136	0.28656	T	0.246596843004227	0.22720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.31507	B	.	.	2.609998	0.33897	19.47	0.98834100264384017	0.47002	0.69274	0.34123	D	AEFGBI	0.147938	0.27171	N	-0.141746193183218	0.35588	2.045971	-0.124249864945333	0.34415	1.97935	0.754768018252683	0.23416	0.500041	0.20204	0	0.624306	0.53593	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	4.66	0.57857	1.642000	0.36823	6.623000	0.56126	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.868000	0.41282	0.0791:0.1514:0.7695:0.0	8.921	0.34772	646	0.63441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1597.83	86	chr5	95414041	.	G	C	1597.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.12;DP=503;ExcessHet=0;FS=10.468;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-0.221;SOR=0.579	GT:AD:DP:GQ:PL	0/1:107,69:176:99:1608,0,2791	5	0	1	0
chr5	95414053	95414053	C	T	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon4:c.C400T:p.R134C	.	434	1074	14	0	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	.	0.0068	0.00439297	0.0050	0.0014	0.0031	0	0.0017	0.0068	0.0078	0.0050	0.0049741	769	154602	rs76962324	0.0067	0.0067	0.0066	0.0067	0.0173	0.0065	0.0065	0.0146	0.0136	0.0016	0.0040	0.0050	5.038e-05	0.0021	0.0173	0.0074	0.0068	0.0055	0.0049	0.0049	0.0049	0.0048	0.0078	0.0046	0.0045	0.0072	0.0070	0.0015	0	0.0046	0.0035	0	0.0021	0.0238	0.0078	0.0080	0.0041	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000039	0.55875	D	0.085547	0.997046	0.43591	D	.	.	.	1.94	0.22678	T	-5.39	0.85027	D	0.658	0.66787	-0.9516	0.40695	T	0.106	0.38587	T	10	0.010783225	0.00239	T	.	.	.	0.253	0.56294	.	.	0.307648195649	0.30373	0.47366088601789136	0.47285	0.530407751899	0.50578	0.376723438501	0.21792	T	.	.	.	-0.339863	0.05397	T	-0.257101	0.49114	T	0.0388660275550963	0.03486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.33016	B	.	.	5.268109	0.88451	29.6	0.99939570940083844	0.99734	0.80067	0.39806	D	AEFGBI	0.459933	0.51033	N	0.717791549098515	0.80798	7.374928	0.684031709257305	0.81166	7.463709	0.938823137378373	0.27360	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	1.640000	0.36801	4.887000	0.45725	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.1589:0.8411:0.0:0.0	13.251	0.59479	646	0.63441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.005051	0.016304	0.032164	0.000000	0.025862	0.015244	0.011364	0.08333	1620.83	86	chr5	95414053	.	C	T	1620.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=506;ExcessHet=0;FS=10.481;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.875;SOR=0.752	GT:AD:DP:GQ:PL	0/1:109,68:177:99:1631,0,2707	5	0	1	0
chr5	96785792	96785792	C	T	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon13:c.G1939A:p.V647I,ERAP1:NM_001198541:exon13:c.G1939A:p.V647I,ERAP1:NM_001349244:exon13:c.G1939A:p.V647I,ERAP1:NM_016442:exon13:c.G1939A:p.V647I	.	427	1045	47	3	0	53	0.0247317	.	.	.	2827895	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.276	.	0.0018	0.00159744	0.0034	0.0007	0.0029	0	0.0002	0.0020	0.0078	0.0137	0.0030724	475	154602	rs111363347	0.0026	0.0026	0.0022	0.0030	0.0243	0.0026	0.0025	0.0210	0.0198	0.0004	0.0020	0.0022	7.558e-05	0.0001	0.0243	0.0018	0.0033	0.0149	0.0016	0.0016	0.0016	0.0017	0.0101	0.0015	0.0014	0.0079	0.0071	0.0002	0	0.0027	0.0014	0.0002	0	0.0204	0.0018	0.0057	0.0101	0.034	0.44029	D	0.028	0.54934	D	0.993	0.66517	D	0.955	0.72923	D	0.000200	0.48115	D	0.179513	0.999999	0.58761	D	2.885	0.83555	M	3.32	0.06214	T	-0.75	0.21003	N	0.322	0.36359	-1.1379	0.01439	T	0.076	0.30429	T	10	0.0092540085	0.00209	T	.	.	.	0.276	0.59253	.	.	0.416956310301	0.41315	0.6255793439771128	0.62490	0.348272605842	0.36702	0.387608021498	0.23332	T	0.061309	0.31620	T	-0.423924	0.01615	T	-0.370037	0.36884	T	0.0450658334183876	0.04613	T	0.975602	0.91418	D	0.5307451	0.68873	0.57157373	0.75189	0.5307451	0.68874	0.57157373	0.75190	-8.234	0.62654	D	.	.	0.173	0.40376	B	.;.	.;.	4.297696	0.65597	24.9	0.99856502613431009	0.93548	0.95510	0.65007	D	AEFGBCI	0.785201	0.71565	D	0.744243113532959	0.82529	7.785265	0.682845202672003	0.81076	7.443103	0.999999999999986	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.77	5.77	0.91077	7.537000	0.80946	7.718000	0.67175	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.512000	0.29290	0.0:1.0:0.0:0.0	19.593	0.95520	893	0.26510	.;ERAP1-like 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	0	0	1	0	0.017120	0.015152	0.020380	0.020468	0.050000	0.034483	0.006098	0.015152	0.08333	1609.83	65	chr5	96785792	.	C	T	1609.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.527;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.156;SOR=0.627	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1620,0,1750	5	0	1	0
chr5	100856145	100856145	C	T	exonic	ST8SIA4	.	nonsynonymous SNV	ST8SIA4:NM_005668:exon4:c.G755A:p.R252Q	.	.	.	.	.	.	.	.	.	.	.	2355467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.0186066949194	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs781048508	2.258e-05	2.257e-05	2.042e-05	2.475e-05	0.0002	1.61e-05	1.416e-05	8.887e-05	7.054e-05	0	0	0	0	0	0	1.709e-05	1.656e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.006	0.61437	D	0.151	0.32355	T	0.195	0.29512	B	0.105	0.31087	B	0.000103	0.50451	N	0.078508	0.999985	0.54805	D	0.885	0.21608	L	1.58	0.29085	T	-0.57	0.17210	N	0.301	0.34012	-1.0949	0.04766	T	0.065	0.26948	T	10	0.13723817	0.26107	T	0.018607	0.40730	T	0.152	0.39956	0.599	0.72984	0.082315109003	0.07666	0.9035250074962626	0.90325	0.594624967329	0.54773	0.689371645451	0.65616	T	0.128226	0.45575	T	-0.239793	0.15375	T	-0.379569	0.35774	T	0.197557049205132	0.20281	T	0.928807	0.73814	D	0.1444946	0.33165	0.10617818	0.25540	0.1444946	0.33165	0.10617818	0.25539	-4.676	0.33112	T	.	.	0.075	0.05623	B	.	.	3.162719	0.42862	21.6	0.99948285012871207	0.99923	0.96615	0.70031	D	AEFDGBIJ	0.805032	0.72973	D	-0.188802917842513	0.33600	1.908056	-0.0815197045877418	0.36153	2.100457	0.999999999988326	0.74766	0.706548	0.73137	0	0.819298	0.99779	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.935000	0.69862	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.924:0.0:0.076	13.282	0.59655	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1122.83	34	chr5	100856145	.	C	T	1122.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.821;DP=272;ExcessHet=0;FS=8.235;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.137;SOR=0.246	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1133,0,1497	5	0	1	0
chr5	135008023	135008023	C	T	exonic	CATSPER3	.	nonsynonymous SNV	CATSPER3:NM_178019:exon4:c.C559T:p.L187F	.	.	.	.	.	.	.	.	.	.	.	2286555	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.611	0.0863270661375	.	.	2.473e-05	0	0	0	0	3.001e-05	0	6.056e-05	1.94e-05	3	154602	rs753293924	1.847e-05	1.847e-05	1.634e-05	2.063e-05	2.236e-05	1.265e-05	1.084e-05	1.175e-05	9.55e-06	0	2.236e-05	0	0	3.744e-05	0	1.799e-05	4.967e-05	1.159e-05	2.625e-05	2.624e-05	1.284e-05	4.027e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.11	0.29158	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000452	0.44317	D	0.000000	0.870148	0.35547	D	1.545	0.39105	L	-5.07	0.98648	D	-1.94	0.45042	N	0.575	0.59732	1.045	0.98012	D	0.939	0.98003	D	9	0.82146454	0.81349	D	0.086327	0.74714	D	0.611	0.84773	0.67	0.80803	0.955733713596	0.95526	0.7729936959233854	0.77249	0.525726381439	0.50218	0.559997797012	0.47268	T	0.484227	0.81163	T	0.107166	0.65057	D	0.0238173	0.71877	D	0.526333868503571	0.33599	D	0.782822	0.41925	T	0.15862724	0.35678	0.15584928	0.36514	0.15862724	0.35677	0.15584928	0.36513	-2.2	0.04040	T	.	.	0.269	0.50343	B	.	.	3.400380	0.47126	22.4	0.99843620216869244	0.92403	0.62936	0.31934	D	AEFI	0.152848	0.27761	N	0.359591275436926	0.59249	4.102668	0.322177306058753	0.56846	3.848591	0.00632638964302274	0.11188	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.43	4.43	0.52967	1.119000	0.30872	.	.	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.960000	0.51673	0.0:0.8962:0.0:0.1038	9.103	0.35839	791	0.46100	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	5307.06	142	chr5	135008023	.	C	T	5307.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.157;DP=778;ExcessHet=0.4139;FS=8.391;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.414;SOR=0.351	GT:AD:DP:GQ:PL	0/1:114,121:235:99:2954,0,2942	4	0	2	0
chr5	141201261	141201261	T	C	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.T1487C:p.L496P	.	308	1201	13	0	0	13	0.00538302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0209242374983	.	.	9.064e-05	9.63e-05	8.637e-05	0	0	0.0001	0	0	1.94e-05	3	154602	rs377311561	0.0001	0.0002	0.0001	0.0001	0.0004	0.0001	9.914e-05	0.0001	0.0001	2.994e-05	6.713e-05	0	2.519e-05	0	0.0004	0.0001	9.956e-05	1.16e-05	0.0002	0.0017	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0	0	0.0035	0.0002	0	0	1.0	0.00964	T	0.869	0.18018	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-0.43	0.02865	N	4.64	0.01799	T	7.16	0.00003	N	0.045	0.01740	-0.9080	0.47097	T	0.003	0.00897	T	9	0.029480934	0.01074	T	0.020924	0.43616	T	0.039	0.10176	0.409	0.44395	0.0716867268079	0.06686	0.12223043496115316	0.12150	0.3628179241	0.37928	0.41848295927	0.27628	T	0.00543	0.04881	T	-0.575806	0.00204	T	-0.795582	0.02015	T	0.050601392995515	0.05605	T	0.0241976	0.00179	T	0.033085153	0.03459	0.054963145	0.09554	0.033085153	0.03458	0.054963145	0.09554	0.83	0.00155	T	.	.	0.039	0.00017	B	.;.	.;.	0.219071	0.06016	2.458	0.033756353656318606	0.00000	0.00365	0.01864	N	AEFDBI	0.047579	0.08025	N	-2.10250754910901	0.00127	0.005417057	-2.11845561951991	0.00170	0.007473022	0.00218433667622579	0.09217	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.3	-1.34	0.08665	-0.097000	0.11010	.	.	-3.265000	0.00102	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.2543:0.2255:0.193:0.3272	0.087	0.00033	664	0.61548	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	0.008457	0.030303	0.002717	0.008197	0.000000	0.000000	0.009146	0.000000	0.08333	50.83	33	chr5	141201261	.	T	C	50.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.421;DP=824;ExcessHet=0;FS=22.753;MLEAC=1;MLEAF=0.083;MQ=58.66;MQRankSum=-15.27;QD=0.2;ReadPosRankSum=-3.544;SOR=2.155	GT:AD:DP:GQ:PL	0/1:239,21:260:61:61,0,9762	5	0	1	0
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1385.96	33	chr5	141303079	.	C	T	1385.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.635;DP=802;ExcessHet=3.1439;FS=217.575;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.14;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,29:136:99:0|1:141303079_C_T:167,0,2712:141303079	4	0	2	0
chr5	141423488	141423488	A	G	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.A2261G:p.Y754C,PCDHGA11:NM_032091:exon1:c.A2261G:p.Y754C	.	8	1505	8	1	0	10	0.00331126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0404247355776	0.0013	0.000599042	0.0011	0.0001	0.0007	0	0	0.0016	0.0011	0.0009	0.0010026	155	154602	rs141810253	0.0009	0.0009	0.0008	0.0010	0.0026	0.0009	0.0009	0.0016	0.0013	0.0003	0.0009	0.0050	0	1.874e-05	0.0026	0.0008	0.0015	0.0012	0.0010	0.0010	0.0009	0.0010	0.0013	0.0008	0.0008	0.0011	0.0010	0.0002	0	0.0007	0.0069	0	0	0.0102	0.0013	0.0038	0.0004	0.002	0.72154	D	0.0	0.92824	D	0.981	0.59675	D	0.791	0.57754	P	0.019513	0.27241	U	0.000000	1	0.81001	D	3.76	0.95097	H	0.7	0.51474	T	-8.51	0.97315	D	0.834	0.85766	0.017	0.82604	D	0.367	0.72735	T	10	0.094323754	0.16761	T	0.040425	0.59370	D	0.393	0.70844	.	.	0.851771965924	0.85034	0.3474161531975805	0.34655	1.20556773718	0.80698	.	.	.	0.099095	0.40356	T	-0.0386398	0.46150	T	0.136342	0.79306	D	0.147820850932256	0.16929	T	0.908709	0.67605	D	0.5291894	0.68784	0.6857102	0.81520	0.5291894	0.68785	0.6857102	0.81520	-9.22	0.72285	D	.	.	0.201	0.42491	B	.;.	.;.	4.867989	0.79722	27.2	0.99767028561535975	0.85583	0.95293	0.64160	D	AEFDBI	0.730648	0.67797	D	0.740963173741726	0.82315	7.732451	0.672539657845025	0.80300	7.268168	0.999999836208215	0.74766	0.609539	0.35627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.63947	0.58350	0	.	.	5.2	5.2	0.71720	3.614000	0.53901	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	1.0:0.0:0.0:0.0	15.044	0.71480	819	0.41190	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.003788	0.1667	5831.06	34	chr5	141423488	.	A	G	5831.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.36;DP=666;ExcessHet=0.4139;FS=0.518;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.709;SOR=0.745	GT:AD:DP:GQ:PL	0/1:96,105:201:99:2813,0,2585	4	0	2	0
chr5	148095825	148095825	C	T	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon10:c.C802T:p.R268C,SPINK5:NM_001127699:exon10:c.C802T:p.R268C,SPINK5:NM_006846:exon10:c.C802T:p.R268C	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	27	1458	31	6	0	43	0.0145319	.	.	.	297720	not_provided|Netherton_syndrome|Susceptibility_to_nonsyndromic_otitis_media|Ichthyosis_linearis_circumflexa|SPINK5-related_disorder	MedGen:C3661900|MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634|.|Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.176	.	0.0066	0.00658946	0.0065	0.0013	0.0039	0.0001	0.0035	0.0079	0.0112	0.0101	0.006714	1038	154602	rs142558269	0.0087	0.0087	0.0087	0.0087	0.0105	0.0086	0.0085	0.0100	0.0097	0.0017	0.0046	0.0147	7.572e-05	0.0032	0.0089	0.0093	0.0091	0.0105	0.0059	0.0059	0.0061	0.0057	0.0094	0.0056	0.0055	0.0082	0.0080	0.0015	0	0.0062	0.0133	0	0.0032	0	0.0088	0.0076	0.0094	0.002	0.72154	D	0.011	0.67890	D	0.999	0.77913	D	0.84	0.63994	P	0.457645	0.04850	N	1.411360	1	0.08975	N	2.135	0.59519	M	3.22	0.07024	T	-1.0	0.34596	N	0.229	0.29081	-1.0069	0.27881	T	0.037	0.16073	T	10	0.010680467	0.00237	T	.	.	.	0.176	0.44373	.	.	0.387529464389	0.38369	0.41044028393339194	0.40960	0.508721426473	0.49020	0.264859616756	0.05483	T	0.190079	0.54450	T	-0.478885	0.00751	T	-0.451266	0.27559	T	0.0166026273520082	0.00421	T	0.872413	0.58094	D	0.44952396	0.64011	0.23519337	0.48756	0.37980315	0.59302	0.23519337	0.48755	-9.877	0.73172	D	0.20916742614886388	0.27994	0.172	0.43476	B	.;.;.;.	.;.;.;.	3.671994	0.52224	23.2	0.99857554378171398	0.93639	0.21134	0.21293	N	AEFBI	0.098471	0.19841	N	-0.0612750867355711	0.39100	2.300454	-0.243013744255273	0.30013	1.686233	0.973580626111447	0.29468	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.82	3.82	0.43153	1.044000	0.29939	2.039000	0.30291	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.277000	0.23942	0.0:1.0:0.0:0.0	11.519	0.49792	838	0.37812	.;.;Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal 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	1	0	0.014141	0.005102	0.017663	0.002941	0.000000	0.025862	0.024540	0.007576	0.1667	1439.06	47	chr5	148095825	.	C	T	1439.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.524;DP=295;ExcessHet=0.4139;FS=1.462;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.533;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,40:65:99:1|0:148095823_A_G:888,0,910:148095823	4	0	2	0
chr5	149259544	149259544	A	G	splicing	ABLIM3	NM_001301028:exon19:c.1606-2A>G	.	.	.	423	1063	33	3	0	39	0.0180139	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0129	0	0.0160	0	0.0006	0.0052	0.0055	0.0210	0.0016494	255	154602	rs534581717	0.0032	0.0031	0.0026	0.0039	0.0233	0.0032	0.0031	0.0224	0.0221	0.0002	0.0030	0.0096	2.798e-05	0.0005	0.0074	0.0018	0.0044	0.0233	0.0023	0.0023	0.0020	0.0027	0.0214	0.0021	0.0020	0.0180	0.0168	0.0002	0	0.0025	0.0072	0	9.418e-05	0.0068	0.0024	0.0057	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.840044	0.00003	T	-0.962521	0.00225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.095399	0.03670	0.738	0.27858813484829209	0.01403	0.00144	0.00877	N	AEFBI	.	.	.	-1.47130147512055	0.02055	0.09032965	-1.69724869164619	0.01149	0.05170863	0.999982787927218	0.51787	0.218109	0.04136	0	0.059962	0.00310	0	0.078618	0.02440	0	0.357269	0.05819	0	0.103113	0.22672	4.67	-8.31	0.00877	-2.807000	0.00827	-0.339000	0.09830	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3957:0.2122:0.2942:0.098	2.437	0.04212	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1436.06	34	chr5	149259544	.	A	G	1436.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.439;DP=277;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.148;SOR=0.653	GT:AD:DP:GQ:PL	0/1:42,32:74:99:676,0,1177	4	0	2	0
chr5	150047729	150047729	G	C	exonic	HMGXB3	.	nonsynonymous SNV	HMGXB3:NM_001366501:exon16:c.G2558C:p.G853A,HMGXB3:NM_014983:exon17:c.G3056C:p.G1019A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00709926556252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419717917	7.146e-07	6.84e-07	0	1.449e-06	1.262e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.37	0.16473	T	0.056	0.22806	B	0.028	0.21332	B	0.138964	0.18359	N	0.607663	1	0.08975	N	1.445	0.36358	L	.	.	.	-2.15	0.48687	N	0.215	0.24010	-1.0313	0.20034	T	0.073	0.29451	T	9	0.081051975	0.13226	T	0.007099	0.18814	T	0.079	0.23065	0.489	0.57415	0.0138822411134	0.00435	0.5381383291047536	0.53738	.	.	0.248992621899	0.03662	T	0.005008	0.20205	T	-0.26737	0.12052	T	-0.494056	0.22968	T	0.0262487452349716	0.01440	T	0.813719	0.46699	T	0.02448798	0.01285	0.04915418	0.07453	0.02448798	0.01285	0.04915418	0.07453	.	.	.	.	.	0.142	0.31228	B	.;.;.	.;.;.	0.932570	0.13078	9.582	0.51991479633356563	0.04664	0.25080	0.22591	N	AEFBI	0.111924	0.22142	N	-0.871613846597025	0.11521	0.5564523	-0.926924854048685	0.11460	0.5839383	0.988684120753873	0.31595	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	-0.567	0.11175	0.344000	0.19703	0.194000	0.15776	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.244000	0.23106	0.3378:0.1188:0.5435:0.0	6.258	0.20091	670	0.60992	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3006.06	35	chr5	150047729	.	G	C	3006.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.87;DP=403;ExcessHet=0.4139;FS=1.531;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.731;SOR=0.643	GT:AD:DP:GQ:PL	0/1:66,69:135:99:1724,0,1693	4	0	2	0
chr5	150298468	150298468	G	T	exonic	ARSI	.	nonsynonymous SNV	ARSI:NM_001012301:exon2:c.C456A:p.F152L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.714	0.205618670655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.44694	T	0.051	0.55759	T	0.237	0.30795	B	0.14	0.33554	B	0.000000	0.84330	D	0.000000	0.999929	0.51308	D	1.545	0.39105	L	-4.97	0.98468	D	-3.77	0.71397	D	0.843	0.86191	0.630	0.92288	D	0.877	0.95921	D	10	0.88748795	0.88080	D	0.205619	0.86995	D	0.714	0.89831	0.794	0.91511	0.884139936889	0.88300	0.926654299910491	0.92643	0.699425841073	0.61035	0.814115524292	0.84124	D	0.84243	0.96338	D	0.365883	0.87697	D	0.287789	0.87539	D	0.979547441005707	0.72886	D	0.912209	0.68816	D	0.39090672	0.60096	0.3636952	0.61751	0.39090672	0.60097	0.3636952	0.61751	-7.191	0.55416	T	.	.	0.992	0.94382	P	.;.;.	.;.;.	3.329107	0.45818	22.2	0.99505786569190302	0.68322	0.93634	0.58756	D	AEFBI	0.634753	0.61451	D	-0.0796647352496171	0.38284	2.239974	-0.0117018080072553	0.39186	2.31958	0.99993046428096	0.46732	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.58	2.33	0.27981	3.658000	0.54221	2.929000	0.35606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2231:0.0:0.7769:0.0	8.821	0.34182	814	0.42100	Sulfatase, N-terminal;.;Sulfatase, 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	.	.	.	.	.	.	.	.	0.08333	514.83	78	chr5	150298468	.	G	T	514.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.085;DP=538;ExcessHet=0;FS=134.316;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=2.98;SOR=7.614	GT:AD:DP:GQ:PL	0/1:141,44:185:99:525,0,3590	5	0	1	0
chr5	151507207	151507207	G	C	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon23:c.C12464G:p.S4155C	.	427	1073	21	1	0	23	0.010604	.	.	.	721325	FAT2-related_disorder|Spinocerebellar_ataxia_45|not_specified|not_provided	.|MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0583599827964	0.0003	.	0.0010	0	0.0005	0	0	0.0009	0	0.0035	0.0007956	123	154602	rs145466001	0.0005	0.0005	0.0004	0.0006	0.0036	0.0004	0.0004	0.0024	0.0022	2.989e-05	0.0006	0.0057	0	1.877e-05	0.0036	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	2.405e-05	0	0.0001	0.0058	0	0	0.0068	0.0003	0.0024	0.0014	0.407	0.10245	T	0.035	0.52389	D	0.979	0.59044	D	0.635	0.51908	P	0.006493	0.31997	N	0.220530	0.999862	0.50061	D	1.365	0.34158	L	-1.03	0.76430	T	-1.49	0.36385	N	0.485	0.51940	-0.2370	0.76704	T	0.453	0.78656	T	10	0.009769082	0.00220	T	0.05836	0.67292	D	0.334	0.65620	.	.	0.885439632602	0.88431	0.3802229436836575	0.37937	0.502997777248	0.48648	0.476963639259	0.35639	T	0.094933	0.39518	T	-0.302035	0.08469	T	-0.210307	0.53666	T	0.108110176004173	0.13227	T	0.756024	0.37907	T	0.14777388	0.33767	0.086507246	0.20045	0.14777388	0.33766	0.086507246	0.20045	-5.171	0.38646	T	.	.	0.097	0.15966	B	.	.	3.465181	0.48318	22.6	0.87594490723490837	0.17340	0.96518	0.69540	D	AEFDBCI	0.627449	0.60990	D	0.252113336460178	0.53742	3.541934	0.16496362234461	0.47940	3.016867	0.999999996729769	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.094000	0.76602	6.571000	0.55968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.133	0.81269	892	0.26670	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2191.06	75	chr5	151507207	.	G	C	2191.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.76;DP=417;ExcessHet=0.4139;FS=0.555;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.846;SOR=0.645	GT:AD:DP:GQ:PL	0/1:44,33:77:99:902,0,1195	4	0	2	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	40846.1	393	chr5	157052557	.	C	*	40846.1	.	AC=4;AF=0.333;AN=12;DP=2554;ExcessHet=1.383;FS=2.719;MLEAC=4;MLEAF=0.333;MQ=60;QD=17.49;SOR=0.518	GT:AD:DP:GQ:PL	0/1:270,180:450:99:6635,0,10693	2	0	4	0
chr5	157240068	157240068	C	A	exonic	ITK	.	nonsynonymous SNV	ITK:NM_005546:exon10:c.C858A:p.N286K	Lymphoproliferative syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2219922	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0191304644971	7.7e-05	.	8.282e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs141147698	5.482e-06	7.525e-06	4.092e-06	6.885e-06	0.0002	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.406e-06	0	1.16e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.009	0.14300	B	0.002054	0.37364	N	0.316256	0.528349	0.31511	N	-0.585	0.02270	N	-0.84	0.74265	T	0.26	0.04380	N	0.185	0.20129	-0.9059	0.47343	T	0.143	0.46495	T	10	0.09102014	0.15907	T	0.01913	0.41408	T	0.126	0.34673	0.391	0.41443	0.739841096875	0.73750	0.27600801011499004	0.27513	0.454560597318	0.45146	0.518731117249	0.41447	T	0.421771	0.77306	T	-0.209551	0.19442	T	-0.523296	0.19962	T	0.0447747082251897	0.04561	T	0.591441	0.21800	T	0.055436995	0.10775	0.0644764	0.12926	0.055436995	0.10774	0.0644764	0.12926	-2.523	0.05940	T	.	.	0.184	0.39848	B	.	.	1.533323	0.19672	14.38	0.90295446407805713	0.19563	0.73363	0.35887	D	AEFDBI	0.310081	0.41620	N	-0.754046955515498	0.14523	0.7241689	-0.522850641701846	0.21533	1.165339	0.99281697957076	0.32978	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	3.86	0.43689	0.555000	0.23129	1.178000	0.24674	-0.182000	0.10109	0.741000	0.29037	1.000000	0.68203	0.986000	0.61781	0.0:0.7871:0.0:0.2129	10.106	0.41706	437	0.80299	SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1139.83	35	chr5	157240068	.	C	A	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=304;ExcessHet=0;FS=1.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.216;SOR=0.537	GT:AD:DP:GQ:PL	0/1:71,49:120:99:1150,0,1807	5	0	1	0
chr5	157505714	157505714	G	A	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon11:c.C1085T:p.S362L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0389826151698	.	.	4.993e-05	0	0	0	0	1.513e-05	0	0.0003	3.88e-05	6	154602	rs766806071	2.121e-05	2.121e-05	1.497e-05	2.75e-05	0.0002	1.52e-05	1.324e-05	0.0002	0.0001	5.974e-05	2.236e-05	0	2.519e-05	0	0	5.396e-06	1.656e-05	0.0002	1.973e-05	1.97e-05	3.856e-05	0	6.55e-05	5.25e-06	2.46e-06	.	.	2.415e-05	0	6.55e-05	0	0	0	0	1.47e-05	0	0	0.235	0.18000	T	0.231	0.25061	T	0.031	0.20130	B	0.004	0.10090	B	0.253684	0.15456	N	0.614391	0.956252	0.26305	N	1.22	0.30592	L	-2.19	0.86815	D	-1.2	0.30555	N	0.283	0.32037	-0.6186	0.64047	T	0.421	0.76623	T	10	0.08437154	0.14135	T	0.038983	0.58547	D	0.069	0.20116	.	.	0.682685154404	0.67998	0.30539801415623785	0.30452	0.46062844297	0.45616	0.346953511238	0.17472	T	0.122557	0.44631	T	-0.233795	0.16149	T	-0.294172	0.45336	T	0.0918554812669754	0.11436	T	0.70113	0.34859	T	0.06181946	0.12843	0.07176784	0.15407	0.06181946	0.12843	0.07176784	0.15407	-5.297	0.39913	T	.	.	0.077	0.06387	B	.;.	.;.	1.943262	0.24685	16.49	0.98402458433019591	0.41084	0.20531	0.21075	N	AEFDGBI	0.113530	0.22396	N	-0.635122559849403	0.17896	0.9248222	-0.576051544081054	0.20118	1.082472	0.999995272855815	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.662433	0.64102	0	.	.	5.91	3.16	0.35406	0.664000	0.24749	2.685000	0.34045	0.676000	0.76740	0.059000	0.21734	0.998000	0.33993	0.880000	0.42090	0.127:0.1153:0.6382:0.1195	5.398	0.15581	825	0.40060	.;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-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	.	.	.	.	.	.	.	.	0.1667	2333.06	34	chr5	157505714	.	G	A	2333.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.25;DP=329;ExcessHet=0.4139;FS=1.885;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.39;SOR=0.864	GT:AD:DP:GQ:PL	0/1:41,45:86:99:1170,0,907	4	0	2	0
chr5	169684229	169684229	C	T	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon8:c.C640T:p.R214W	Immunodeficiency 40, Autosomal recessive	425	1064	31	2	0	35	0.0161812	.	.	.	709813	DOCK2_deficiency	MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.241	.	0.0008	0.00658946	0.0047	0.0007	0.0009	0.0007	0	0.0011	0.0022	0.0289	0.0041849	647	154602	rs150969388	0.0025	0.0025	0.0016	0.0033	0.0278	0.0024	0.0024	0.0269	0.0265	0.0004	0.0007	0.0015	0.0002	3.744e-05	0.0062	0.0008	0.0026	0.0278	0.0015	0.0015	0.0012	0.0018	0.0274	0.0013	0.0013	0.0236	0.0221	0.0004	0	0.0010	0.0003	0.0002	0	0	0.0009	0.0014	0.0274	0.01	0.56456	D	0.012	0.63918	D	1.0	0.90584	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999977	0.53665	D	2.585	0.75554	M	0.81	0.48460	T	-2.83	0.59710	D	0.792	0.78832	-0.5204	0.67899	T	0.285	0.65705	T	10	0.006866753	0.00156	T	.	.	.	0.241	0.54641	.	.	0.709050542064	0.70651	0.7137054953560904	0.71313	1.26435304804	0.82127	0.631664514542	0.57381	T	0.374971	0.73866	T	-0.101771	0.36132	T	0.102666	0.77084	D	0.0444213604335121	0.04497	T	0.929907	0.74113	D	0.2717499	0.50245	0.22089736	0.46881	0.3065954	0.53490	0.22946432	0.48018	-9.779	0.72577	D	.	.	0.316	0.54183	B	.;.	.;.	4.657162	0.74301	26.1	0.99897553318459253	0.97048	0.97898	0.77962	D	AEFGBI	0.810267	0.73355	D	0.674911561354119	0.77988	6.782021	0.658196086138679	0.79221	7.037089	0.999999999980755	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.43	5.43	0.79006	3.149000	0.50351	1.752000	0.28483	0.599000	0.40250	0.998000	0.41325	0.940000	0.28757	0.992000	0.67800	0.0:1.0:0.0:0.0	19.257	0.93936	842	0.36989	Dedicator of cytokinesis, N-terminal domain;Dedicator of cytokinesis, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.007576	0.08333	1250.83	34	chr5	169684229	.	C	T	1250.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.55;DP=270;ExcessHet=0;FS=4.05;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.461;SOR=1.204	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1261,0,962	5	0	1	0
chr5	178986908	178986908	G	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon8:c.C1430T:p.A477V	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1006076	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.0133204977475	7.7e-05	.	7.472e-05	0	0	0.0002	0	4.532e-05	0	0.0002	6.47e-05	10	154602	rs201164865	4.31e-05	4.309e-05	2.723e-05	5.913e-05	0.0010	3.443e-05	3.129e-05	0.0005	0.0003	2.987e-05	4.472e-05	0	0.0001	0	0.0010	1.709e-05	6.623e-05	0.0003	5.912e-05	5.909e-05	3.853e-05	8.066e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.412e-05	0	6.539e-05	0	0.0008	0	0	4.409e-05	0	0	0.502	0.07695	T	0.547	0.09522	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	0.999933	0.19363	N	-1.385	0.00624	N	-2.05	0.85799	D	0.27	0.04306	N	0.164	0.17278	-0.8778	0.49935	T	0.220	0.58240	T	9	0.027757764	0.00916	T	0.01332	0.32631	T	0.180	0.45073	.	.	0.611248696395	0.60812	0.3188133152572899	0.31794	0.101288994905	0.11461	0.434477329254	0.29821	T	0.101196	0.40773	T	-0.355646	0.04382	T	-0.39226	0.34286	T	0.0327337349698805	0.02427	T	0.835616	0.50622	T	0.070882484	0.15649	0.06926932	0.14574	0.070882484	0.15649	0.06926932	0.14574	-4.753	0.34039	T	0.10193952680562984	0.07691	0.077	0.06433	B	.;.;.	.;.;.	3.111813	0.41976	21.5	0.89629562092074255	0.18962	0.11881	0.16921	N	AEFDBI	0.084370	0.17098	N	-0.947212316521131	0.09755	0.4631016	-0.867568657420865	0.12866	0.6643043	4.09504598400641E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	0.2	0.14459	3.109000	0.50037	1.798000	0.28858	0.590000	0.31872	0.074000	0.22182	0.950000	0.28999	0.434000	0.27538	0.5573:0.0:0.4427:0.0	6.942	0.23678	729	0.54495	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.08333	1402.83	106	chr5	178986908	.	G	A	1402.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.237;DP=391;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.31;SOR=0.736	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1413,0,1957	5	0	1	0
chr6	21595021	21595032	GGGGGCGGCCAT	-	exonic	SOX4	.	nonframeshift deletion	SOX4:NM_003107:exon1:c.487_498del:p.H166_G169del	.	267	1249	4	2	0	8	0.00319234	.	.	.	2822740	not_provided|SOX4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0039	0.0019	0	0.0008	0	0.0059	0	0.0005	3.88e-05	6	154602	rs747523746	0.0058	0.0055	0.0059	0.0057	0.0069	0.0057	0.0056	0.0068	0.0067	0.0012	0.0015	0.0008	0.0014	0.0005	0.0030	0.0069	0.0039	0.0014	0.0034	0.0034	0.0037	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0012	0	0.0024	0.0006	0.0006	0.0005	0	0.0059	0.0033	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1032.79	39	chr6	21595020	.	CGGGGGCGGCCAT	C	1032.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.879;DP=262;ExcessHet=0;FS=1.66;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.45;ReadPosRankSum=-0.212;SOR=0.342	GT:AD:DP:GQ:PL	0/1:19,27:46:99:1043,0,705	5	0	1	0
chr6	24798766	24798766	C	T	exonic	ARMH2	.	nonsynonymous SNV	ARMH2:NM_001282492:exon1:c.G92A:p.R31H	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00812443099126	.	.	0.0005	0	0	0	.	0	0	0.0007	3.88e-05	6	154602	rs368555064	1.518e-05	1.436e-05	1.142e-05	1.905e-05	0.0002	9.76e-06	8.28e-06	8.652e-05	6.752e-05	0	5.604e-05	0	0	0	0	5.562e-06	1.728e-05	0.0002	2.63e-05	2.627e-05	3.856e-05	1.346e-05	7.247e-05	8.15e-06	5.14e-06	1.922e-05	1.033e-05	7.247e-05	0	6.554e-05	0	0	0	0	0	0	0	0.131	0.26629	T	0.202	0.27414	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	0.02808	N	0.109	0.09490	.	.	.	.	.	.	.	0.025877774	0.00769	T	0.008124	0.21521	T	.	.	.	.	0.0297737177859	0.01360	0.057700648172295914	0.05711	.	.	.	.	.	0.002036	0.01442	T	-0.557139	0.00264	T	-0.740508	0.03869	T	.	.	.	0.278472	0.04815	T	0.01789173	0.00313	0.026950842	0.00814	0.01789173	0.00312	0.026950842	0.00814	-4.385	0.29353	T	.	.	0.067	0.02488	B	.	.	-0.957885	0.00833	0.028	0.86692863964731792	0.16708	0.00086	0.00577	N	AEFBI	0.023087	0.01240	N	.	.	.	.	.	.	0.999999996602138	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.85	-11.6	0.00045	-5.386000	0.00150	-8.140000	0.01021	-0.851000	0.02709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0815:0.1057:0.2574:0.5554	5.467	0.15945	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	695.83	34	chr6	24798766	.	C	T	695.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.55;DP=247;ExcessHet=0;FS=3.946;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.649;SOR=1.402	GT:AD:DP:GQ:PL	0/1:36,26:62:99:706,0,924	5	0	1	0
chr6	26204863	26204863	C	G	exonic	H4C5	.	stopgain	H4C5:NM_003545:exon1:c.C219G:p.Y73X	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	5.445e-06	4.125e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.928077	0.99441	44	0.99123972255232706	0.53063	0.87781	0.47438	D	ALL	0.057601	0.10743	N	0.480150507650931	0.65932	4.885117	0.214394271583764	0.50647	3.254474	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	2.2	2.2	0.26966	3.096000	0.49935	-0.225000	0.10728	0.596000	0.33519	1.000000	0.71638	0.574000	0.25587	0.371000	0.26133	0.0:1.0:0.0:0.0	12.403	0.54758	693	0.58582	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	3492.83	37	chr6	26204863	.	C	G	3492.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.91;DP=446;ExcessHet=0;FS=4.867;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.62;SOR=0.903	GT:AD:DP:GQ:PL	0/1:131,135:266:99:3503,0,3153	5	0	1	0
chr6	28153236	28153236	-	GAG	exonic	ZKSCAN8	.	nonframeshift insertion	ZKSCAN8:NM_001278122:exon6:c.395_396insGAG:p.R134_H135insR,ZKSCAN8:NM_006298:exon6:c.956_957insGAG:p.R321_H322insR,ZKSCAN8:NM_001278119:exon7:c.956_957insGAG:p.R321_H322insR,ZKSCAN8:NM_001278121:exon7:c.395_396insGAG:p.R134_H135insR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1146.79	40	chr6	28153236	.	A	AGAG	1146.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.31;DP=251;ExcessHet=0;FS=22.077;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0.909;SOR=1.937	GT:AD:DP:GQ:PL	0/1:34,30:64:99:1157,0,1328	5	0	1	0
chr6	28529562	28529562	G	A	exonic	GPX5	.	nonsynonymous SNV	GPX5:NM_001509:exon2:c.G199A:p.V67I,GPX5:NM_003996:exon2:c.G199A:p.V67I	.	430	1061	31	0	0	31	0.0143985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0042	0.00459265	0.0061	0.0011	0.0036	0.0117	0.0023	0.0068	0.0022	0.0070	0.0058925	911	154602	rs115051243	0.0051	0.0051	0.0048	0.0053	0.0104	0.0050	0.0050	0.0083	0.0075	0.0010	0.0041	0.0116	0.0054	0.0017	0.0104	0.0051	0.0057	0.0057	0.0044	0.0044	0.0044	0.0044	0.0081	0.0041	0.0040	0.0062	0.0058	0.0007	0	0.0043	0.0101	0.0081	0.0022	0.0068	0.0065	0.0061	0.0033	0.286	0.49117	T	0.165	0.92824	T	0.113	0.26349	B	0.118	0.32088	B	0.018170	0.27545	N	0.332419	0.997416	0.43869	D	2.335	0.66956	M	3.53	0.04852	T	-0.63	0.24898	N	0.309	0.39558	-1.1246	0.02060	T	0.044	0.18989	T	10	0.011705905	0.00255	T	.	.	.	0.111	0.31313	.	.	0.341460817117	0.33762	0.3074882919353545	0.30661	0.222269639404	0.24763	0.494943112135	0.38125	T	0.197752	0.55452	T	-0.482461	0.00715	T	-0.456403	0.26993	T	0.062341605650971	0.07533	T	.	.	.	0.070417956	0.15508	0.1399863	0.33383	0.070417956	0.15508	0.1399863	0.33382	-9.905	0.73341	D	.	.	0.124	0.26232	B	.;.	.;.	2.594325	0.33663	19.41	0.99857656066966582	0.93639	0.90399	0.51544	D	AEFBI	0.435410	0.49605	N	0.36256030562022	0.59407	4.119742	0.294472450407026	0.55217	3.684864	0.921980790944392	0.26692	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.72	2.84	0.32241	5.778000	0.68592	4.419000	0.43309	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1086:0.0:0.8914:0.0	9.439	0.37819	675	0.60470	.;.	.	.	.	.	rs115051243	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013115	0.005051	0.016304	0.005319	0.000000	0.017241	0.018405	0.019084	0.08333	707.83	34	chr6	28529562	.	G	A	707.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.175;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=0.727;SOR=0.699	GT:AD:DP:GQ:PL	0/1:46,32:78:99:718,0,1228	5	0	1	0
chr6	30071367	30071367	G	A	exonic	RNF39	.	nonsynonymous SNV	RNF39:NM_025236:exon4:c.C1007T:p.A336V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.880485665584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.085	0.41074	T	0.407	0.34981	B	0.224	0.37970	B	0.013140	0.28942	N	0.155825	1	0.81001	D	1.275	0.32135	L	-0.54	0.70950	T	-2.35	0.51968	N	0.147	0.14905	-0.9513	0.40747	T	0.127	0.43401	T	9	0.4637737	0.59445	T	0.880486	0.99089	D	0.183	0.45592	0.548	0.66296	0.33440975612	0.33058	0.5655930896728727	0.56486	2.3389385424	0.96749	0.913363754749	0.97778	D	0.078472	0.35898	T	-0.0246357	0.48190	T	-0.273164	0.47499	T	0.94021064043045	0.61235	D	.	.	.	0.06654733	0.14327	0.2163687	0.46262	0.06654733	0.14327	0.2163687	0.46261	-7.874	0.60208	D	.	.	0.603	0.69008	P	.	.	3.670673	0.52193	23.2	0.99912474620835889	0.98167	0.23914	0.22228	N	AEFDBCI	0.085157	0.17261	N	-0.255664839296382	0.30878	1.725932	-0.192395975394553	0.31814	1.804058	0.999940896871993	0.47345	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.56751	0.32155	0	.	.	4.54	4.54	0.55220	0.300000	0.18911	.	.	0.507000	0.23093	0.103000	0.22855	1.000000	0.68203	0.965000	0.52897	0.1031:0.0:0.8969:0.0	8.976	0.35100	862	0.33134	B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	544.83	46	chr6	30071367	.	G	A	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.637;DP=257;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-2.075;SOR=0.909	GT:AD:DP:GQ:PL	0/1:25,23:48:99:555,0,672	5	0	1	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	0.1667	2533.06	104	chr6	31271103	.	C	T	2533.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.696;DP=578;ExcessHet=0.4139;FS=3.583;MLEAC=2;MLEAF=0.167;MQ=53.16;MQRankSum=1.64;QD=14.07;ReadPosRankSum=1.19;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,20:72:99:.:.:667,0,2071:.	4	0	2	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	0.4167	1815.52	187	chr6	31355425	.	T	C	1815.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.604;DP=951;ExcessHet=6.1542;FS=15.436;MLEAC=5;MLEAF=0.417;MQ=57.47;MQRankSum=-12.39;QD=2.26;ReadPosRankSum=-0.065;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,23:176:99:.:.:225,0,4719:.	1	0	5	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1898.64	36	chr6	31356431	.	G	*	1898.64	.	AC=4;AF=0.333;AN=12;DP=258;ExcessHet=1.383;FS=0.513;MLEAC=4;MLEAF=0.333;MQ=55.96;QD=7.45;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,17:56:99:0|1:31356417_G_A:596,0,1577:31356417	2	0	4	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	911.56	68	chr6	31356716	.	CA	*	911.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-2.317;DP=301;ExcessHet=3.1439;FS=8.639;MLEAC=7;MLEAF=0.583;MQ=57.29;MQRankSum=-5.189;QD=3.03;ReadPosRankSum=0.379;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,20:62:99:0|1:31356711_C_CGGAG:713,0,1703:31356711	1	2	3	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	959.56	67	chr6	31356719	.	GT	*	959.56	.	AC=7;AF=0.583;AN=12;BaseQRankSum=-1.85;DP=306;ExcessHet=3.1439;FS=9.668;MLEAC=7;MLEAF=0.583;MQ=57.16;MQRankSum=-5.204;QD=3.14;ReadPosRankSum=0.145;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,22:65:99:0|1:31356711_C_CGGAG:780,0,1735:31356711	1	2	3	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	970.0	94	chr6	31356748	.	CCT	*	970.0	.	AC=10;AF=0.833;AN=12;DP=405;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.833;MQ=52.02;QD=2.4;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,88:88:99:1|1:31356711_C_CGGAG:3940,265,0:31356711	1	5	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	4040.99	132	chr6	31356827	.	T	*	4040.99	.	AC=9;AF=0.75;AN=12;DP=671;ExcessHet=0;FS=3.165;MLEAC=9;MLEAF=0.75;MQ=54.87;QD=6.07;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,70:130:99:0|1:31356711_C_CGGAG:5459,2500,2285:31356711	0	3	3	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2026.55	105	chr6	31625601	.	T	C	2026.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.14;DP=643;ExcessHet=11.5949;FS=279.671;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.37;ReadPosRankSum=1.33;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,20:111:99:0|1:31625601_T_C:212,0,3119:31625601	0	0	6	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2340.55	105	chr6	31625602	.	G	A	2340.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.649;DP=645;ExcessHet=11.5949;FS=309.606;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=1.19;SOR=8.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,20:111:99:0|1:31625601_T_C:212,0,3119:31625601	0	0	6	0
chr6	31972121	31972121	C	T	exonic	STK19	.	nonsynonymous SNV	STK19:NM_032454:exon1:c.C125T:p.A42V	.	.	.	.	.	.	.	.	.	.	.	2822905	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.069	.	0.0032	0.00319489	0.0041	0.0004	0.0014	0	0.0105	0.0058	0.0046	0.0013	0.0039068	604	154602	rs80001134	0.0037	0.0037	0.0037	0.0037	0.0040	0.0036	0.0036	0.0039	0.0039	0.0008	0.0015	0.0033	0	0.0099	0	0.0040	0.0030	0.0011	0.0037	0.0037	0.0036	0.0038	0.0055	0.0034	0.0033	0.0050	0.0048	0.0005	0	0.0027	0.0023	0	0.0100	0	0.0055	0.0038	0.0008	0.0	0.91255	D	0.751	0.13441	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.999929	0.19486	N	0.205	0.09354	N	0.57	0.54347	T	-3.78	0.71519	D	0.124	0.11626	-1.0207	0.23486	T	0.027	0.11663	T	9	0.004273206	0.00086	T	.	.	.	0.069	0.20116	.	.	0.213573922156	0.20996	0.03549893132641255	0.03496	0.527222463121	0.50326	0.45849943161	0.33105	T	0.00209	0.01499	T	-0.489074	0.00657	T	-0.470872	0.25423	T	0.0385569975504807	0.03430	T	0.490351	0.15073	T	0.025932401	0.01589	0.08875417	0.20714	0.034199826	0.03791	0.08840846	0.20612	-4.193	0.26853	T	.	.	0.113	0.22171	B	.;.;.	.;.;.	1.115055	0.15006	11.51	0.96813879692420401	0.31199	0.00757	0.03139	N	ALL	0.051581	0.09128	N	-1.04080795008912	0.07769	0.3620302	-1.09480696875959	0.07801	0.3809494	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.62	-0.429	0.11689	-0.031000	0.12237	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1959:0.3821:0.1912:0.2308	0.678	0.00815	923	0.18507	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1050.83	43	chr6	31972121	.	C	T	1050.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.012;DP=265;ExcessHet=0;FS=0.891;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.215;SOR=0.562	GT:AD:DP:GQ:PL	0/1:33,39:72:99:1061,0,812	5	0	1	0
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	6769.44	219	chr6	32521981	.	T	*	6769.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.806;DP=1195;ExcessHet=0.7136;FS=5.046;MLEAC=4;MLEAF=0.4;MQ=51.87;MQRankSum=-7.363;QD=7.31;ReadPosRankSum=-4.572;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,53:249:99:0|1:32521957_G_A:1639,0,6853:32521957	1	0	4	1
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4625.1	112	chr6	32522156	.	T	*	4625.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.313;DP=855;ExcessHet=0.095;FS=3.605;MLEAC=1;MLEAF=0.083;MQ=54.89;MQRankSum=-13.57;QD=8.91;ReadPosRankSum=2.95;SOR=0.463	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,21:187:99:0|1:32522156_T_*:406,0,6571:32522156	5	0	1	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1694.13	112	chr6	32522157	.	C	*	1694.13	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.942;DP=854;ExcessHet=0.7136;FS=0;MLEAC=2;MLEAF=0.167;MQ=54.88;MQRankSum=-13.46;QD=3.25;ReadPosRankSum=1.33;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,21:184:99:0|1:32522156_T_*:415,0,6445:32522156	4	0	2	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1705.45	112	chr6	32522159	.	T	*	1705.45	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.675;DP=846;ExcessHet=0.7136;FS=0.702;MLEAC=2;MLEAF=0.167;MQ=54.94;MQRankSum=-13.42;QD=3.34;ReadPosRankSum=1.46;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,21:183:99:0|1:32522156_T_*:418,0,6403:32522156	4	0	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	17177.1	151	chr6	32530184	.	T	*	17177.1	.	AC=5;AF=0.417;AN=12;DP=695;ExcessHet=0;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=56.32;MQRankSum=-11.56;QD=25.41;ReadPosRankSum=-3.157;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,20:135:95:.:.:5131,3990,3997:.	2	1	3	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	19791.2	150	chr6	32530185	.	T	*	19791.2	.	AC=4;AF=0.333;AN=12;DP=680;ExcessHet=0;FS=3.529;MLEAC=4;MLEAF=0.333;MQ=56.38;MQRankSum=-11.52;QD=29.5;ReadPosRankSum=-3.174;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,19:134:60:.:.:4890,3981,4006:.	3	1	2	0
chr6	32530205	32530205	-	CCA	exonic	HLA-DRB5	.	nonframeshift insertion	HLA-DRB5:NM_002125:exon1:c.19_20insTGG:p.P7delinsLA	.	3	1475	44	0	0	44	0.0146961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.504e-05	0.0002	0	0	0	1.514e-05	0	0	0.0044567	116	26028	rs774116269	7.428e-07	2.14e-05	0	1.484e-06	1.224e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.224e-05	1.323e-05	0.0002	1.294e-05	1.354e-05	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	473.03	102	chr6	32530205	.	G	GCCA	473.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.45;DP=437;ExcessHet=0.4139;FS=17.04;MLEAC=2;MLEAF=0.167;MQ=55.95;MQRankSum=-5.898;QD=2.6;ReadPosRankSum=0.193;SOR=2.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,11:111:99:0|1:32530195_G_A:161,0,4166:32530195	4	0	2	0
chr6	32530207	32530207	-	C	exonic	HLA-DRB5	.	frameshift insertion	HLA-DRB5:NM_002125:exon1:c.17_18insG:p.G8Wfs*34	.	91	1381	43	0	7	50	0.0153298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.516e-05	0.0002	0	0	0	1.521e-05	0	0	0.0043415	113	26028	rs747906579	7.473e-07	2.278e-05	0	1.493e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.594e-05	0.0002	1.559e-05	1.631e-05	0.0002	2.65e-06	9.9e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	485.03	102	chr6	32530207	.	G	GC	485.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.99;DP=433;ExcessHet=0.4139;FS=14.958;MLEAC=2;MLEAF=0.167;MQ=55.94;MQRankSum=-5.969;QD=2.72;ReadPosRankSum=0.055;SOR=2.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,11:108:99:0|1:32530195_G_A:170,0,4040:32530195	4	0	2	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2307.01	124	chr6	32584171	.	G	*	2307.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.93;DP=976;ExcessHet=1.383;FS=4.31;MLEAC=2;MLEAF=0.167;MQ=46.96;MQRankSum=4.11;QD=3.37;ReadPosRankSum=1.97;SOR=0.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,39:176:99:0|1:32584161_G_A:1225,0,5635:32584161	4	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2601.9	168	chr6	32584174	.	GCC	G	2601.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.89;DP=1013;ExcessHet=0.1336;FS=33.477;MLEAC=4;MLEAF=0.333;MQ=48.5;MQRankSum=-0.856;QD=6.54;ReadPosRankSum=-5.045;SOR=2.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:163,24:187:99:.:.:517,0,6732:.	3	1	2	0
chr6	32584176	32584178	CCG	0	exonic	HLA-DRB1	.	.	.	.	22	858	448	187	7	829	0.323877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2163.51	168	chr6	32584176	.	CCG	*	2163.51	.	AC=4;AF=0.4;AN=10;BaseQRankSum=3.52;DP=1110;ExcessHet=0.7136;FS=4.954;MLEAC=4;MLEAF=0.4;MQ=48.33;MQRankSum=-0.678;QD=3.63;ReadPosRankSum=0.944;SOR=1.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,24:189:42:0|1:32584176_CCG_C:580,0,5890:32584176	2	1	2	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10658.6	301	chr6	32584370	.	G	*	10658.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.44;DP=1462;ExcessHet=0.7136;FS=8.32;MLEAC=4;MLEAF=0.333;MQ=55;MQRankSum=-13.72;QD=7.58;ReadPosRankSum=-0.126;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,102:381:99:0|1:32584366_C_T:3587,0,9957:32584366	2	0	4	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1141.06	247	chr6	32641444	.	G	*	1141.06	.	AC=5;AF=0.417;AN=12;DP=896;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=56.04;QD=1.86;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,59:230:99:0|1:32641430_C_T:1963,0,7003:32641430	2	1	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1183.06	247	chr6	32641445	.	A	*	1183.06	.	AC=5;AF=0.417;AN=12;DP=897;ExcessHet=0.095;FS=21.784;MLEAC=5;MLEAF=0.417;MQ=55.97;QD=1.93;SOR=1.335	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,59:230:99:0|1:32641430_C_T:1963,0,7003:32641430	2	1	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1300.06	247	chr6	32641462	.	G	*	1300.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=19.881;MLEAC=5;MLEAF=0.417;MQ=57.02;QD=2.04;SOR=1.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,61:244:99:0|1:32641430_C_T:1990,0,7468:32641430	2	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1258.06	247	chr6	32641464	.	T	*	1258.06	.	AC=5;AF=0.417;AN=12;DP=930;ExcessHet=0.095;FS=20.275;MLEAC=5;MLEAF=0.417;MQ=57.32;QD=1.98;SOR=1.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,61:244:99:0|1:32641430_C_T:1990,0,7468:32641430	2	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2032.06	247	chr6	32641501	.	G	*	2032.06	.	AC=5;AF=0.417;AN=12;DP=938;ExcessHet=0.095;FS=5.105;MLEAC=5;MLEAF=0.417;MQ=57.94;QD=3.1;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,56:257:99:0|1:32641476_G_A:1746,0,8271:32641476	2	1	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2341.06	247	chr6	32641522	.	A	*	2341.06	.	AC=5;AF=0.417;AN=12;DP=946;ExcessHet=0.095;FS=8.264;MLEAC=5;MLEAF=0.417;MQ=58.15;QD=3.58;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,53:262:99:0|1:32641476_G_A:1394,0,8565:32641476	2	1	3	0
chr6	33279281	33279281	G	A	exonic	WDR46	.	nonsynonymous SNV	WDR46:NM_001164267:exon15:c.C1666T:p.R556C,WDR46:NM_005452:exon15:c.C1828T:p.R610C	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0126071359345	0.0002	.	4.124e-05	0.0002	0	0	0	3.002e-05	0	6.075e-05	3.23e-05	5	154602	rs148252283	3.078e-05	3.078e-05	2.042e-05	4.125e-05	0.0002	2.347e-05	2.095e-05	3.983e-05	2.373e-05	0.0001	0	0	0	0	0.0002	2.968e-05	4.968e-05	4.637e-05	4.594e-05	4.593e-05	5.138e-05	4.026e-05	7.214e-05	2.107e-05	1.525e-05	1.972e-05	1.124e-05	7.214e-05	0	0	0	0	0	0	5.881e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.002	0.09854	B	0.001	0.04355	B	0.000852	0.41440	D	0.243090	0.733704	0.29804	N	.	.	.	1.69	0.27032	T	-2.15	0.48687	N	0.19	0.20793	-1.0556	0.12882	T	0.026	0.11309	T	10	0.065289885	0.08788	T	0.012607	0.31334	T	0.090	0.26093	.	.	0.115124310173	0.11017	0.29921005490428815	0.29834	1.07849054406	0.77062	0.354781627655	0.18623	T	0.290347	0.66312	T	-0.337915	0.05534	T	-0.4865	0.23758	T	0.907956659793854	0.56239	D	0.90371	0.66210	D	0.20622128	0.42789	0.1303815	0.31329	0.20622128	0.42789	0.1303815	0.31328	-8.043	0.61363	D	.	.	0.197	0.41873	B	.	.	3.511530	0.49179	22.7	0.99844989553487773	0.92489	0.32670	0.24642	N	AEFDBCI	0.142834	0.26538	N	-0.528568471206744	0.21161	1.120972	-0.448108615932025	0.23602	1.288003	0.999992004420743	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.49	3.74	0.42108	0.633000	0.24289	3.520000	0.38893	-0.119000	0.14319	0.001000	0.13787	0.606000	0.25744	0.834000	0.39329	0.1716:0.0:0.8284:0.0	8.578	0.32770	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1328.83	35	chr6	33279281	.	G	A	1328.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.9;DP=276;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.386;SOR=0.558	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1339,0,1159	5	0	1	0
chr6	33455227	33455227	C	G	exonic	ZBTB9	.	nonsynonymous SNV	ZBTB9:NM_152735:exon2:c.C127G:p.L43V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0128975865573	0.0018	0.000798722	0.0019	0.0010	0.0045	0	0.0006	0.0021	0.0066	0.0012	0.0018758	290	154602	rs41267651	0.0024	0.0024	0.0024	0.0023	0.0080	0.0023	0.0023	0.0061	0.0055	0.0009	0.0041	0.0005	2.519e-05	0.0006	0.0080	0.0026	0.0034	0.0011	0.0019	0.0019	0.0019	0.0020	0.0033	0.0017	0.0017	0.0026	0.0024	0.0006	0	0.0033	0.0003	0.0002	0.0004	0.0034	0.0029	0.0038	0.0010	0.134	0.26300	T	0.188	0.42794	T	0.659	0.40886	P	0.555	0.49371	P	0.022223	0.26675	U	0.157011	0.791566	0.29220	N	2.21	0.62235	M	-0.32	0.68181	T	-0.85	0.23156	N	0.106	0.09066	-0.9149	0.46233	T	0.171	0.51229	T	10	0.010788649	0.00239	T	0.012898	0.31871	T	0.128	0.35103	.	.	0.654062484426	0.65118	0.5277456185870186	0.52698	1.09006224248	0.77404	0.565167486668	0.47995	T	0.026755	0.48795	T	-0.477137	0.00769	T	-0.458295	0.26785	T	0.0252106042045698	0.01300	T	0.851715	0.53598	D	0.06682156	0.14414	0.14275108	0.33949	0.06682156	0.14414	0.14275108	0.33948	-7.871	0.60187	D	.	.	0.101	0.45024	B	.;.;.	.;.;.	4.094899	0.61010	24.3	0.99592132125131982	0.73690	0.59766	0.31006	D	AEFDGBCI	0.066502	0.13027	N	0.169988595814306	0.49762	3.172975	0.181654971338702	0.48843	3.094825	0.999989244178834	0.51787	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.97	3.03	0.34070	1.711000	0.37549	1.954000	0.29902	0.599000	0.40250	0.526000	0.27158	1.000000	0.68203	0.998000	0.85391	0.0:0.6805:0.0:0.3195	5.326	0.15215	560	0.71333	BTB/POZ domain;BTB/POZ domain;BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017838	0.065657	0.017663	0.000000	0.000000	0.000000	0.012195	0.003788	0.08333	1175.83	40	chr6	33455227	.	C	G	1175.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.626;DP=302;ExcessHet=0;FS=4.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.412;SOR=0.353	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1186,0,1547	5	0	1	0
chr6	33789040	33789040	G	T	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001348710:exon1:c.C77A:p.T26N,LEMD2:NM_181336:exon1:c.C77A:p.T26N	Cataract 46, juvenile-onset, Autosomal recessive	403	1106	13	0	0	13	0.0058427	.	.	.	699557	LEMD2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.297	0.639280208701	0.0011	0.000998403	0.0018	0.0003	0.0025	0	0	0.0015	0.0013	0.0049	0.0015265	236	154602	rs201742534	0.0013	0.0013	0.0012	0.0015	0.0060	0.0013	0.0013	0.0044	0.0038	6.897e-05	0.0019	0.0006	3.027e-05	6.668e-05	0.0060	0.0012	0.0017	0.0041	0.0014	0.0014	0.0013	0.0015	0.0033	0.0012	0.0012	0.0021	0.0017	0.0002	0.0395	0.0017	0.0012	0	0	0.0034	0.0016	0.0043	0.0033	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.854	0.60866	P	0.035878	0.24591	N	0.289183	0.996411	0.43191	D	2.435	0.70606	M	0.59	0.53943	T	-1.29	0.32387	N	0.357	0.39861	-0.7408	0.58412	T	0.184	0.53255	T	10	0.007704705	0.00175	T	0.63928	0.96921	D	0.297	0.61730	.	.	0.88499437131	0.88386	0.6374398677451883	0.63677	2.36727214104	0.96895	0.967392325401	0.99966	D	0.138416	0.47188	T	-0.329247	0.06168	T	-0.245587	0.50253	T	0.162509006180523	0.18055	T	0.766923	0.39491	T	0.7202142	0.79173	0.6774251	0.81054	0.6841438	0.77194	0.7451461	0.84937	-7.026	0.54223	T	.	.	0.936	0.85639	P	.;.	.;.	3.929071	0.57419	23.9	0.98969454934959467	0.49501	0.07249	0.13273	N	ALL	0.268558	0.38503	N	0.439557539998273	0.63614	4.59848	0.364489302476495	0.59387	4.115924	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.99	3.12	0.34986	1.487000	0.35149	11.025000	0.84998	0.639000	0.52094	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0985:0.0:0.9015:0.0	9.958	0.40848	743	0.52768	LEM domain|LEM domain|LEM domain;LEM domain|LEM domain|LEM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005561	0.000000	0.009511	0.000000	0.050000	0.008621	0.000000	0.015152	0.08333	462.83	35	chr6	33789040	.	G	T	462.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.12;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.17;SOR=0.56	GT:AD:DP:GQ:PL	0/1:18,21:39:99:473,0,428	5	0	1	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	42.88	70	chr6	34528878	.	G	C	42.88	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.776;DP=307;ExcessHet=0;FS=69.68;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=0.582;SOR=6.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,16:52:50:.:.:50,0,620:.	2	0	1	3
chr6	34871686	34871686	A	G	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon19:c.A4084G:p.I1362V	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0065	0.00479233	0.0071	0.0011	0.0090	0.0007	0.0060	0.0085	0.0157	0.0064	0.0068175	1054	154602	rs147415559	0.0075	0.0075	0.0073	0.0077	0.0146	0.0074	0.0073	0.0121	0.0111	0.0014	0.0089	0.0133	0.0003	0.0065	0.0146	0.0078	0.0079	0.0071	0.0063	0.0064	0.0063	0.0063	0.0090	0.0060	0.0059	0.0078	0.0076	0.0012	0.0286	0.0090	0.0135	0.0002	0.0063	0.0238	0.0084	0.0114	0.0068	0.107	0.29554	T	0.306	0.19972	T	0.0	0.02946	B	0.002	0.06944	B	0.013352	0.28869	N	0.388740	0.999976	0.19072	N	1.895	0.50365	L	2.93	0.10386	T	-0.54	0.17210	N	0.135	0.26111	-0.9540	0.40274	T	0.005	0.01833	T	10	0.0040123165	0.00078	T	.	.	.	0.038	0.09825	.	.	0.166414681773	0.16258	0.3526776110218733	0.35181	0.107623241374	0.12144	0.248244732618	0.03585	T	0.014213	0.12144	T	-0.606782	0.00132	T	-0.63798	0.09816	T	0.00257089722774354	0.00027	T	0.606339	0.22814	T	0.021554956	0.00765	0.030293586	0.01466	0.021554956	0.00765	0.030293586	0.01466	-3.97	0.23353	T	.	.	0.086	0.10691	B	.;.	.;.	0.412397	0.07833	4.527	0.9730147765059125	0.33280	0.19127	0.20538	N	AEFBI	0.088701	0.17982	N	-0.7715972624988	0.14053	0.6970028	-0.715032602805248	0.16587	0.8781495	0.131536229338027	0.17100	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-3.13	0.04944	-0.455000	0.06837	-0.094000	0.12022	-0.053000	0.16966	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.3455:0.3991:0.061:0.1944	4.156	0.09727	290	0.88477	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.017663	0.017544	0.000000	0.008621	0.012195	0.007576	0.1667	2968.06	34	chr6	34871686	.	A	G	2968.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.28;DP=377;ExcessHet=0.4139;FS=4.317;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.77;SOR=0.863	GT:AD:DP:GQ:PL	0/1:74,70:144:99:1645,0,1914	4	0	2	0
chr6	39879350	39879350	C	T	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon14:c.C1718T:p.P573L,DAAM2:NM_015345:exon14:c.C1718T:p.P573L	.	409	1096	16	1	0	18	0.0081448	.	.	.	699578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.272	.	.	0.00459265	0.0034	0.0006	0.0019	0.0106	0	0.0001	0.0059	0.0182	0.0028978	448	154602	rs199956358	0.0015	0.0015	0.0011	0.0019	0.0168	0.0014	0.0014	0.0161	0.0158	0.0002	0.0011	3.847e-05	0.0071	0	0.0023	7.294e-05	0.0045	0.0168	0.0012	0.0012	0.0008	0.0015	0.0158	0.0010	0.0010	0.0129	0.0119	0.0007	0	0.0005	0	0.0118	0	0	5.881e-05	0.0005	0.0158	0.005	0.63226	D	0.003	0.79402	D	0.009	0.15093	B	0.007	0.12992	B	0.000459	0.44317	D	0.194831	1	0.81001	D	0.975	0.24501	L	0.86	0.46777	T	-4.21	0.75776	D	0.582	0.68516	-1.0873	0.05995	T	0.035	0.15247	T	10	0.008737445	0.00198	T	.	.	.	0.272	0.58758	.	.	0.707499504505	0.70495	0.29680205181803404	0.29593	0.172399373927	0.19416	0.639637470245	0.58512	T	0.118516	0.59213	T	-0.275222	0.11180	T	-0.152518	0.59019	T	0.0833992851514409	0.10417	T	0.794521	0.43681	T	0.17288756	0.38005	0.18540746	0.41651	0.17288756	0.38005	0.18540746	0.41651	-6.662	0.51523	T	.	.	0.104	0.18787	B	.;.;.;.	.;.;.;.	4.177147	0.62853	24.5	0.99677472132365275	0.79043	0.98119	0.79760	D	AEFDBI	0.803731	0.72879	D	-0.247381216631754	0.31208	1.747624	-0.0847487457528862	0.36019	2.090972	0.99999999989969	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.63	4.63	0.57175	7.792000	0.84405	7.533000	0.59948	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:0.9126:0.0:0.0874	10.864	0.46054	665	0.61472	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.08333	1564.83	34	chr6	39879350	.	C	T	1564.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.252;DP=273;ExcessHet=0;FS=3.646;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-0.347;SOR=0.886	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1575,0,1090	5	0	1	0
chr6	42269439	42269439	G	A	exonic	TRERF1	.	nonsynonymous SNV	TRERF1:NM_001297573:exon5:c.C152T:p.S51L,TRERF1:NM_033502:exon5:c.C152T:p.S51L	.	.	.	.	.	.	.	.	.	.	.	2392227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0265358886035	0.0005	0.000399361	0.0003	0.0002	0	0	0	0.0005	0	0.0002	0.0002975	46	154602	rs201817030	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0002	4.472e-05	0	0	1.872e-05	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0003	0	0	0	0.0002	9.423e-05	0	0.0006	0	0	0.0	0.91255	D	0.033	0.64786	D	0.998	0.90584	D	0.96	0.84481	D	0.000058	0.53742	D	0.000000	0.999987	0.54805	D	0.805	0.20218	L	2.08	0.26588	T	-2.63	0.60348	D	0.648	0.70527	-1.0361	0.18513	T	0.093	0.35363	T	10	0.26162845	0.43624	T	0.026536	0.49438	D	0.235	0.53788	.	.	0.479604954264	0.47592	0.5226846532534771	0.52191	0.515395677199	0.49451	0.50862544775	0.40029	T	0.027765	0.27536	T	-0.101764	0.36132	T	-0.0175115	0.69193	D	0.135559218578537	0.15886	T	0.956404	0.83469	D	0.42124164	0.62175	0.43003365	0.66666	0.42124164	0.62175	0.43003365	0.66666	-3.774	0.20939	T	.	.	0.287	0.53777	B	.;.;.;.	.;.;.;.	4.505486	0.70502	25.5	0.99917373798101572	0.98518	0.89315	0.49705	D	AEFDGBHCI	0.639483	0.61752	D	0.648829249233163	0.76294	6.459804	0.674545871386215	0.80451	7.301595	0.999999985558335	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	5.63	5.63	0.86108	5.771000	0.68535	9.944000	0.82678	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.674	0.95917	873	0.30802	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2308.83	39	chr6	42269439	.	G	A	2308.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.58;DP=378;ExcessHet=0;FS=1.8;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.215;SOR=0.867	GT:AD:DP:GQ:PL	0/1:105,85:190:99:2319,0,2600	5	0	1	0
chr6	43038278	43038278	G	T	exonic	CUL7	.	nonsynonymous SNV	CUL7:NM_001168370:exon25:c.C4858A:p.L1620I,CUL7:NM_001374872:exon25:c.C4858A:p.L1620I,CUL7:NM_001374873:exon25:c.C4774A:p.L1592I,CUL7:NM_001374874:exon25:c.C4759A:p.L1587I,CUL7:NM_014780:exon25:c.C4762A:p.L1588I	3-M syndrome 1, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	YES	193056	3M_syndrome_1|not_specified|not_provided	MONDO:MONDO:0010117,MedGen:C2678312,OMIM:273750,Orphanet:2616|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.592	.	0.0065	0.00559105	0.0081	0.0016	0.0076	0	0.0155	0.0116	0.0057	0.0002	0.0080206	1240	154602	rs147493246	0.0087	0.0087	0.0088	0.0086	0.0097	0.0086	0.0085	0.0095	0.0094	0.0012	0.0070	0.0054	0	0.0169	0.0024	0.0097	0.0082	0.0005	0.0071	0.0071	0.0069	0.0073	0.0098	0.0067	0.0066	0.0092	0.0089	0.0017	0.0022	0.0098	0.0063	0	0.0129	0	0.0098	0.0147	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.082079	0.20829	N	0.485095	0.999985	0.54805	D	2.485	0.72352	M	-2.28	0.87750	D	-1.32	0.32991	N	0.618	0.66615	0.563	0.91411	D	0.740	0.91102	D	10	0.010615438	0.00236	T	.	.	.	0.592	0.83747	.	.	0.916836334221	0.91599	0.498244454755583	0.49745	0.803644422357	0.66363	0.626336634159	0.56626	T	0.529126	0.83673	D	-0.177164	0.24159	T	-0.016872	0.69234	D	0.0322834929675525	0.02352	T	0.931607	0.75038	D	0.2859538	0.51614	0.35068175	0.60673	0.23361786	0.46169	0.35068175	0.60673	-9.717	0.72200	D	0.6524050999820115	0.72474	0.295	0.55082	B	.;.	.;.	4.690317	0.75145	26.3	0.99653260477804639	0.77442	0.95454	0.64785	D	AEFBCI	0.550190	0.56276	D	0.710835064103553	0.80343	7.273295	0.697589215546845	0.82194	7.70747	0.999999999989499	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.879000	0.62792	11.886000	0.98962	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.382	0.90399	178	0.93097	Cullin protein, neddylation domain;.	.	.	.	.	rs147493246	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	0.004532	0.020202	0.002717	0.000000	0.000000	0.025862	0.000000	0.000000	0.08333	4247.83	39	chr6	43038278	.	G	T	4247.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.128;DP=491;ExcessHet=0;FS=0.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-1.53;SOR=0.657	GT:AD:DP:GQ:PL	0/1:147,152:299:99:4258,0,3954	5	0	1	0
chr6	43076902	43076902	G	A	exonic	PTK7	.	nonsynonymous SNV	PTK7:NM_001270398:exon1:c.G19A:p.G7R	.	416	1102	3	0	1	4	0.00135931	.	.	.	2823047	not_provided|PTK7-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.132	.	.	0.0061901	0.0036	0.0057	0.0172	0	0	0.0102	0	0	0.0016623	257	154602	rs139636574	0.0102	0.0097	0.0103	0.0100	0.0115	0.0100	0.0100	0.0113	0.0112	0.0014	0.0075	0.0048	0	0.0178	0.0030	0.0115	0.0099	0.0006	0.0090	0.0090	0.0088	0.0091	0.0132	0.0086	0.0084	0.0120	0.0117	0.0021	0.0022	0.0132	0.0063	0	0.0145	0.0034	0.0127	0.0142	0	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.87	0.74583	T	-0.24	0.10833	N	0.129	0.12341	-0.9484	0.41245	T	0.119	0.41691	T	8	0.003965497	0.00076	T	.	.	.	0.132	0.35948	0.299	0.26522	0.0675242888579	0.06100	0.1678347992553616	0.16703	0.421350123213	0.42644	0.315058588982	0.12672	T	.	.	.	-0.522502	0.00425	T	-0.512926	0.21015	T	0.0722060694025672	0.08957	T	0.427957	0.11563	T	.	.	.	.	.	.	.	.	-2.759	0.07812	T	.	.	0.090	0.12560	B	.	.	0.917428	0.12921	9.430	0.93434793979861896	0.23209	0.09635	0.15347	N	AEFDBCI	0.074780	0.14999	N	-0.8817684387191	0.11277	0.543324	-0.906701121418943	0.11936	0.6111136	0.999999512845453	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	4.2	2.4	0.28568	0.879000	0.27783	3.361000	0.37860	-0.135000	0.12811	0.151000	0.23669	0.987000	0.30940	0.039000	0.14166	0.1116:0.2101:0.6784:0.0	5.338	0.15276	268	0.89479	.	.	.	.	.	rs139636574	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	544.83	35	chr6	43076902	.	G	A	544.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.718;SOR=0.874	GT:AD:DP:GQ:PL	0/1:19,21:40:99:555,0,432	5	0	1	0
chr6	43614439	43614439	C	A	exonic	POLH	.	nonsynonymous SNV	POLH:NM_001291969:exon9:c.C1652A:p.S551Y,POLH:NM_006502:exon11:c.C2024A:p.S675Y	Xeroderma pigmentosum, variant type, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	300268	Xeroderma_pigmentosum_variant_type|POLH-related_disorder|Xeroderma_pigmentosum|not_provided	MONDO:MONDO:0010214,MedGen:C1848410,OMIM:278750,Orphanet:90342|.|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0146155645273	0.0015	0.000599042	0.0018	0	0	0	0.0079	0.0022	0.0044	0.0008	0.0015782	244	154602	rs151095678	0.0015	0.0015	0.0015	0.0016	0.0015	0.0015	0.0014	0.0014	0.0014	8.961e-05	4.472e-05	0	2.519e-05	0.0072	0	0.0015	0.0011	0.0009	0.0017	0.0017	0.0015	0.0018	0.0024	0.0015	0.0014	0.0021	0.0020	4.81e-05	0	0.0002	0	0	0.0074	0	0.0024	0.0005	0.0004	0.021	0.49117	D	0.033	0.53072	D	0.845	0.46707	P	0.259	0.39405	B	0.050657	0.02014	N	1.885850	0.85215	0.35241	D	1.245	0.31408	L	0.27	0.59176	T	-2.61	0.56144	D	0.111	0.09772	-0.8769	0.50005	T	0.141	0.46183	T	10	0.004907161	0.00105	T	0.014616	0.34856	T	0.203	0.48915	.	.	0.72232725858	0.71987	0.19483306380205648	0.19401	0.350778720902	0.36924	0.342900753021	0.16872	T	0.215691	0.57765	T	-0.503553	0.00546	T	-0.495005	0.22868	T	0.0745560942239734	0.09275	T	0.746125	0.36682	T	0.1708723	0.37688	0.14546658	0.34498	0.1708723	0.37688	0.14546658	0.34497	-8.424	0.63924	D	.	.	0.092	0.13503	B	.	.	2.032039	0.25824	16.90	0.91656504199356903	0.20945	0.81329	0.40755	D	AEFDBHCI	0.231066	0.35435	N	-0.176863252779593	0.34101	1.942324	-0.233560101000835	0.30343	1.707561	0.999999999999591	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	1.223000	0.32131	4.032000	0.41347	0.599000	0.40250	0.001000	0.13787	0.968000	0.29604	0.014000	0.10232	0.0:1.0:0.0:0.0	18.235	0.89885	274	0.89249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	809.83	33	chr6	43614439	.	C	A	809.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.944;DP=268;ExcessHet=0;FS=1.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-0.956;SOR=0.465	GT:AD:DP:GQ:PL	0/1:57,37:94:99:820,0,1525	5	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	69.71	80	chr6	44229406	.	C	T	69.71	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.44;DP=406;ExcessHet=0;FS=75.389;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.269;SOR=6.592	GT:AD:DP:GQ:PL	0/1:61,26:87:78:78,0,967	3	0	1	2
chr6	44408487	44408487	C	T	exonic	CDC5L	.	nonsynonymous SNV	CDC5L:NM_001253:exon8:c.C947T:p.A316V	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.0441891416331	7.7e-05	.	0.0003	0	0.0002	0	0	0.0003	0	0.0007	0.0002199	34	154602	rs373916286	0.0001	0.0001	0.0001	0.0002	0.0024	0.0001	0.0001	0.0015	0.0012	5.976e-05	0.0001	0.0020	0	0	0.0024	5.217e-05	0.0001	0.0006	8.547e-05	8.538e-05	0.0001	4.038e-05	0.0002	4.96e-05	3.965e-05	5.843e-05	4.24e-05	0	0	0	0.0006	0	0	0	0.0001	0.0010	0.0002	0.002	0.72154	D	0.007	0.69154	D	0.919	0.50927	P	0.337	0.42281	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.805	0.81760	M	0.71	0.51228	T	-3.19	0.64593	D	0.786	0.78262	-0.7148	0.59717	T	0.152	0.48049	T	10	0.36222675	0.52823	T	0.044189	0.61363	D	0.297	0.61730	.	.	0.721576156449	0.71912	0.5438709904152774	0.54313	0.637666034433	0.57498	0.739515900612	0.72902	T	0.409969	0.76485	T	-0.0743233	0.40634	T	-0.00180573	0.70219	D	0.230678230441729	0.21984	T	0.955404	0.83015	D	0.48157904	0.65996	0.4940675	0.70738	0.48157904	0.65996	0.4940675	0.70739	-9.608	0.71529	D	.	.	0.249	0.48334	B	.	.	4.578858	0.72309	25.8	0.99889390757119945	0.96359	0.99229	0.93135	D	AEFDGBI	0.873557	0.79597	D	0.728153397279819	0.81478	7.531585	0.765372819170861	0.87300	9.175004	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.905000	0.86479	7.680000	0.65243	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	20.296	0.98558	606	0.67383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.08333	1301.83	34	chr6	44408487	.	C	T	1301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.834;DP=263;ExcessHet=0;FS=0.878;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=-0.728;SOR=0.551	GT:AD:DP:GQ:PL	0/1:33,47:80:99:1312,0,851	5	0	1	0
chr6	52273751	52273751	C	T	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001366375:exon5:c.G697A:p.D233N,MCM3:NM_001270472:exon9:c.G1402A:p.D468N,MCM3:NM_001366369:exon10:c.G1540A:p.D514N,MCM3:NM_001366370:exon10:c.G1540A:p.D514N,MCM3:NM_001366371:exon10:c.G1489A:p.D497N,MCM3:NM_001366372:exon10:c.G1489A:p.D497N,MCM3:NM_001366374:exon10:c.G931A:p.D311N,MCM3:NM_002388:exon10:c.G1540A:p.D514N,MCM3:NM_001366373:exon11:c.G1021A:p.D341N	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0130031276609	0.0023	0.00199681	0.0045	0.0008	0.0011	0	0.0054	0.0070	0.0023	0.0006	0.0040944	633	154602	rs41273732	0.0040	0.0040	0.0041	0.0039	0.0046	0.0039	0.0039	0.0045	0.0044	0.0005	0.0017	0.0013	0	0.0065	0.0026	0.0046	0.0040	0.0006	0.0028	0.0028	0.0031	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0007	0	0.0022	0.0014	0	0.0031	0	0.0047	0.0033	0.0008	0.003	0.68238	D	0.032	0.74150	D	0.979	0.59044	D	0.948	0.68536	D	0.000000	0.84330	D	0.046859	1	0.81001	D	1.86	0.49225	L	4.28	0.34050	T	-3.83	0.74051	D	0.36	0.44474	-0.9556	0.39988	T	0.163	0.49930	T	10	0.010209978	0.00228	T	0.013003	0.32054	T	0.277	0.59375	.	.	0.719660668505	0.71719	0.4683618608115827	0.46755	0.263756687781	0.28933	0.698439121246	0.66919	T	0.182108	0.53401	T	-0.472771	0.00817	T	-0.449822	0.27716	T	0.0334107398449504	0.02539	T	0.835616	0.51077	T	0.7180104	0.79051	0.6625154	0.80220	0.7180104	0.79052	0.6625154	0.80221	-6.355	0.49157	T	.	.	0.253	0.79060	B	.;.;.;.;.	.;.;.;.;.	5.184262	0.86933	29.1	0.99905551746587362	0.97651	0.97638	0.76075	D	AEFGBCI	0.914894	0.87890	D	0.624751732856405	0.74743	6.184916	0.663728929125817	0.79637	7.124625	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.31	5.31	0.75063	7.726000	0.83783	7.684000	0.65448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.174	0.93583	581	0.69614	MCM domain;.;.;MCM 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	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.1667	1999.06	33	chr6	52273751	.	C	T	1999.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.56;DP=293;ExcessHet=0.4139;FS=0.65;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=2.29;SOR=0.802	GT:AD:DP:GQ:PL	0/1:35,38:73:99:1045,0,974	4	0	2	0
chr6	52677136	52677136	G	A	exonic	TMEM14A	.	nonsynonymous SNV	TMEM14A:NM_014051:exon2:c.G34A:p.V12M	.	.	.	.	.	.	.	.	.	.	.	2238733	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.0299868119841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1441632488	7.525e-06	7.524e-06	4.084e-06	1.1e-05	4.472e-05	4.04e-06	2.95e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	7.194e-06	1.656e-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	0.001	0.78490	D	0.003	0.76473	D	0.989	0.62824	D	0.824	0.59271	P	0.017329	0.27751	N	0.347566	0.516196	0.31859	D	.	.	.	0.53	0.55090	T	-2.18	0.49187	N	0.601	0.61933	-0.8918	0.48775	T	0.137	0.45280	T	9	0.7447728	0.75209	D	0.029987	0.52391	D	0.243	0.54921	0.47	0.54376	0.503621591648	0.50000	0.6137690431717249	0.61308	0.263391581007	0.28895	0.547657251358	0.45527	T	0.24275	0.61154	T	-0.0179859	0.49139	T	-0.263612	0.48462	T	0.968863010406494	0.68389	D	0.910809	0.68393	D	0.25717863	0.48761	0.42845914	0.66559	0.25717863	0.48761	0.42845914	0.66559	-10.884	0.79018	D	.	.	0.189	0.40698	B	.	.	3.420655	0.47492	22.5	0.99877389397742233	0.95410	0.34217	0.25015	N	AEFBI	0.334892	0.43351	N	0.245636459226012	0.53423	3.511245	0.205991166882093	0.50179	3.212738	0.159052796218469	0.17564	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.08	2.16	0.26663	0.060000	0.14220	1.725000	0.28287	0.676000	0.76740	0.819000	0.29975	0.960000	0.29291	0.984000	0.60418	0.0683:0.1186:0.4472:0.3659	5.109	0.14134	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2464.06	45	chr6	52677136	.	G	A	2464.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.88;DP=428;ExcessHet=0.4139;FS=2.778;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=1.36;SOR=0.876	GT:AD:DP:GQ:PL	0/1:81,62:143:99:1454,0,1921	4	0	2	0
chr6	56060920	56060920	G	A	exonic	COL21A1	.	stopgain	COL21A1:NM_001318753:exon10:c.C517T:p.Q173X,COL21A1:NM_001318754:exon10:c.C394T:p.Q132X,COL21A1:NM_001318752:exon25:c.C2314T:p.Q772X,COL21A1:NM_030820:exon26:c.C2323T:p.Q775X,COL21A1:NM_001318751:exon27:c.C2323T:p.Q775X	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1461600298	2.103e-06	2.736e-06	2.791e-06	1.409e-06	6.459e-05	5.6e-07	1.6e-07	1.069e-05	4e-06	6.459e-05	0	0	0	0	0	9.09e-07	0	0	6.576e-06	6.568e-06	0	1.347e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.429856	0.12762	N	0.691913	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.216	0.24260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273629	0.80763	D	0.34181	0.89990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	7.614632	0.96693	36	0.99385120390151849	0.62068	0.78214	0.38555	D	AEFI	0.093378	0.18895	N	0.294023494790838	0.55844	3.748624	0.0747578197003908	0.43284	2.633338	0.0191527879412196	0.13134	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.9	3.1	0.34780	2.910000	0.48464	6.374000	0.55530	-0.113000	0.14837	0.774000	0.29403	0.995000	0.32472	0.600000	0.31387	0.0732:0.0:0.7876:0.1392	9.878	0.40382	803	0.44167	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1971.83	33	chr6	56060920	.	G	A	1971.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.457;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.891;SOR=0.656	GT:AD:DP:GQ:PL	0/1:62,79:141:99:1982,0,1678	5	0	1	0
chr6	56604966	56604966	C	G	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.G9029C:p.G3010A,DST:NM_001374722:exon40:c.G9662C:p.G3221A,DST:NM_001374734:exon40:c.G9689C:p.G3230A,DST:NM_001374736:exon40:c.G9662C:p.G3221A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	10	1504	7	1	0	9	0.0029831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00598693029503	0.0012	0.000599042	0.0016	0.0002	0.0012	0	0.0012	0.0017	0.0022	0.0032	0.0014812	229	154602	rs17674097	0.0011	0.0011	0.0011	0.0012	0.0040	0.0011	0.0011	0.0030	0.0029	5.982e-05	0.0011	0	0	0.0009	0.0040	0.0011	0.0010	0.0034	0.0011	0.0011	0.0010	0.0012	0.0030	0.0010	0.0009	0.0023	0.0020	0.0001	0.0044	0.0030	0	0	0.0005	0.0034	0.0014	0.0005	0.0023	0.047	0.51853	D	0.632	0.07150	T	0.043	0.21573	B	0.031	0.21939	B	0.466188	0.04899	N	1.346760	.	.	.	.	.	.	-0.32	0.71068	T	-1.21	0.30762	N	0.268	0.30347	-0.9959	0.31055	T	0.091	0.34874	T	8	0.0046438873	0.00097	T	0.005987	0.15638	T	0.042	0.11227	.	.	0.187035705434	0.18338	.	.	.	.	.	.	.	0.017515	0.14276	T	-0.51902	0.00446	T	-0.520418	0.20252	T	0.00173953245393932	0.00018	T	0.818818	0.47619	T	.	.	.	.	.	.	.	.	-3.239	0.12963	T	.	.	.	.	.	.;.	.;.	1.012404	0.13913	10.47	0.74517803341808286	0.10725	0.23977	0.22248	N	AEFBI	0.113929	0.22459	N	-1.11598807469329	0.06358	0.2924675	-1.1273375124459	0.07181	0.3483609	0.779969145464302	0.23823	0.744818	0.98587	0	0.487994	0.07600	2	0.670488	0.60580	0	0.76194	0.99817	0	.	.	5.42	1.53	0.22224	-0.079000	0.11321	0.518000	0.19139	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.522000	0.29520	0.146:0.4012:0.1337:0.3191	1.290	0.01934	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1613.83	35	chr6	56604966	.	C	G	1613.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.26;DP=356;ExcessHet=0;FS=0.611;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.306;SOR=0.627	GT:AD:DP:GQ:PL	0/1:94,59:153:99:1624,0,2652	5	0	1	0
chr6	56617066	56617066	G	A	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon24:c.C6401T:p.T2134M	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	2	1512	7	1	0	9	0.00296736	.	.	.	455679	DST-related_disorder|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	.|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00651452457279	0.0012	0.000599042	0.0016	0.0002	0.0013	0	0.0012	0.0017	0.0022	0.0032	0.0014877	230	154602	rs115983672	0.0011	0.0011	0.0011	0.0012	0.0040	0.0011	0.0011	0.0030	0.0029	5.975e-05	0.0011	0	0	0.0009	0.0040	0.0011	0.0010	0.0034	0.0011	0.0011	0.0010	0.0012	0.0031	0.0010	0.0009	0.0024	0.0021	0.0001	0.0044	0.0031	0	0	0.0005	0.0034	0.0014	0.0005	0.0021	0.094	0.31383	T	0.002	0.79402	D	0.133	0.27236	B	0.021	0.19346	B	.	.	.	.	.	.	.	.	.	.	-0.31	0.68030	T	-0.49	0.15578	N	0.162	0.17002	-1.0856	0.06298	T	0.071	0.29001	T	7	0.010834843	0.00239	T	0.006515	0.17157	T	0.040	0.10527	.	.	0.358880540497	0.35496	.	.	.	.	.	.	.	.	.	.	-0.529668	0.00386	T	-0.535713	0.18720	T	0.00277867791408453	0.00029	T	0.684232	0.29249	T	.	.	.	.	.	.	.	.	-5.014	0.36992	T	.	.	0.145	0.31882	B	.	.	2.171497	0.27671	17.54	0.98430764709703222	0.41397	0.87433	0.46971	D	AEFGBCI	0.417324	0.48541	N	-0.143972402260093	0.35492	2.039303	0.00828982560125277	0.40098	2.387731	0.955297194574701	0.28180	0.562547	0.31514	0	0.379588	0.06130	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.77	4.81	0.61401	2.541000	0.45394	6.589000	0.56020	-0.108000	0.15293	0.996000	0.39380	1.000000	0.68203	0.697000	0.34049	0.0758:0.0:0.7876:0.1366	9.590	0.38706	296	0.88164	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.011364	0.08333	989.83	35	chr6	56617066	.	G	A	989.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.87;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=1.31;SOR=0.749	GT:AD:DP:GQ:PL	0/1:31,32:63:99:1000,0,717	5	0	1	0
chr6	57053800	57053800	T	G	exonic	KIAA1586	.	nonsynonymous SNV	KIAA1586:NM_001286274:exon3:c.T1220G:p.I407R,KIAA1586:NM_001286275:exon4:c.T1100G:p.I367R,KIAA1586:NM_001286276:exon4:c.T1100G:p.I367R,KIAA1586:NM_020931:exon4:c.T1301G:p.I434R	.	474	1046	2	0	0	2	0.00095511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00574384298222	0.0024	0.000199681	0.0018	0.0008	0.0003	0	0.0003	0.0031	0.0012	0.0001	0.0001921	5	26028	rs202156522	0.0022	0.0021	0.0022	0.0021	0.0026	0.0021	0.0021	0.0026	0.0025	0.0002	0.0003	0.0003	0	0.0004	0.0019	0.0026	0.0022	4.033e-05	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0018	0.0016	0.0004	0	0.0003	0.0017	0	0.0002	0	0.0020	0.0009	0	0.001	0.78490	D	0.0	0.92824	D	0.95	0.53885	P	0.571	0.49890	P	.	.	.	.	0.938189	0.37217	D	1.59	0.40313	L	1.98	0.21865	T	-3.27	0.65512	D	0.557	0.58202	-1.0496	0.14509	T	0.018	0.07329	T	9	0.00900808	0.00204	T	0.005744	0.14892	T	0.162	0.41843	.	.	0.225215365344	0.22153	0.25390325512276285	0.25304	0.198000684834	0.22175	0.684002637863	0.64843	T	0.246186	0.61561	T	-0.378283	0.03194	T	-0.319518	0.42628	T	0.0234420556395789	0.01076	T	0.723028	0.33655	T	0.5359384	0.69168	0.63358927	0.78616	0.6210959	0.73823	0.5731603	0.75278	-9.909	0.73365	D	.	.	0.267	0.59661	B	.;.	.;.	3.495726	0.48888	22.7	0.98628936649213184	0.43879	0.71395	0.34994	D	AEBI	0.107344	0.21389	N	0.106491538475619	0.46764	2.911944	0.155753686333257	0.47448	2.974852	0.558440847750074	0.21393	0.651	0.46895	0	0.708844	0.79440	0	0.54472	0.12158	0	0.491896	0.07777	0	.	.	3.82	3.82	0.43153	1.123000	0.30922	1.140000	0.24397	0.587000	0.30956	0.545000	0.27306	0.694000	0.26193	0.998000	0.85391	0.0:0.0:0.0:1.0	9.154	0.36144	282	0.88846	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001523	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.000000	0.1667	676.07	13	chr6	57053800	.	T	G	676.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.48;DP=133;ExcessHet=0.4139;FS=5.351;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.609;SOR=1.773	GT:AD:DP:GQ:PL	0/1:14,14:28:99:386,0,343	4	0	2	0
chr6	65344041	65344041	T	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_198283:exon9:c.A1596C:p.K532N,EYS:NM_001142800:exon10:c.A1596C:p.K532N,EYS:NM_001142801:exon10:c.A1596C:p.K532N,EYS:NM_001292009:exon10:c.A1596C:p.K532N	Retinitis pigmentosa 25	10	1490	19	3	0	25	0.00831947	.	.	.	710583	not_provided|Retinitis_pigmentosa|Retinitis_pigmentosa_25	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	0.0083	0.00259585	0.0068	0.0011	0.0019	0	0.0031	0.0109	0.0088	0.0018	0.007018	1085	154602	rs61753611	0.0097	0.0098	0.0100	0.0095	0.0115	0.0096	0.0095	0.0113	0.0113	0.0010	0.0028	0.0140	2.525e-05	0.0051	0.0053	0.0115	0.0084	0.0012	0.0071	0.0071	0.0074	0.0067	0.0112	0.0067	0.0066	0.0105	0.0102	0.0019	0.0330	0.0050	0.0139	0.0002	0.0047	0.0204	0.0112	0.0090	0.0017	0.239	0.17761	T	0.161	0.31326	T	0.246	0.31102	B	0.035	0.24832	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	-1.5	0.81318	D	0.6	0.14390	N	0.243	0.27435	-1.0342	0.19109	T	0.098	0.36625	T	9	0.0044945776	0.00092	T	.	.	.	0.047	0.12962	0.449	0.50957	0.110078149338	0.10416	0.23494252369575014	0.23409	0.0100119887689	0.00916	0.215253651142	0.01054	T	0.017918	0.14537	T	-0.549341	0.00294	T	-0.55019	0.17309	T	0.00412558134519826	0.00044	T	0.456654	0.13107	T	0.044149835	0.07007	0.05097871	0.08110	0.042527467	0.06467	0.05097871	0.08110	-3.118	0.12726	T	0.153488012199202	0.18260	0.234	0.50871	B	.;.;.;.	.;.;.;.	0.098160	0.05004	1.558	0.55313910472509453	0.05316	0.02315	0.06641	N	AEFI	0.047262	0.07940	N	-1.16824113892233	0.05486	0.2502346	-1.26494320617993	0.04913	0.232905	7.59859653809289E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.1	-3.87	0.03939	-0.006000	0.12769	-2.928000	0.03221	0.602000	0.45918	0.001000	0.13787	0.000000	0.08366	0.053000	0.15439	0.1407:0.2333:0.0:0.626	4.660	0.12023	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005045	0.000000	0.006793	0.000000	0.000000	0.000000	0.009202	0.007576	0.1667	745.06	33	chr6	65344041	.	T	G	745.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.277;DP=214;ExcessHet=0.4139;FS=0.853;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.729;SOR=0.813	GT:AD:DP:GQ:PL	0/1:16,19:35:99:444,0,357	4	0	2	0
chr6	72179813	72179813	C	T	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_014989:exon5:c.C710T:p.A237V	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00427153001029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.883	0.06802	T	0.278	0.21812	T	0.001	0.07471	B	0.002	0.06944	B	0.196545	0.16709	N	0.567650	1	0.08975	N	0.55	0.14455	N	2.5	0.14408	T	0.34	0.04306	N	0.072	0.05670	-0.9186	0.45743	T	0.006	0.01944	T	10	0.045544058	0.03638	T	0.004272	0.10341	T	0.098	0.28162	0.208	0.12497	0.275641507738	0.27180	0.14208153262139106	0.14131	0.590832157368	0.54534	0.294756650925	0.09622	T	0.090619	0.38623	T	-0.367403	0.03728	T	-0.765526	0.02918	T	0.0843945846523954	0.10539	T	0.858314	0.54891	D	0.041004363	0.05958	0.03576335	0.02890	0.041004363	0.05958	0.03576335	0.02889	-5.1	0.37908	T	.	.	0.068	0.02733	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.425140	0.18423	13.73	0.99604324593518423	0.74397	0.15967	0.19167	N	AEFBI	0.120250	0.23433	N	-0.92941261692333	0.10159	0.484132	-0.916498879231875	0.11704	0.5979567	1.40056249126253E-5	0.02871	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.530356	0.10902	0	.	.	5.65	1.16	0.19936	1.284000	0.32855	0.808000	0.21724	0.599000	0.40250	0.188000	0.24163	0.001000	0.17328	0.021000	0.11733	0.1614:0.3961:0.1603:0.2822	1.234	0.01832	858	0.34001	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3000.06	40	chr6	72179813	.	C	T	3000.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.586;DP=385;ExcessHet=0.4139;FS=1.688;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.249;SOR=0.841	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1506,0,1232	4	0	2	0
chr6	83137607	83137607	C	G	exonic	DOP1A	.	nonsynonymous SNV	DOP1A:NM_001199942:exon21:c.C3538G:p.P1180A,DOP1A:NM_015018:exon21:c.C3565G:p.P1189A	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00422702838858	0.0025	0.000599042	0.0021	0.0010	0.0010	0	0.0002	0.0032	0	0.0007	0.0022121	342	154602	rs41271565	0.0030	0.0030	0.0031	0.0030	0.0037	0.0030	0.0029	0.0036	0.0036	0.0007	0.0009	7.656e-05	0	0.0005	0.0035	0.0037	0.0027	0.0009	0.0021	0.0021	0.0021	0.0020	0.0037	0.0019	0.0018	0.0033	0.0032	0.0008	0	0.0012	0	0	0.0004	0	0.0037	0.0024	0.0010	0.7	0.04175	T	0.686	0.05995	T	0.001	0.07471	B	0.001	0.04355	B	0.445347	0.12575	N	0.766287	0.999999	0.08975	N	0	0.06538	N	2.02	0.21119	T	-0.52	0.16187	N	0.109	0.09490	-1.0087	0.27323	T	0.010	0.03856	T	10	0.004528582	0.00093	T	0.004227	0.10216	T	0.079	0.23065	.	.	0.0675242888579	0.06100	0.14800445454405992	0.14722	0.247262330812	0.27269	0.203201383352	0.00556	T	0.01737	0.14185	T	-0.617599	0.00114	T	-0.653376	0.08720	T	0.00792398646503796	0.00093	T	0.616838	0.23625	T	0.04543361	0.07435	0.03600634	0.02962	0.04543361	0.07434	0.03600634	0.02962	-2.997	0.10149	T	.	.	0.062	0.01290	B	.;.;.	.;.;.	-0.250413	0.02843	0.398	0.10614543619274894	0.00138	0.37718	0.25825	N	AEFGBI	0.073573	0.14721	N	-0.957212187953559	0.09531	0.4515175	-0.879618821710344	0.12577	0.6477804	0.646595562477157	0.22113	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.8	4.91	0.63897	0.350000	0.19818	-0.107000	0.11873	0.549000	0.26987	0.022000	0.19841	0.000000	0.08366	0.026000	0.12556	0.3329:0.5927:0.0:0.0744	8.165	0.30380	671	0.60868	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	4256.06	35	chr6	83137607	.	C	G	4256.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.39;DP=474;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.38;SOR=0.689	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1779,0,1655	4	0	2	0
chr6	99400939	99400939	T	C	exonic	PNISR	.	nonsynonymous SNV	PNISR:NM_001322415:exon10:c.A1965G:p.I655M,PNISR:NM_001322408:exon11:c.A2019G:p.I673M,PNISR:NM_001322413:exon11:c.A2019G:p.I673M,PNISR:NM_001322414:exon11:c.A1965G:p.I655M,PNISR:NM_015491:exon11:c.A2019G:p.I673M,PNISR:NM_001322405:exon12:c.A2019G:p.I673M,PNISR:NM_001322410:exon12:c.A2019G:p.I673M,PNISR:NM_001322412:exon12:c.A2019G:p.I673M,PNISR:NM_032870:exon12:c.A2019G:p.I673M,PNISR:NM_001322406:exon13:c.A2019G:p.I673M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00089583667361	.	.	8.623e-06	0	0	0	0	0	0	6.103e-05	6.5e-06	1	154602	rs745756973	2.806e-06	4.106e-06	1.401e-06	4.217e-06	2.342e-05	6.6e-07	4.4e-07	3.89e-06	1.46e-06	0	0	0	0	0	0	1.853e-06	0	2.342e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.222	0.25748	T	0.0	0.02946	B	0.001	0.04355	B	0.024485	0.26253	N	0.406210	0.943383	0.26723	N	0.345	0.11182	N	.	.	.	0.15	0.05310	N	0.174	0.19190	-1.0761	0.08124	T	0.026	0.11264	T	9	0.06817421	0.09605	T	8.96E-4	0.00822	T	0.067	0.19503	0.202	0.11659	0.128874641272	0.12493	0.020055680148224803	0.01958	0.683117949677	0.60146	0.423679202795	0.28343	T	0.005302	0.04751	T	-0.274855	0.11221	T	-0.531956	0.19092	T	0.598149597644806	0.36327	D	0.716728	0.32905	T	0.08117546	0.18637	0.06394933	0.12744	0.08117546	0.18637	0.06394933	0.12743	-4.944	0.36226	T	.	.	0.069	0.03197	B	.;.;.	.;.;.	2.983759	0.39806	21.0	0.89416897640252058	0.18778	0.91832	0.54359	D	AEFBI	0.387719	0.46759	N	-0.206825806377217	0.32852	1.857437	0.0402837961785656	0.41604	2.502335	0.199872384628294	0.18109	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	1.207000	0.31938	6.048000	0.53069	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0712:0.0:0.9288	10.637	0.44765	560	0.71333	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2676.06	33	chr6	99400939	.	T	C	2676.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.359;DP=355;ExcessHet=0.4139;FS=1.68;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.161;SOR=0.824	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1205,0,1529	4	0	2	0
chr6	99408128	99408128	C	T	exonic	PNISR	.	nonsynonymous SNV	PNISR:NM_001322408:exon6:c.G817A:p.D273N,PNISR:NM_001322413:exon6:c.G817A:p.D273N,PNISR:NM_001322415:exon6:c.G817A:p.D273N,PNISR:NM_015491:exon6:c.G817A:p.D273N,PNISR:NM_001322405:exon7:c.G817A:p.D273N,PNISR:NM_001322410:exon7:c.G817A:p.D273N,PNISR:NM_001322412:exon7:c.G817A:p.D273N,PNISR:NM_001322414:exon7:c.G817A:p.D273N,PNISR:NM_001322416:exon7:c.G817A:p.D273N,PNISR:NM_032870:exon7:c.G817A:p.D273N,PNISR:NM_001322406:exon8:c.G817A:p.D273N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00853897201673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.38	0.15988	T	0.062	0.23277	B	0.032	0.22131	B	0.002625	0.36208	N	0.350964	0.860538	0.35380	D	0.345	0.11182	N	0.95	0.43279	T	-1.52	0.36980	N	0.169	0.18649	-1.0994	0.04164	T	0.038	0.16290	T	10	0.089983374	0.15635	T	0.008539	0.22581	T	0.119	0.33137	0.076	0.00544	0.134007934775	0.12933	0.29186678848707365	0.29099	0.605192365814	0.55423	0.523288309574	0.42090	T	0.006826	0.06256	T	-0.319439	0.06943	T	-0.696629	0.06012	T	0.422993396354969	0.29801	T	0.931007	0.74365	D	0.08693965	0.20227	0.09955106	0.23774	0.08693965	0.20226	0.09955106	0.23773	-5.101	0.37918	T	.	.	0.091	0.13080	B	.;.;.	.;.;.	3.534556	0.49613	22.8	0.99730863417291438	0.82761	0.96635	0.70135	D	AEFBI	0.438421	0.49782	N	-0.0683125236144049	0.38789	2.277232	0.160199806132591	0.47683	2.995027	0.999999905229237	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	2.249000	0.42821	7.719000	0.67224	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.1416:0.8584:0.0:0.0	15.105	0.71982	538	0.73119	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	242.83	45	chr6	99408128	.	C	T	242.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.838;DP=248;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.958;SOR=0.28	GT:AD:DP:GQ:PL	0/1:25,12:37:99:253,0,526	5	0	1	0
chr6	108912478	108912478	A	T	exonic	ARMC2	.	nonsynonymous SNV	ARMC2:NM_001286609:exon9:c.A775T:p.I259L,ARMC2:NM_032131:exon10:c.A1270T:p.I424L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0049788688869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238407662	1.368e-06	1.368e-06	2.723e-06	0	4.473e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.473e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.323128	0.14237	N	0.730123	1	0.08975	N	-0.755	0.01709	N	0.94	0.43672	T	0.17	0.05125	N	0.085	0.09631	-0.9611	0.38974	T	0.009	0.03403	T	10	0.027595788	0.00903	T	0.004979	0.12566	T	0.021	0.04004	0.37	0.38013	0.0884992946249	0.08302	0.12113947983993541	0.12040	0.126505603577	0.14259	0.313809752464	0.12482	T	0.015431	0.12947	T	-0.457232	0.01023	T	-0.718712	0.04859	T	0.0221823257951889	0.00930	T	0.518948	0.16858	T	0.04276034	0.06543	0.040126063	0.04266	0.04276034	0.06543	0.040126063	0.04266	-3.653	0.18627	T	.	.	0.063	0.02765	B	.;.	.;.	0.154422	0.05459	1.929	0.63160350910069829	0.07150	0.03132	0.08084	N	AEI	0.042877	0.06708	N	-1.52914311048747	0.01660	0.07264051	-1.52108191180291	0.02182	0.099983	0.126194696614747	0.16994	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.88	-7.07	0.01409	-0.592000	0.05841	0.428000	0.18294	-0.050000	0.17177	0.001000	0.13787	0.002000	0.18203	0.882000	0.42233	0.1441:0.3818:0.3397:0.1344	4.106	0.09508	680	0.59965	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1284.83	34	chr6	108912478	.	A	T	1284.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.823;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-1.572;SOR=0.688	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1295,0,927	5	0	1	0
chr6	123255885	123255885	G	A	exonic	TRDN	.	nonsynonymous SNV	TRDN:NM_006073:exon36:c.C1888T:p.H630Y	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	705	816	1	0	0	1	0.00061237	.	.	.	1835407	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00817966026239	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232183760	0	3.429e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.132	0.34477	T	0.981	0.59675	D	0.932	0.66722	D	0.112208	0.19367	U	0.319694	1	0.08975	N	0.695	0.17993	N	2.25	0.17761	T	-0.21	0.10308	N	0.251	0.28381	-1.0728	0.08808	T	0.021	0.09056	T	10	0.16253504	0.30458	T	0.00818	0.21674	T	0.076	0.22200	0.18	0.08751	0.184867976434	0.18130	0.03670711926401643	0.03617	.	.	0.49461466074	0.38079	T	0.087526	0.37962	T	-0.251116	0.13962	T	-0.598487	0.12939	T	0.510891616344452	0.33030	D	0.454955	0.12997	T	0.06300634	0.13221	0.07904067	0.17760	0.06300634	0.13221	0.07904067	0.17759	-5.968	0.46011	T	0.5628100957228303	0.63045	0.098	0.16275	B	.	.	0.860018	0.12326	8.864	0.69641629740347788	0.09038	0.04015	0.09445	N	AEFI	0.040582	0.06057	N	-0.371087619648353	0.26504	1.447016	-0.578153888538055	0.20064	1.079277	1.56945852857772E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.74	1.87	0.24559	0.679000	0.24971	3.528000	0.38937	0.676000	0.76740	0.043000	0.21118	0.628000	0.25851	0.041000	0.14368	0.1594:0.0:0.8406:0.0	5.335	0.15257	899	0.25060	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	105.92	8	chr6	123255885	.	G	A	105.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.981;DP=47;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.366;SOR=1.022	GT:AD:DP:GQ:PL	0/1:2,5:7:61:116,0,61	5	0	1	0
chr6	131950887	131950887	G	C	exonic	CCN2	.	nonsynonymous SNV	CCN2:NM_001901:exon2:c.C172G:p.R58G	.	1	1484	35	2	0	39	0.0129697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	.	0.00179712	0.0058	0	0	0	.	0.0114	0	0.0043	0.0008279	128	154602	rs111779788	0.0029	0.0028	0.0029	0.0030	0.0098	0.0028	0.0028	0.0074	0.0066	0.0004	0.0025	0.0079	0	0.0042	0.0098	0.0027	0.0042	0.0043	0.0023	0.0023	0.0022	0.0025	0.0037	0.0021	0.0020	0.0024	0.0023	0.0005	0	0.0027	0.0063	0.0004	0.0050	0.0034	0.0028	0.0024	0.0037	0.033	0.44358	D	0.058	0.46182	T	0.948	0.53620	P	0.804	0.58350	P	0.000055	0.53742	D	0.113091	0.612338	0.30850	N	2.945	0.84822	M	0.3	0.58755	T	-3.43	0.67359	D	0.543	0.57006	-0.7450	0.58195	T	0.196	0.55056	T	10	0.013961047	0.00294	T	.	.	.	0.323	0.64522	.	.	0.796444336488	0.79454	0.4768576801871693	0.47605	1.47171924055	0.86544	0.900508642197	0.96497	D	0.337636	0.70700	T	-0.260269	0.12869	T	-0.146779	0.59528	T	0.0537744793132564	0.06151	T	0.946505	0.79528	D	0.7260425	0.79500	0.6255168	0.78171	0.7260425	0.79502	0.6255168	0.78172	-11.85	0.84113	D	.	.	0.228	0.45990	B	.	.	4.691501	0.75173	26.3	0.99747779445746043	0.84002	0.57040	0.30273	D	ALL	0.599166	0.59229	D	0.170819427394724	0.49802	3.176582	0.0928453673664277	0.44187	2.705418	0.999999897586289	0.74766	0.542737	0.22433	0	0.59043	0.45803	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	5.1	3.05	0.34272	0.429000	0.21131	6.921000	0.56929	0.586000	0.30580	0.215000	0.24480	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.6052:0.3948	13.400	0.60323	435	0.80441	Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor binding protein, N-terminal, Cys-rich conserved site|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007437	0.000000	0.003030	0.015924	0.000000	0.000000	0.019380	0.004310	0.1667	492.06	37	chr6	131950887	.	G	C	492.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.324;DP=182;ExcessHet=0.4139;FS=4.073;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=0.61;SOR=1.333	GT:AD:DP:GQ:PL	0/1:20,7:27:99:112,0,505	4	0	2	0
chr6	150065985	150065985	C	T	exonic	ULBP3	.	nonsynonymous SNV	ULBP3:NM_024518:exon2:c.G266A:p.G89E	.	420	1099	3	0	0	3	0.00136302	.	.	.	2365530	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.00079006982937	0.0002	0.000399361	4.943e-05	0	8.639e-05	0	0	5.994e-05	0	6.056e-05	5.82e-05	9	154602	rs137927077	8.414e-05	8.414e-05	8.167e-05	8.663e-05	0.0023	7.203e-05	6.75e-05	0.0013	0.0011	0	0.0004	0	0	0	0.0023	6.834e-05	0.0001	9.275e-05	0.0002	0.0002	0.0002	0.0001	0.0011	0.0001	9.695e-05	0.0007	0.0006	0	0	0.0011	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	6.14	0.00582	T	2.31	0.00287	N	0.116	0.10483	-1.0122	0.26228	T	0.000	0.00075	T	9	0.0123307705	0.00265	T	7.9E-4	0.00608	T	0.008	0.00669	.	.	0.158396225186	0.15383	0.08141530594845617	0.08076	0.180957177562	0.20352	0.225331068039	0.01641	T	0.002646	0.02035	T	-0.586151	0.00177	T	-0.773765	0.02646	T	0.0172597464117458	0.00468	T	0.362864	0.08399	T	0.05229743	0.09732	0.044724956	0.05858	0.05229743	0.09731	0.044724956	0.05858	-3.59	0.17713	T	.	.	0.092	0.13597	B	.;.	.;.	-1.213674	0.00517	0.012	0.3308138630107727	0.01952	0.00030	0.00276	N	AEFDBI	0.015611	0.00307	N	-1.70814087711651	0.00813	0.03516196	-1.68426287449678	0.01208	0.05441175	0.62687469018617	0.21934	0.732398	0.92422	0	0.59043	0.45803	0	0.667671	0.60360	0	0.727631	0.95156	0	.	.	3.49	-2.06	0.06894	-1.724000	0.01964	-14.301000	0.00411	-0.403000	0.05289	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3644:0.1963:0.4393	4.019	0.09145	330	0.86467	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1538.83	43	chr6	150065985	.	C	T	1538.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.541;DP=331;ExcessHet=0;FS=2.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=1.19;SOR=0.775	GT:AD:DP:GQ:PL	0/1:70,64:134:99:1549,0,1776	5	0	1	0
chr6	151351365	151351365	G	A	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.G2659A:p.E887K,AKAP12:NM_144497:exon2:c.G2680A:p.E894K,AKAP12:NM_005100:exon4:c.G2974A:p.E992K	.	425	1091	6	0	0	6	0.00274223	.	.	.	2220478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0266731597487	0.0004	0.000199681	0.0001	9.649e-05	0	0	0	0.0001	0	0.0005	0.0001488	23	154602	rs199808949	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	2.987e-05	6.708e-05	0	0	3.744e-05	0.0003	0.0002	0.0002	0.0007	9.191e-05	9.186e-05	0.0001	8.055e-05	0.0006	5.523e-05	4.361e-05	0.0002	9.007e-05	0	0	0	0	0	0	0	0.0002	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.917	0.70672	D	0.000571	0.43250	D	0.000000	0.991014	0.43409	D	1.995	0.54099	M	2.49	0.14531	T	-2.96	0.61722	D	0.306	0.41261	-1.1459	0.01153	T	0.059	0.24834	T	10	0.11716986	0.22121	T	0.026673	0.49557	D	0.212	0.50341	.	.	0.415820034956	0.41198	0.3295275381166397	0.32865	0.729540741836	0.62671	0.53716892004	0.44046	T	0.336352	0.70587	T	-0.334576	0.05773	T	-0.347286	0.39515	T	0.570143699645996	0.35240	D	0.958004	0.84234	D	0.46357945	0.64893	0.5300753	0.72847	0.46357945	0.64894	0.5300753	0.72848	-4.5	0.32372	T	.	.	0.181	0.45086	B	.;.;.;.	.;.;.;.	4.327622	0.66282	24.9	0.99927080756835429	0.99163	0.75454	0.36944	D	AEFDBCI	0.239943	0.36182	N	0.500865713505945	0.67141	5.042291	0.419803919429386	0.62799	4.501657	0.99982494547127	0.43622	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.92	4.04	0.46262	3.473000	0.52886	10.466000	0.83362	0.676000	0.76740	0.984000	0.35821	1.000000	0.68203	0.041000	0.14368	0.0769:0.0:0.9231:0.0	13.489	0.60837	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1419.83	75	chr6	151351365	.	G	A	1419.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.47;DP=466;ExcessHet=0;FS=1.449;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.349;SOR=0.841	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1430,0,1498	5	0	1	0
chr6	160537897	160537897	C	T	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon37:c.G5800A:p.A1934T	.	0	1513	9	0	0	9	0.0029654	.	.	.	2353278	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.0252565184996	0.0002	0.000399361	0.0003	0	0.0004	0	0	0.0002	0.0011	0.0010	0.0002329	36	154602	rs189377046	0.0001	0.0001	0.0001	0.0002	0.0011	0.0001	0.0001	0.0009	0.0008	5.974e-05	0.0004	0.0006	2.519e-05	0	0.0010	5.126e-05	0.0004	0.0011	9.189e-05	9.842e-05	6.423e-05	0.0001	0.0004	5.522e-05	4.36e-05	7.285e-05	3.027e-05	0	0	0.0001	0.0012	0	0	0	8.819e-05	0	0.0004	0.39	0.10838	T	0.148	0.32675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.51	0.89293	D	-0.68	0.19509	N	0.122	0.11340	-0.4105	0.71695	T	0.509	0.81532	D	9	0.024210155	0.00658	T	0.025257	0.48235	D	0.214	0.50650	.	.	0.367992661779	0.36405	0.21937990519083445	0.21853	.	.	0.354436695576	0.18573	T	.	.	.	-0.322152	0.06723	T	-0.291873	0.45577	T	0.0529448426767918	0.06009	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41264	B	.	.	1.663584	0.21216	15.10	0.95477511157285033	0.27034	0.04284	0.09825	N	AEFBI	0.100794	0.20258	N	-0.364883720751343	0.26730	1.461	-0.581473992145408	0.19977	1.07421	4.4137276339742E-4	0.07004	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.62	1.73	0.23565	2.306000	0.43333	1.420000	0.26356	0.306000	0.19039	0.471000	0.26730	0.087000	0.22477	0.000000	0.00833	0.0:0.8698:0.0:0.1302	7.576	0.27106	707	0.57054	.	.	.	.	.	.	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1137.83	33	chr6	160537897	.	C	T	1137.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.588;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.315;SOR=0.691	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1148,0,1445	5	0	1	0
chr6	160601064	160601064	G	A	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon19:c.C2980T:p.P994S	.	0	1518	3	1	0	5	0.0016442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00530301484674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.09746	T	0.179	0.29540	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.12	0.87830	T	-0.83	0.22727	N	0.14	0.13911	-1.0153	0.25240	T	0.067	0.27708	T	9	0.12976071	0.24691	T	0.005303	0.13556	T	0.169	0.43123	.	.	0.213573922156	0.20996	0.42694985385214257	0.42611	0.0700158727979	0.07844	0.70603531599	0.68019	T	.	.	.	-0.152737	0.27883	T	-0.457173	0.26907	T	0.109462075570179	0.13367	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.42491	B	.;.	.;.	0.248071	0.06276	2.732	0.37581897395792507	0.02485	0.02550	0.07077	N	AEFBI	0.051271	0.09043	N	-0.620552721388175	0.18327	0.9506306	-0.782565660496554	0.14922	0.7822511	2.3288168792104E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.31	1.39	0.21325	0.548000	0.23022	0.130000	0.15034	-1.793000	0.00635	0.063000	0.21864	0.000000	0.08366	0.002000	0.04165	0.0:0.6848:0.3152:0.0	6.618	0.21982	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	637.83	36	chr6	160601064	.	G	A	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=258;ExcessHet=0;FS=3.285;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.248;SOR=1.131	GT:AD:DP:GQ:PL	0/1:48,28:76:99:648,0,1177	5	0	1	0
chr6	167969811	167969811	G	A	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001207008:exon32:c.G5108A:p.G1703E,AFDN:NM_001291964:exon33:c.G5222A:p.G1741E,AFDN:NM_001366319:exon33:c.G5345A:p.G1782E,AFDN:NM_001366320:exon33:c.G5351A:p.G1784E,AFDN:NM_001366321:exon33:c.G5330A:p.G1777E	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	.	0.0041	0.00299521	0.0010	0.0115	0.0003	0	0	0	0.0011	0	0.000912	141	154602	rs6921553	0.0003	0.0004	0.0004	0.0003	0.0117	0.0003	0.0003	0.0108	0.0104	0.0117	0.0009	0	0	0	0.0010	1.26e-05	0.0010	0	0.0036	0.0037	0.0034	0.0039	0.0126	0.0034	0.0033	0.0117	0.0114	0.0126	0	0.0014	0	0	0	0	2.94e-05	0.0033	0	0.003	0.91255	D	0.327	0.30729	T	0.998	0.73220	D	0.941	0.67658	D	0.001674	0.38326	N	0.168410	0.999743	0.48716	D	2.215	0.62545	M	3.66	0.04746	T	-1.65	0.45404	N	0.505	0.78356	-0.7326	0.58832	T	0.225	0.58894	T	10	0.0068939924	0.00157	T	.	.	.	0.153	0.40148	.	.	0.123314135267	0.11883	0.21570064282913454	0.21486	.	.	0.517325758934	0.41250	T	0.025764	0.75362	T	-0.434133	0.01400	T	-0.385347	0.35095	T	0.0535833403493452	0.06118	T	0.846715	0.53247	T	0.24028657	0.46930	0.3911136	0.63890	0.24028657	0.46930	0.3911136	0.63890	-4.801	0.34603	T	.	.	0.226	0.46097	B	.;.;.;.;.	.;.;.;.;.	4.632781	0.73682	26.0	0.99761699449945063	0.85091	0.99633	0.98183	D	AEFDBI	0.927376	0.90994	D	0.450226543643914	0.64217	4.67118	0.501157152101135	0.68070	5.169396	0.999996845962803	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	8.925000	0.92380	11.623000	0.93636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.224	0.93795	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	915.06	33	chr6	167969811	.	G	A	915.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.183;DP=189;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.485;SOR=0.746	GT:AD:DP:GQ:PL	0/1:25,21:46:99:486,0,657	4	0	2	0
chr6	167976307	167976307	G	C	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C346G:p.P116A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0073	0	0	0	0	0	0	9.06e-05	14	154602	rs71573433	0	1.392e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.872e-05	0.0002	7.356e-05	0.0001	0.0004	5.797e-05	4.532e-05	0.0002	0.0002	0.0004	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	1045.19	47	chr6	167976307	.	G	C	1045.19	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.593;DP=236;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=55.4;MQRankSum=-1.515;QD=16.59;ReadPosRankSum=0.448;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,16:16:48:1|1:167976273_A_C:690,48,0:167976273	4	1	1	0
chr6	167976415	167976498	GGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTT	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.155_238del:p.Q52_S79del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0001	0.0002	0.0020	0.0001	0.0001	0.0016	0.0014	7.263e-05	0.0008	0.0004	0	0.0004	0.0004	5.461e-05	0.0002	0.0020	0.0033	0.0055	0.0034	0.0032	0.0116	0.0030	0.0029	0.0083	0.0072	0.0045	0.0032	0.0045	0.0018	0.0116	0.0029	0.0054	0.0021	0.0027	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	35.86	53	chr6	167976414	.	GGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTT	G	35.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=45.89;MQRankSum=0.431;QD=11.95;ReadPosRankSum=0.967;SOR=1.609	GT:AD:DP:GQ:PL	0/1:2,1:3:46:46,0,74	5	0	1	0
chr6	167976497	167976497	T	0	exonic	HGC6.3	.	.	.	.	599	835	31	1	56	89	0.0193776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	53.88	40	chr6	167976497	.	T	*	53.88	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.67;DP=192;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.1;MQ=53.78;MQRankSum=-1.985;QD=2.07;ReadPosRankSum=0.579;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,1:3:46:.:.:46,0,74:.	4	0	1	1
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2681.43	64	chr6	170561964	.	G	*	2681.43	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-2.577;DP=819;ExcessHet=0.1336;FS=3.859;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.92;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,36:101:99:1|0:170561949_GCAA_G:1267,0,2513:170561949	1	1	3	1
chr7	985245	985245	C	-	exonic	CYP2W1	.	frameshift deletion	CYP2W1:NM_017781:exon4:c.567delC:p.Y190Tfs*55	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	473.79	34	chr7	985244	.	AC	A	473.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=195;ExcessHet=0;FS=1.69;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.55;ReadPosRankSum=-0.267;SOR=1.179	GT:AD:DP:GQ:PL	0/1:13,14:27:99:484,0,444	5	0	1	0
chr7	19772542	19772542	C	A	exonic	TMEM196	.	nonsynonymous SNV	TMEM196:NM_001366625:exon1:c.G155T:p.S52I,TMEM196:NM_001366626:exon1:c.G155T:p.S52I	.	.	.	.	.	.	.	.	0.9910	0.886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	62.83	21	chr7	19772542	.	C	A	62.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.55;DP=137;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=0.159;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,3:20:73:0|1:19772542_C_A:73,0,692:19772542	5	0	1	0
chr7	19772544	19772544	C	A	exonic	TMEM196	.	nonsynonymous SNV	TMEM196:NM_001366625:exon1:c.G153T:p.W51C,TMEM196:NM_001366626:exon1:c.G153T:p.W51C	.	.	.	.	.	.	.	.	0.9596	0.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	62.83	21	chr7	19772544	.	C	A	62.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.748;DP=139;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.14;ReadPosRankSum=-0.053;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,3:20:73:0|1:19772542_C_A:73,0,692:19772542	5	0	1	0
chr7	27095361	27095361	G	T	exonic	HOXA1	.	nonsynonymous SNV	HOXA1:NM_005522:exon1:c.C552A:p.H184Q	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	0	1520	2	0	0	2	0.000657462	.	.	.	311028	Bosley-Salih-Alorainy_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0019075,MedGen:C1832216,Orphanet:69737|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0044979287642	.	.	4.118e-05	0	8.637e-05	0	0	5.993e-05	0	0	3.23e-05	5	154602	rs768265195	2.805e-05	2.805e-05	2.45e-05	3.163e-05	0.0001	2.086e-05	1.878e-05	5.804e-05	3.952e-05	2.987e-05	0.0001	0.0003	0	0	0	1.978e-05	3.312e-05	1.159e-05	3.289e-05	3.284e-05	5.144e-05	1.346e-05	6.547e-05	1.262e-05	7.99e-06	4.88e-06	1.83e-06	0	0	6.547e-05	0.0006	0	0	0	2.941e-05	0	0	0.465	0.08609	T	0.859	0.03418	T	.	.	.	.	.	.	0.002036	0.37411	N	0.318098	0.998554	0.81001	D	.	.	.	1.43	0.32958	T	-0.72	0.20358	N	0.27	0.30574	-1.0513	0.14036	T	0.040	0.17020	T	10	0.099491656	0.18059	T	0.004498	0.11063	T	0.075	0.21907	0.192	0.10304	0.627475323314	0.62443	0.7135965389314167	0.71302	1.13161604598	0.78638	0.688727557659	0.65524	T	.	.	.	-0.347264	0.04901	T	-0.467297	0.25807	T	0.0607257083807729	0.07282	T	0.750425	0.37198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24867	B	.;.	.;.	4.810428	0.78248	26.9	0.88477973524149045	0.18008	0.71350	0.34975	D	AEFDBCI	.	.	.	-0.245041859940611	0.31302	1.753797	-0.0526498198919395	0.37376	2.187581	0.99999739151433	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.616487	0.41570	0	0.375	0.06713	1	.	.	5.01	4.05	0.46415	1.429000	0.34511	9.719000	0.81359	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1816:0.2144:0.604:0.0	4.187	0.09863	440	0.80101	.;.	.	.	.	.	.	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	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2043.06	35	chr7	27095361	.	G	T	2043.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.14;DP=327;ExcessHet=0.4139;FS=1.186;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.28;SOR=0.57	GT:AD:DP:GQ:PL	0/1:50,32:82:99:807,0,1270	4	0	2	0
chr7	36870425	36870425	T	C	exonic	ELMO1	.	nonsynonymous SNV	ELMO1:NM_001039459:exon5:c.A433G:p.M145V,ELMO1:NM_130442:exon5:c.A433G:p.M145V,ELMO1:NM_001206480:exon20:c.A1873G:p.M625V,ELMO1:NM_001206482:exon20:c.A1873G:p.M625V,ELMO1:NM_014800:exon20:c.A1873G:p.M625V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.0107805417457	.	.	8.246e-06	9.617e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs776767360	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.252	0.23570	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.725	0.44537	L	0.93	0.44065	T	-1.85	0.43334	N	0.697	0.70175	-1.0613	0.11434	T	0.074	0.29960	T	10	0.46944326	0.59771	T	0.010781	0.27705	T	0.241	0.54641	0.424	0.46857	0.706560917885	0.70400	0.5539153075321251	0.55317	0.771881204982	0.64809	0.86879324913	0.92395	D	0.199479	0.55677	T	-0.082046	0.39383	T	-0.174102	0.57067	T	0.390660228325564	0.28589	T	0.874613	0.58533	D	0.32792452	0.55301	0.29452005	0.55483	0.32792452	0.55301	0.29452005	0.55482	-8.394	0.66348	D	.	.	0.120	0.46144	B	.;.;.;.;.	.;.;.;.;.	4.041693	0.59845	24.1	0.96035681880669921	0.28518	0.98789	0.86875	D	AEFBI	0.864646	0.78351	D	-0.0952207724873101	0.37601	2.189988	0.131533391871464	0.46171	2.867472	0.999999997378186	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.41	5.41	0.78313	7.674000	0.83146	7.825000	0.69893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.744	0.77688	851	0.35303	.;Pleckstrin homology domain;.;Pleckstrin homology domain;Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2756.06	35	chr7	36870425	.	T	C	2756.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.73;DP=365;ExcessHet=0.4139;FS=0.487;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.323;SOR=0.656	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1341,0,1244	4	0	2	0
chr7	37741076	37741076	T	C	exonic	GPR141	.	nonsynonymous SNV	GPR141:NM_001381946:exon3:c.T683C:p.L228P,GPR141:NM_001329993:exon4:c.T683C:p.L228P,GPR141:NM_001329994:exon4:c.T683C:p.L228P,GPR141:NM_181791:exon4:c.T683C:p.L228P	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.0654444155295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.008	0.67890	D	1.0	0.90584	D	0.995	0.83170	D	0.000210	0.47681	D	0.080969	1	0.81001	D	2.72	0.79541	M	0.96	0.42888	T	-3.35	0.66436	D	0.957	0.96644	-0.6419	0.63065	T	0.234	0.60087	T	10	0.91858447	0.91216	D	0.065444	0.69580	D	0.525	0.79886	0.688	0.82558	0.708074060055	0.70552	0.8589809990846944	0.85861	0.318980945097	0.34112	0.586587309837	0.51013	T	0.436589	0.78292	T	0.241501	0.77803	D	0.109123	0.77514	D	0.987975656986237	0.78375	D	0.741926	0.36121	T	0.8329009	0.86105	0.8531857	0.91718	0.8329009	0.86107	0.8531857	0.91718	-8.36	0.63498	D	.	.	0.921	0.84278	P	.;.	.;.	5.086497	0.84911	28.4	0.99904678924521639	0.97576	0.98650	0.85139	D	AEFI	0.951380	0.96589	D	0.720922135458119	0.81003	7.421696	0.683013475853444	0.81088	7.446003	0.999977436837317	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	7.462000	0.79890	7.648000	0.63548	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.999000	0.91618	0.0:0.0:0.0:1.0	14.496	0.67272	937	0.14592	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	.	.	.	.	.	.	.	.	0.1667	2404.06	33	chr7	37741076	.	T	C	2404.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.03;DP=366;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.07;SOR=0.661	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1322,0,1284	4	0	2	0
chr7	39339990	39339990	C	T	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.C947T:p.P316L,POU6F2:NM_001166018:exon6:c.C860T:p.P287L,POU6F2:NM_007252:exon6:c.C860T:p.P287L	.	13	1488	21	0	0	21	0.00700701	.	.	.	750624	not_provided|POU6F2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.360	0.186887782839	0.0004	0.00119808	0.0009	0	0.0005	0	0	0.0004	0	0.0050	0.0007956	123	154602	rs140579551	0.0005	0.0005	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0043	2.99e-05	0.0003	0.0048	2.521e-05	0	0.0042	0.0001	0.0007	0.0049	0.0004	0.0004	0.0003	0.0005	0.0048	0.0003	0.0003	0.0033	0.0028	0	0	0.0004	0.0037	0.0002	0	0	0.0002	0.0005	0.0048	0.002	0.91255	D	0.018	0.66756	D	1.0	0.90584	D	0.995	0.88582	D	0.000000	0.00162	N	38.749600	0.999991	0.58761	D	0.895	0.22405	L	0.91	0.87910	T	-2.36	0.68178	N	0.572	0.68603	-0.0577	0.81042	T	0.789	0.92843	D	10	0.0104005635	0.00232	T	0.186888	0.85904	D	0.360	0.68052	.	.	0.944785693014	0.94420	0.4494868403030696	0.44866	0.12945880337	0.14595	0.710781097412	0.68706	T	0.381144	0.74352	T	-0.198564	0.21012	T	-0.056634	0.66565	D	0.0583975139153932	0.06913	T	0.934007	0.75281	D	0.27540636	0.50604	0.3132593	0.57324	0.2842961	0.51457	0.3352743	0.59343	-4.889	0.35611	T	0.1709959771602053	0.21531	0.102	0.32969	B	.;.;.;.;.	.;.;.;.;.	4.519271	0.70844	25.6	0.99677032777020813	0.78977	0.96149	0.67757	D	AEFDBI	0.698710	0.65630	D	0.538923182564204	0.69409	5.352951	0.496279600837992	0.67743	5.125052	0.985010285847895	0.30813	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	4.24	4.24	0.49486	4.676000	0.61317	4.718000	0.44490	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.622	0.84784	871	0.31377	.;.;.;.;.	.	.	.	.	.	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	0.002591	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.015152	0.1667	1378.06	35	chr7	39339990	.	C	T	1378.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.51;DP=277;ExcessHet=0.4139;FS=5.703;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.323;SOR=1.226	GT:AD:DP:GQ:PL	0/1:31,17:48:99:405,0,726	4	0	2	0
chr7	44201164	44201164	A	G	exonic	YKT6	.	nonsynonymous SNV	YKT6:NM_001363678:exon1:c.A29G:p.Y10C,YKT6:NM_006555:exon1:c.A29G:p.Y10C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0435934262408	0.0008	0.000798722	0.0005	0.0003	0.0005	0	0	0.0007	0.0015	0	0.0003299	51	154602	rs150272603	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0001	0.0002	0	0	3.756e-05	0	0.0009	0.0006	1.165e-05	0.0006	0.0006	0.0007	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	0.0004	0	0.0007	0	0	0	0.0034	0.0009	0	0	0.138	0.25873	T	0.14	0.36765	T	0.999	0.77913	D	0.96	0.70309	D	0.000156	0.49130	D	0.185391	1	0.81001	D	2.915	0.84231	M	2.26	0.17596	T	-7.06	0.93879	D	0.759	0.79792	-0.9515	0.40712	T	0.118	0.41560	T	10	0.24128762	0.41303	T	0.043593	0.61064	D	0.256	0.56694	.	.	0.123314135267	0.11883	0.5828313263381804	0.58212	0.863382039472	0.69074	0.730811953545	0.71625	T	0.29553	0.66819	T	-0.274862	0.11221	T	-0.223944	0.52357	T	0.380399743830588	0.28198	T	0.954005	0.83363	D	0.6506685	0.75400	0.3051741	0.56545	0.6506685	0.75401	0.3051741	0.56544	-3.869	0.43756	T	.	.	0.154	0.34071	B	.;.	.;.	5.139185	0.86031	28.8	0.99759527961071592	0.84931	0.99550	0.97340	D	AEFDGBHCI	0.933487	0.92547	D	0.681731789145554	0.78438	6.87119	0.589490893212476	0.74183	6.094233	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	3.8	3.8	0.42887	8.380000	0.90038	7.776000	0.68567	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	11.962	0.52299	794	0.45591	.;Longin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1408.06	34	chr7	44201164	.	A	G	1408.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.121;DP=254;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=2.2;SOR=0.685	GT:AD:DP:GQ:PL	0/1:24,34:58:99:868,0,597	4	0	2	0
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	119.69	98	chr7	47829595	.	G	A	119.69	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.506;DP=503;ExcessHet=0;FS=148.918;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=1.57;SOR=6.803	GT:AD:DP:GQ:PL	0/1:88,29:119:99:129,0,2251	4	0	1	1
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	219.81	89	chr7	47829596	.	G	C	219.81	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.184;DP=630;ExcessHet=0.4139;FS=206.453;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=1.45;SOR=8.238	GT:AD:DP:GQ:PL	0/1:88,31:119:99:148,0,2250	2	0	2	2
chr7	48644645	48644645	A	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon61:c.A14972G:p.H4991R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0143685405431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.841e-07	1.363e-06	0	9.002e-07	0	0	.	.	0	0	0	0	0	0	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.002	0.79402	D	.	.	.	.	.	.	0.001136	0.40136	N	0.000000	0.630819	0.32788	D	.	.	.	-0.73	0.73100	T	-4.51	0.88289	D	0.371	0.41261	-0.3565	0.73366	T	0.360	0.72224	T	10	0.4666577	0.59611	T	0.014369	0.34441	T	0.400	0.71401	0.47	0.54376	0.570543898189	0.56720	0.1821970379992141	0.18138	0.0317804330332	0.03293	0.429568171501	0.29149	T	.	.	.	0.000132592	0.51673	T	-0.237586	0.51034	T	0.951683580875397	0.63617	D	0.564644	0.19916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.21803	B	.;.	.;.	2.464519	0.31755	18.84	0.99164989393106118	0.54212	0.62565	0.31820	D	AEFI	0.189362	0.31662	N	0.207574031732752	0.51565	3.336777	0.162231193951582	0.47794	3.004293	1.45620231453043E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	3.73	0.41982	1.561000	0.35950	5.029000	0.46811	0.733000	0.85838	0.631000	0.28008	0.978000	0.30204	0.998000	0.85391	0.9096:0.0:0.0904:0.0	8.591	0.32847	844	0.36711	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	940.06	39	chr7	48644645	.	A	G	940.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.364;DP=215;ExcessHet=0.4139;FS=5.311;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.242;SOR=0.341	GT:AD:DP:GQ:PL	0/1:23,23:46:99:466,0,560	4	0	2	0
chr7	70790590	70790590	-	CCA	exonic	AUTS2	.	nonframeshift insertion	AUTS2:NM_001127231:exon18:c.3302_3303insCCA:p.H1109_P1110insH,AUTS2:NM_015570:exon19:c.3374_3375insCCA:p.H1133_P1134insH	Mental retardation, autosomal dominant 26, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	360894	Autism_spectrum_disorder_due_to_AUTS2_deficiency|not_provided|Autism|Global_developmental_delay	MONDO:MONDO:0014361,MedGen:C4014435,OMIM:615834,Orphanet:352490|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000717,MONDO:MONDO:0005260,MeSH:D001321,MedGen:C0004352,OMIM:209850|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0072	.	0.0098	0.0023	0.0036	0.0009	0.0004	0.0075	0.0166	0.0279	0.0003842	10	26028	rs1057518870	0.0084	0.0085	0.0077	0.0090	0.0268	0.0082	0.0082	0.0249	0.0246	0.0024	0.0058	0.0075	0.0014	0.0022	0.0268	0.0077	0.0091	0.0259	0.0062	0.0063	0.0063	0.0062	0.0265	0.0059	0.0058	0.0227	0.0213	0.0025	0.0066	0.0073	0.0061	0.0010	0.0018	0.0204	0.0078	0.0076	0.0265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2621.03	36	chr7	70790590	.	G	GCCA	2621.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.833;DP=341;ExcessHet=0.4139;FS=0.599;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=1.63;SOR=0.597	GT:AD:DP:GQ:PL	0/1:44,35:79:99:1268,0,1728	4	0	2	0
chr7	87908065	87908065	A	G	exonic	DBF4	.	nonsynonymous SNV	DBF4:NM_001318060:exon11:c.A1228G:p.I410V,DBF4:NM_001318061:exon12:c.A1255G:p.I419V,DBF4:NM_001318062:exon12:c.A1147G:p.I383V,DBF4:NM_006716:exon12:c.A1927G:p.I643V	.	432	1083	6	1	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00420445254734	0.0002	0.000199681	0.0002	0.0004	0.0006	0	0	0.0001	0	0.0005	0.0001811	28	154602	rs148580432	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0001	0.0009	3.829e-05	0	0	0.0026	0.0001	0.0007	0.0004	0.0003	0.0003	0.0003	0.0004	0.0018	0.0003	0.0002	0.0013	0.0011	0.0002	0	0.0018	0	0	0	0	0.0001	0.0028	0.0002	0.793	0.03175	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.805431	0.09291	N	0.908181	1	0.08975	N	1.5	0.37844	L	1.6	0.28604	T	-0.16	0.09460	N	0.049	0.02088	-0.9758	0.35948	T	0.035	0.15291	T	10	0.017714292	0.00380	T	0.004204	0.10121	T	0.018	0.03083	.	.	0.50315201076	0.49952	0.09300891952656395	0.09232	0.124736295977	0.14054	0.337535381317	0.16069	T	0.041188	0.25775	T	-0.548138	0.00299	T	-0.635552	0.09997	T	0.00614808607546244	0.00068	T	0.59824	0.22282	T	0.027566848	0.01966	0.021217456	0.00181	0.027566848	0.01966	0.021217456	0.00181	-3.456	0.15821	T	.	.	0.072	0.04198	B	.	.	-0.052647	0.03933	0.874	0.44758173714464644	0.03464	0.10615	0.16071	N	AEFGBCI	0.048460	0.08272	N	-0.844522520037764	0.12185	0.592409	-0.743961597808246	0.15871	0.8368487	0.443873367107901	0.20476	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.61	2.03	0.25714	0.029000	0.13555	0.308000	0.17052	0.756000	0.94297	0.001000	0.13787	0.006000	0.19429	0.922000	0.45779	0.5366:0.0:0.1303:0.3331	3.253	0.06418	541	0.72942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005056	0.017857	0.006849	0.000000	0.000000	0.000000	0.000000	0.004000	0.1667	2462.06	36	chr7	87908065	.	A	G	2462.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.02;DP=354;ExcessHet=0.4139;FS=5.065;MLEAC=2;MLEAF=0.167;MQ=58.2;MQRankSum=0.393;QD=11.89;ReadPosRankSum=0.053;SOR=1.061	GT:AD:DP:GQ:PL	0/1:61,43:104:99:1053,0,1588	4	0	2	0
chr7	92040807	92040807	G	A	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon18:c.G4826A:p.R1609K,AKAP9:NM_147185:exon18:c.G4826A:p.R1609K	.	2	1517	3	0	0	3	0.000987817	.	.	.	655810	not_specified|Long_QT_syndrome|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.037	0.0105003809502	.	0.000599042	0.0004	0	0.0025	0	0.0002	0.0003	0.0033	0	0.0003946	61	154602	rs148146011	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	2.987e-05	0.0020	0.0007	0	3.744e-05	0.0033	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	9.633e-05	0	0.0012	0.0012	0	0	0	0.0002	0.0005	0.0004	0.186	0.21467	T	0.686	0.07518	T	.	.	.	.	.	.	0.000524	0.43581	D	0.000000	0.954299	0.26374	N	.	.	.	4.05	0.03092	T	-0.35	0.12847	N	0.113	0.26957	-1.0222	0.22998	T	0.013	0.05033	T	10	0.011005938	0.00242	T	0.011	0.27109	T	0.037	0.09474	.	.	0.385084120042	0.38121	0.21059081786531725	0.20975	0.199357701048	0.22332	0.707103550434	0.68173	T	0.257823	0.64280	T	-0.560859	0.00251	T	-0.584888	0.14111	T	0.0222847738322418	0.00941	T	0.806219	0.45479	T	0.09535455	0.22439	0.11842089	0.28586	0.09535455	0.22438	0.11842089	0.28585	-5.876	0.45230	T	.	.	0.243	0.49711	B	.;.;.;.	.;.;.;.	3.796036	0.54670	23.5	0.91839952688437132	0.21152	0.85325	0.44447	D	AEFBI	0.210202	0.33612	N	0.0236045481696767	0.42930	2.596034	0.133577509776135	0.46276	2.876341	0.996458878739137	0.34757	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.48	0.53973	2.851000	0.48001	9.656000	0.81182	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.1443:0.0:0.8557:0.0	10.84	0.45913	231	0.90996	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.015152	0.004076	0.017544	0.000000	0.000000	0.000000	0.000000	0.08333	2018.83	38	chr7	92040807	.	G	A	2018.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.179;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=-0.587;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,53:113:99:0|1:92040806_A_C:2029,0,2360:92040806	5	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	149.06	141	chr7	93102964	.	C	G	149.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-5.633;DP=463;ExcessHet=0.4139;FS=234.609;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.333;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,19:160:57:.:.:57,0,4898:.	4	0	2	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	240.76	142	chr7	93102965	.	C	G	240.76	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-5.225;DP=612;ExcessHet=0.4139;FS=241.27;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.501;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,30:161:99:.:.:147,0,4883:.	3	0	2	1
chr7	98617646	98617646	C	T	exonic	NPTX2	.	nonsynonymous SNV	NPTX2:NM_002523:exon1:c.C185T:p.A62V	.	424	1045	49	4	0	57	0.0265487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	0.00798722	0.0260	0	0.0147	0.0081	.	0.0143	0	0.0316	0.0027749	429	154602	rs115375965	0.0085	0.0080	0.0080	0.0090	0.0232	0.0083	0.0083	0.0223	0.0219	0.0071	0.0047	0.0131	0.0006	0.0072	0.0105	0.0077	0.0086	0.0232	0.0077	0.0077	0.0082	0.0073	0.0190	0.0073	0.0072	0.0159	0.0147	0.0082	0	0.0042	0.0144	0.0004	0.0061	0.0068	0.0081	0.0057	0.0190	0.003	0.68238	D	0.006	0.70582	D	0.226	0.30455	B	0.028	0.21332	B	.	.	.	.	0.995788	0.42855	D	1.39	0.34934	L	2.92	0.09915	T	-0.85	0.23156	N	0.061	0.03283	-1.0495	0.14537	T	0.007	0.02282	T	9	0.0047870874	0.00101	T	.	.	.	0.049	0.13647	.	.	.	.	0.6093709741241436	0.60869	0.410542690143	0.41835	0.919665932655	0.98298	D	0.264746	0.63655	T	-0.536404	0.00352	T	-0.524359	0.19854	T	0.0290008586872364	0.01838	T	0.950605	0.81072	D	0.30948555	0.53742	0.30403122	0.56432	0.30948555	0.53742	0.30403122	0.56431	-5.498	0.41849	T	.	.	0.156	0.34449	B	.	.	4.400750	0.67996	25.2	0.99822509836095696	0.90502	0.82763	0.41947	D	AEFDBHCIJ	0.743947	0.68709	D	-0.0570587939901521	0.39287	2.314396	0.0573941244764255	0.42430	2.566248	0.999999999999999	0.74766	0.789315	0.99827	0	0.547309	0.14657	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.53	4.53	0.55009	5.599000	0.67280	7.331000	0.58204	0.533000	0.24879	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.228	0.82137	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009639	0.013889	0.000000	0.004464	0.000000	0.000000	0.021127	0.021277	0.08333	301.83	31	chr7	98617646	.	C	T	301.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.385;DP=122;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=-0.868;SOR=0.534	GT:AD:DP:GQ:PL	0/1:6,10:16:99:312,0,159	5	0	1	0
chr7	99486688	99486688	C	G	exonic	ZNF789	.	nonsynonymous SNV	ZNF789:NM_001350999:exon4:c.C427G:p.L143V,ZNF789:NM_001351000:exon4:c.C364G:p.L122V,ZNF789:NM_213603:exon5:c.C478G:p.L160V,ZNF789:NM_001351002:exon6:c.C193G:p.L65V,ZNF789:NM_001351004:exon7:c.C193G:p.L65V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00818199257693	0.0002	0.00139776	0.0005	0	0.0002	0	0	2.997e-05	0	0.0036	0.0004657	72	154602	rs149797851	0.0002	0.0002	0.0001	0.0002	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0003	2.698e-06	0.0004	0.0028	0.0002	0.0002	8.993e-05	0.0002	0.0048	0.0001	9.234e-05	0.0033	0.0028	2.407e-05	0	0	0	0	0	0	0	0	0.0048	0.082	0.33254	T	0.026	0.55759	D	0.421	0.35387	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	3.485	0.92608	M	1.78	0.25678	T	-2.03	0.46673	N	0.189	0.20660	-1.0051	0.28427	T	0.077	0.30676	T	9	0.005666554	0.00126	T	0.008182	0.21674	T	0.089	0.25827	.	.	0.319402600006	0.31557	0.0377106145453577	0.03717	0.663473762055	0.59019	0.241172775626	0.02897	T	0.012471	0.10959	T	-0.530337	0.00382	T	-0.53699	0.18594	T	0.148247098624436	0.16963	T	0.672833	0.28129	T	0.08001302	0.18310	0.07510658	0.16499	0.08001302	0.18309	0.07510658	0.16498	-5.333	0.40268	T	.	.	0.086	0.10883	B	.	.	0.942930	0.13185	9.688	0.98540850482266951	0.42719	0.19254	0.20589	N	AEFBI	0.073357	0.14670	N	-0.548290189108639	0.20538	1.083381	-0.742190024169473	0.15913	0.8393589	7.31721267367893E-5	0.04552	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	3.09	-0.121	0.12875	0.355000	0.19902	-0.003000	0.13174	-0.274000	0.06627	0.002000	0.15269	0.000000	0.08366	0.353000	0.25727	0.0:0.526:0.0:0.474	6.164	0.19594	331	0.86429	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2712.06	33	chr7	99486688	.	C	G	2712.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.017;DP=367;ExcessHet=0.4139;FS=0.484;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=2.03;SOR=0.736	GT:AD:DP:GQ:PL	0/1:48,47:95:99:1123,0,1387	4	0	2	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2118.86	96	chr7	100175805	.	G	C	2118.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-1.196;DP=445;ExcessHet=6.1542;FS=481.35;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=1.46;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,24:61:99:0|1:100175805_G_C:392,0,1201:100175805	0	0	5	1
chr7	100314556	100314556	C	T	exonic	SPDYE3	.	nonsynonymous SNV	SPDYE3:NM_001004351:exon6:c.C1007T:p.P336L	.	587	933	0	2	0	4	0.00213904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	0.00219649	0.0016	0	0.0004	0	0	0.0001	0	0.0101	0.0007244	112	154602	rs185181307	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	6.932e-05	0	0	0	0.0006	2.291e-05	0.0006	0.0058	0.0003	0.0003	0.0001	0.0005	0.0090	0.0002	0.0002	0.0067	0.0059	5.806e-05	0	0	0	0	0	0	0	0	0.0090	0.292	0.14894	T	0.247	0.23914	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	.	.	.	-2.2	0.49519	N	0.071	0.04426	-1.0080	0.27541	T	0.052	0.22076	T	4	0.005325198	0.00117	T	.	.	.	0.035	0.08770	.	.	0.043077524339	0.03247	0.010637752304975092	0.01024	1.47686996324	0.86643	.	.	.	0.029378	0.21062	T	-0.531388	0.00377	T	-0.534021	0.18886	T	0.037379401505994	0.03223	T	0.130787	0.01031	T	0.05646106	0.11112	0.12803924	0.30810	0.05646106	0.11112	0.12803924	0.30810	-10.428	0.76432	D	.	.	0.187	0.40344	B	.	.	0.967640	0.13443	9.954	0.25846354168856783	0.01211	0.03055	0.07955	N	AEFI	0.036323	0.04822	N	-0.741398034514801	0.14869	0.7443482	-0.90416226674536	0.11995	0.6145253	1.10530146109008E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.632000	0.24273	-8.038000	0.01039	.	.	0.998000	0.41325	0.000000	0.08366	.	.	.	.	.	266	0.89551	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1243.93	21	chr7	100314556	.	C	T	1243.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.154;DP=181;ExcessHet=0.5115;FS=2.611;MLEAC=2;MLEAF=0.2;MQ=37.23;MQRankSum=2.21;QD=11.74;ReadPosRankSum=1.67;SOR=0.452	GT:AD:DP:GQ:PL	0/1:25,36:61:99:755,0,472	3	0	2	1
chr7	100884215	100884215	G	T	exonic	SRRT	.	nonsynonymous SNV	SRRT:NM_001128852:exon6:c.G733T:p.A245S,SRRT:NM_001128853:exon6:c.G733T:p.A245S,SRRT:NM_001128854:exon6:c.G733T:p.A245S,SRRT:NM_015908:exon6:c.G733T:p.A245S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00697921788641	7.7e-05	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs140988239	4.104e-06	4.104e-06	1.361e-06	6.875e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	4.967e-05	2.319e-05	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.613	0.07691	T	0.728	0.43887	P	0.219	0.41976	B	0.004680	0.33505	N	0.236882	0.997959	0.44355	D	1.475	0.37068	L	.	.	.	.	.	.	0.589	0.60918	-1.0320	0.19809	T	0.116	0.40919	T	9	0.19313142	0.35070	T	0.006979	0.18485	T	.	.	.	.	0.102598925029	0.09809	0.27600257055637706	0.27513	.	.	0.534827649593	0.43714	T	0.136977	0.46965	T	-0.0789774	0.39881	T	-0.351222	0.39065	T	0.282814856540149	0.24289	T	0.753825	0.37593	T	0.16566214	0.36852	0.08929064	0.20871	0.16566214	0.36852	0.08929064	0.20870	-4.113	0.25584	T	.	.	0.088	0.12418	B	.;.;.;.	.;.;.;.	3.474684	0.48488	22.6	0.99231700228971098	0.56246	0.91040	0.52743	D	AEFDBCI	0.558232	0.56754	D	0.102547363591978	0.46580	2.896312	0.176393511416609	0.48556	3.069993	0.999999092541205	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.06	4.06	0.46572	3.895000	0.55971	7.537000	0.60015	0.618000	0.50648	0.992000	0.37556	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	11.928	0.52113	692	0.58729	.;.;.;SERRATE/Ars2, 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	.	.	.	.	.	.	.	.	0.1667	2451.06	45	chr7	100884215	.	G	T	2451.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.008;DP=349;ExcessHet=0.4139;FS=1.742;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.839;SOR=0.562	GT:AD:DP:GQ:PL	0/1:57,44:101:99:1060,0,1409	4	0	2	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	161.04	564	chr7	100952945	.	C	*	161.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.413;DP=3234;ExcessHet=11.5949;FS=1.131;MLEAC=5;MLEAF=0.417;MQ=57.61;MQRankSum=-6.949;QD=0.05;ReadPosRankSum=2.07;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,160:472:99:0|1:100952930_T_C:5779,0,12619:100952930	1	0	5	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12083.3	432	chr7	100953156	.	C	*	12083.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=3.79;DP=2629;ExcessHet=6.1542;FS=9.412;MLEAC=6;MLEAF=0.5;MQ=57.38;MQRankSum=-13.85;QD=4.61;ReadPosRankSum=0.526;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,86:438:99:0|1:100953098_G_C:2720,0,12170:100953098	0	0	6	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1195.45	353	chr7	100953225	.	G	*	1195.45	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.83;DP=2114;ExcessHet=6.1542;FS=1.752;MLEAC=1;MLEAF=0.083;MQ=57.87;MQRankSum=-18.2;QD=0.69;ReadPosRankSum=-5.269;SOR=0.852	GT:AD:DP:GQ:PL	0/1:316,30:361:99:280,0,13326	5	0	1	0
chr7	100994359	100994359	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G3796A:p.V1266I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00658461216505	.	0.000199681	0.0006	0	0	0	0	0	0	0.0014	3.84e-05	1	26028	rs569676301	0.0003	0.0006	0.0001	0.0004	0.0033	0.0002	0.0002	0.0029	0.0028	0	0.0002	6.778e-05	0	0	0.0004	3.808e-05	0.0001	0.0033	2.005e-05	0.0001	0	4.159e-05	0.0001	0	0	.	.	0.0001	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.085	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.76	0.11515	T	-0.26	0.11185	N	0.092	0.09066	-0.9616	0.38877	T	0.013	0.05081	T	7	0.008494794	0.00192	T	0.006585	0.17358	T	0.014	0.01968	0.15	0.05339	0.0138822411134	0.00435	0.0011260988011681033	0.00103	.	.	0.547454237938	0.45498	T	0.00352	0.02930	T	-0.361631	0.04039	T	-0.757234	0.03212	T	0.0116841371343507	0.00179	T	0.365963	0.08520	T	0.045228884	0.07368	0.06385276	0.12709	0.045228884	0.07368	0.06385276	0.12709	-5.669	0.45085	T	.	.	0.153	0.34711	B	.;.	.;.	-0.223068	0.02976	0.444	0.42846047119387515	0.03186	0.00083	0.00561	N	AEFI	0.028427	0.02501	N	-0.927504170881533	0.10203	0.4864205	-1.09601634957574	0.07778	0.3796968	1.29810242774381E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	-1.880000	0.01719	-8.641000	0.00936	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3321:0.0:0.6678:0.0	3.071	0.05853	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	.	.	.	.	.	.	.	.	0.25	179.34	59	chr7	100994359	.	G	A	179.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.83;DP=105;ExcessHet=0;FS=15.563;MLEAC=2;MLEAF=0.167;MQ=25.85;MQRankSum=0.967;QD=19.93;ReadPosRankSum=-0.842;SOR=4.161	GT:AD:DP:GQ:PL	1/1:0,3:3:9:95,9,0	4	1	1	0
chr7	100994762	100994762	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C4199A:p.T1400N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00707413867358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.518e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.185e-05	3.078e-05	4.125e-05	0	4.378e-05	0	0	.	.	0	0	0	0	0	0	0	4.378e-05	0	0	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.72	0.11947	T	-0.74	0.20791	N	0.153	0.15749	-0.9382	0.42900	T	0.014	0.05608	T	6	0.08910248	0.15404	T	0.007074	0.18731	T	0.009	0.00846	0.131	0.03577	0.0138822411134	0.00435	0.003347394202168646	0.00312	.	.	0.522460341454	0.41973	T	0.002777	0.02166	T	-0.333952	0.05817	T	-0.717475	0.04918	T	0.0521372865109686	0.05870	T	0.286771	0.06705	T	0.13070439	0.30490	0.13040441	0.31335	0.13070439	0.30489	0.13040441	0.31334	-8.383	0.63652	D	.	.	0.185	0.40065	B	.;.	.;.	1.424381	0.18417	13.72	0.31469477507435145	0.01775	0.00138	0.00846	N	AEFI	0.029318	0.02744	N	-1.05620994572844	0.07466	0.3469244	-1.23894304148428	0.05297	0.2520353	1.36650798488973E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.722	-0.958	0.09819	0.918000	0.28299	-0.287000	0.10223	-0.724000	0.03774	0.001000	0.13787	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	.	.	.	.	.	.	.	.	0.08333	118.83	28	chr7	100994762	.	C	A	118.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.193;DP=236;ExcessHet=0;FS=10.326;MLEAC=1;MLEAF=0.083;MQ=25.41;MQRankSum=-0.404;QD=2.29;ReadPosRankSum=-1.806;SOR=1.719	GT:AD:DP:GQ:PL	0/1:41,11:52:99:129,0,960	5	0	1	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	5911.96	133	chr7	105613788	.	C	T	5911.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.57;DP=523;ExcessHet=3.1439;FS=1.103;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.749;SOR=0.803	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1143,0,1244	2	0	4	0
chr7	108497549	108497549	T	G	exonic	PNPLA8	.	nonsynonymous SNV	PNPLA8:NM_001256008:exon5:c.A1387C:p.K463Q,PNPLA8:NM_001256009:exon5:c.A1387C:p.K463Q,PNPLA8:NM_001256010:exon5:c.A1087C:p.K363Q,PNPLA8:NM_001256007:exon6:c.A1387C:p.K463Q,PNPLA8:NM_001256011:exon6:c.A1087C:p.K363Q,PNPLA8:NM_015723:exon7:c.A1387C:p.K463Q	.	440	1080	2	0	0	2	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00944348936759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.84e-07	0	1.377e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.50676	T	0.044	0.51112	D	0.362	0.33945	B	0.156	0.34472	B	0.000003	0.62929	D	0.099805	0.99892	0.45696	D	1.17	0.29769	L	2.29	0.17113	T	-2.3	0.51157	N	0.342	0.44952	-1.0992	0.04189	T	0.038	0.16203	T	10	0.33208972	0.50420	T	0.009443	0.24739	T	0.093	0.26882	0.503	0.59615	0.296679040009	0.29266	0.7562293205539602	0.75570	0.183562545926	0.20647	0.604503631592	0.53540	T	0.381129	0.74352	T	-0.170125	0.25216	T	-0.482149	0.24219	T	0.808408379554749	0.46934	D	0.943606	0.80045	D	0.33889922	0.56192	0.17502446	0.39939	0.33889922	0.56192	0.17502446	0.39938	-6.676	0.51629	T	.	.	0.186	0.40213	B	.;.;.;.;.;.	.;.;.;.;.;.	4.035686	0.59715	24.1	0.98635948330251433	0.43987	0.95465	0.64829	D	AEFGBCI	0.666973	0.63525	D	0.0897834286621976	0.45986	2.846207	0.243495966478514	0.52281	3.40391	0.810655740948619	0.24349	0.743674	0.98306	0	0.635938	0.57008	0	0.630245	0.45026	0	0.691587	0.68394	0	.	.	5.46	5.46	0.80021	5.040000	0.63987	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	15.527	0.75650	859	0.33891	.;Patatin-like phospholipase domain|Patatin-like phospholipase domain;Patatin-like phospholipase domain|Patatin-like phospholipase domain;.;Patatin-like phospholipase domain|Patatin-like phospholipase domain;Patatin-like phospholipase domain|Patatin-like phospholipase 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	.	.	.	.	.	.	.	.	0.08333	616.83	22	chr7	108497549	.	T	G	616.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.656;DP=166;ExcessHet=0;FS=1.378;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=1.37;SOR=1.167	GT:AD:DP:GQ:PL	0/1:13,25:38:99:627,0,253	5	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	0.25	419.71	216	chr7	128479325	.	T	C	419.71	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.1;DP=985;ExcessHet=0.4139;FS=71.433;MLEAC=2;MLEAF=0.25;MQ=58.11;MQRankSum=-11.35;QD=1.16;ReadPosRankSum=-1.886;SOR=5.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,20:187:99:0|1:128479325_T_C:337,0,6899:128479325	2	0	2	2
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	0.3333	421.99	220	chr7	128479326	.	G	C	421.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.47;DP=994;ExcessHet=0.4139;FS=71.433;MLEAC=3;MLEAF=0.5;MQ=58.17;MQRankSum=-11.35;QD=1.17;ReadPosRankSum=-2.163;SOR=5.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,20:187:99:0|1:128479325_T_C:337,0,6899:128479325	1	0	2	3
chr7	128890943	128890943	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon20:c.C2126T:p.A709V,KCP:NM_199349:exon20:c.C2126T:p.A709V	.	324	1166	27	5	0	37	0.0156184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0	0	0	.	.	0	.	0	0.0006921	107	154602	rs142146217	0.0078	0.0064	0.0077	0.0079	0.0236	0.0077	0.0076	0.0192	0.0175	0.0044	0.0063	0.0050	0	0.0041	0.0236	0.0082	0.0079	0.0053	0.0071	0.0071	0.0075	0.0067	0.0098	0.0067	0.0066	0.0091	0.0089	0.0041	0.0186	0.0065	0.0046	0.0002	0.0049	0.0274	0.0098	0.0100	0.0064	.	.	.	0.047	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.26111	.	.	.	.	.	.	.	0.0073870122	0.00168	T	.	.	.	.	.	.	.	0.343334270461	0.33943	0.2254635075436212	0.22461	.	.	0.637730777264	0.58241	T	0.023234	0.17773	T	-0.238041	0.15600	T	-0.108592	0.62724	T	.	.	.	0.516848	0.16688	T	0.053548023	0.10148	0.22741485	0.47750	0.053548023	0.10147	0.22741485	0.47749	-9.267	0.69400	D	.	.	0.107	0.20196	B	.;.;.	.;.;.	2.598436	0.33719	19.42	0.97280268731145969	0.33181	0.65780	0.32852	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999999948015	0.74766	0.110573	0.02883	0	0.166317	0.03975	0	0.119651	0.03204	0	0.109499	0.03221	0	0.961317	0.65959	4.15	4.15	0.47978	1.230000	0.32214	1.427000	0.26414	0.483000	0.22176	0.006000	0.17386	0.012000	0.20211	0.688000	0.33778	0.0:0.0:1.0:0.0	14.299	0.65887	546	0.72524	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026611	0.031250	0.084746	0.011236	0.000000	0.000000	0.006410	0.039474	0.08333	123.84	17	chr7	128890943	.	G	A	123.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.598;DP=82;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=0;SOR=0.476	GT:AD:DP:GQ:PL	0/1:11,7:18:99:134,0,271	5	0	1	0
chr7	131506291	131506291	C	T	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon6:c.G1184A:p.R395Q,PODXL:NM_001018111:exon7:c.G1280A:p.R427Q	.	0	225	1	0	0	1	0.00221729	.	.	.	1541791	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	0.00408158761684	0.0002	0.000399361	0.0002	9.61e-05	0.0008	0	0	0.0002	0	0	0.0001876	29	154602	rs199529657	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	8.961e-05	0.0010	0	0	0	0.0003	0.0003	0.0002	5.797e-05	0.0004	0.0004	0.0003	0.0006	0.0021	0.0003	0.0003	0.0015	0.0013	7.215e-05	0	0.0021	0	0	0	0	0.0004	0.0019	0	0.34	0.12714	T	0.145	0.33000	T	0.179	0.28995	B	0.014	0.16862	B	0.404368	0.04554	N	1.506970	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	-0.01	0.07590	N	0.1	0.12770	-1.0408	0.17071	T	0.019	0.08173	T	10	0.020045966	0.00456	T	0.004082	0.09744	T	0.038	0.09825	.	.	0.18274738541	0.17906	0.3441388122477267	0.34327	0.375685216108	0.39028	0.21295183897	0.00943	T	0.061532	0.31678	T	-0.584214	0.00182	T	-0.69122	0.06319	T	0.0255381071840856	0.01344	T	0.587441	0.21745	T	0.024510982	0.01289	0.030094951	0.01422	0.024510982	0.01289	0.030094951	0.01422	-5.738	0.44031	T	.	.	0.097	0.17700	B	.;.	.;.	1.102562	0.14872	11.40	0.99105166612299944	0.52572	0.02766	0.07461	N	AEFDBHCI	0.047538	0.08015	N	-1.28074816257271	0.03907	0.1754088	-1.28209261520343	0.04672	0.2209466	0.995900895694021	0.34398	0.67177	0.52595	0	0.759151	0.99529	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.79	-2.71	0.05633	-0.740000	0.04966	-1.850000	0.04613	-0.319000	0.05888	0.000000	0.06391	0.000000	0.08366	0.745000	0.35611	0.268:0.272:0.1882:0.2718	0.184	0.00118	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	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1091.83	35	chr7	131506291	.	C	T	1091.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.4;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.792;SOR=0.671	GT:AD:DP:GQ:PL	0/1:51,42:93:99:1102,0,1211	5	0	1	0
chr7	134960033	134960033	A	C	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033140:exon9:c.A1338C:p.E446D,CALD1:NM_033139:exon10:c.A1416C:p.E472D,CALD1:NM_004342:exon11:c.A1356C:p.E452D,CALD1:NM_033138:exon12:c.A2121C:p.E707D,CALD1:NM_033157:exon12:c.A1431C:p.E477D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0139047326432	.	.	4.12e-05	9.61e-05	0	0	0	5.995e-05	0	0	3.23e-05	5	154602	rs767071529	3.968e-05	3.967e-05	3.403e-05	4.538e-05	0.0002	3.113e-05	2.846e-05	3.983e-05	2.469e-05	0.0001	0	0	0	0	0.0002	3.687e-05	0.0002	1.159e-05	3.283e-05	3.281e-05	5.139e-05	1.343e-05	4.41e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.41e-05	0.0005	0	0.208	0.23360	T	0.678	0.08245	T	0.111	0.37421	B	0.084	0.37394	B	0.000064	0.52346	D	0.000000	0.692373	0.30179	N	1.49	0.37298	L	0.81	0.48460	T	-0.74	0.23590	N	0.491	0.53269	-0.9749	0.36148	T	0.107	0.38882	T	10	0.16765174	0.31271	T	0.013905	0.33646	T	0.203	0.48915	0.618	0.75232	0.74451253264	0.74221	0.13717122240487817	0.13641	0.261570637116	0.28704	0.5825111866	0.50439	T	0.096715	0.59359	T	-0.228385	0.16864	T	-0.379932	0.35731	T	0.0417534106736356	0.04010	T	0.915608	0.73996	D	0.03557775	0.04215	0.048086785	0.07070	0.03557775	0.04214	0.048086785	0.07069	-5.621	0.50992	T	.	.	0.192	0.41078	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.239551	0.16352	12.48	0.96427867582474902	0.29782	0.57352	0.30354	D	AEFBI	0.593532	0.58882	D	-0.716919531224027	0.15547	0.7844099	-0.692699738655952	0.17142	0.9102061	0.807335313872207	0.24293	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	1.96	0.25203	-0.020000	0.12466	2.212000	0.31376	-0.065000	0.16512	0.619000	0.27905	1.000000	0.68203	0.027000	0.12703	0.5337:0.0:0.3356:0.1307	5.050	0.13839	849	0.35778	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.008621	0.000000	0.000000	0.08333	782.83	35	chr7	134960033	.	A	C	782.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.762;DP=231;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-1.074;SOR=0.914	GT:AD:DP:GQ:PL	0/1:21,33:54:99:793,0,470	5	0	1	0
chr7	138981145	138981145	-	GGCGGC	exonic	KIAA1549	.	nonframeshift insertion	KIAA1549:NM_001164665:exon1:c.124_125insGCCGCC:p.R41_P42insRR,KIAA1549:NM_020910:exon1:c.124_125insGCCGCC:p.R41_P42insRR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	61.96	22	chr7	138981145	.	G	GGGCGGC	61.96	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-1.834;SOR=1.179	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	5	0	1	0
chr7	139055249	139055249	G	A	exonic	ZC3HAV1	.	nonsynonymous SNV	ZC3HAV1:NM_001363491:exon10:c.C2509T:p.R837C,ZC3HAV1:NM_020119:exon10:c.C2143T:p.R715C	.	.	.	.	.	.	.	.	.	.	.	2424318	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00234781285181	7.7e-05	0.000199681	0.0002	0.0002	0.0005	0	0	0.0002	0	6.056e-05	0.0001682	26	154602	rs141029907	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	9.772e-05	0.0005	0.0003	8.963e-05	0.0005	0	0	0	0.0010	0.0001	0.0004	3.488e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	9.619e-05	0	0.0007	0	0	0	0	0.0002	0.0014	0	0.054	0.38633	T	0.136	0.34009	T	0.561	0.38362	P	0.092	0.30031	B	0.099640	0.02535	N	1.964760	1	0.08975	N	0.345	0.11182	N	3.23	0.06931	T	-0.14	0.09297	N	0.093	0.08925	-1.0085	0.27385	T	0.009	0.03011	T	10	0.018089175	0.00391	T	0.002348	0.04562	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.4672761937675989	0.46646	0.467027789823	0.46087	0.20876994729	0.00760	T	0.001825	0.04911	T	-0.557798	0.00262	T	-0.728496	0.04396	T	0.014523440040648	0.00296	T	0.529847	0.17555	T	0.04848564	0.08459	0.027659709	0.00936	0.04848564	0.08459	0.027659709	0.00936	-2.673	0.07079	T	.	.	0.092	0.20741	B	.;.	.;.	0.895281	0.12690	9.212	0.82851387977673285	0.14409	0.02096	0.06219	N	AEFBI	0.040626	0.06068	N	-1.26262183710425	0.04135	0.1860738	-1.4285917185349	0.02970	0.1376382	0.999633969423284	0.41205	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	3.68	-6.59	0.01663	-1.703000	0.02000	0.127000	0.14995	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2546:0.3437:0.1693:0.2324	0.900	0.01192	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	312.83	33	chr7	139055249	.	G	A	312.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=-1.075;SOR=0.795	GT:AD:DP:GQ:PL	0/1:24,14:38:99:323,0,561	5	0	1	0
chr7	143727654	143727654	G	A	exonic	TCAF2	.	nonsynonymous SNV	TCAF2:NM_001130026:exon8:c.G2435A:p.R812H,TCAF2:NM_001363538:exon8:c.G2747A:p.R916H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00148101578224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326914559	9.055e-05	0.0001	7.345e-05	0.0001	0.0001	7.027e-05	6.239e-05	8.146e-05	7.209e-05	0	0.0001	6.66e-05	3.134e-05	0	0	0.0001	0.0002	0	0.0001	0.0001	6.391e-05	0.0002	0.0016	7.916e-05	6.171e-05	0.0007	0.0005	7.86e-05	0	0	0	0.0016	0	0	9.884e-05	0	0	0.448	0.09687	T	0.609	0.08079	T	0.002	0.09854	B	0.002	0.06944	B	0.020489	0.01533	N	3.053340	1	0.08975	N	.	.	.	.	.	.	-0.66	0.19085	N	0.079	0.11340	-1.0465	0.15389	T	0.065	0.26772	T	8	0.03264934	0.01421	T	0.001481	0.02267	T	0.006	0.00375	0.266	0.21261	0.0138822411134	0.00435	0.265013133573278	0.26414	.	.	.	.	.	0.017297	0.14133	T	-0.328792	0.06204	T	-0.710063	0.05291	T	0.183281242847443	0.19440	T	0.457154	0.13128	T	0.020681413	0.00636	0.02036236	0.00132	0.020681413	0.00636	0.02036236	0.00132	-4.483	0.31240	T	.	.	0.070	0.21653	B	.;.;.	.;.;.	0.472963	0.08423	5.182	0.47286707127217859	0.03854	0.01672	0.05346	N	AEFI	0.074625	0.14962	N	-1.28538882760982	0.03850	0.1727577	-1.45520269346996	0.02723	0.1257825	0.0760940596815247	0.15717	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.92	-7.47	0.01221	-1.388000	0.02638	-2.309000	0.03918	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1985:0.0:0.5215:0.2801	6.079	0.19154	781	0.47532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	49.81	9	chr7	143727654	.	G	A	49.81	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.21;DP=42;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=25;MQRankSum=0;QD=4.98;ReadPosRankSum=-0.549;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,3:10:59:59,0,178	4	0	1	1
chr7	144074575	144074575	A	G	exonic	OR2A25	.	nonsynonymous SNV	OR2A25:NM_001004488:exon1:c.A356G:p.Y119C	.	426	1095	1	0	0	1	0.000456413	.	.	.	3570650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00629318252559	7.7e-05	.	4.132e-05	0.0005	0	0	0	0	0	0	3.23e-05	5	154602	rs377302946	2.873e-05	2.873e-05	2.586e-05	3.163e-05	0.0004	2.151e-05	1.908e-05	0.0002	0.0002	0.0004	0	0	0	0	0	5.396e-06	0.0004	1.159e-05	5.911e-05	5.907e-05	6.425e-05	5.374e-05	0.0002	3.076e-05	2.209e-05	9.542e-05	6.946e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.968	0.71741	D	.	.	.	.	0.883262	0.35795	D	3.14	0.88230	M	7.03	0.00453	T	-8.14	0.96736	D	0.352	0.39356	-0.9151	0.46207	T	0.005	0.01651	T	9	0.2730757	0.44854	T	0.006293	0.16522	T	0.076	0.22200	.	.	0.523444149082	0.51990	0.3698716564375882	0.36901	0.0163493297543	0.01574	0.330320894718	0.14983	T	0.009716	0.08828	T	-0.363009	0.03963	T	-0.453237	0.27339	T	0.431353978343276	0.30111	T	0.874613	0.58533	D	0.46433145	0.64941	0.6290757	0.78367	0.46433145	0.64941	0.6290757	0.78368	-6.475	0.50093	T	.	.	0.096	0.15430	B	.;.;.	.;.;.	3.608339	0.50997	23.0	0.99663350843767484	0.78074	0.72550	0.35507	D	AEFBHCI	0.392376	0.47045	N	0.405833151990645	0.61743	4.379544	0.258726197702562	0.53145	3.485119	0.00335562551860974	0.10072	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.88	2.41	0.28644	1.889000	0.39352	1.353000	0.25823	-0.057000	0.16691	0.795000	0.29657	0.121000	0.22902	0.955000	0.50612	0.824:0.0:0.176:0.0	8.097	0.29996	866	0.32446	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1617.83	102	chr7	144074575	.	A	G	1617.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.68;DP=506;ExcessHet=0;FS=0.633;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.348;SOR=0.759	GT:AD:DP:GQ:PL	0/1:78,59:137:99:1628,0,2049	5	0	1	0
chr7	147044015	147044015	C	T	exonic	CNTNAP2	.	unknown	UNKNOWN	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	.	.	.	.	.	.	.	.	.	.	635850	not_specified|Cortical_dysplasia-focal_epilepsy_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.776	0.743037369054	7.7e-05	.	4.118e-05	0	8.637e-05	0	0	5.994e-05	0	0	3.23e-05	5	154602	rs375032955	3.147e-05	3.147e-05	2.314e-05	3.988e-05	0.0003	2.412e-05	2.158e-05	6.092e-05	2.521e-05	0	8.944e-05	0	0	0	0.0003	3.327e-05	4.968e-05	0	5.257e-05	5.254e-05	5.14e-05	5.38e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	6.548e-05	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.91	0.64641	D	0.011600	0.29474	N	0.205057	0.61318	0.32639	D	3.03	0.86425	M	-4.86	0.98263	D	-5.65	0.86988	D	0.878	0.87590	1.063	0.98415	D	0.957	0.98612	D	10	0.93919224	0.93246	D	0.743037	0.97944	D	0.776	0.92501	.	.	0.921655970581	0.92086	0.5921860038201401	0.59148	0.553458847318	0.52117	0.259106755257	0.04785	T	0.893348	0.97851	D	0.119306	0.66303	D	0.125281	0.78583	D	0.859313607215881	0.50989	D	0.924807	0.72410	D	0.5249502	0.68543	0.3726928	0.62472	0.4613261	0.64754	0.34786832	0.60434	-12.257	0.86080	D	.	.	0.314	0.54071	B	.;.	.;.	4.959477	0.81993	27.7	0.99914222276497067	0.98309	0.95977	0.66979	D	AEFI	0.698999	0.65649	D	0.599252172019041	0.73129	5.915799	0.520470853961526	0.69370	5.350518	0.00669783986257984	0.11284	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.47	5.47	0.80345	3.000000	0.49169	3.935000	0.40562	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.789000	0.37270	0.1621:0.8378:0.0:0.0	12.938	0.57722	946	0.12043	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal 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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2106.06	37	chr7	147044015	.	C	T	2106.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.18;DP=303;ExcessHet=0.4139;FS=1.974;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=2;SOR=0.886	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1111,0,879	4	0	2	0
chr7	149492969	149492969	T	C	exonic	ZNF746	.	nonsynonymous SNV	ZNF746:NM_001163474:exon4:c.A410G:p.Y137C,ZNF746:NM_001363517:exon4:c.A455G:p.Y152C,ZNF746:NM_152557:exon4:c.A410G:p.Y137C	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0189160126902	.	0.000399361	0.0002	0.0001	0.0003	0	0	0.0003	0	0.0002	0.0002005	31	154602	rs367694089	0.0002	0.0002	0.0002	0.0002	0.0068	0.0002	0.0002	0.0051	0.0045	0.0004	0.0004	0	0	0	0.0068	0.0001	0.0006	0.0001	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0012	0.0010	2.408e-05	0	0.0017	0	0	0	0	0.0002	0.0005	0	0.004	0.68238	D	0.036	0.52389	D	0.999	0.77913	D	0.995	0.83170	D	0.000867	0.41335	D	0.000000	0.991291	0.41354	D	1.075	0.27130	L	5.63	0.00800	T	-6.2	0.90371	D	0.569	0.59816	-0.5558	0.66565	T	0.008	0.02842	T	10	0.0501166	0.04697	T	0.018916	0.41136	T	0.128	0.35103	.	.	0.387689773709	0.38380	0.298950773867413	0.29808	1.76612806109	0.91193	0.760063707829	0.75939	T	0.136133	0.46834	T	-0.279822	0.10686	T	-0.342162	0.40100	T	0.140211425573068	0.16294	T	0.276272	0.05963	T	0.40703702	0.61217	0.35175222	0.60764	0.40703702	0.61218	0.35175222	0.60764	-6.325	0.48920	T	.	.	0.686	0.79605	P	.;.;.;.	.;.;.;.	3.881342	0.56413	23.7	0.99338666480467264	0.60091	0.60536	0.31223	D	AEFBCI	0.186218	0.31353	N	-0.0228799816615872	0.40821	2.430861	0.0232143051778615	0.40794	2.440404	0.963454690115732	0.28692	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	0.333000	0.19512	7.831000	0.70117	0.661000	0.55757	0.037000	0.20830	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	13.240	0.59420	946	0.12043	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	0.008560	0.010101	0.009511	0.014620	0.000000	0.025862	0.003049	0.000000	0.08333	1399.83	33	chr7	149492969	.	T	C	1399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.39;DP=266;ExcessHet=0;FS=1.882;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-1.397;SOR=0.495	GT:AD:DP:GQ:PL	0/1:47,50:97:99:1410,0,1288	5	0	1	0
chr7	150792109	150792109	C	G	exonic	TMEM176B	.	nonsynonymous SNV	TMEM176B:NM_001101314:exon5:c.G556C:p.V186L,TMEM176B:NM_001101311:exon6:c.G667C:p.V223L,TMEM176B:NM_001101312:exon6:c.G667C:p.V223L,TMEM176B:NM_014020:exon6:c.G667C:p.V223L,TMEM176B:NM_001362691:exon7:c.G715C:p.V239L,TMEM176B:NM_001362692:exon7:c.G715C:p.V239L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00338342571973	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs748680887	2.052e-06	2.052e-06	2.723e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.087	0.40747	T	0.019	0.17989	B	0.014	0.16862	B	0.061520	0.02146	N	2.427640	0.999998	0.08975	N	0.895	0.22405	L	4.48	0.02067	T	-1.18	0.30140	N	0.191	0.21056	-0.9487	0.41194	T	0.005	0.01688	T	10	0.15267116	0.28832	T	0.003383	0.07572	T	0.044	0.11924	0.496	0.58520	0.0920862733494	0.08535	0.20194187835753313	0.20111	0.0421810079997	0.04541	0.380210757256	0.22286	T	0.030183	0.21454	T	-0.322283	0.06712	T	-0.685227	0.06669	T	0.09103004539089	0.11340	T	0.475152	0.14192	T	0.068936415	0.15061	0.08737017	0.20305	0.068936415	0.15061	0.08737017	0.20304	-3.853	0.21599	T	.	.	0.132	0.32372	B	.;.;.;.;.;.	.;.;.;.;.;.	2.557268	0.33111	19.24	0.90065399135923163	0.19350	0.60282	0.31151	D	AEFGBIJ	0.370397	0.45678	N	-0.848076745814986	0.12097	0.5876317	-0.733840087328969	0.16120	0.8512582	0.957204245735505	0.28290	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.56	1.64	0.22949	0.781000	0.26435	1.868000	0.29368	-0.202000	0.08738	1.000000	0.71638	0.950000	0.28999	0.591000	0.31164	0.0:0.7124:0.0:0.2876	5.393	0.15554	735	0.53711	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	3188.06	33	chr7	150792109	.	C	G	3188.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.32;DP=424;ExcessHet=0.4139;FS=3.242;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.357;SOR=0.885	GT:AD:DP:GQ:PL	0/1:89,74:163:99:1907,0,2170	4	0	2	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	0.5	3604.55	165	chr7	152229940	.	A	G	3604.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.209;DP=1278;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=44.77;MQRankSum=0.622;QD=2.86;ReadPosRankSum=0.458;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:161,52:213:99:.:.:719,0,5797:.	0	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.1667	79.06	49	chr7	152235831	.	C	G	79.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.48;DP=331;ExcessHet=0.4139;FS=19.603;MLEAC=2;MLEAF=0.167;MQ=50.95;MQRankSum=-2.334;QD=0.64;ReadPosRankSum=-1.322;SOR=2.81	GT:AD:DP:GQ:PL	0/1:62,7:69:27:27,0,2515	4	0	2	0
chr7	154976079	154976079	C	A	exonic	PAXIP1	.	nonsynonymous SNV	PAXIP1:NM_007349:exon6:c.G691T:p.D231Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00811914618362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.029	0.54541	D	0.996	0.68779	D	0.859	0.61184	P	0.029568	0.25434	U	0.266177	0.997577	0.22602	N	1.95	0.52479	M	1.43	0.32958	T	-1.92	0.44657	N	0.275	0.31140	-1.0610	0.11508	T	0.111	0.39982	T	10	0.20223606	0.36336	T	0.008119	0.21521	T	0.129	0.35316	.	.	0.370276754211	0.36643	0.14827114439747635	0.14749	0.637711510295	0.57507	0.351574510336	0.18153	T	0.158234	0.50117	T	-0.0876837	0.38458	T	-0.363728	0.37620	T	0.666096091270447	0.39164	D	0.790321	0.43084	T	0.09780862	0.23060	0.08324678	0.19062	0.09780862	0.23059	0.08324678	0.19061	-8.117	0.61865	D	.	.	0.118	0.23986	B	.;.	.;.	3.322947	0.45711	22.2	0.99294473717452003	0.58397	0.89750	0.50418	D	AEFBI	0.222739	0.34719	N	0.00576460191605477	0.42116	2.531647	-0.056420237565384	0.37214	2.175874	0.999692226828802	0.41870	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.64	3.75	0.42236	3.636000	0.54058	2.376000	0.32458	0.549000	0.26987	0.996000	0.39380	0.079000	0.22353	0.994000	0.71098	0.0:0.828:0.0:0.172	8.831	0.34241	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	281.83	34	chr7	154976079	.	C	A	281.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.142;DP=272;ExcessHet=0;FS=73.496;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.03;ReadPosRankSum=0.047;SOR=5.889	GT:AD:DP:GQ:PL	0/1:52,18:70:99:292,0,1446	5	0	1	0
chr8	1909390	1909390	G	A	exonic	ARHGEF10	.	nonsynonymous SNV	ARHGEF10:NM_001308152:exon17:c.G1949A:p.S650N,ARHGEF10:NM_014629:exon18:c.G2063A:p.S688N,ARHGEF10:NM_001308153:exon19:c.G2135A:p.S712N	.	0	1503	19	0	0	19	0.00628099	.	.	.	361190	not_provided|Autosomal_dominant_slowed_nerve_conduction_velocity|not_specified	MedGen:C3661900|MONDO:MONDO:0011998,MedGen:C1842357,OMIM:608236,Orphanet:140481|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00454202123999	0.0006	0.000399361	0.0008	9.614e-05	0.0015	0	0.0002	0.0011	0.0033	0.0007	0.0007827	121	154602	rs143290224	0.0006	0.0006	0.0006	0.0007	0.0135	0.0006	0.0006	0.0111	0.0102	0.0010	0.0019	0	0	3.75e-05	0.0135	0.0005	0.0016	0.0008	0.0008	0.0008	0.0008	0.0008	0.0043	0.0007	0.0006	0.0035	0.0032	0.0002	0	0.0043	0	0	0	0	0.0006	0.0024	0.0002	0.372	0.17014	T	0.374	0.16914	T	0.002	0.09854	B	0.013	0.16460	B	0.887705	0.07275	N	1.057830	1	0.08975	N	0.15	0.08895	N	2.23	0.18083	T	-0.8	0.22078	N	0.081	0.09914	-0.9764	0.35816	T	0.037	0.15770	T	10	0.0051074624	0.00111	T	0.004542	0.11189	T	0.077	0.22490	.	.	0.134241683229	0.13084	0.21262784305416427	0.21178	0.0324232225892	0.03388	0.353598922491	0.18450	T	0.028301	0.20534	T	-0.687676	0.00043	T	-0.767839	0.02839	T	0.0121567051769111	0.00194	T	.	.	.	0.029185459	0.02373	0.044929598	0.05932	0.03713525	0.04704	0.042660918	0.05131	-6.413	0.51068	T	.	.	0.076	0.05756	B	.;.;.;.;.	.;.;.;.;.	-0.158695	0.03307	0.574	0.78395020267440041	0.12282	0.14466	0.18418	N	AEFDBI	0.059294	0.11189	N	-1.33759350455826	0.03255	0.1450981	-1.4347312478848	0.02911	0.13482	0.980101808749081	0.30099	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.07	-5.54	0.02343	1.899000	0.39450	0.335000	0.17323	-0.633000	0.04490	0.029000	0.20367	0.000000	0.08366	0.000000	0.00833	0.1465:0.131:0.7225:0.0	12.370	0.54581	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	0.018127	0.020202	0.024457	0.014620	0.000000	0.025862	0.009146	0.003788	0.1667	5635.06	78	chr8	1909390	.	G	A	5635.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.517;DP=689;ExcessHet=0.4139;FS=0.519;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=2.2;SOR=0.737	GT:AD:DP:GQ:PL	0/1:100,102:202:99:2595,0,2545	4	0	2	0
chr8	4032073	4032073	G	A	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon4:c.C442T:p.P148S	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.45715590753	.	0.000599042	0.0004	0	0	0	0	0	0	0.0029	0.0003299	51	154602	rs548910975	0.0002	0.0002	8.718e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0005	2.7e-06	0.0002	0.0026	4.597e-05	4.593e-05	3.856e-05	5.372e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000209	0.47681	U	0.000000	0.999985	0.54805	D	4.285	0.98199	H	-1.86	0.84341	D	-3.56	0.68880	D	0.881	0.88798	1.012	0.97391	D	0.869	0.95644	D	10	0.107593685	0.19992	T	0.457156	0.94447	D	0.759	0.91795	0.727	0.86111	0.876043322735	0.87483	0.36456096716508907	0.36370	.	.	0.771998405457	0.77724	T	0.044042	0.50720	T	-0.0534068	0.43929	T	0.146205	0.79945	D	0.368579609851239	0.27743	T	0.987401	0.95706	D	0.21455787	0.43865	0.23599079	0.48858	0.21455787	0.43865	0.23599079	0.48857	-11.095	0.80176	D	.	.	0.710	0.73359	P	.;.;.;.;.;.	.;.;.;.;.;.	4.849171	0.79243	27.1	0.99903761272077596	0.97502	0.98977	0.89442	D	AEFBI	0.933427	0.92532	D	1.04233275352767	0.96906	15.30791	0.911954005259741	0.96073	14.27186	0.999999254446152	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.663000	0.97879	11.330000	0.92539	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.0:1.0:0.0	18.415	0.90510	982	0.03397	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2189.06	33	chr8	4032073	.	G	A	2189.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.897;DP=318;ExcessHet=0.4139;FS=1.403;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.42;SOR=0.879	GT:AD:DP:GQ:PL	0/1:30,46:76:99:1248,0,697	4	0	2	0
chr8	7358418	7358418	C	T	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.G461A:p.R154H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.000431589808943	0.0002	.	4.144e-05	0	0	0.0001	0	4.498e-05	0	6.071e-05	3.23e-05	5	154602	rs201106758	5.762e-05	6.708e-05	5.188e-05	6.342e-05	0.0002	4.756e-05	4.378e-05	5.413e-05	4.055e-05	9.354e-05	2.237e-05	0	0.0001	0	0.0002	5.488e-05	6.652e-05	0.0001	6.676e-05	8.614e-05	9.149e-05	4.094e-05	0.0001	3.569e-05	2.755e-05	3.478e-05	2.001e-05	0.0001	0	6.555e-05	0	0	0	0	7.354e-05	0	0	0.056	0.38185	T	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.855	0.21307	L	3.1	0.08283	T	-0.18	0.09796	N	0.107	0.09207	-1.0224	0.22932	T	0.028	0.12103	T	7	0.07263368	0.10869	T	4.32E-4	0.00092	T	0.030	0.07022	.	.	0.0297737177859	0.01360	0.010430456923198913	0.01004	6.86557160948E-4	0.00063	0.369434833527	0.20750	T	0.011287	0.10090	T	-0.605448	0.00135	T	-0.815312	0.01550	T	0.0243425401637793	0.01188	T	0.151985	0.01292	T	0.041552395	0.06139	0.042928398	0.05224	0.041552395	0.06138	0.042928398	0.05224	-4.642	0.32695	T	.	.	0.106	0.19639	B	.	.	1.669900	0.21287	15.13	0.93816411370882002	0.23794	0.01142	0.04139	N	AEFBI	0.060797	0.11579	N	-0.66950268166808	0.16895	0.8647635	-0.891246952774332	0.12301	0.6319442	1.29785486134138E-6	0.01202	0.487112	0.14033	0	0.48864	0.07623	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.14	1.14	0.19817	-1.112000	0.03410	-5.588000	0.01665	0.226000	0.18113	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.6257:0.3743:0.0	5.214	0.14655	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	0.000594	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	6368.06	34	chr8	7358418	.	C	T	6368.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.68;DP=632;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.93;MQRankSum=0.086;QD=14.09;ReadPosRankSum=-0.183;SOR=0.707	GT:AD:DP:GQ:PL	0/1:105,115:220:99:3011,0,2483	4	0	2	0
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	169.0	111	chr8	10609948	.	C	T	169.0	.	AC=1;AF=0.5;AN=2;BaseQRankSum=-3.724;DP=687;ExcessHet=0;FS=171.753;MLEAC=2;MLEAF=1;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.473;SOR=6.735	GT:AD:DP:GQ:PL	0/1:136,16:164:99:173,0,5872	0	0	1	5
chr8	12137952	12137952	T	G	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.A809C:p.H270P	.	575	930	16	1	0	18	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00123841217267	.	0.00179712	0.0002	0	0.0004	0.0002	0	0.0001	0	0.0008	0.0003458	9	26028	rs551224100	0.0006	0.0031	0.0006	0.0005	0.0013	0.0005	0.0005	0.0008	0.0008	0.0005	0.0005	0.0004	0	0.0003	0.0013	0.0006	0.0006	0.0010	0.0003	0.0007	0.0003	0.0003	0.0013	0.0002	0.0002	0.0008	0.0007	0.0002	0	0.0013	0	0	0.0002	0	0.0002	0	0.0002	0.017	0.51248	D	0.002	0.79402	D	0.007	0.14184	B	0.003	0.08700	B	0.000463	0.44119	D	0.143175	1	0.08975	N	3.265	0.90016	M	1.53	0.30401	T	-7.99	0.96426	D	0.439	0.47765	-0.9017	0.47814	T	0.107	0.39051	T	10	0.017846763	0.00384	T	0.001238	0.01658	T	0.131	0.35738	.	.	0.383256108077	0.37933	0.06571566565063057	0.06510	0.582843186882	0.54023	0.553416967392	0.46339	T	0.008134	0.07480	T	-0.0987034	0.36640	T	-0.379557	0.35774	T	0.965151131153107	0.67179	D	0.233377	0.03180	T	0.6745935	0.76679	0.38457483	0.63395	0.6745935	0.76680	0.38457483	0.63395	-8.94	0.67310	D	.	.	0.627	0.69975	P	.	.	2.283964	0.29208	18.05	0.831239738730433	0.14555	0.03478	0.08638	N	AEFI	0.065702	0.12830	N	-0.645579563684511	0.17589	0.9063794	-0.857662995886589	0.13103	0.6779107	6.21968687468632E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	0.745	0.17509	2.995000	0.49129	2.197000	0.31255	0.301000	0.18947	0.540000	0.27267	0.029000	0.21193	0.009000	0.08673	0.0:0.0:0.0:1.0	3.861	0.08501	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003822	0.000000	0.000000	0.009709	0.000000	0.000000	0.000000	0.019231	0.2	270.93	.	chr8	12137952	.	T	G	270.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.76;DP=1137;ExcessHet=0.5115;FS=28.453;MLEAC=2;MLEAF=0.2;MQ=47.73;MQRankSum=-3.195;QD=0.55;ReadPosRankSum=-2.235;SOR=3.57	GT:AD:DP:GQ:PL	0/1:265,27:292:89:89,0,7373	3	0	2	1
chr8	24442522	24442522	G	T	exonic	ADAM7	.	nonsynonymous SNV	ADAM7:NM_003817:exon2:c.G102T:p.K34N	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00536651275596	0.0002	0.000599042	0.0003	0.0003	0.0003	0	0.0003	0.0003	0	0.0003	0.0002458	38	154602	rs146117431	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0046	0.0041	0.0003	0.0005	0	0	0.0002	0.0062	0.0004	0.0007	0.0002	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.542e-05	0	0	9.429e-05	0.0068	0.0004	0.0028	0.0002	0.027	0.63226	D	0.014	0.72224	D	0.922	0.51142	P	0.742	0.55764	P	0.492338	0.12043	N	0.737317	0.999999	0.08975	N	2.655	0.77738	M	3.22	0.07024	T	-3.51	0.68298	D	0.257	0.34767	-1.0768	0.07983	T	0.047	0.20195	T	10	0.05808127	0.06773	T	0.005367	0.13771	T	0.056	0.15993	0.731	0.86460	0.388812400583	0.38497	0.4512355964274962	0.45041	0.306425813064	0.32941	0.399008542299	0.24931	T	0.088831	0.43789	T	-0.53019	0.00383	T	-0.665208	0.07919	T	0.0554332700838893	0.06429	T	0.693931	0.30359	T	0.22774166	0.45480	0.19811907	0.43629	0.22774166	0.45480	0.19811907	0.43628	-5.604	0.53698	T	.	.	0.639	0.70478	P	.;.;.	.;.;.	2.383390	0.30594	18.49	0.99554569252469893	0.71335	0.06663	0.12681	N	AEFI	0.039053	0.05619	N	-0.173834730936027	0.34227	1.951068	-0.404993636500972	0.24850	1.36314	1.5213647629851E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	1.43	0.21585	0.722000	0.25595	0.691000	0.20763	0.671000	0.69459	0.034000	0.20669	0.120000	0.22892	0.636000	0.32315	0.359:0.0:0.641:0.0	5.864	0.18016	852	0.35056	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.013587	0.005848	0.000000	0.017241	0.003049	0.003788	0.08333	1279.83	34	chr8	24442522	.	G	T	1279.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.376;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.465;SOR=0.635	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1290,0,1127	5	0	1	0
chr8	38819828	38819828	C	T	exonic	TACC1	.	nonsynonymous SNV	TACC1:NM_001352779:exon3:c.C584T:p.A195V,TACC1:NM_001352781:exon3:c.C584T:p.A195V,TACC1:NM_001352782:exon3:c.C500T:p.A167V,TACC1:NM_001352783:exon3:c.C584T:p.A195V,TACC1:NM_001352784:exon3:c.C500T:p.A167V,TACC1:NM_001352800:exon3:c.C584T:p.A195V,TACC1:NM_006283:exon3:c.C584T:p.A195V,TACC1:NM_001352785:exon4:c.C476T:p.A159V,TACC1:NM_001352787:exon4:c.C476T:p.A159V,TACC1:NM_001352778:exon5:c.C632T:p.A211V,TACC1:NM_001352780:exon5:c.C632T:p.A211V,TACC1:NM_001352786:exon5:c.C449T:p.A150V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00730839127021	7.7e-05	.	4.193e-05	0	0	0.0002	0	4.588e-05	0	0	3.23e-05	5	154602	rs141798350	3.626e-05	3.625e-05	2.995e-05	4.264e-05	0.0002	2.828e-05	2.565e-05	9.928e-05	7.224e-05	0	0	0	0.0002	0	0	3.597e-05	4.968e-05	2.319e-05	2.626e-05	2.625e-05	1.285e-05	4.029e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.41e-05	0	0	0.264	0.38185	T	0.797	0.18505	T	0.948	0.53620	P	0.24	0.38599	B	0.064947	0.21916	N	0.450027	0.908708	0.36354	D	1.955	0.52871	M	2.92	0.11622	T	-0.71	0.30140	N	0.071	0.04426	-1.0126	0.26101	T	0.023	0.09741	T	10	0.06989983	0.10095	T	0.007308	0.19388	T	0.029	0.06676	.	.	0.477219869099	0.47349	0.10657005588258243	0.10587	0.103722506496	0.11733	0.321185529232	0.13602	T	0.025888	0.29277	T	-0.459401	0.00992	T	-0.597351	0.13034	T	0.0449086010402978	0.04586	T	0.752425	0.37456	T	0.027108183	0.01857	0.049043696	0.07411	0.027108183	0.01857	0.049043696	0.07410	-3.619	0.18132	T	.	.	0.103	0.18539	B	.;.;.;.	.;.;.;.	1.210289	0.16035	12.27	0.99580508249582644	0.72980	0.28238	0.23499	N	AEFBCIJ	0.099592	0.20045	N	-0.355073465728478	0.27087	1.483307	-0.39608743653814	0.25113	1.379171	0.99997853032476	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.13	3.32	0.37134	0.101000	0.15088	0.422000	0.18230	0.596000	0.33519	0.006000	0.17386	0.033000	0.21346	0.130000	0.19568	0.0:0.8232:0.0:0.1768	9.083	0.35726	622	0.65860	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1755.83	34	chr8	38819828	.	C	T	1755.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.9;DP=296;ExcessHet=0;FS=2.464;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=-0.05;SOR=0.893	GT:AD:DP:GQ:PL	0/1:47,65:112:99:1766,0,1217	5	0	1	0
chr8	47893277	47893277	C	T	exonic	PRKDC	.	nonsynonymous SNV	PRKDC:NM_001081640:exon31:c.G3709A:p.A1237T,PRKDC:NM_006904:exon31:c.G3709A:p.A1237T	Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive	0	1493	29	0	0	29	0.00961857	.	.	.	371922	PRKDC-related_disorder|Severe_combined_immunodeficiency_due_to_DNA-PKcs_deficiency|not_provided	.|MONDO:MONDO:0014423,MedGen:C4014833,OMIM:615966,Orphanet:317425|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.048	0.00427168699308	0.0006	0.000199681	0.0010	0.0004	0.0016	0	0	0.0013	0.0025	0.0006	0.0008344	129	154602	rs191531119	0.0007	0.0007	0.0007	0.0008	0.0278	0.0007	0.0007	0.0243	0.0229	0.0010	0.0009	0.0058	0	0	0.0278	0.0005	0.0018	0.0008	0.0006	0.0006	0.0007	0.0005	0.0007	0.0005	0.0005	0.0005	0.0004	7.218e-05	0	0.0007	0.0081	0	0	0.0102	0.0006	0.0033	0.0004	0.398	0.10553	T	0.406	0.14725	T	0.075	0.24198	B	0.08	0.28873	B	0.000423	0.44522	N	0.195454	0.987602	0.24499	N	.	.	.	4.37	0.02437	T	-0.9	0.24244	N	0.045	0.02559	-0.9225	0.45210	T	0.007	0.02360	T	9	0.00720194	0.00164	T	0.004272	0.10341	T	0.048	0.13305	.	.	0.288221626996	0.28429	0.2577901571421005	0.25693	0.160355348195	0.18093	0.289789557457	0.08891	T	0.114369	0.43213	T	-0.649918	0.00072	T	-0.75189	0.03413	T	0.0173658003147706	0.00475	T	0.760924	0.38541	T	0.027305225	0.01904	0.060164414	0.11413	0.033926997	0.03710	0.067229226	0.13879	-3.462	0.15904	T	0.3477253227131244	0.44515	0.082	0.08802	B	.;.	.;.	0.931801	0.13072	9.574	0.5586442457726889	0.05431	0.62056	0.31667	D	AEFDBI	0.062470	0.12011	N	-0.562255373657403	0.20101	1.057191	-0.509359093036359	0.21898	1.186849	0.326110412030161	0.19435	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	4.04	0.46262	1.696000	0.37392	1.058000	0.23696	-0.929000	0.02155	0.800000	0.29721	0.483000	0.25112	0.005000	0.06747	0.18:0.5942:0.0:0.2258	5.078	0.13978	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027694	0.020202	0.036685	0.070175	0.000000	0.008621	0.009146	0.000000	0.08333	1729.83	34	chr8	47893277	.	C	T	1729.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.547;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.462;SOR=0.741	GT:AD:DP:GQ:PL	0/1:51,69:120:99:1740,0,1240	5	0	1	0
chr8	61567194	61567194	C	T	exonic	ASPH	.	nonsynonymous SNV	ASPH:NM_001164750:exon17:c.G1187A:p.R396H,ASPH:NM_004318:exon17:c.G1274A:p.R425H	Traboulsi syndrome, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	4074158	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0431648805798	.	.	0.0001	0	0	0	0	1.502e-05	0.0011	0.0008	0.0001035	16	154602	rs571146931	6.637e-05	6.635e-05	3.676e-05	9.627e-05	0.0009	5.563e-05	5.153e-05	0.0007	0.0007	0	6.714e-05	3.827e-05	0	1.874e-05	0.0002	1.169e-05	1.656e-05	0.0009	5.911e-05	5.906e-05	1.285e-05	0.0001	0.0012	3.076e-05	2.209e-05	0.0005	0.0004	2.406e-05	0	0	0	0	9.423e-05	0	1.47e-05	0	0.0012	0.021	0.49117	D	0.051	0.48855	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	1.01	0.41058	T	-2.95	0.62151	D	0.837	0.83269	-0.4296	0.71080	T	0.307	0.67786	T	10	0.43067628	0.57469	T	0.043165	0.60843	D	0.280	0.59740	0.437	0.48993	0.53055931775	0.52705	0.7147014716526148	0.71413	0.289078124948	0.31315	0.647467672825	0.59627	T	0.668709	0.90142	D	-0.191746	0.22002	T	-0.104554	0.63043	T	0.38718221806595	0.28457	T	0.970503	0.89388	D	0.33491254	0.55871	0.16884743	0.38875	0.36191088	0.57982	0.1836531	0.41368	-7.792	0.60215	D	.	.	0.362	0.57405	A	.;.	.;.	4.381602	0.67539	25.1	0.99940281156977084	0.99767	0.97777	0.77057	D	AEFBI	0.840053	0.75739	D	0.846112725300693	0.88885	9.750051	0.807951823909868	0.90341	10.36314	0.999999999999625	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	7.088000	0.76565	7.610000	0.61877	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	19.701	0.96050	751	0.51694	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	.	.	.	.	.	.	.	.	0.08333	1322.83	33	chr8	61567194	.	C	T	1322.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.136;DP=268;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.696;SOR=0.57	GT:AD:DP:GQ:PL	0/1:43,53:96:99:1333,0,1022	5	0	1	0
chr8	66664818	66664818	C	A	exonic	VCPIP1	.	nonsynonymous SNV	VCPIP1:NM_025054:exon1:c.G2141T:p.R714I	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0692960819431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.216e-06	8.893e-06	8.175e-06	8.257e-06	0.0009	4.38e-06	3.46e-06	0.0003	0.0002	0	0	0	0	0	0.0009	1.799e-06	0	5.806e-05	6.573e-06	1.313e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	0.995	0.67487	D	0.854	0.60866	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.955	0.52871	M	1.02	0.40749	T	-3.12	0.63782	D	0.863	0.85979	-0.6988	0.60495	T	0.221	0.58421	T	10	0.7825818	0.77978	D	0.069296	0.70689	D	0.326	0.64826	0.354	0.35408	0.426039362998	0.42221	0.4043971821929618	0.40355	2.12007149357	0.94997	0.731780827045	0.71767	T	0.280155	0.65286	T	0.259128	0.79448	D	0.134443	0.79182	D	0.986955583095551	0.77550	D	0.951605	0.81505	D	0.44765878	0.63893	0.4944496	0.70761	0.44765878	0.63894	0.4944496	0.70761	-4.036	0.24341	T	.	.	0.469	0.63152	A	.	.	4.230721	0.64060	24.7	0.97829207487943004	0.36246	0.96322	0.68572	D	AEFDBHCI	0.909541	0.86632	D	0.774294355424997	0.84476	8.298069	0.785139113486422	0.88742	9.697551	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	5.55	5.55	0.83298	7.873000	0.85565	7.737000	0.67919	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.503	0.95094	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1297.83	34	chr8	66664818	.	C	A	1297.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.622;DP=291;ExcessHet=0;FS=0.706;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=2.88;SOR=0.776	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1308,0,1640	5	0	1	0
chr8	79765222	79765222	T	C	exonic	HEY1	.	nonsynonymous SNV	HEY1:NM_001282851:exon2:c.A611G:p.Y204C,HEY1:NM_001040708:exon5:c.A893G:p.Y298C,HEY1:NM_012258:exon5:c.A881G:p.Y294C	.	406	1111	5	0	0	5	0.00224517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.0384978591394	7.8e-05	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0004	7.12e-05	11	154602	rs368116797	0.0001	0.0001	9.582e-05	0.0001	0.0012	9.095e-05	8.56e-05	0.0006	0.0004	0	5.591e-05	0	0	0	0.0012	9.08e-05	0.0002	0.0003	0.0001	0.0001	6.422e-05	0.0002	0.0017	7.085e-05	5.742e-05	0.0008	0.0006	7.214e-05	0	6.531e-05	0	0	0	0	7.35e-05	0	0.0017	0.001	0.78490	D	0.012	0.63918	D	1.0	0.90584	D	0.962	0.73820	D	0.000007	0.62929	D	0.112006	0.999999	0.58761	D	2.65	0.77586	M	-0.06	0.63568	T	-4.14	0.75220	D	0.802	0.80767	-0.3818	0.72595	T	0.377	0.73460	T	10	0.39502704	0.55164	T	0.038498	0.58257	D	0.511	0.79033	.	.	0.468253496145	0.46452	0.8408217831765497	0.84042	1.57728761444	0.88332	0.77704834938	0.78483	T	0.820556	0.95608	D	-0.00157192	0.51438	T	0.0761216	0.75318	D	0.276030961730142	0.24004	T	0.954405	0.86445	D	0.4538079	0.64282	0.4942938	0.70752	0.4538079	0.64283	0.4942938	0.70752	-10.542	0.77088	D	.	.	0.420	0.73784	A	.;.;.	.;.;.	4.723550	0.76007	26.4	0.98357096507713704	0.40608	0.80620	0.40210	D	ALL	0.896705	0.83805	D	0.67135035260691	0.77755	6.736281	0.682921084482786	0.81084	7.444421	0.999999999969529	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	5.79	5.79	0.91751	5.891000	0.69523	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.134	0.81282	918	0.19598	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000521	0.000000	0.001425	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	172.83	19	chr8	79765222	.	T	C	172.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.88;DP=153;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.17;ReadPosRankSum=0.492;SOR=0.569	GT:AD:DP:GQ:PL	0/1:19,9:28:99:183,0,544	5	0	1	0
chr8	81671002	81671002	G	A	exonic	IMPA1	.	nonsynonymous SNV	IMPA1:NM_005536:exon7:c.C503T:p.T168I,IMPA1:NM_001144878:exon8:c.C680T:p.T227I	Mental retardation, autosomal recessive 59, Autosomal recessive	439	1072	9	2	0	13	0.00602689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0161915108403	0.0002	0.000399361	0.0009	0	0	0	0	0.0002	0	0.0055	0.0007374	114	154602	rs148950764	0.0004	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0041	0.0039	7.169e-05	0.0002	0	0	0	0.0048	0.0001	0.0005	0.0045	0.0003	0.0003	0.0003	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	7.221e-05	0	0.0005	0	0	0	0	0.0003	0.0005	0.0025	0.003	0.68238	D	0.009	0.66756	D	0.088	0.25022	B	0.068	0.27651	B	0.201186	0.16596	N	0.625996	1	0.81001	D	1.165	0.29723	L	0.66	0.52416	T	-1.98	0.51478	N	0.237	0.26717	-1.0029	0.29080	T	0.094	0.35738	T	10	0.011553228	0.00252	T	0.016192	0.37323	T	0.036	0.09122	.	.	0.660644780661	0.65780	0.5545667876305154	0.55383	0.123502751491	0.13904	0.396727532148	0.24614	T	0.400385	0.75798	T	-0.459902	0.00985	T	-0.432578	0.29643	T	0.0409013131765717	0.03854	T	0.89811	0.64401	D	0.33410552	0.55805	0.24734825	0.50263	0.37741506	0.59129	0.23773234	0.49076	-3.084	0.14896	T	.	.	0.229	0.47986	B	.;.;.;.	.;.;.;.	3.005572	0.40175	21.1	0.99238177236615399	0.56437	0.74076	0.36233	D	AEFBI	0.359663	0.44991	N	-0.243995322399795	0.31343	1.756549	-0.166132050605109	0.32791	1.869139	0.170529903057637	0.17729	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.16	2.08	0.26079	1.605000	0.36426	4.939000	0.46195	0.606000	0.46413	0.974000	0.34632	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.4757:0.5243	11.306	0.48570	688	0.59122	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.25	1459.03	34	chr8	81671002	.	G	A	1459.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.748;DP=268;ExcessHet=1.383;FS=2.755;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.482;SOR=0.594	GT:AD:DP:GQ:PL	0/1:35,31:66:99:660,0,837	3	0	3	0
chr8	120510028	120510028	G	A	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon17:c.G1978A:p.E660K	.	428	1093	1	0	0	1	0.000457247	0.9806	0.696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570	0.0179598390113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.07e-06	3.421e-06	1.374e-06	2.772e-06	1.175e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.814e-06	0	1.175e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	.	.	.	-3.07	0.63207	D	0.887	0.88577	-0.0235	0.81766	T	0.518	0.81995	D	9	0.9411557	0.93441	D	0.01796	0.39858	T	0.570	0.82516	0.838	0.94479	0.725936817495	0.72351	0.7280181308338061	0.72745	0.632153404959	0.57156	0.741351485252	0.73172	T	0.606423	0.87462	D	0.447906	0.92387	D	0.40561	0.92293	D	0.988552808761597	0.78871	D	0.935106	0.75644	D	0.7175712	0.79026	0.49818888	0.70985	0.7175712	0.79028	0.49818888	0.70985	-3.23	0.12851	T	.	.	0.477	0.63500	A	.	.	5.696218	0.93088	33	0.99898195821598712	0.97048	0.98798	0.86991	D	AEFI	0.884896	0.81495	D	0.931866818227949	0.93232	11.90467	0.928644507638938	0.96704	15.03473	0.999999999912543	0.74766	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	6.07	6.07	0.98675	8.442000	0.90177	11.627000	0.93669	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.659	0.99629	702	0.57624	MDN2-binding protein, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	635.83	33	chr8	120510028	.	G	A	635.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.926;DP=227;ExcessHet=0;FS=9.749;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-2.024;SOR=0.673	GT:AD:DP:GQ:PL	0/1:28,28:56:99:646,0,682	5	0	1	0
chr8	120517852	120517852	C	T	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon19:c.C2248T:p.L750F	.	434	1060	27	1	0	29	0.0134946	0.0213	0.172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0082	0.00539137	0.0081	0.0022	0.0048	0.0001	0.0020	0.0094	0.0067	0.0150	0.0079624	1231	154602	rs61753798	0.0097	0.0099	0.0096	0.0099	0.0132	0.0096	0.0096	0.0126	0.0123	0.0017	0.0057	0.0032	5.046e-05	0.0025	0.0092	0.0108	0.0081	0.0132	0.0068	0.0068	0.0068	0.0068	0.0114	0.0065	0.0063	0.0103	0.0101	0.0019	0	0.0064	0.0032	0.0002	0.0024	0.0136	0.0110	0.0081	0.0114	0.107	0.29554	T	0.13	0.34716	T	0.36	0.33860	B	0.139	0.33484	B	0.000226	0.47286	N	0.144353	0.999576	0.47641	D	2.545	0.74286	M	.	.	.	-1.96	0.45404	N	0.142	0.14196	-0.9822	0.34491	T	0.106	0.38611	T	9	0.0057896674	0.00129	T	.	.	.	0.036	0.09122	.	.	0.640041731404	0.63707	0.2528034314553507	0.25194	0.201326276818	0.22533	0.379101604223	0.22130	T	0.219499	0.58253	T	-0.528778	0.00390	T	-0.518704	0.20425	T	0.015199612315482	0.00333	T	0.785621	0.42343	T	0.08627172	0.20047	0.104997456	0.25231	0.08627172	0.20047	0.104997456	0.25230	-4.534	0.31330	T	.	.	0.094	0.14293	B	.	.	2.493602	0.32177	18.96	0.99774697825411618	0.86260	0.80009	0.39764	D	AEFBI	0.156271	0.28160	N	-0.148636852762372	0.35292	2.025314	-0.0770798766117348	0.36340	2.113589	0.00706565440859107	0.11376	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	2.7	0.31007	0.684000	0.25043	0.812000	0.21762	0.599000	0.40250	0.972000	0.34453	0.879000	0.27682	0.837000	0.39485	0.1233:0.6823:0.0:0.1944	7.558	0.27000	686	0.59327	MDN2-binding protein, 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	0.006546	0.000000	0.008152	0.005848	0.000000	0.000000	0.006098	0.015152	0.08333	889.83	52	chr8	120517852	.	C	T	889.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.697;DP=299;ExcessHet=0;FS=3.735;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-2.065;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,36:64:99:0|1:120517821_C_T:900,0,702:120517821	5	0	1	0
chr8	124010665	124010665	C	T	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon14:c.C1772T:p.T591I	.	428	1033	60	1	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0071	0.0131789	0.0097	0.0134	0.0047	0	0.0036	0.0064	0.0078	0.0322	0.0087838	1358	154602	rs151336286	0.0064	0.0064	0.0055	0.0072	0.0290	0.0063	0.0062	0.0281	0.0277	0.0130	0.0047	0.0022	0	0.0041	0.0162	0.0048	0.0075	0.0290	0.0080	0.0080	0.0083	0.0078	0.0264	0.0077	0.0075	0.0227	0.0212	0.0118	0	0.0105	0.0012	0	0.0031	0.0034	0.0057	0.0076	0.0264	0.099	0.30656	T	0.235	0.24767	T	0.0	0.02946	B	0.002	0.06944	B	0.107533	0.19567	N	0.460944	0.850161	0.35209	D	0.995	0.25082	L	-1.51	0.81399	D	-2.99	0.62151	D	0.22	0.24634	-0.7965	0.55350	T	0.231	0.59645	T	10	0.0048378706	0.00103	T	.	.	.	0.205	0.49236	.	.	0.154104182512	0.14974	0.5477211513146669	0.54698	0.118479470376	0.13338	0.444607198238	0.31207	T	0.138948	0.47272	T	-0.459616	0.00988	T	-0.410671	0.32148	T	0.0392810590565205	0.03561	T	0.578142	0.20837	T	0.07896309	0.18014	0.13668564	0.32693	0.07896309	0.18013	0.13668564	0.32692	-7.946	0.60701	D	.	.	0.118	0.24123	B	.	.	1.098005	0.14821	11.36	0.99163655309847987	0.54184	0.09839	0.15503	N	AEFGBHCI	0.051628	0.09138	N	-0.756144786044258	0.14467	0.7208705	-0.739194585284678	0.15987	0.8436258	0.99998999448841	0.51787	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	5.33	-1.02	0.09618	0.083000	0.14718	0.166000	0.15462	0.599000	0.40250	0.028000	0.20300	0.006000	0.19429	0.997000	0.79791	0.0:0.5131:0.0:0.4869	9.710	0.39404	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.012228	0.026316	0.000000	0.008621	0.015244	0.037879	0.08333	846.83	34	chr8	124010665	.	C	T	846.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.501;DP=239;ExcessHet=0;FS=1.013;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=2.64;SOR=0.481	GT:AD:DP:GQ:PL	0/1:29,32:61:99:857,0,807	5	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	207.59	102	chr8	132010871	.	G	C	207.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.486;DP=687;ExcessHet=1.383;FS=212.538;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.918;SOR=9.926	GT:AD:DP:GQ:PL	0/1:94,33:137:51:51,0,1415	2	0	3	1
chr8	132941380	132941380	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5071T:p.R1691C	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	736448	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0237823006837	7.7e-05	0.00139776	0.0009	9.61e-05	0.0002	0	0	1.498e-05	0.0011	0.0062	0.0007697	119	154602	rs375968742	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	4.472e-05	0	7.557e-05	0	0.0009	3.147e-05	0.0003	0.0066	0.0004	0.0004	0.0002	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0003	0	6.535e-05	0	0.0002	0	0	5.879e-05	0	0.0079	0.01	0.56456	D	0.05	0.48080	T	0.698	0.41805	P	0.132	0.33005	B	0.057643	0.22464	N	0.450057	0.992862	0.23812	N	1.355	0.33814	L	-0.12	0.64630	T	-0.83	0.22727	N	0.182	0.19728	-0.9853	0.33760	T	0.123	0.42547	T	10	0.00978145	0.00220	T	0.023782	0.46754	T	0.087	0.25287	.	.	0.718356697609	0.71587	0.25225084115544155	0.25139	0.148518372193	0.16750	0.290816098452	0.09041	T	0.060231	0.31330	T	-0.509074	0.00508	T	-0.500301	0.22315	T	0.0602484494951213	0.07209	T	0.377862	0.09067	T	0.12642443	0.29612	0.040627	0.04433	0.12642443	0.29611	0.040627	0.04432	-7.936	0.60633	D	0.24692635108335825	0.33440	0.225	0.45714	B	.	.	1.766636	0.22469	15.63	0.99090510521380692	0.52198	0.37993	0.25887	N	AEFGBI	0.078775	0.15899	N	-0.515891887235795	0.21565	1.145462	-0.511119990078303	0.21851	1.184037	0.997341882661644	0.35520	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	0.561	0.16471	0.951000	0.28733	0.804000	0.21687	-0.043000	0.17390	0.967000	0.34061	0.000000	0.08366	0.615000	0.31768	0.4205:0.4254:0.1541:0.0	5.936	0.18405	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.1667	4559.06	34	chr8	132941380	.	C	T	4559.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.806;DP=511;ExcessHet=0.4139;FS=2.899;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.65;SOR=0.87	GT:AD:DP:GQ:PL	0/1:94,84:178:99:2023,0,2240	4	0	2	0
chr8	140702673	140702673	G	A	exonic	PTK2	.	nonsynonymous SNV	PTK2:NM_001352749:exon4:c.C194T:p.A65V,PTK2:NM_001352750:exon4:c.C194T:p.A65V,PTK2:NM_001352751:exon4:c.C194T:p.A65V,PTK2:NM_001352752:exon4:c.C194T:p.A65V,PTK2:NM_001352728:exon23:c.C2156T:p.A719V,PTK2:NM_001352741:exon23:c.C1925T:p.A642V,PTK2:NM_001352745:exon23:c.C1838T:p.A613V,PTK2:NM_001352746:exon23:c.C1793T:p.A598V,PTK2:NM_001352694:exon24:c.C2264T:p.A755V,PTK2:NM_001352720:exon24:c.C2264T:p.A755V,PTK2:NM_001352742:exon24:c.C1901T:p.A634V,PTK2:NM_001352744:exon24:c.C1856T:p.A619V,PTK2:NM_001199649:exon25:c.C2264T:p.A755V,PTK2:NM_001316342:exon25:c.C1964T:p.A655V,PTK2:NM_001352713:exon25:c.C2285T:p.A762V,PTK2:NM_001352715:exon25:c.C2282T:p.A761V,PTK2:NM_001352718:exon25:c.C2264T:p.A755V,PTK2:NM_001352719:exon25:c.C2264T:p.A755V,PTK2:NM_001352729:exon25:c.C2195T:p.A732V,PTK2:NM_001352733:exon25:c.C2027T:p.A676V,PTK2:NM_001352738:exon25:c.C1964T:p.A655V,PTK2:NM_001352739:exon25:c.C1946T:p.A649V,PTK2:NM_001352740:exon25:c.C1943T:p.A648V,PTK2:NM_005607:exon25:c.C2330T:p.A777V,PTK2:NM_153831:exon25:c.C2264T:p.A755V,PTK2:NM_001352696:exon26:c.C1964T:p.A655V,PTK2:NM_001352706:exon26:c.C2303T:p.A768V,PTK2:NM_001352711:exon26:c.C2300T:p.A767V,PTK2:NM_001352714:exon26:c.C2285T:p.A762V,PTK2:NM_001352717:exon26:c.C2282T:p.A761V,PTK2:NM_001352721:exon26:c.C2303T:p.A768V,PTK2:NM_001352725:exon26:c.C2264T:p.A755V,PTK2:NM_001352726:exon26:c.C2195T:p.A732V,PTK2:NM_001352727:exon26:c.C2303T:p.A768V,PTK2:NM_001352730:exon26:c.C2048T:p.A683V,PTK2:NM_001352732:exon26:c.C2048T:p.A683V,PTK2:NM_001352734:exon26:c.C2048T:p.A683V,PTK2:NM_001352735:exon26:c.C1985T:p.A662V,PTK2:NM_001352736:exon26:c.C1979T:p.A660V,PTK2:NM_001352737:exon26:c.C2027T:p.A676V,PTK2:NM_001352743:exon26:c.C1964T:p.A655V,PTK2:NM_001352747:exon26:c.C842T:p.A281V,PTK2:NM_001352695:exon27:c.C2366T:p.A789V,PTK2:NM_001352700:exon27:c.C2387T:p.A796V,PTK2:NM_001352704:exon27:c.C2366T:p.A789V,PTK2:NM_001352705:exon27:c.C2342T:p.A781V,PTK2:NM_001352707:exon27:c.C2303T:p.A768V,PTK2:NM_001352708:exon27:c.C2303T:p.A768V,PTK2:NM_001352709:exon27:c.C2303T:p.A768V,PTK2:NM_001352710:exon27:c.C2303T:p.A768V,PTK2:NM_001352716:exon27:c.C2279T:p.A760V,PTK2:NM_001352722:exon27:c.C2303T:p.A768V,PTK2:NM_001352723:exon27:c.C2303T:p.A768V,PTK2:NM_001352724:exon27:c.C2303T:p.A768V,PTK2:NM_001352731:exon27:c.C2048T:p.A683V,PTK2:NM_001352698:exon28:c.C2426T:p.A809V,PTK2:NM_001352699:exon28:c.C2387T:p.A796V,PTK2:NM_001352701:exon28:c.C2387T:p.A796V,PTK2:NM_001352702:exon28:c.C2387T:p.A796V,PTK2:NM_001352703:exon28:c.C2387T:p.A796V,PTK2:NM_001352712:exon29:c.C2387T:p.A796V,PTK2:NM_001352697:exon30:c.C2519T:p.A840V	.	426	1095	1	0	0	1	0.000456413	.	.	.	3318235	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.084	0.0336656385199	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403693308	3.421e-06	3.42e-06	0	6.876e-06	2.236e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	2.236e-05	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.57480	T	0.233	0.46632	T	0.026	0.26290	B	0.01	0.24114	B	0.000020	0.62929	D	0.154764	0.916959	0.81001	D	1.24	0.30952	L	-1.0	0.76300	T	-1.14	0.53258	N	0.308	0.40864	-0.7937	0.55514	T	0.219	0.58137	T	10	0.17611009	0.32577	T	0.033666	0.55143	D	0.084	0.24469	0.381	0.39807	0.692736788463	0.69009	0.5772086405088804	0.57649	0.396212701024	0.40736	0.440617203712	0.30661	T	0.395661	0.75449	T	-0.0619555	0.42600	T	-0.243906	0.50415	T	0.476059526205063	0.31753	T	0.975302	0.91244	D	0.10579689	0.25016	0.11695692	0.28235	0.10579689	0.25016	0.11695692	0.28234	-3.802	0.22423	T	.	.	0.088	0.24226	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.573782	0.50344	22.9	0.99591109573495984	0.73631	0.95854	0.66439	D	AEFGBI	0.792693	0.72091	D	-0.264873327607955	0.30515	1.702151	-0.0409517594977978	0.37884	2.224285	0.999992121856827	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	4.786000	0.62117	7.303000	0.58097	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0726:0.0:0.9274:0.0	14.334	0.66132	987	0.02648	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1163.83	35	chr8	140702673	.	G	A	1163.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.555;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.426;SOR=0.639	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1174,0,1329	5	0	1	0
chr8	144311740	144311740	C	G	exonic	HSF1	.	nonsynonymous SNV	HSF1:NM_005526:exon8:c.C764G:p.P255R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0336267536617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.101	0.38596	T	0.848	0.46844	P	0.806	0.58437	P	0.317462	0.14328	N	0.670270	0.994875	0.23423	N	2.28	0.64929	M	.	.	.	-1.71	0.40660	N	0.407	0.44761	-0.7841	0.56070	T	0.243	0.61166	T	9	0.40198365	0.55631	T	0.033627	0.55115	D	0.136	0.36778	0.747	0.87821	0.298199939746	0.29431	0.6439262590849925	0.64327	0.242549995712	0.26761	0.439696073532	0.30536	T	0.027924	0.49896	T	-0.0626062	0.42498	T	-0.327706	0.41724	T	0.715547566841686	0.41474	D	.	.	.	0.056793615	0.11220	0.098143965	0.23387	0.056793615	0.11219	0.098143965	0.23386	-5.96	0.45943	T	.	.	0.123	0.28892	B	.;.	.;.	3.033714	0.40645	21.2	0.99464674994888402	0.65996	0.63249	0.32031	D	AEFGBHCI	0.355638	0.44730	N	0.0311383048375782	0.43274	2.623706	-0.100983069984331	0.35352	2.04418	0.999999999999904	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	2.763000	0.47287	7.523000	0.59793	0.587000	0.30956	0.016000	0.19238	0.920000	0.28304	0.110000	0.18741	0.0:1.0:0.0:0.0	16.447	0.83777	946	0.12043	Vertebrate heat shock transcription factor, C-terminal domain;Vertebrate heat shock transcription factor, 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	.	.	.	.	.	.	.	.	0.08333	1601.83	35	chr8	144311740	.	C	G	1601.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.674;DP=357;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.671;SOR=0.642	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1612,0,1851	5	0	1	0
chr8	144522517	144522517	-	CCCGGC	exonic	LRRC24	.	nonframeshift insertion	LRRC24:NM_001024678:exon5:c.1499_1500insGCCGGG:p.G500_L501insPG	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0016	0.0014	0	0.0023	0	0.0011	0	0.0021	3.88e-05	6	154602	rs545249570	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0.0017	0.0001	0.0002	0.0003	0	0.0028	0.0001	0.0003	0.0009	0.0008	0.0008	0.0010	0.0006	0.0023	0.0007	0.0006	0.0019	0.0018	0.0023	0	0.0001	0	0.0002	0	0	0.0003	0.0010	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	758.79	33	chr8	144522517	.	T	TCCCGGC	758.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.573;DP=213;ExcessHet=0;FS=3.035;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-1.65;SOR=0.33	GT:AD:DP:GQ:PL	0/1:18,21:39:99:769,0,673	5	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	0.08333	1056.83	33	chr9	20929532	.	G	A	1056.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=1.35;SOR=0.718	GT:AD:DP:GQ:PL	0/1:76,45:121:99:1067,0,2002	5	0	1	0
chr9	35547812	35547823	CCAGGCCCTGGC	-	exonic	RUSC2	.	nonframeshift deletion	RUSC2:NM_001135999:exon2:c.1291_1302del:p.G432_P435del,RUSC2:NM_014806:exon2:c.1291_1302del:p.G432_P435del	.	423	1074	23	2	0	27	0.0124138	.	.	.	1648154	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0012	0.0003	0.0004	0.0003	0	0.0005	0	0.0064	1.29e-05	2	154602	rs749692537	0.0007	0.0007	0.0005	0.0009	0.0073	0.0007	0.0007	0.0056	0.0055	8.961e-05	0.0005	3.826e-05	0.0001	0	0.0073	0.0004	0.0009	0.0061	0.0005	0.0005	0.0004	0.0006	0.0069	0.0004	0.0004	0.0050	0.0044	7.229e-05	0	0.0005	0	0	0	0.0034	0.0005	0.0014	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6618.01	43	chr9	35547811	.	ACCAGGCCCTGGC	A	6618.01	.	AC=2;AF=0.167;AN=12;DP=364;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=29.27;SOR=0.881	GT:AD:DP:GQ:PL	1/1:0,149:149:99:6638,450,0	5	1	0	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3429.55	310	chr9	92080918	.	G	C	3429.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.955;DP=2102;ExcessHet=11.5949;FS=412.655;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.44;SOR=13.596	GT:AD:DP:GQ:PL	0/1:201,119:355:99:340,0,3478	0	0	6	0
chr9	98126721	98126721	C	T	exonic	CORO2A	.	nonsynonymous SNV	CORO2A:NM_003389:exon11:c.G1274A:p.R425Q,CORO2A:NM_052820:exon11:c.G1274A:p.R425Q	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0165203423516	0.0022	0.000599042	0.0023	0.0007	0.0022	0	0.0005	0.0033	0.0066	0.0008	0.0005175	80	154602	rs146552729	0.0029	0.0029	0.0030	0.0028	0.0085	0.0028	0.0028	0.0066	0.0059	0.0007	0.0022	0.0035	0	0.0003	0.0085	0.0033	0.0029	0.0012	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	0.0007	0	0.0024	0.0032	0	0.0003	0.0034	0.0034	0.0047	0.0015	0.43	0.09543	T	0.555	0.09267	T	0.001	0.07471	B	0.001	0.04355	B	0.413993	0.04608	N	1.359670	1	0.08975	N	0.145	0.08828	N	-0.57	0.71307	T	0.36	0.03700	N	0.116	0.10483	-1.0274	0.21299	T	0.082	0.32411	T	10	0.0040777028	0.00080	T	0.01652	0.37815	T	0.045	0.12272	.	.	0.461583377977	0.45782	0.13431117134133153	0.13355	0.244063042703	0.26914	0.182159513235	0.00115	T	0.019899	0.15767	T	-0.613249	0.00121	T	-0.654186	0.08663	T	0.0019479975708776	0.00020	T	0.40026	0.10182	T	0.0133296875	0.00056	0.020996915	0.00167	0.0133296875	0.00055	0.020996915	0.00167	-3.828	0.21223	T	.	.	0.067	0.03661	B	.;.	.;.	-2.058268	0.00089	0.002	0.60507674706301029	0.06480	0.00152	0.00917	N	AEFBI	0.031559	0.03400	N	-2.19257247478286	0.00080	0.003414471	-2.2567319725513	0.00083	0.003661872	0.999999999958102	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.17	-10.3	0.00281	-3.035000	0.00699	-4.221000	0.02273	-2.817000	0.00181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2532:0.1057:0.0854:0.5557	3.694	0.07888	722	0.55239	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.005051	0.010870	0.005848	0.050000	0.017241	0.009146	0.000000	0.08333	700.83	34	chr9	98126721	.	C	T	700.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.34;SOR=0.789	GT:AD:DP:GQ:PL	0/1:41,29:70:99:711,0,970	5	0	1	0
chr9	104127290	104127290	C	T	exonic	SMC2	.	nonsynonymous SNV	SMC2:NM_001042550:exon20:c.C2600T:p.S867L,SMC2:NM_001042551:exon20:c.C2600T:p.S867L,SMC2:NM_001265602:exon20:c.C2600T:p.S867L,SMC2:NM_006444:exon20:c.C2600T:p.S867L	.	464	1050	7	1	0	9	0.00426743	.	.	.	2826247	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.232	.	0.0037	0.0061901	0.0041	0.0054	0.0025	0	0.0002	0.0036	0.0047	0.0107	0.0039327	608	154602	rs11554260	0.0037	0.0037	0.0035	0.0038	0.0087	0.0036	0.0035	0.0082	0.0080	0.0057	0.0034	0.0140	2.554e-05	0.0002	0.0074	0.0033	0.0044	0.0087	0.0044	0.0044	0.0046	0.0041	0.0118	0.0041	0.0040	0.0094	0.0085	0.0061	0	0.0038	0.0138	0	9.486e-05	0.0034	0.0035	0.0061	0.0118	0.24	0.17701	T	0.228	0.25286	T	0.0	0.02946	B	0.001	0.04355	B	0.000403	0.44736	N	0.231204	0.830933	0.34917	D	1.095	0.27400	L	-1.14	0.77843	T	-3.26	0.65397	D	0.069	0.04188	-0.8385	0.52746	T	0.181	0.52889	T	10	0.004752964	0.00100	T	.	.	.	0.232	0.53354	.	.	0.326837869879	0.32287	0.21613856172506773	0.21529	0.104354662582	0.11803	0.316862046719	0.12946	T	0.403475	0.76021	T	-0.505113	0.00535	T	-0.492645	0.23114	T	0.0534391673143431	0.06095	T	0.766723	0.39447	T	0.10288271	0.24313	0.16452606	0.38109	0.10288271	0.24313	0.16452606	0.38108	-2.93	0.09446	T	.	.	0.069	0.04396	B	.;.;.	.;.;.	2.227053	0.28424	17.79	0.99249266645828593	0.56825	0.91202	0.53060	D	AEFBI	0.157243	0.28272	N	-0.544284284310448	0.20663	1.090942	-0.369521418850401	0.25912	1.427892	0.221798103411777	0.18363	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.05	2.04	0.25787	1.203000	0.31890	0.424000	0.18252	-0.182000	0.10109	0.978000	0.35038	0.034000	0.21380	0.955000	0.50612	0.0:0.7124:0.0:0.2876	9.848	0.40210	758	0.50837	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-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	0	0	1	0	0.005040	0.000000	0.010870	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	287.83	24	chr9	104127290	.	C	T	287.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=169;ExcessHet=0;FS=6.732;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.611;SOR=2.476	GT:AD:DP:GQ:PL	0/1:22,11:33:99:298,0,616	5	0	1	0
chr9	105773866	105773866	T	C	exonic	TMEM38B	.	nonsynonymous SNV	TMEM38B:NM_018112:exon6:c.T662C:p.I221T	Osteogenesis imperfecta, type XIV	431	1090	1	0	0	1	0.000458505	0.0025	0.04	.	1289535	not_provided|Osteogenesis_imperfecta|Osteogenesis_imperfecta_type_14	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MONDO:MONDO:0014029,MedGen:C3554428,OMIM:615066,Orphanet:666	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0125699326606	0.0002	.	0.0003	0	0.0002	0	0	0.0004	0.0033	0.0003	0.0002523	39	154602	rs201882609	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	6.035e-05	0.0002	0.0034	0	0	0.0017	0.0001	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0001	0.0001	0	0	0.0001	0.0037	0	0	0	0.0002	0.0005	0.0004	0.063	0.36709	T	0.262	0.22895	T	0.425	0.35474	B	0.192	0.36449	B	0.054881	0.22688	N	0.502200	0.707077	0.30049	N	1.64	0.41913	L	0.83	0.47815	T	-2.7	0.57599	D	0.251	0.28381	-0.9395	0.42695	T	0.096	0.36263	T	10	0.022871524	0.00583	T	0.01257	0.31260	T	0.162	0.41843	.	.	0.388174495139	0.38433	0.30291045580388926	0.30204	0.118623958842	0.13357	0.582552194595	0.50444	T	0.453524	0.79343	T	-0.305472	0.08153	T	-0.362307	0.37785	T	0.0406170578717652	0.03802	T	0.720728	0.33361	T	0.15174858	0.34481	0.15433234	0.36226	0.15174858	0.34481	0.15433234	0.36225	-3.484	0.16209	T	.	.	0.300	0.56031	B	.;.	.;.	2.816473	0.37091	20.4	0.9550207600030709	0.27094	0.88125	0.47917	D	AEFI	0.434898	0.49576	N	-0.0290732535172498	0.40542	2.409439	0.0572413986611293	0.42423	2.56568	0.0348817441288526	0.14175	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.7	4.7	0.58776	4.047000	0.57095	7.655000	0.63911	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.575000	0.30772	0.0:0.0:0.0:1.0	10.720	0.45232	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.08333	1364.83	35	chr9	105773866	.	T	C	1364.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.535;DP=269;ExcessHet=0;FS=0.795;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.496;SOR=0.546	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1375,0,1155	5	0	1	0
chr9	106925620	106925622	CCA	-	exonic	ZNF462	.	nonframeshift deletion	ZNF462:NM_001347997:exon3:c.1708_1710del:p.P571del,ZNF462:NM_021224:exon3:c.1708_1710del:p.P571del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.675e-05	0	0	0.0001	0	1.524e-05	0	0	1.29e-05	2	154602	rs781461843	6.159e-06	6.156e-06	5.447e-06	6.878e-06	1.16e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	1.16e-05	1.975e-05	1.971e-05	3.863e-05	0	2.945e-05	5.25e-06	2.46e-06	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2362.79	95	chr9	106925619	.	GCCA	G	2362.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.595;DP=389;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=0.493;SOR=0.649	GT:AD:DP:GQ:PL	0/1:44,60:104:99:2373,0,1656	5	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	1959.82	287	chr9	122724732	.	T	C	1959.82	.	AC=3;AF=0.5;AN=6;BaseQRankSum=8;DP=1745;ExcessHet=1.383;FS=37.334;MLEAC=4;MLEAF=0.667;MQ=58.6;MQRankSum=-14.14;QD=2.32;ReadPosRankSum=-6.488;SOR=5.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,44:345:99:0|1:122724732_T_C:798,0,12343:122724732	0	0	3	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	1323.54	264	chr9	122724738	.	T	C	1323.54	.	AC=3;AF=0.375;AN=8;BaseQRankSum=5.98;DP=1624;ExcessHet=1.383;FS=29.391;MLEAC=4;MLEAF=0.5;MQ=58.58;MQRankSum=-15.99;QD=1.63;ReadPosRankSum=-6.249;SOR=7.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,30:323:99:0|1:122724732_T_C:378,0,12208:122724732	1	0	3	2
chr9	127467789	127467789	G	A	exonic	LRSAM1	.	nonsynonymous SNV	LRSAM1:NM_001005374:exon9:c.G578A:p.C193Y,LRSAM1:NM_138361:exon9:c.G578A:p.C193Y,LRSAM1:NM_001005373:exon10:c.G578A:p.C193Y,LRSAM1:NM_001190723:exon10:c.G578A:p.C193Y,LRSAM1:NM_001384142:exon10:c.G578A:p.C193Y,LRSAM1:NM_001384143:exon10:c.G578A:p.C193Y	Charcot-Marie-Toothe disease, axonal, type 2P, Autosomal recessive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	2905925	Charcot-Marie-Tooth_disease_axonal_type_2P	Gene:431712,MONDO:MONDO:0013753,MedGen:C3280797,OMIM:614436,Orphanet:300319,Orphanet:99941	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.394	0.139919187679	.	.	4.782e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs755362254	1.509e-05	1.573e-05	6.824e-06	2.345e-05	0.0007	9.88e-06	8.44e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	4.981e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.998	0.90584	D	0.991	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.455	0.71248	M	1.1	0.76037	T	-4.92	0.81675	D	0.983	0.99337	0.174	0.85471	D	0.561	0.84017	D	10	0.8483082	0.84002	D	0.139919	0.82239	D	0.394	0.70924	0.502	0.59460	0.924981259947	0.92421	0.6252114783334944	0.62454	0.905084526563	0.70802	0.772437214851	0.77790	T	0.330594	0.70076	T	0.16872	0.71005	D	0.284013	0.87338	D	0.718091300473174	0.41603	D	0.812519	0.46414	T	0.69431233	0.77746	0.7641107	0.86065	0.69431233	0.77747	0.7641107	0.86066	-12.741	0.89001	D	0.8595735246969749	0.92342	0.863	0.80780	P	.;.;.;.	.;.;.;.	4.327022	0.66269	24.9	0.97928123434565739	0.36935	0.92773	0.56510	D	AEFDBI	0.593807	0.58899	D	0.606714426673848	0.73599	5.992449	0.535196802291282	0.70373	5.495862	0.999999939194206	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	5.866000	0.69342	11.829000	0.97466	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:0.0:1.0:0.0	14.809	0.69606	511	0.75131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1160.83	33	chr9	127467789	.	G	A	1160.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.74;DP=269;ExcessHet=0;FS=1.649;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.825;SOR=0.89	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1171,0,1251	5	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S	.	415	1082	24	1	0	26	0.0118721	.	.	.	458911	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|DYNC2I2-related_disorder|not_provided	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.009537	0.002924	0.000000	0.000000	0.009146	0.026515	0.08333	1661.83	40	chr9	128634837	.	C	T	1661.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.814;DP=326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.859;SOR=0.695	GT:AD:DP:GQ:PL	0/1:73,69:142:99:1672,0,1875	5	0	1	0
chr9	128908200	128908200	C	T	exonic	LRRC8A	.	nonsynonymous SNV	LRRC8A:NM_001127245:exon2:c.C1036T:p.R346C,LRRC8A:NM_001127244:exon3:c.C1036T:p.R346C,LRRC8A:NM_019594:exon3:c.C1036T:p.R346C	.	0	1520	2	0	0	2	0.000657462	.	.	.	1478122	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.0694811626327	7.7e-05	.	4.121e-05	9.636e-05	0.0002	0.0001	0	0	0	6.059e-05	3.23e-05	5	154602	rs369271984	6.157e-06	6.84e-06	2.723e-06	9.626e-06	0.0002	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	4.472e-05	0	0	0	0.0002	2.698e-06	0	3.478e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.871	0.61869	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	0.66	0.52416	T	-2.5	0.54382	D	0.904	0.90476	-0.7040	0.60246	T	0.214	0.57481	T	10	0.7333533	0.74450	D	0.069481	0.70741	D	0.404	0.71714	.	.	0.420780279148	0.41693	0.8817955407352295	0.88147	2.32877253769	0.96663	0.909889221191	0.97460	D	0.230636	0.59676	T	0.134422	0.67790	D	0.136839	0.79339	D	0.456321716308594	0.31030	T	0.823718	0.48487	T	0.34811455	0.56920	0.16889346	0.38884	0.34811455	0.56920	0.16889346	0.38883	-9.494	0.70821	D	.	.	0.314	0.54027	B	.;.;.	.;.;.	6.809482	0.95765	35	0.99894173817557952	0.96742	0.98624	0.84831	D	AEFDGBI	0.917241	0.88457	D	0.62612518602705	0.74831	6.200105	0.648695332793086	0.78515	6.891533	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.38	5.38	0.77279	6.162000	0.71691	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.119	0.89495	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3196.83	109	chr9	128908200	.	C	T	3196.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.79;DP=567;ExcessHet=0;FS=0.486;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-1.438;SOR=0.756	GT:AD:DP:GQ:PL	0/1:117,114:231:99:3207,0,2844	5	0	1	0
chr9	129100594	129100594	G	A	exonic	CRAT	.	nonsynonymous SNV	CRAT:NM_000755:exon7:c.C901T:p.R301C,CRAT:NM_001346547:exon7:c.C901T:p.R301C,CRAT:NM_001346549:exon7:c.C781T:p.R261C,CRAT:NM_001257363:exon8:c.C838T:p.R280C,CRAT:NM_001346546:exon8:c.C904T:p.R302C,CRAT:NM_001346548:exon8:c.C838T:p.R280C,CRAT:NM_004003:exon8:c.C838T:p.R280C	.	.	.	.	.	.	.	.	.	.	.	1361616	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.313	0.200675671909	.	0.000199681	2.493e-05	9.679e-05	0	0.0001	0	1.517e-05	0	0	2.59e-05	4	154602	rs199817861	2.531e-05	2.531e-05	2.042e-05	3.025e-05	0.0002	1.868e-05	1.631e-05	2.116e-05	1.862e-05	5.974e-05	0	0	2.519e-05	0	0.0002	2.968e-05	0	0	3.283e-05	3.281e-05	6.423e-05	0	4.41e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	9.418e-05	0	4.41e-05	0	0	0.133	0.26409	T	0.063	0.45110	T	0.148	0.27908	B	0.018	0.18489	B	0.012757	0.29068	N	0.377447	0.999998	0.58761	D	1.92	0.51302	L	-2.52	0.89363	D	-1.57	0.37955	N	0.23	0.25867	-0.1193	0.79650	T	0.533	0.82709	D	10	0.21005136	0.37387	T	0.200676	0.86722	D	0.313	0.63482	.	.	0.951723752701	0.95121	0.5567843786232453	0.55605	0.378242501895	0.39240	0.322201728821	0.13755	T	0.453842	0.79362	T	-0.124751	0.32350	T	-0.235444	0.51242	T	0.153634756803513	0.17389	T	0.805819	0.45382	T	0.10098695	0.23850	0.046363782	0.06445	0.10098695	0.23849	0.046363782	0.06445	-5.332	0.40259	T	.	.	0.143	0.31532	B	.	.	3.632908	0.51469	23.1	0.98508702460949893	0.42313	0.91824	0.54342	D	AEFDBHCI	0.695015	0.65383	D	-0.264935119983668	0.30511	1.701993	-0.1462658929996	0.33551	1.920441	0.999999999581928	0.74766	0.77792	0.99625	0	0.588066	0.40923	0	0.854111	0.99894	0	0.645665	0.59343	0	.	.	5.52	3.53	0.39533	3.231000	0.50995	8.110000	0.76588	-0.130000	0.13190	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0885:0.0:0.7044:0.2071	8.431	0.31920	819	0.41190	Choline/carnitine acyltransferase 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	.	.	.	.	.	.	.	.	0.08333	1312.83	38	chr9	129100594	.	G	A	1312.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.14;DP=303;ExcessHet=0;FS=5.947;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.649;SOR=0.342	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1323,0,1460	5	0	1	0
chr9	129803397	129803397	C	T	exonic	TOR1B	.	nonsynonymous SNV	TOR1B:NM_001317893:exon1:c.C185T:p.P62L,TOR1B:NM_001317894:exon1:c.C185T:p.P62L,TOR1B:NM_014506:exon1:c.C185T:p.P62L	.	.	.	.	.	.	.	.	.	.	.	2758211	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.677776144552	8.4e-05	.	3.033e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs149815190	3.449e-05	4.036e-05	2.289e-05	4.619e-05	0.0004	2.671e-05	2.362e-05	0.0002	0.0001	0	0	0	0	0	0.0004	2.036e-05	7.004e-05	0.0003	6.578e-06	1.314e-05	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.086	0.32610	T	0.693	0.05863	T	0.371	0.34093	B	0.166	0.35067	B	0.173085	0.17318	N	0.579375	0.953018	0.37811	D	1.385	0.34509	L	1.02	0.40749	T	-0.69	0.19720	N	0.242	0.27316	-0.7253	0.59200	T	0.225	0.58982	T	10	0.1688731	0.31463	T	0.677776	0.97325	D	0.064	0.18567	.	.	0.082315109003	0.07666	0.7222320929937025	0.72167	0.374703731158	0.38933	0.479672014713	0.36010	T	0.061503	0.31670	T	-0.422317	0.01654	T	-0.545469	0.17763	T	0.0374529769753555	0.03235	T	0.70443	0.31478	T	0.03548813	0.04187	0.031505056	0.01749	0.03548813	0.04187	0.031505056	0.01748	-4.341	0.28748	T	.	.	0.077	0.06387	B	.	.	2.525128	0.32633	19.10	0.94671559307701192	0.25297	0.31130	0.24260	N	ALL	0.119851	0.23373	N	-0.673746203078633	0.16772	0.8574616	-0.799082412027768	0.14518	0.7589503	0.999999999995027	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.851219	0.99655	0	0.621717	0.48901	0	.	.	5.21	-0.527	0.11314	0.050000	0.14004	-4.034000	0.02381	0.576000	0.29215	0.422000	0.26346	0.000000	0.08366	0.897000	0.43391	0.1123:0.2674:0.6203:0.0	13.788	0.62610	383	0.83590	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	688.83	37	chr9	129803397	.	C	T	688.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.459;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.41;SOR=0.655	GT:AD:DP:GQ:PL	0/1:20,26:46:99:699,0,480	5	0	1	0
chr9	130924266	130924266	C	G	exonic	FIBCD1	.	nonsynonymous SNV	FIBCD1:NM_032843:exon3:c.G683C:p.R228P,FIBCD1:NM_001145106:exon4:c.G683C:p.R228P	.	.	.	.	.	.	.	.	.	.	.	3955763	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.026475827874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.037	0.61642	D	0.999	0.77913	D	0.922	0.65739	D	0.283247	0.14905	U	0.494585	0.999649	0.48019	D	2.48	0.72069	M	0.53	0.55090	T	-1.89	0.52289	N	0.656	0.68342	-0.8483	0.52086	T	0.223	0.58652	T	10	0.35588616	0.52340	T	0.026476	0.49383	D	0.238	0.54217	0.324	0.30549	0.670683552153	0.66790	0.5279782251301384	0.52721	0.175173179804	0.19720	0.509348809719	0.40131	T	0.026697	0.19702	T	0.127366	0.67103	D	-0.0548241	0.66692	D	0.830098211765289	0.48538	D	0.832317	0.50011	T	0.41921788	0.62040	0.51757854	0.72127	0.41921788	0.62040	0.51757854	0.72127	-2.156	0.03832	T	.	.	0.115	0.29228	B	.;.;.;.	.;.;.;.	3.919874	0.57225	23.8	0.99692515333631837	0.80044	0.92809	0.56598	D	AEFDBI	0.758008	0.69678	D	0.152923705582399	0.48950	3.101058	0.0979685614948341	0.44448	2.726264	0.999999999740154	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.43	4.53	0.55009	2.409000	0.44236	3.164000	0.36582	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.9231:0.0:0.0769	13.184	0.59094	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	637.83	33	chr9	130924266	.	C	G	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.99;DP=212;ExcessHet=0;FS=4.255;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.153;SOR=1.402	GT:AD:DP:GQ:PL	0/1:20,29:49:99:648,0,387	5	0	1	0
chr9	131071515	131071515	C	A	exonic	LAMC3	.	nonsynonymous SNV	LAMC3:NM_006059:exon18:c.C3101A:p.T1034K	Cortical malformations, occipital, Autosomal recessive	0	1518	1	0	3	4	0.000329272	.	.	.	3987556	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0130854553877	.	.	8.251e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs149131135	2.737e-06	2.736e-06	1.361e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.018	0.59732	D	0.009	0.15093	B	0.007	0.12992	B	0.000271	0.46590	D	0.213426	0.992067	0.23941	N	0	0.06538	N	1.69	0.27032	T	-0.75	0.21003	N	0.327	0.36779	-1.0375	0.18078	T	0.031	0.13242	T	10	0.13143846	0.25016	T	0.013085	0.32199	T	0.063	0.18251	0.485	0.56780	0.42573502686	0.42190	0.744631176305514	0.74409	0.177814948833	0.20007	0.48523658514	0.36779	T	0.088497	0.38172	T	-0.172362	0.24878	T	-0.485362	0.23878	T	0.553429543972015	0.34606	D	0.462454	0.13421	T	0.11606121	0.27379	0.1341657	0.32155	0.11606121	0.27378	0.1341657	0.32154	-8.067	0.61526	D	.	.	0.176	0.38534	B	.	.	2.873663	0.38005	20.6	0.9632050356288967	0.29413	0.73524	0.35964	D	AEFDBI	0.622621	0.60687	D	-0.493349347134059	0.22298	1.189662	-0.28378092075406	0.28633	1.59793	0.999997542192619	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.34	4.2	0.48814	1.814000	0.38610	5.016000	0.46707	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0911:0.0:0.9089	8.261	0.30949	385	0.83500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	594.83	57	chr9	131071515	.	C	A	594.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=270;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.369;SOR=0.779	GT:AD:DP:GQ:PL	0/1:38,24:62:99:605,0,978	5	0	1	0
chr9	133354660	133354660	C	T	exonic	SURF1	.	nonsynonymous SNV	SURF1:NM_003172:exon4:c.G322A:p.D108N	Charcot-Marie-Tooth disease, type 4K, Autosomal recessive;Leigh syndrome, due to COX IV deficiency, Autosomal recessive, Mitochondrial	1	1520	1	0	0	1	0.000328839	0.7381	0.614	YES	211367	Inborn_genetic_diseases|Mitochondrial_complex_IV_deficiency,_nuclear_type_1|Charcot-Marie-Tooth_disease_type_4K|not_provided|Leigh_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0700250,MedGen:C5435656,OMIM:220110|MONDO:MONDO:0014733,MedGen:C4225246,OMIM:616684,Orphanet:391351|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.485	0.280796602461	.	.	3.305e-05	9.669e-05	0	0	0	1.504e-05	0	0.0001	3.84e-05	1	26028	rs863224226	8.833e-05	8.824e-05	9.947e-05	7.708e-05	0.0001	7.562e-05	7.108e-05	8.036e-05	7.491e-05	0.0001	0	0	2.519e-05	0	0	9.532e-05	0.0001	0.0001	7.229e-05	7.224e-05	5.139e-05	9.417e-05	0.0002	3.972e-05	3.128e-05	6.284e-05	4.301e-05	0.0001	0	6.547e-05	0	0	0	0	4.41e-05	0	0.0002	0.198	0.20532	T	0.284	0.21411	T	0.209	0.29944	B	0.03	0.21741	B	0.000003	0.62929	D	0.100816	1	0.81001	D	1.29	0.32370	L	-3.18	0.93111	D	-2.61	0.56144	D	0.587	0.60749	0.349	0.88327	D	0.711	0.90065	D	10	0.6787111	0.71149	D	0.280797	0.90223	D	0.485	0.77399	0.471	0.54537	0.969060000304	0.96872	0.562552114758547	0.56182	0.0368355658946	0.03901	0.545452475548	0.45216	T	0.836369	0.96142	D	-0.160673	0.26657	T	-0.231904	0.51587	T	0.24430713057518	0.22616	T	.	.	.	0.27051464	0.50123	0.2888304	0.54901	0.27051464	0.50123	0.2888304	0.54900	-5.89	0.45350	T	.	.	0.110	0.21353	B	.	.	4.110721	0.61369	24.3	0.99338035560059446	0.60051	0.98169	0.80199	D	AEFDBCI	0.895167	0.83490	D	0.0492559906345633	0.44107	2.690931	0.148416899308458	0.47058	2.94184	1.0	0.98316	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	7.231000	0.77575	5.836000	0.50206	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:1.0:0.0:0.0	17.328	0.87142	898	0.25240	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1028.83	34	chr9	133354660	.	C	T	1028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.03;DP=246;ExcessHet=0;FS=2.475;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=1.12;SOR=1.158	GT:AD:DP:GQ:PL	0/1:37,35:72:99:1039,0,1033	5	0	1	0
chr9	136407264	136407264	C	G	exonic	ENTR1	.	nonsynonymous SNV	ENTR1:NM_001039708:exon3:c.G481C:p.D161H,ENTR1:NM_006643:exon4:c.G631C:p.D211H,ENTR1:NM_001039707:exon5:c.G700C:p.D234H	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.012446890627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs932579216	2.054e-06	2.052e-06	1.362e-06	2.752e-06	.	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	4.971e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.046	0.50226	D	0.987	0.61912	D	0.853	0.60815	P	0.105540	0.19654	N	0.547984	0.998612	0.22036	N	.	.	.	2.14	0.39990	T	-3.26	0.78891	D	0.384	0.46086	-0.9752	0.36082	T	0.154	0.48378	T	10	0.15341121	0.28958	T	0.012447	0.31033	T	0.056	0.15993	0.326	0.30873	0.548611889291	0.54518	0.23439374797238732	0.23354	0.109377941776	0.12337	0.574790835381	0.49354	T	0.091235	0.45556	T	-0.164267	0.26105	T	-0.473735	0.25114	T	0.877457618713379	0.52736	D	0.852015	0.53695	D	0.10433186	0.24663	0.15849507	0.37010	0.10433186	0.24663	0.15849507	0.37009	-4.045	0.24624	T	.	.	0.173	0.48303	B	.;.;.;.	.;.;.;.	3.636138	0.51531	23.1	0.99369988421502775	0.61411	0.08263	0.14215	N	AEFGBI	0.087834	0.17809	N	0.0441985649452429	0.43876	2.672078	-0.0664186382870818	0.36788	2.145447	0.999982518813961	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	3.55	0.39770	1.680000	0.37224	3.321000	0.37545	0.599000	0.40250	0.266000	0.25007	0.998000	0.33993	0.547000	0.30103	0.3155:0.601:0.0:0.0835	6.631	0.22049	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1632.83	33	chr9	136407264	.	C	G	1632.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.24;DP=308;ExcessHet=0;FS=3.28;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.295;SOR=0.437	GT:AD:DP:GQ:PL	0/1:68,61:129:99:1643,0,1690	5	0	1	0
chr9	136802743	136802743	A	G	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon6:c.A623G:p.K208R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00475596979929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26192	T	0.063	0.45110	T	0.014	0.16867	B	0.006	0.12133	B	0.655004	0.10478	U	0.784881	1	0.08975	N	0	0.06538	N	2.73	0.11839	T	-0.7	0.19933	N	0.145	0.14622	-0.9854	0.33735	T	0.025	0.10777	T	10	0.06432903	0.08515	T	0.004756	0.11847	T	0.046	0.12618	0.193	0.10437	0.212008924253	0.20833	0.0683481228276021	0.06772	0.186762890968	0.20985	0.375207185745	0.21576	T	0.004008	0.03423	T	-0.34254	0.05214	T	-0.729811	0.04336	T	0.0338569563151856	0.02613	T	0.690331	0.29972	T	0.075246796	0.16938	0.071215786	0.15224	0.075246796	0.16938	0.071215786	0.15224	-4.019	0.24087	T	.	.	0.083	0.09094	B	.	.	1.493424	0.19208	14.15	0.96111042196835617	0.28745	0.10218	0.15785	N	AEFGBCI	0.081673	0.16529	N	-0.962038127462252	0.09423	0.44595	-0.891832573377879	0.12287	0.6311599	0.999995125799714	0.74766	0.676563	0.55306	0	0.694456	0.67091	0	0.673471	0.61138	0	0.620976	0.48614	0	.	.	4.83	3.92	0.44525	0.697000	0.25234	1.096000	0.24025	-0.145000	0.12313	0.274000	0.25084	0.472000	0.25058	0.656000	0.32857	0.1798:0.8202:0.0:0.0	12.227	0.53778	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1132.83	33	chr9	136802743	.	A	G	1132.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.703;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.53;ReadPosRankSum=0.405;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,30:58:99:0|1:136802743_A_G:1143,0,1085:136802743	5	0	1	0
chr9	137016008	137016008	G	A	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon22:c.C3271T:p.R1091W,ABCA2:NM_212533:exon22:c.C3361T:p.R1121W	.	426	1092	4	0	0	4	0.00182815	.	.	.	2414399	Intellectual_developmental_disorder_with_poor_growth_and_with_or_without_seizures_or_ataxia	MONDO:MONDO:0032930,MedGen:C5394135,OMIM:618808	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.668	0.724807968587	8.1e-05	.	9.275e-05	0	8.706e-05	0	0	0.0002	0	0	7.12e-05	11	154602	rs374438065	9.655e-05	9.645e-05	9.13e-05	0.0001	0.0003	8.318e-05	7.857e-05	9.469e-05	8.873e-05	0	8.947e-05	0	7.557e-05	0	0.0003	0.0001	9.938e-05	3.478e-05	7.459e-05	7.361e-05	0.0001	1.4e-05	0.0001	4.095e-05	3.218e-05	6.944e-05	5.116e-05	2.517e-05	0	7.16e-05	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.027	0.56640	D	0.999	0.77913	D	0.863	0.61398	P	0.000148	0.49130	U	0.134314	0.898953	0.36125	D	1.99	0.53851	M	-7.23	0.99857	D	-4.45	0.77717	D	0.646	0.66700	1.044	0.97986	D	0.990	0.99720	D	10	0.71702325	0.73413	D	0.724808	0.97779	D	0.668	0.87674	.	.	0.797305411769	0.79542	0.951782884879137	0.95162	2.21629160257	0.95813	0.464347183704	0.33906	T	0.955986	0.99398	D	0.0235676	0.54863	T	0.0605052	0.74278	D	0.329749791625902	0.26215	T	0.982102	0.93912	D	0.15554471	0.35149	0.09510133	0.22539	0.15554471	0.35148	0.09510133	0.22539	-9.755	0.72432	D	.	.	0.176	0.46085	B	.;.;.;.	.;.;.;.	2.279200	0.29141	18.03	0.99886622902998634	0.96126	0.27440	0.23278	N	AEFDGBI	0.487045	0.52596	N	-0.0906453320327648	0.37802	2.204592	-0.306994687993506	0.27873	1.549749	0.222550925182081	0.18372	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.2	1.15	0.19876	0.962000	0.28877	0.541000	0.19334	-0.244000	0.07312	0.112000	0.23030	0.007000	0.19602	0.757000	0.36037	0.0:0.0:0.5764:0.4236	12.858	0.57284	982	0.03397	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	930.83	33	chr9	137016008	.	G	A	930.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.85;DP=275;ExcessHet=0;FS=1.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-1.554;SOR=1.018	GT:AD:DP:GQ:PL	0/1:57,36:93:99:941,0,1309	5	0	1	0
chr9	137186288	137186288	C	T	exonic	ANAPC2	.	nonsynonymous SNV	ANAPC2:NM_013366:exon3:c.G809A:p.R270Q	.	418	1100	3	1	0	5	0.00226757	.	.	.	3979901	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00453105633492	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs146337536	7.808e-05	7.798e-05	5.997e-05	9.638e-05	0.0006	6.608e-05	6.15e-05	0.0004	0.0004	2.988e-05	4.474e-05	0	0	0	0.0006	4.946e-05	9.949e-05	0.0005	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.496	0.07846	T	0.362	0.16865	T	0.019	0.17989	B	0.002	0.06944	B	0.000068	0.52346	D	0.162027	0.680927	0.30279	N	-0.69	0.01958	N	3.97	0.03326	T	0.64	0.02368	N	0.265	0.30004	-0.9869	0.33371	T	0.005	0.01688	T	10	0.058430403	0.06869	T	0.004531	0.11157	T	0.079	0.23065	.	.	0.31316556289	0.30919	0.1767428270055384	0.17593	0.718418956035	0.62092	0.51226747036	0.40539	T	0.304795	0.67708	T	-0.447107	0.01174	T	-0.558049	0.16560	T	0.0469700216820017	0.04960	T	0.858914	0.54988	D	0.056080732	0.10984	0.038814608	0.03834	0.056080732	0.10984	0.038814608	0.03833	-4.486	0.30705	T	0.14703866300673302	0.17009	0.070	0.03588	B	.	.	3.213577	0.43755	21.8	0.99213936142850967	0.55685	0.66699	0.33169	D	AEFGBI	0.166074	0.29262	N	-0.362109425029085	0.26829	1.467296	-0.174528761137932	0.32477	1.848036	0.999998731590434	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.71	2.8	0.31881	3.067000	0.49706	2.127000	0.30755	0.599000	0.40250	1.000000	0.71638	0.535000	0.25384	0.984000	0.60418	0.0:0.7608:0.0:0.2392	5.070	0.13940	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	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1099.83	34	chr9	137186288	.	C	T	1099.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.319;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.968;SOR=0.693	GT:AD:DP:GQ:PL	0/1:60,48:108:99:1110,0,1501	5	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	464.42	105	chr10	825249	.	T	C	464.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.268;DP=485;ExcessHet=6.1542;FS=168.481;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.893;SOR=9.735	GT:AD:DP:GQ:PL	0/1:73,21:94:12:12,0,1394	1	0	5	0
chr10	3138965	3138965	G	C	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon22:c.C2562G:p.I854M,PITRM1:NM_001347725:exon23:c.C2658G:p.I886M,PITRM1:NM_001347726:exon23:c.C2043G:p.I681M,PITRM1:NM_001347730:exon23:c.C2634G:p.I878M,PITRM1:NM_001242307:exon25:c.C2859G:p.I953M,PITRM1:NM_001347727:exon25:c.C2241G:p.I747M,PITRM1:NM_001347728:exon25:c.C1551G:p.I517M,PITRM1:NM_001347729:exon25:c.C2832G:p.I944M,PITRM1:NM_014889:exon25:c.C2856G:p.I952M	.	436	1051	34	1	0	36	0.0168382	.	.	.	701321	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.283	.	0.0072	0.00698882	0.0076	0.0018	0.0042	0.0092	0.0005	0.0076	0.0167	0.0148	0.0076066	1176	154602	rs2279219	0.0085	0.0085	0.0082	0.0088	0.0239	0.0084	0.0083	0.0207	0.0194	0.0017	0.0039	0.0188	0.0107	0.0012	0.0239	0.0083	0.0096	0.0149	0.0055	0.0055	0.0059	0.0051	0.0133	0.0052	0.0051	0.0106	0.0097	0.0013	0	0.0037	0.0153	0.0106	0.0011	0.0340	0.0076	0.0066	0.0133	0.002	0.78490	D	0.006	0.76473	D	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.048486	0.982543	0.39905	D	3.15	0.88382	M	2.78	0.11298	T	-2.06	0.50502	N	0.733	0.73375	-0.9028	0.47694	T	0.030	0.13023	T	10	0.0075713396	0.00172	T	.	.	.	0.283	0.60100	.	.	0.292787519742	0.28880	0.7876777912847144	0.78719	0.339281541877	0.35884	0.36477342248	0.20078	T	0.03237	0.22457	T	-0.406594	0.02095	T	-0.344497	0.39833	T	0.0919633649975755	0.11448	T	0.928507	0.76748	D	0.5679132	0.70946	0.32878715	0.58764	0.5679132	0.70947	0.32878715	0.58764	-8.724	0.65903	D	.	.	0.099	0.43815	B	.;.;.;.;.	.;.;.;.;.	-0.572070	0.01650	0.116	0.99290081191233992	0.58219	0.46315	0.27733	N	AEFGBCI	0.232223	0.35533	N	-0.67583953480814	0.16711	0.8538296	-0.985766165152834	0.10104	0.5068272	0.99999997108151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	-10.1	0.00330	-1.340000	0.02756	-3.074000	0.03084	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2486:0.1044:0.4286:0.2184	3.335	0.06681	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, 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	.	.	.	.	.	.	.	.	0.25	3500.03	51	chr10	3138965	.	G	C	3500.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.91;DP=419;ExcessHet=1.383;FS=9.383;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.474;SOR=1.169	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1219,0,1464	3	0	3	0
chr10	13611615	13611615	G	A	exonic	PRPF18	.	nonsynonymous SNV	PRPF18:NM_003675:exon6:c.G511A:p.A171T	.	429	1059	31	3	0	37	0.0171694	0.0010	0.142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0078	0.00678914	0.0083	0.0020	0.0078	0	0.0091	0.0096	0.0110	0.0114	0.0084087	1300	154602	rs62640925	0.0094	0.0095	0.0091	0.0096	0.0128	0.0092	0.0092	0.0105	0.0097	0.0015	0.0107	0.0150	2.52e-05	0.0091	0.0128	0.0097	0.0091	0.0105	0.0078	0.0079	0.0080	0.0077	0.0133	0.0075	0.0073	0.0118	0.0112	0.0019	0	0.0133	0.0153	0.0002	0.0082	0.0238	0.0101	0.0133	0.0104	0.546	0.06669	T	0.517	0.10572	T	0.008	0.14655	B	0.005	0.11217	B	0.000145	0.49130	N	0.210179	0.999999	0.58761	D	1.53	0.38800	L	.	.	.	0.01	0.06868	N	0.138	0.13626	-1.0392	0.17556	T	0.100	0.37162	T	8	0.005205065	0.00113	T	.	.	.	0.108	0.30607	.	.	0.302459207581	0.29844	0.41723726718448145	0.41639	0.774615165967	0.64958	0.521854639053	0.41887	T	0.019352	0.15433	T	-0.529063	0.00389	T	-0.520415	0.20252	T	0.00629290134475982	0.00070	T	0.838616	0.53598	T	0.041489	0.06119	0.07544694	0.16611	0.041489	0.06119	0.07544694	0.16610	-4.813	0.34743	T	.	.	0.078	0.42022	B	.;.;.	.;.;.	2.109147	0.26843	17.26	0.8594313577818038	0.16211	0.90310	0.51384	D	AEFBI	0.475305	0.51920	N	-0.347424565521786	0.27366	1.500914	-0.272580887782374	0.29004	1.621657	0.999536883503773	0.40238	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.5	2.66	0.30672	5.159000	0.64769	4.033000	0.41356	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.101000	0.18331	0.2109:0.0:0.7891:0.0	10.463	0.43779	792	0.45996	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.015152	0.006793	0.008772	0.050000	0.017241	0.012195	0.011364	0.08333	895.83	39	chr10	13611615	.	G	A	895.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.55;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-2.645;SOR=0.653	GT:AD:DP:GQ:PL	0/1:47,40:87:99:906,0,1121	5	0	1	0
chr10	19146225	19146225	C	G	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon11:c.C1439G:p.S480W	.	558	962	2	0	0	2	0.00103842	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0078377	204	26028	rs150497176	0.0109	0.0081	0.0111	0.0106	0.0121	0.0107	0.0106	0.0119	0.0119	0.0014	0.0049	0	7.541e-05	0.0018	0.0024	0.0121	0.0090	0.0033	0.0059	0.0059	0.0065	0.0054	0.0100	0.0056	0.0055	0.0094	0.0091	0.0017	0.0713	0.0033	0	0	0.0008	0	0.0100	0.0090	0.0015	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.51226	.	.	.	.	.	.	.	0.008595616	0.00195	T	.	.	.	.	.	.	.	0.50055108712	0.49690	0.18437531268855128	0.18356	.	.	.	.	.	.	.	.	-0.448168	0.01158	T	-0.404863	0.32820	T	.	.	.	0.670533	0.27914	T	0.30839565	0.53647	0.41923356	0.65923	0.30839565	0.53647	0.41923356	0.65923	-7.163	0.55215	T	.	.	0.199	0.42244	B	.	.	3.649495	0.51790	23.1	0.46240814081258413	0.03689	0.92717	0.56374	D	AEFI	.	.	.	.	.	.	.	.	.	3.44791246914266E-4	0.06626	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.715379	0.43294	5.33	4.4	0.52402	2.858000	0.48055	3.649000	0.39371	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.1564:0.8436:0.0:0.0	13.498	0.60893	888	0.27761	MAM domain|MAM domain|MAM domain|MAM 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	.	.	.	.	.	.	.	.	0.08333	353.83	33	chr10	19146225	.	C	G	353.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.049;DP=222;ExcessHet=0;FS=1.171;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=0.243;SOR=0.99	GT:AD:DP:GQ:PL	0/1:32,18:50:99:364,0,766	5	0	1	0
chr10	27017749	27017749	C	T	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon30:c.G4256A:p.C1419Y,ANKRD26:NM_014915:exon30:c.G4259A:p.C1420Y	Thrombocytopenia 2, Autosomal dominant	156	1337	25	4	0	33	0.0121906	.	.	.	207737	not_specified|ANKRD26-related_disorder|not_provided|Thrombocytopenia_2	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.452	.	0.0014	0.00439297	0.0035	0.0004	0.0042	0	0.0012	0.0024	0.0089	0.0120	0.0032147	497	154602	rs146159734	0.0024	0.0024	0.0021	0.0027	0.0193	0.0023	0.0023	0.0164	0.0153	0.0007	0.0034	0.0024	2.527e-05	0.0015	0.0193	0.0017	0.0030	0.0104	0.0017	0.0017	0.0016	0.0018	0.0102	0.0015	0.0015	0.0079	0.0071	0.0004	0	0.0034	0.0026	0.0002	0.0008	0.0204	0.0016	0.0047	0.0102	0.095	0.35537	T	0.241	0.24334	T	.	.	.	.	.	.	0.004845	0.33331	U	0.169196	0.500123	0.31734	D	.	.	.	-1.15	0.77964	T	-7.14	0.94073	D	0.31	0.34981	-0.4094	0.71730	T	0.394	0.74706	T	10	0.01960659	0.00440	T	.	.	.	0.452	0.75211	.	.	0.523806315272	0.52025	0.0441974741003335	0.04363	0.0878064292668	0.09913	0.428612112999	0.29019	T	.	.	.	-0.2505	0.14037	T	-0.123207	0.61538	T	0.0218834906538314	0.00896	T	0.806819	0.45619	T	0.28968933	0.51963	0.37452072	0.62616	0.34960562	0.57037	0.51294774	0.71856	-7.384	0.56792	T	.	.	0.118	0.26825	B	.;.	.;.	2.132235	0.27144	17.36	0.67903168442057171	0.08495	0.11980	0.16984	N	AEFBI	0.074665	0.14971	N	-0.714204205558044	0.15621	0.7888936	-0.82370555127283	0.13921	0.7247595	6.57694041039541E-5	0.04366	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.83	0.708	0.17301	0.113000	0.15333	-0.851000	0.07178	0.578000	0.29377	0.052000	0.21487	0.000000	0.08366	0.405000	0.26894	0.3432:0.3953:0.0:0.2615	2.950	0.05499	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.018649	0.030612	0.010870	0.040936	0.000000	0.034483	0.009146	0.011364	0.08333	722.83	33	chr10	27017749	.	C	T	722.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.82;DP=220;ExcessHet=0;FS=1.388;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-0.128;SOR=1.209	GT:AD:DP:GQ:PL	0/1:26,26:52:99:733,0,744	5	0	1	0
chr10	35640315	35640315	-	CGCCCGGGCCGCCCG	exonic	FZD8	.	nonframeshift insertion	FZD8:NM_031866:exon1:c.1114_1115insCGGGCGGCCCGGGCG:p.G371_G372insAGGPG	.	450	1061	9	2	0	13	0.00608899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.064e-05	5.884e-05	3.025e-05	3.106e-05	0.0002	2.185e-05	1.922e-05	5.917e-05	3.803e-05	0	0	6.434e-05	0	0	0	2.883e-05	2.384e-05	0.0002	0	6.598e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	306.79	33	chr10	35640315	.	C	CCGCCCGGGCCGCCCG	306.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.08;DP=224;ExcessHet=0;FS=2.192;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.093;SOR=1.46	GT:AD:DP:GQ:PL	0/1:13,10:23:99:317,0,419	5	0	1	0
chr10	46549598	46549598	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385276:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385282:exon3:c.G1139A:p.R380Q,GPRIN2:NM_014696:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385277:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385278:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385279:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385280:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385281:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385283:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385287:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385289:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385300:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385291:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385293:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385294:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385295:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385296:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385301:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385297:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385298:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385299:exon6:c.G1211A:p.R404Q	.	396	1102	23	1	0	25	0.0112158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0142984692189	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150696937	0.0034	0.0068	0.0035	0.0034	0.0095	0.0033	0.0033	0.0075	0.0068	0.0008	0.0026	0.0079	0	0.0009	0.0095	0.0038	0.0038	0.0015	0.0026	0.0049	0.0029	0.0024	0.0038	0.0024	0.0023	0.0034	0.0032	0.0010	0	0.0030	0.0082	0.0004	0.0008	0.0105	0.0038	0.0029	0.0023	0.016	0.51853	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.84	0.24656	T	-3.9	0.72932	D	0.212	0.23632	.	.	.	.	.	.	.	0.03615442	0.01899	T	.	.	.	.	.	.	.	.	.	0.5480051513584038	0.54726	.	.	.	.	.	0.064308	0.32400	T	.	.	.	.	.	.	.	.	.	0.832417	0.50060	T	.	.	.	.	.	.	.	.	-5.983	0.46138	T	.	.	0.079	0.08609	B	.;.	.;.	3.526453	0.49461	22.8	.	.	.	.	.	.	0.226162	0.35015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.414000	0.44281	0.153000	0.15315	0.549000	0.26987	0.991000	0.37257	0.006000	0.19429	0.975000	0.56047	.	.	.	970	0.06235	G protein-regulated inducer of neurite outgrowth, C-terminal;G protein-regulated inducer of neurite outgrowth, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2180.06	176	chr10	46549598	.	C	T	2180.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.44;DP=1522;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.81;ReadPosRankSum=0.718;SOR=0.71	GT:AD:DP:GQ:PL	0/1:249,62:311:99:1109,0,6417	4	0	2	0
chr10	47474331	47474331	G	A	exonic	ANXA8	.	nonsynonymous SNV	ANXA8:NM_001271703:exon6:c.C434T:p.T145M,ANXA8:NM_001040084:exon8:c.C620T:p.T207M,ANXA8:NM_001271702:exon8:c.C734T:p.T245M	.	557	954	11	0	0	11	0.00573215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00947507258297	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416919198	0.0015	0.0018	0.0014	0.0016	0.0181	0.0014	0.0014	0.0147	0.0135	0.0010	0.0018	0.0038	7.506e-05	0.0005	0.0181	0.0014	0.0027	0.0011	0.0020	0.0023	0.0021	0.0019	0.0062	0.0018	0.0017	0.0052	0.0048	0.0005	0.0012	0.0062	0.0053	0	0.0002	0.0250	0.0021	0.0015	0.0021	.	.	.	0.035	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5	0.05014	T	.	.	.	0.208	0.39052	.	.	.	.	.	.	.	0.03975299	0.02489	T	.	.	.	.	.	.	.	.	.	0.4310750636228678	0.43024	.	.	.	.	.	0.136864	0.50197	T	.	.	.	.	.	.	.	.	.	0.972453	0.90263	D	.	.	.	.	.	.	.	.	-7.895	0.62647	D	.	.	0.177	0.38676	B	.;.;.;.	.;.;.;.	3.787850	0.54506	23.5	.	.	.	.	.	.	0.077809	0.15685	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572000	0.23387	2.642000	0.33760	0.477000	0.22036	0.455000	0.26605	0.998000	0.33993	0.581000	0.30918	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1384.92	.	chr10	47474331	.	G	A	1384.92	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.094;DP=361;ExcessHet=1.7609;FS=2.314;MLEAC=3;MLEAF=0.3;MQ=48.98;MQRankSum=-0.459;QD=4.79;ReadPosRankSum=-0.096;SOR=0.533	GT:AD:DP:GQ:PL	0/1:63,29:92:99:545,0,1593	2	0	3	1
chr10	47761593	47761595	CAG	-	exonic	LOC102724488;SYT15	.	nonframeshift deletion	LOC102724488:NM_001370183:exon2:c.58_60del:p.L21del,LOC102724488:NM_001370184:exon2:c.58_60del:p.L21del,SYT15:NM_031912:exon2:c.58_60del:p.L21del,SYT15:NM_181519:exon2:c.58_60del:p.L21del	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309361127	0.0005	0.0028	0.0005	0.0005	0.0008	0.0005	0.0004	0.0005	0.0005	0.0003	0.0006	0.0004	0.0005	0.0005	0.0008	0.0005	0.0003	0.0004	2.077e-05	5.947e-05	4.022e-05	0	0.0002	5.52e-06	2.53e-06	.	.	0	0	6.931e-05	0	0.0002	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	85.03	10	chr10	47761592	.	ACAG	A	85.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.707;DP=137;ExcessHet=0.4139;FS=1.911;MLEAC=2;MLEAF=0.167;MQ=36.05;MQRankSum=1.33;QD=2.02;ReadPosRankSum=-1.289;SOR=0.865	GT:AD:DP:GQ:PL	0/1:27,3:30:45:45,0,1125	4	0	2	0
chr10	48178141	48178141	G	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon20:c.C2726A:p.S909Y,FRMPD2:NM_001018071:exon22:c.C2801A:p.S934Y	.	568	948	5	1	0	7	0.0036784	.	.	.	2813132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.127	.	.	0.00199681	0.0046	0.0007	0	0	0	0.0021	0.0088	0.0138	0.000718	111	154602	rs200783524	0.0011	0.0011	0.0008	0.0015	0.0103	0.0011	0.0011	0.0097	0.0095	3.185e-05	0.0008	0.0022	0	3.757e-05	0.0068	0.0005	0.0014	0.0103	0.0007	0.0007	0.0006	0.0009	0.0093	0.0006	0.0006	0.0072	0.0064	9.624e-05	0	0.0005	0.0017	0	0.0002	0	0.0007	0.0009	0.0093	0.002	0.72154	D	0.011	0.64786	D	0.329	0.60381	B	0.113	0.62049	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	-0.13	0.65563	T	-2.83	0.59710	D	0.164	0.21056	-0.8446	0.52338	T	0.251	0.62027	T	9	0.009323031	0.00210	T	.	.	.	0.127	0.34888	.	.	0.664214759011	0.66139	0.14523352961555983	0.14446	3.07987304828	0.99351	0.35022342205	0.17954	T	0.039259	0.25126	T	-0.442361	0.01252	T	-0.402225	0.33126	T	0.0977232013084954	0.12105	T	0.745225	0.36553	T	0.19281517	0.40965	0.3215864	0.58105	0.19281517	0.40965	0.3215864	0.58104	-6.143	0.47809	T	.	.	0.104	0.18991	B	.;.;.	.;.;.	2.291806	0.29312	18.08	0.98535525230957965	0.42645	0.87770	0.47423	D	AEFI	0.155001	0.28013	N	-0.0644029191579769	0.38962	2.290102	-0.126572235034357	0.34322	1.973024	0.0160344420109532	0.12784	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.72	3.82	0.43153	2.761000	0.47270	2.142000	0.30851	0.652000	0.53365	0.996000	0.39380	0.989000	0.31174	0.069000	0.16583	0.0915:0.0:0.9085:0.0	10.217	0.42350	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005597	0.000000	0.001458	0.009259	0.000000	0.009434	0.000000	0.026549	0.08333	1422.83	35	chr10	48178141	.	G	T	1422.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.603;DP=276;ExcessHet=0;FS=2.741;MLEAC=1;MLEAF=0.083;MQ=47.77;MQRankSum=-4.073;QD=14.37;ReadPosRankSum=-0.657;SOR=1.054	GT:AD:DP:GQ:PL	0/1:41,58:99:99:1433,0,1023	5	0	1	0
chr10	48180805	48180805	T	C	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon19:c.A2713G:p.K905E,FRMPD2:NM_001018071:exon21:c.A2788G:p.K930E	.	.	.	.	.	.	.	.	0.0012	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0161201384846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.08559	T	0.228	0.25286	T	0.002	0.12183	B	0.003	0.15521	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	0.01	0.63077	T	-1.14	0.29323	N	0.126	0.11912	-1.0300	0.20454	T	0.110	0.39556	T	9	0.07231936	0.10778	T	0.01612	0.37217	T	0.033	0.08068	0.365	0.37199	0.234412748748	0.23057	0.1022840279713947	0.10158	2.20439237927	0.95697	0.378929287195	0.22105	T	0.01535	0.12895	T	-0.188081	0.22540	T	-0.507942	0.21528	T	0.0393599602170296	0.03575	T	0.605339	0.22755	T	0.077968806	0.17729	0.05513423	0.09615	0.077968806	0.17729	0.05513423	0.09614	-2.182	0.03954	T	.	.	0.089	0.12371	B	.;.;.	.;.;.	1.006500	0.13851	10.41	0.75917948614446429	0.11262	0.09844	0.15507	N	AEFI	0.047265	0.07940	N	-1.08764691597466	0.06870	0.3174883	-1.06534538080336	0.08389	0.4123263	3.23551154094007E-4	0.06540	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.53	0.428	0.15714	0.525000	0.22664	0.255000	0.16475	-0.173000	0.11020	0.517000	0.27088	0.085000	0.22446	0.017000	0.10941	0.0:0.3219:0.2361:0.442	3.018	0.05700	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	.	.	.	.	.	.	.	.	0.1667	309.06	22	chr10	48180805	.	T	C	309.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.409;DP=101;ExcessHet=0.4139;FS=3.166;MLEAC=2;MLEAF=0.167;MQ=26.69;MQRankSum=0;QD=9.37;ReadPosRankSum=1.32;SOR=1.473	GT:AD:DP:GQ:PL	0/1:5,5:10:99:129,0,128	4	0	2	0
chr10	48222396	48222396	C	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon10:c.G1300A:p.E434K,FRMPD2:NM_001018071:exon12:c.G1372A:p.E458K	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.118171961024	.	.	3.296e-05	0	0	0	0	5.997e-05	0	0	3.23e-05	5	154602	rs778076413	2.531e-05	2.531e-05	2.314e-05	2.75e-05	0.0002	1.868e-05	1.631e-05	2.116e-05	1.862e-05	0	2.236e-05	0	0	0	0.0002	2.968e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	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	0.004	0.65419	D	0.013	0.63109	D	0.998	0.90584	D	0.975	0.86255	D	.	.	.	.	0.999835	0.49637	D	2.9	0.83903	M	-1.45	0.80899	T	-3.48	0.67941	D	0.457	0.49420	0.432	0.89567	D	0.699	0.89638	D	9	0.78812003	0.78423	D	0.118172	0.79815	D	0.628	0.85666	0.667	0.80502	0.800665467327	0.79880	0.24014651499322753	0.23928	0.184650743145	0.20765	0.518602490425	0.41429	T	0.158519	0.76438	T	-0.036206	0.46511	T	-0.133418	0.60684	T	0.869253814220428	0.51919	D	0.916508	0.73422	D	0.68051803	0.76997	0.57251567	0.75241	0.68051803	0.76998	0.57251567	0.75242	-10.844	0.78795	D	.	.	0.220	0.45421	B	.;.;.	.;.;.	3.690753	0.52580	23.3	0.99929113575003592	0.99279	0.96035	0.67239	D	AEFBI	0.632121	0.61285	D	0.749275929121456	0.82858	7.86769	0.697935293545699	0.82223	7.713904	0.999999999857044	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	4.394000	0.59433	4.251000	0.42758	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	16.658	0.85091	976	0.04745	FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2224.06	36	chr10	48222396	.	C	T	2224.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.213;DP=366;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.575;SOR=0.711	GT:AD:DP:GQ:PL	0/1:70,40:110:99:897,0,1928	4	0	2	0
chr10	49736463	49736463	T	C	exonic	OGDHL	.	nonsynonymous SNV	OGDHL:NM_001143997:exon19:c.A2021G:p.Q674R,OGDHL:NM_001347822:exon19:c.A2021G:p.Q674R,OGDHL:NM_001347826:exon19:c.A1451G:p.Q484R,OGDHL:NM_001143996:exon20:c.A2477G:p.Q826R,OGDHL:NM_001347820:exon20:c.A2477G:p.Q826R,OGDHL:NM_001347823:exon20:c.A2468G:p.Q823R,OGDHL:NM_001347824:exon20:c.A2468G:p.Q823R,OGDHL:NM_001347825:exon20:c.A1841G:p.Q614R,OGDHL:NM_001347819:exon21:c.A2648G:p.Q883R,OGDHL:NM_001347821:exon21:c.A2021G:p.Q674R,OGDHL:NM_018245:exon21:c.A2648G:p.Q883R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00373269116483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.16358	T	0.33	0.40267	T	0.0	0.02946	B	0.001	0.04355	B	0.326887	0.14179	N	0.698644	0.998995	0.21728	N	0.685	0.16464	N	2.78	0.11298	T	-0.5	0.18459	N	0.106	0.15046	-1.0045	0.28607	T	0.019	0.07939	T	10	0.11417061	0.21471	T	0.003733	0.08651	T	0.026	0.05648	0.281	0.23642	0.208000267992	0.20380	0.2770201536059743	0.27615	0.185854131292	0.20895	0.290280103683	0.08963	T	0.053186	0.29372	T	-0.358848	0.04196	T	-0.753237	0.03361	T	0.0342284627258778	0.02677	T	0.610139	0.23115	T	0.031741295	0.03068	0.052892625	0.08804	0.031741295	0.03068	0.052892625	0.08803	-4.973	0.36546	T	0.13837735020709144	0.15304	0.067	0.05447	B	.;.;.	.;.;.	1.032334	0.14123	10.70	0.9697200034651513	0.31823	0.26528	0.23019	N	AEFBI	0.434378	0.49545	N	-0.689422521119008	0.16322	0.8305401	-0.631270712745617	0.18691	0.9996402	0.0128875739528943	0.12388	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.4	2.96	0.33383	1.057000	0.30102	-0.034000	0.12756	-0.162000	0.11565	0.017000	0.19353	0.000000	0.08366	0.142000	0.20019	0.0:0.1429:0.1321:0.7251	6.281	0.20215	900	0.24599	Multifunctional 2-oxoglutarate metabolism enzyme, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1786.06	34	chr10	49736463	.	T	C	1786.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.46;DP=293;ExcessHet=0.4139;FS=2.064;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.099;SOR=0.925	GT:AD:DP:GQ:PL	0/1:38,37:75:99:920,0,805	4	0	2	0
chr10	49922612	49922612	A	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303489:exon2:c.T271A:p.L91M,PARG:NM_001303487:exon4:c.T1189A:p.L397M,PARG:NM_001303486:exon5:c.T1267A:p.L423M,PARG:NM_001324381:exon5:c.T1267A:p.L423M,PARG:NM_003631:exon5:c.T1513A:p.L505M	.	593	925	4	0	0	4	0.0021575	.	.	.	2754408	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	.	.	0.000199681	0.0009	0	0.0017	0	0	0.0017	0	0	0.0001746	27	154602	rs201117929	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0006	0.0004	6.034e-05	0.0005	0	0	1.884e-05	0.0015	0.0004	0.0003	0.0002	0.0004	0.0004	0.0004	0.0004	0.0022	0.0003	0.0003	0.0016	0.0014	2.408e-05	0	0.0022	0	0	0	0	0.0004	0.0005	0.0002	.	.	.	0.242	0.24264	T	0.196	0.29532	B	0.059	0.26602	B	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.404	0.44474	-1.0188	0.24106	T	0.064	0.26527	T	7	0.025242984	0.00724	T	.	.	.	0.014	0.01968	.	.	0.159798565429	0.15598	0.26729204698247305	0.26642	.	.	0.588613033295	0.51297	T	0.088106	0.38088	T	-0.430162	0.01479	T	-0.436226	0.29231	T	0.0106662866516637	0.00150	T	0.79842	0.44325	T	0.24406368	0.47351	0.16158523	0.37578	0.24406368	0.47351	0.16158523	0.37577	-3.583	0.17611	T	.	.	0.075	0.05317	B	.;.	.;.	1.689516	0.21528	15.24	0.8667069684090114	0.16693	0.05087	0.10884	N	AEFI	0.056975	0.10577	N	-0.799763531117829	0.13316	0.6551415	-0.815225733678744	0.14127	0.7365287	9.40715613147506E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	2.52	-0.335	0.12034	0.373000	0.20215	0.408000	0.18078	0.684000	0.82519	0.876000	0.30908	0.416000	0.24783	0.997000	0.79791	0.6712:0.0:0.1301:0.1988	3.404	0.06909	880	0.29376	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001250	0.000000	0.002755	0.000000	0.000000	0.000000	0.004032	0.000000	0.08333	1350.83	33	chr10	49922612	.	A	T	1350.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.263;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=41.51;MQRankSum=-3.838;QD=15.35;ReadPosRankSum=-2.512;SOR=0.634	GT:AD:DP:GQ:PL	0/1:37,51:88:99:1361,0,912	5	0	1	0
chr10	50095704	50095704	G	T	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon15:c.G1346T:p.G449V,WASHC2A:NM_001291398:exon15:c.G1346T:p.G449V,WASHC2A:NM_001330102:exon15:c.G1346T:p.G449V	.	527	991	3	1	0	5	0.00251636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00613673869432	.	.	0.0004	0	0	0	0	0.0005	0	0.0004	.	.	.	rs1202720470	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0006	0.0004	2.994e-05	0.0005	0	0	0	0.0015	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0013	0.0011	2.424e-05	0	0.0018	0	0	0	0	0.0003	0.0005	0.0002	0.047	0.91255	D	0.079	0.42261	T	1.0	0.90584	D	0.995	0.83170	D	0.000342	0.45440	N	0.253801	1	0.81001	D	.	.	.	.	.	.	-6.17	0.91912	D	0.155	0.27316	-0.4190	0.71425	T	0.384	0.74017	T	9	0.1906895	0.34723	T	0.033201	0.54812	D	0.272	0.58758	0.354	0.35408	0.200294437569	0.19612	0.14867576493207726	0.14789	.	.	0.488423466682	0.37220	T	0.127893	0.45520	T	0.18333	0.72349	D	0.0255641	0.71991	D	0.989433348178864	0.79671	D	0.844715	0.57669	T	0.54769635	0.69827	0.4239002	0.66246	0.54769635	0.69828	0.4239002	0.66246	-10.103	0.74526	D	.	.	0.186	0.40213	B	.;.;.;.;.	.;.;.;.;.	2.422875	0.31160	18.66	0.99625670414876222	0.75716	0.78917	0.39011	D	AEFI	0.248857	0.36919	N	0.321862146874064	0.57272	3.893949	0.253877419763727	0.52869	3.459023	0.00320722510001098	0.09989	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.74	4.74	0.59717	2.351000	0.43727	5.050000	0.46989	0.461000	0.21595	0.984000	0.35821	1.000000	0.68203	0.317000	0.24900	0.0:0.0:1.0:0.0	13.264	0.59556	741	0.52966	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001456	0.000000	0.003125	0.000000	0.000000	0.000000	0.005000	0.000000	0.08333	2616.83	39	chr10	50095704	.	G	T	2616.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.385;DP=313;ExcessHet=0;FS=0.692;MLEAC=1;MLEAF=0.083;MQ=52.28;MQRankSum=-1.391;QD=21.99;ReadPosRankSum=-0.702;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,68:119:99:0|1:50095689_G_A:2627,0,1924:50095689	5	0	1	0
chr10	73498685	73498685	C	T	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon22:c.G4813A:p.D1605N,USP54:NM_001350995:exon22:c.G4708A:p.D1570N,USP54:NM_001378208:exon22:c.G4828A:p.D1610N,USP54:NM_001378209:exon22:c.G4828A:p.D1610N,USP54:NM_001378210:exon22:c.G4828A:p.D1610N,USP54:NM_152586:exon23:c.G4999A:p.D1667N	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0019	0.00758786	0.0063	0.0008	0.0020	0.0001	0.0003	0.0034	0.0036	0.0406	0.0057373	887	154602	rs117429793	0.0048	0.0048	0.0039	0.0056	0.0300	0.0047	0.0047	0.0290	0.0286	0.0004	0.0015	0.0091	5.054e-05	0.0002	0.0158	0.0034	0.0047	0.0300	0.0030	0.0030	0.0028	0.0033	0.0276	0.0028	0.0027	0.0238	0.0223	0.0007	0	0.0009	0.0075	0.0002	0.0003	0.0136	0.0036	0.0033	0.0276	0.217	0.19157	T	0.255	0.23365	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.997265	0.22728	N	1.59	0.40313	L	1.84	0.24656	T	-0.75	0.21003	N	0.081	0.15187	-1.0720	0.08979	T	0.032	0.13942	T	9	0.0031874776	0.00054	T	.	.	.	0.027	0.05988	.	.	0.244539031024	0.24083	0.12739062059800277	0.12665	0.161090804594	0.18180	0.343045890331	0.16894	T	0.001299	0.00775	T	-0.670526	0.00055	T	-0.712943	0.05145	T	0.00310305658237884	0.00033	T	0.735226	0.35154	T	0.02198605	0.00832	0.03208178	0.01889	0.02198605	0.00832	0.03208178	0.01888	-4.636	0.32621	T	.	.	0.092	0.21239	B	.;.	.;.	1.589521	0.20330	14.70	0.97309251252999618	0.33318	0.81022	0.40516	D	AEFDBI	0.156473	0.28183	N	-0.674840038345254	0.16740	0.8555635	-0.57157403984812	0.20236	1.089	0.992873459407796	0.33000	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.09	3.16	0.35406	1.751000	0.37967	4.075000	0.41695	0.577000	0.29297	0.878000	0.30948	1.000000	0.68203	0.007000	0.07825	0.0:0.7532:0.1602:0.0866	8.064	0.29812	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.026515	0.1667	2154.06	36	chr10	73498685	.	C	T	2154.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.024;DP=331;ExcessHet=0.4139;FS=2.588;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.546;SOR=0.509	GT:AD:DP:GQ:PL	0/1:37,56:93:99:1299,0,765	4	0	2	0
chr10	84144915	84144915	T	-	exonic	GHITM	.	frameshift deletion	GHITM:NM_014394:exon5:c.382delT:p.Y128Ifs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5481.03	33	chr10	84144914	.	CT	C	5481.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.45;DP=438;ExcessHet=0.4139;FS=3.133;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=1.71;SOR=0.684	GT:AD:DP:GQ:PL	0/1:76,94:170:99:3289,0,2515	4	0	2	0
chr10	86942613	86942613	-	CGGCCC	exonic	MMRN2	.	nonframeshift insertion	MMRN2:NM_024756:exon6:c.2170_2171insGGGCCG:p.A723_A724insGA	.	397	1118	6	1	0	8	0.00356506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	.	0.0025	0.0009	0.0016	0.0004	0.0003	0.0035	0.0058	0.0018	0.000461	12	26028	rs766938013	0.0027	0.0027	0.0027	0.0027	0.0048	0.0026	0.0026	0.0034	0.0029	0.0008	0.0016	0.0035	7.559e-05	0.0006	0.0048	0.0029	0.0032	0.0023	0.0024	0.0024	0.0026	0.0022	0.0035	0.0022	0.0021	0.0031	0.0030	0.0012	0	0.0026	0.0040	0	0.0005	0.0034	0.0035	0.0038	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	831.79	36	chr10	86942613	.	G	GCGGCCC	831.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.117;DP=248;ExcessHet=0;FS=1.222;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=2.06;SOR=0.458	GT:AD:DP:GQ:PL	0/1:27,22:49:99:842,0,1026	5	0	1	0
chr10	87862043	87862043	A	T	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.T445A:p.W149R	Cowden syndrome 4	404	1089	27	2	0	31	0.0140335	.	.	.	1328827	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.081	.	0.0033	0.00778754	0.0100	0.0057	0.0094	0.0218	0.0294	0.0058	0	0.0485	0.0019081	295	154602	rs144811392	0.0044	0.0043	0.0040	0.0048	0.0220	0.0043	0.0043	0.0200	0.0196	0.0059	0.0042	0.0224	0.0013	0.0015	0.0220	0.0029	0.0069	0.0209	0.0050	0.0050	0.0051	0.0050	0.0197	0.0047	0.0046	0.0165	0.0153	0.0055	0	0.0060	0.0236	0.0048	0.0013	0.0068	0.0032	0.0043	0.0197	0.0	0.91255	D	0.0	0.92824	D	0.053	0.22573	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-13.33	0.99923	D	0.518	0.54845	-1.0009	0.29660	T	0.028	0.12058	T	7	0.004883915	0.00104	T	.	.	.	0.081	0.23632	0.273	0.22369	0.187945064343	0.18414	0.01955883499582311	0.01909	.	.	0.516497671604	0.41134	T	0.073376	0.34684	T	-0.320565	0.06851	T	-0.21699	0.53027	T	0.0646169826733294	0.07873	T	.	.	.	0.4524634	0.64197	0.48240533	0.70030	0.4524634	0.64198	0.48240533	0.70030	-1.846	0.02650	T	.	.	0.624	0.69881	P	.	.	2.927599	0.38882	20.8	0.65714381610574835	0.07851	0.07896	0.13885	N	ALL	0.082170	0.16635	N	-1.24715766884081	0.04337	0.1955592	-1.21298957757575	0.05701	0.2723601	0.99999999999944	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.02	0.222	0.14563	0.290000	0.18731	0.087000	0.14465	-0.562000	0.04833	0.371000	0.25932	0.000000	0.08366	0.079000	0.17189	0.6162:0.0:0.3838:0.0	7.162	0.24847	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	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	0.027655	0.025641	0.036036	0.035398	0.000000	0.000000	0.024691	0.026786	0.1667	2403.06	34	chr10	87862043	.	A	T	2403.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.324;DP=334;ExcessHet=0.4139;FS=3.206;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.282;SOR=0.508	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1136,0,1442	4	0	2	0
chr10	87862096	87862096	T	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.A392G:p.N131S	Cowden syndrome 4	401	1092	27	2	0	31	0.0139955	.	.	.	1328865	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	.	0.0031	0.00778754	0.0176	0.0072	0.0089	0.0213	0.0312	0.0090	0.0192	0.0490	0.0022121	342	154602	rs147932146	0.0045	0.0044	0.0041	0.0049	0.0211	0.0044	0.0044	0.0198	0.0195	0.0060	0.0038	0.0221	0.0013	0.0015	0.0211	0.0030	0.0070	0.0207	0.0050	0.0050	0.0051	0.0050	0.0195	0.0047	0.0046	0.0163	0.0151	0.0055	0	0.0060	0.0237	0.0048	0.0013	0.0068	0.0032	0.0043	0.0195	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	2.7	0.00190	N	0.052	0.02366	-1.0067	0.27943	T	0.026	0.11309	T	7	0.0028946996	0.00046	T	.	.	.	0.028	0.06331	.	.	.	.	0.0017261303148033691	0.00159	.	.	0.443860292435	0.31104	T	9.34E-4	0.00486	T	-0.55553	0.00270	T	-0.555162	0.16834	T	0.0160280219121759	0.00383	T	.	.	.	0.038653046	0.05189	0.057588708	0.10494	0.038653046	0.05188	0.057588708	0.10493	-1.817	0.02560	T	.	.	0.030	0.00001	B	.	.	1.212471	0.16058	12.29	0.77735424106533868	0.12000	0.00230	0.01288	N	ALL	0.021629	0.00984	N	-0.803821028253282	0.13212	0.6493035	-0.677257652528533	0.17530	0.9325337	0.999999999999535	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.2	1.31	0.20837	0.171000	0.16497	-0.080000	0.12189	-0.171000	0.11205	0.988000	0.36536	0.544000	0.25431	0.986000	0.61781	0.0:0.5313:0.1739:0.2948	4.061	0.09315	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	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	0.019656	0.013514	0.012658	0.036036	0.000000	0.000000	0.025000	0.010000	0.1667	3029.06	34	chr10	87862096	.	T	C	3029.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.87;DP=318;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.089;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,40:90:99:0|1:87862096_T_C:1466,0,1898:87862096	4	0	2	0
chr10	87862106	87862106	G	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.C382G:p.R128G	Cowden syndrome 4	407	1086	27	2	0	31	0.0140717	.	.	.	1164372	KLLN-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.151	.	.	0.00539137	0.0159	0.0005	0.0029	0.0205	0.0312	0.0085	0.0167	0.0396	0.001934	299	154602	rs201652303	0.0042	0.0040	0.0037	0.0047	0.0206	0.0041	0.0041	0.0198	0.0195	0.0007	0.0025	0.0194	0.0013	0.0015	0.0194	0.0028	0.0059	0.0206	0.0032	0.0032	0.0032	0.0032	0.0191	0.0029	0.0029	0.0159	0.0147	0.0007	0	0.0020	0.0225	0.0048	0.0013	0.0068	0.0030	0.0043	0.0191	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.918	0.65394	D	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-7.0	0.93697	D	0.288	0.32591	-1.0597	0.11830	T	0.080	0.31675	T	7	0.006397873	0.00145	T	.	.	.	0.151	0.39764	.	.	0.364926071151	0.36103	0.0191589379260431	0.01869	.	.	0.452904105186	0.32341	T	0.056345	0.30261	T	-0.234763	0.16023	T	-0.0944025	0.63828	T	0.0864372817327152	0.10789	T	.	.	.	0.55346066	0.70148	0.6603481	0.80101	0.55346066	0.70149	0.6603481	0.80101	-3.337	0.14219	T	.	.	0.233	0.46596	B	.	.	2.612882	0.33937	19.49	0.98646421445873789	0.44123	0.23292	0.22029	N	ALL	0.076716	0.15439	N	-0.13223173202535	0.35992	2.074642	-0.204622698071941	0.31370	1.774679	0.999999999999794	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.31	2.44	0.28875	0.563000	0.23250	1.516000	0.27058	0.676000	0.76740	0.702000	0.28645	0.181000	0.23421	0.934000	0.47231	0.2089:0.0:0.7911:0.0	6.920	0.23565	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	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	0.016010	0.006579	0.000000	0.027273	0.000000	0.000000	0.032051	0.010638	0.1667	3069.06	34	chr10	87862106	.	G	C	3069.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.17;DP=316;ExcessHet=0.4139;FS=0.549;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.254;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,39:87:99:0|1:87862096_T_C:1431,0,1851:87862096	4	0	2	0
chr10	89214971	89214971	C	T	exonic	LIPA	.	nonsynonymous SNV	LIPA:NM_001288979:exon8:c.G709A:p.V237I,LIPA:NM_000235:exon10:c.G1057A:p.V353I,LIPA:NM_001127605:exon10:c.G1057A:p.V353I	Cholesteryl ester storage disease, Autosomal recessive;Wolman disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3382555	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.144	0.0134274391072	.	.	3.297e-05	0	0	0.0001	0	2.999e-05	0	6.058e-05	2.59e-05	4	154602	rs751167376	1.437e-05	1.437e-05	1.361e-05	1.513e-05	1.799e-05	9.23e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.27310	T	0.147	0.32783	T	0.069	0.23796	B	0.139	0.33484	B	0.269427	0.15157	N	0.660669	0.999997	0.22212	N	1.125	0.28843	L	-0.59	0.71543	T	-0.56	0.17003	N	0.059	0.07262	-0.8065	0.54760	T	0.243	0.61177	T	10	0.18677318	0.34158	T	0.013427	0.32827	T	0.144	0.38394	0.684	0.82175	0.517983797298	0.51440	0.5983936005672345	0.59770	0.123377502336	0.13895	0.248874813318	0.03650	T	0.10631	0.41753	T	-0.311131	0.07649	T	-0.58784	0.13854	T	0.0521272252982222	0.05868	T	0.70163	0.32527	T	0.06116711	0.12637	0.05671423	0.10183	0.06116711	0.12636	0.05671423	0.10182	-5.948	0.46355	T	0.15554561943095946	0.18651	0.092	0.20934	B	.;.;.	.;.;.	-1.614721	0.00233	0.004	0.89021913874375191	0.18446	0.02799	0.07519	N	AEFDBIJ	0.120287	0.23439	N	-1.27559160230459	0.03971	0.1783993	-1.3968522778851	0.03285	0.152947	0.999998182669692	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.08	-5.46	0.02404	-2.386000	0.01139	-13.298000	0.00467	-1.643000	0.00837	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.4841:0.0:0.5159	13.504	0.60927	867	0.32089	Alpha/beta hydrolase fold-1;.;Alpha/beta hydrolase fold-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	3991.06	33	chr10	89214971	.	C	T	3991.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=482;ExcessHet=0.4139;FS=0.821;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.75;SOR=0.743	GT:AD:DP:GQ:PL	0/1:83,85:168:99:1979,0,1927	4	0	2	0
chr10	90857666	90857666	C	T	exonic	HTR7	.	nonsynonymous SNV	HTR7:NM_000872:exon1:c.G6A:p.M2I,HTR7:NM_019859:exon1:c.G6A:p.M2I,HTR7:NM_019860:exon1:c.G6A:p.M2I	.	420	1099	3	0	0	3	0.00136302	.	.	.	3270708	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.882569842982	.	.	0.0002	0	0	0	0	0.0004	0	0.0001	9.7e-05	15	154602	rs201619956	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0003	0	0	0.0012	0.0002	0.0002	8.624e-05	8.541e-05	8.531e-05	7.712e-05	9.407e-05	0.0003	4.956e-05	3.962e-05	0.0001	8.276e-05	0	0	0.0003	0.0003	0	0	0	0.0001	0	0	0.0	0.91255	D	0.054	0.47097	T	0.261	0.31520	B	0.069	0.27757	B	0.108961	0.19505	N	0.517876	0.995225	0.23342	N	0.695	0.17993	N	-0.12	0.64630	T	-0.08	0.08340	N	0.407	0.48504	-0.9641	0.38389	T	0.161	0.49631	T	10	0.41333482	0.56374	T	0.88257	0.99106	D	0.288	0.60691	0.233	0.16155	0.837500281751	0.83595	0.5110983383236349	0.51031	0.463146450932	0.45825	0.864582419395	0.91785	D	0.116989	0.43674	T	-0.123824	0.32499	T	-0.136206	0.60447	T	0.123456317039614	0.14764	T	0.721828	0.33531	T	0.82483536	0.85547	0.69912505	0.82276	0.82483536	0.85549	0.69912505	0.82277	-4.244	0.27398	T	.	.	0.512	0.65127	A	.;.;.	.;.;.	3.069701	0.41256	21.3	0.98859657376146359	0.47442	0.64111	0.32302	D	AEFDGBHCI	0.228910	0.35251	N	-0.255761903557223	0.30874	1.725686	-0.190680589889357	0.31878	1.808239	0.999999994809864	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.82	2.91	0.32903	0.752000	0.26027	5.698000	0.49367	0.495000	0.22486	0.002000	0.15269	1.000000	0.68203	0.892000	0.42986	0.0:0.6724:0.2259:0.1018	7.418	0.26229	915	0.20917	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002047	0.000000	0.000000	0.002976	0.000000	0.009091	0.006329	0.000000	0.1667	539.07	24	chr10	90857666	.	C	T	539.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.04;DP=117;ExcessHet=0.4139;FS=1.177;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.582;SOR=0.932	GT:AD:DP:GQ:PL	0/1:13,5:18:99:128,0,377	4	0	2	0
chr10	91982215	91982215	A	G	exonic	BTAF1	.	nonsynonymous SNV	BTAF1:NM_003972:exon17:c.A2038G:p.M680V	.	427	1088	7	0	0	7	0.0032066	.	.	.	2359577	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.483	0.0369596916006	0.0004	.	0.0004	0	0.0008	0	0	0.0005	0.0011	0.0004	0.0003363	52	154602	rs149461421	0.0003	0.0003	0.0003	0.0003	0.0154	0.0003	0.0003	0.0128	0.0119	2.988e-05	0.0007	3.827e-05	0	0	0.0154	0.0002	0.0005	0.0002	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	2.406e-05	0	0.0008	0	0	0	0.0340	0.0005	0.0024	0	0.46	0.08736	T	0.483	0.11795	T	0.027	0.19556	B	0.042	0.24114	B	0.000000	0.84330	D	0.000000	0.999668	0.48141	D	1.4	0.35362	L	-2.5	0.89219	D	-1.03	0.27052	N	0.518	0.54845	-0.2359	0.76733	T	0.549	0.83484	D	10	0.11179483	0.20947	T	0.03696	0.57318	D	0.483	0.77271	.	.	0.901563006291	0.90058	0.5201709987908205	0.51940	0.494330584606	0.47994	0.633355021477	0.57621	T	0.158061	0.50092	T	-0.0361314	0.46522	T	0.0790731	0.75516	D	0.0315290495366347	0.02231	T	0.879712	0.59601	D	0.12123095	0.28512	0.12723781	0.30631	0.12123095	0.28512	0.12723781	0.30631	-7.335	0.56444	T	.	.	0.110	0.21011	B	.;.	.;.	2.979749	0.39743	21.0	0.90498326808902518	0.19755	0.97730	0.76719	D	AEFGBI	0.599623	0.59257	D	-0.0253998463583208	0.40707	2.422147	0.152615693568399	0.47280	2.960665	0.989998491727388	0.32002	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	5.727000	0.68171	9.412000	0.80708	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9247:0.0:0.0753:0.0	10.113	0.41747	922	0.19044	Domain of unknown function DUF3535;Domain of unknown function DUF3535	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.013587	0.026316	0.000000	0.025862	0.006098	0.000000	0.1667	1671.06	33	chr10	91982215	.	A	G	1671.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.612;DP=265;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.8;SOR=0.702	GT:AD:DP:GQ:PL	0/1:21,25:46:99:646,0,554	4	0	2	0
chr10	94762760	94762760	A	C	exonic	CYP2C19	.	nonsynonymous SNV	CYP2C19:NM_000769:exon1:c.A55C:p.I19L	Clopidogrel, impaired responsiveness to, Autosomal recessive;Mephenytoin poor metabolizer, Autosomal recessive;Omeprazole poor metabolizer, Autosomal recessive;Proguanil poor metabolizer, Autosomal recessive	4	1514	4	0	0	4	0.00131926	.	.	.	622281	not_provided|CYP2C19:_normal_function	MedGen:C3661900|.	practice_guideline	drug_response	.	.	.	.	.	.	.	.	0.091	.	0.0068	0.00459265	0.0021	0.0203	0.0009	0	0	0.0005	0	0.0002	0.0019793	306	154602	rs17882687	0.0010	0.0010	0.0011	0.0010	0.0221	0.0010	0.0010	0.0208	0.0203	0.0221	0.0010	0.0044	2.519e-05	3.746e-05	0.0033	0.0004	0.0023	0.0001	0.0058	0.0058	0.0059	0.0057	0.0192	0.0055	0.0054	0.0181	0.0176	0.0192	0	0.0022	0.0040	0	0	0.0034	0.0004	0.0038	0.0004	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.029327	0.01701	U	9.222560	1	0.08975	N	.	.	.	-0.15	0.65192	T	1.39	0.00846	N	0.078	0.05287	-0.9402	0.42584	T	0.026	0.11043	T	10	0.009020865	0.00204	T	.	.	.	0.091	0.26358	.	.	0.187945064343	0.18414	0.09380556009923187	0.09312	0.00541702681042	0.00476	0.386833816767	0.23222	T	0.002348	0.01739	T	-0.6578	0.00065	T	-0.702724	0.05678	T	0.00278046888062939	0.00029	T	0.00919908	0.00046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00681	B	.;.	.;.	-0.477159	0.01941	0.165	0.45439968306307754	0.03566	0.00108	0.00689	N	AEFI	0.049452	0.08544	N	-1.77907849151297	0.00598	0.02578162	-1.71368675146157	0.01078	0.04840313	9.7652552033161E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.14	-4.03	0.03752	-0.464000	0.06765	-7.829000	0.01078	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.4314:0.2286:0.1408:0.1991	0.913	0.01217	570	0.70478	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005035	0.000000	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	911.83	36	chr10	94762760	.	A	C	911.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.397;DP=258;ExcessHet=0;FS=2.933;MLEAC=1;MLEAF=0.083;MQ=59.74;MQRankSum=-2.124;QD=10.86;ReadPosRankSum=0.009;SOR=0.405	GT:AD:DP:GQ:PL	0/1:44,40:84:99:922,0,1054	5	0	1	0
chr10	95207268	95207268	G	A	exonic	ACSM6	.	nonsynonymous SNV	ACSM6:NM_207321:exon4:c.G464A:p.R155H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00190166151312	0.0006	0.000599042	0.0005	0.0016	8.654e-05	0	0	0.0004	0.0011	0.0010	0.0004657	72	154602	rs151317777	0.0003	0.0003	0.0003	0.0003	0.0031	0.0003	0.0003	0.0026	0.0024	0.0031	8.944e-05	0.0043	0	1.872e-05	0.0023	5.216e-05	0.0007	0.0011	0.0008	0.0008	0.0008	0.0008	0.0022	0.0007	0.0007	0.0019	0.0017	0.0022	0	0.0002	0.0040	0	0	0.0034	0.0001	0.0019	0.0002	0.055	0.38407	T	0.009	0.66756	D	0.498	0.37115	P	0.121	0.32300	B	.	.	.	.	1	0.08975	N	0.735	0.18861	N	0.96	0.42888	T	-1.34	0.33401	N	0.089	0.06720	-1.0774	0.07861	T	0.054	0.22883	T	9	0.0043457747	0.00088	T	0.001902	0.03351	T	0.031	0.07369	.	.	0.0401082797425	0.02173	0.09309131162575793	0.09241	0.0257875995059	0.02633	.	.	.	0.018464	0.14879	T	-0.693862	0.00040	T	-0.774077	0.02637	T	0.00499786679435847	0.00054	T	0.449255	0.12651	T	0.06342717	0.13353	0.05942555	0.11150	0.06342717	0.13353	0.05942555	0.11149	-3.959	0.23188	T	.	.	0.074	0.05060	B	.;.	.;.	0.125490	0.05223	1.729	0.90724508205206766	0.19974	0.00054	0.00410	N	AEFI	0.019426	0.00673	N	-1.41361941715146	0.02518	0.1113203	-1.58148687116154	0.01768	0.08046752	0.939722072507708	0.27400	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.2	-2.4	0.06204	-0.754000	0.04892	.	.	-1.216000	0.01345	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5866:0.0:0.4134:0.0	6.739	0.22615	792	0.45996	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	0.003525	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	645.83	34	chr10	95207268	.	G	A	645.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=251;ExcessHet=0;FS=0.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.485;SOR=0.818	GT:AD:DP:GQ:PL	0/1:48,28:76:99:656,0,1107	5	0	1	0
chr10	95225300	95225300	A	C	exonic	ACSM6	.	nonsynonymous SNV	ACSM6:NM_207321:exon10:c.A1211C:p.E404A	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	0.0028	0.00259585	0.0016	0.0107	0	0	0	0.0012	0	0	0.0004269	66	154602	rs192368492	0.0006	0.0006	0.0006	0.0006	0.0155	0.0006	0.0005	0.0144	0.0139	0.0155	0.0011	0.0043	0	2.028e-05	0.0035	5.286e-05	0.0017	0.0001	0.0036	0.0036	0.0037	0.0036	0.0121	0.0034	0.0033	0.0112	0.0108	0.0121	0	0.0009	0.0040	0	0	0.0034	0.0001	0.0047	0.0002	0.021	0.49117	D	0.157	0.31730	T	0.943	0.53072	P	0.823	0.59197	P	.	.	.	.	1	0.81001	D	1.555	0.39373	L	2.74	0.11730	T	-4.22	0.75854	D	0.176	0.18920	-1.0469	0.15274	T	0.021	0.08732	T	9	0.007935733	0.00180	T	.	.	.	0.138	0.37187	.	.	0.151104730317	0.14643	0.5705863290589236	0.56986	0.0456167028869	0.04953	.	.	.	0.048698	0.28093	T	-0.548796	0.00297	T	-0.549408	0.17383	T	0.0609642582883751	0.07319	T	0.462854	0.13445	T	0.35552523	0.57494	0.33186227	0.59040	0.35552523	0.57494	0.33186227	0.59040	-7.02	0.54179	T	.	.	0.144	0.31683	B	.;.	.;.	3.340138	0.46023	22.2	0.99444411879572614	0.64921	0.46970	0.27878	N	AEFDBHCI	0.140451	0.26236	N	0.0609814265840518	0.44648	2.735113	-0.0339378956184087	0.38193	2.246696	0.999908853901656	0.45458	0.487112	0.14033	0	0.547309	0.14657	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	2.141000	0.41792	.	.	0.567000	0.28720	0.950000	0.33075	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	5.005	0.13628	789	0.46346	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	0.002488	0.000000	0.008772	0.004464	0.000000	0.000000	0.000000	0.000000	0.08333	1511.83	33	chr10	95225300	.	A	C	1511.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.718;SOR=0.665	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1522,0,1443	5	0	1	0
chr10	95684564	95684564	C	T	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_015631:exon9:c.G1030A:p.G344R	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	8	1407	104	3	0	110	0.0376197	.	.	.	207805	not_specified|Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_provided	MedGen:CN169374|MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0049	0.00359425	0.0072	0.0012	0.0033	0.0002	0.0070	0.0074	0.0066	0.0167	0.0067464	1043	154602	rs141088838	0.0065	0.0065	0.0062	0.0068	0.0152	0.0064	0.0064	0.0146	0.0143	0.0022	0.0037	0.0099	5.04e-05	0.0096	0.0151	0.0060	0.0074	0.0152	0.0045	0.0045	0.0048	0.0043	0.0133	0.0043	0.0041	0.0107	0.0097	0.0016	0.0088	0.0029	0.0069	0.0006	0.0057	0.0204	0.0059	0.0057	0.0133	0.484	0.08140	T	0.618	0.07741	T	0.006	0.16265	B	0.011	0.15521	B	0.248852	0.03633	N	1.421560	1	0.08975	N	0.675	0.16386	N	-1.51	0.81399	D	-1.25	0.31576	N	0.278	0.32370	-1.0118	0.26353	T	0.056	0.23677	T	10	0.009601146	0.00216	T	.	.	.	0.375	0.69358	0.476	0.55342	0.790772292906	0.78882	0.5454035550696645	0.54466	0.13614919438	0.15352	0.240530341864	0.02838	T	0.163459	0.50852	T	-0.328064	0.06259	T	-0.231693	0.51608	T	0.00183713152993083	0.00019	T	0.687031	0.29593	T	0.049764294	0.08885	0.06339117	0.12551	0.050919995	0.09274	0.058357354	0.10769	-3.4	0.18759	T	0.06951102923013433	0.02612	0.079	0.12750	B	.;.;.;.	.;.;.;.	0.943955	0.13196	9.698	0.79239687288419069	0.12652	0.02608	0.07182	N	AEFBI	0.040571	0.06054	N	-0.568814744440956	0.19897	1.04495	-0.618461886141582	0.19019	1.018611	6.80979325413761E-5	0.04366	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	-0.788	0.10387	-0.057000	0.11726	.	.	-0.182000	0.10109	0.059000	0.21734	0.003000	0.18671	0.955000	0.50612	0.0:0.4378:0.2572:0.3049	5.321	0.15186	712	0.56465	Domain of unknown function DUF1619;Domain of unknown function DUF1619;Domain of unknown function DUF1619;.	.	.	.	.	.	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	0.018649	0.020408	0.016304	0.017544	0.000000	0.000000	0.021341	0.034091	0.1667	564.06	34	chr10	95684564	.	C	T	564.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.6;DP=216;ExcessHet=0.4139;FS=1.963;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=1.33;SOR=0.941	GT:AD:DP:GQ:PL	0/1:18,14:32:99:314,0,512	4	0	2	0
chr10	95693676	95693676	G	A	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_001143973:exon1:c.C224T:p.A75V,TCTN3:NM_015631:exon1:c.C224T:p.A75V	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	9	1406	104	3	0	110	0.0376454	.	.	.	207806	Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_specified|not_provided	MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.00359425	0.0104	0.0005	0.0025	0	0.0126	0.0070	0.0142	0.0174	0.0023544	364	154602	rs41291570	0.0065	0.0062	0.0062	0.0067	0.0151	0.0063	0.0063	0.0144	0.0141	0.0021	0.0038	0.0100	2.798e-05	0.0097	0.0146	0.0059	0.0073	0.0151	0.0045	0.0045	0.0048	0.0043	0.0133	0.0042	0.0041	0.0107	0.0097	0.0015	0.0088	0.0029	0.0069	0.0008	0.0056	0.0204	0.0059	0.0057	0.0133	0.135	0.26192	T	0.284	0.26631	T	0.002	0.12183	B	0.004	0.17743	B	0.695638	0.10137	N	0.851711	1	0.08975	N	1.2	0.30300	L	-1.72	0.83241	D	-1.18	0.30140	N	0.02	0.00445	-1.0142	0.25593	T	0.043	0.18576	T	10	0.00509724	0.00110	T	.	.	.	0.089	0.25827	.	.	0.853917324909	0.85251	0.27649445813637197	0.27562	0.112868008101	0.12739	0.290317267179	0.08968	T	0.003843	0.03252	T	-0.429777	0.01487	T	-0.377798	0.35981	T	0.00188038530215611	0.00019	T	0.70393	0.31793	T	0.027774865	0.02017	0.0480095	0.07041	0.028834157	0.02283	0.03944964	0.04039	-4.12	0.25877	T	0.20698699571383888	0.27655	0.069	0.09045	B	.;.;.;.;.	.;.;.;.;.	1.137991	0.15248	11.71	0.98272581091808886	0.39777	0.00594	0.02659	N	AEFDGBHCI	0.051049	0.08981	N	-0.671870877272385	0.16825	0.8606815	-0.823356092228878	0.13929	0.725252	0.999999999731661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	-0.71	0.10668	0.271000	0.18390	.	.	0.662000	0.56354	0.001000	0.13787	0.001000	0.17328	0.076000	0.17014	0.3648:0.162:0.4732:0.0	4.443	0.11007	714	0.56256	.;.;.;.;.	.	.	.	.	.	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	0.022837	0.015957	0.007937	0.026549	0.000000	0.000000	0.027473	0.036585	0.1667	2543.06	35	chr10	95693676	.	G	A	2543.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.057;DP=342;ExcessHet=0.4139;FS=6.46;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.469;SOR=1.142	GT:AD:DP:GQ:PL	0/1:46,60:106:99:1643,0,1286	4	0	2	0
chr10	96397278	96397278	G	A	exonic	TLL2	.	nonsynonymous SNV	TLL2:NM_012465:exon11:c.C1292T:p.P431L	.	.	.	.	.	.	.	.	.	.	.	2354812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.558	0.0457160593892	0.0007	.	0.0006	0	0	0	0.0005	0.0011	0	6.314e-05	0.0005498	85	154602	rs142713663	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	2.991e-05	2.239e-05	0.0001	0	0.0008	0	0.0004	0.0002	2.321e-05	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0006	0.0006	0	0	6.541e-05	0	0	0.0008	0	0.0008	0	0	0.042	0.41637	D	0.057	0.46406	T	1.0	0.90584	D	1.0	0.97372	D	0.000368	0.45194	D	0.000000	1	0.81001	D	2.62	0.76659	M	1.08	0.39401	T	-6.83	0.93020	D	0.951	0.95956	-0.2857	0.75385	T	0.348	0.71241	T	10	0.8410119	0.83257	D	0.045716	0.62114	D	0.558	0.81831	.	.	0.558227216974	0.55483	0.6927088266519533	0.69210	0.667790068816	0.59266	0.490808844566	0.37550	T	0.199845	0.55724	T	-0.0144211	0.49645	T	0.133704	0.79133	D	0.289600729942322	0.24573	T	0.989201	0.96434	D	0.30330613	0.53200	0.23045224	0.48148	0.30330613	0.53200	0.23045224	0.48147	-13.404	0.90959	D	.	.	0.295	0.52606	B	.	.	4.928050	0.81218	27.5	0.99861965297609512	0.94002	0.99073	0.90830	D	AEFDBI	0.929869	0.91629	D	0.766069982098168	0.83945	8.15279	0.628315493904429	0.77004	6.596748	0.999999999999974	0.74766	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.11	5.11	0.69188	9.860000	0.98420	11.826000	0.97381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	17.708	0.88220	534	0.73357	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2802.06	33	chr10	96397278	.	G	A	2802.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.96;DP=378;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.58;SOR=0.725	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1502,0,1237	4	0	2	0
chr10	101006993	101006993	G	A	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.G1175A:p.R392H,LZTS2:NM_001318099:exon5:c.G1835A:p.R612H,LZTS2:NM_001318100:exon5:c.G1835A:p.R612H,LZTS2:NM_032429:exon5:c.G1835A:p.R612H	.	408	1110	4	0	0	4	0.00179856	.	.	.	2754738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0144789807169	0.0004	.	0.0011	0.0004	0	0	0	0.0019	0	0.0008	0.0002846	44	154602	rs145889711	0.0003	0.0003	0.0003	0.0003	0.0082	0.0003	0.0003	0.0063	0.0056	0.0002	0.0003	0.0002	0	0.0001	0.0082	0.0003	0.0007	0.0006	0.0003	0.0003	0.0002	0.0005	0.0009	0.0003	0.0002	0.0006	0.0004	7.217e-05	0	0.0009	0	0	0.0003	0.0068	0.0004	0.0005	0.0004	0.004	0.65419	D	0.259	0.23097	T	0.432	0.35621	B	0.106	0.31143	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.725	0.44537	L	0.66	0.52416	T	-2.19	0.49352	N	0.168	0.17828	-0.9505	0.40885	T	0.119	0.41799	T	10	0.07008067	0.10146	T	0.014479	0.34624	T	0.135	0.36572	.	.	0.484162603407	0.48046	0.4210526837639201	0.42021	0.33147152316	0.35224	0.503728508949	0.39347	T	0.104061	0.41328	T	-0.262547	0.12604	T	-0.252996	0.49522	T	0.0521029643714428	0.05865	T	0.854215	0.54045	D	0.42630795	0.62509	0.22805165	0.47835	0.42630795	0.62510	0.22805165	0.47834	-7.648	0.58645	D	.	.	0.097	0.17785	B	.;.	.;.	4.143125	0.62090	24.4	0.99924255422758768	0.98980	0.91315	0.53286	D	AEFDBCI	0.499663	0.53325	N	0.109992316499031	0.46927	2.925797	0.236487234498482	0.51885	3.367239	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	2.508000	0.45111	7.307000	0.58111	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.667	0.88111	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006633	0.000000	0.006849	0.011696	0.000000	0.008772	0.006369	0.003788	0.1667	2077.06	34	chr10	101006993	.	G	A	2077.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.89;DP=280;ExcessHet=0.4139;FS=4.289;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.078;SOR=0.418	GT:AD:DP:GQ:PL	0/1:24,43:67:99:1236,0,508	4	0	2	0
chr10	117548154	117548154	G	A	exonic	EMX2	.	nonsynonymous SNV	EMX2:NM_001165924:exon2:c.G496A:p.D166N	Schizencephaly	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.012970262883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.53426	D	.	.	.	.	.	.	.	.	.	.	0.535902	0.81001	D	.	.	.	.	.	.	.	.	.	0.105	0.08925	-0.8994	0.48054	T	0.144	0.46623	T	6	0.16659477	0.31104	T	0.01297	0.31999	T	.	.	.	.	0.774191030368	0.77212	.	.	.	.	.	.	.	.	.	.	-0.166278	0.25801	T	-0.476623	0.24807	T	0.301076658192931	0.25049	T	0.636736	0.25039	T	.	.	.	.	.	.	.	.	-3.267	0.13315	T	.	.	0.072	0.04080	B	.;.	.;.	1.415902	0.18319	13.67	0.99842102540392286	0.92229	0.92815	0.56613	D	AEFDBCI	0.121918	0.23681	N	-0.0171804518557059	0.41078	2.450713	0.154771919535207	0.47396	2.970398	0.999999990446405	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.24	5.24	0.72863	1.976000	0.40202	8.607000	0.77753	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.187	0.93634	752	0.51611	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1427.06	36	chr10	117548154	.	G	A	1427.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.502;DP=268;ExcessHet=0.4139;FS=0.662;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.777;SOR=0.703	GT:AD:DP:GQ:PL	0/1:29,31:60:99:746,0,715	4	0	2	0
chr10	120513963	120513963	G	A	exonic	PLPP4	.	nonsynonymous SNV	PLPP4:NM_001030059:exon3:c.G218A:p.R73Q,PLPP4:NM_001318166:exon3:c.G218A:p.R73Q,PLPP4:NM_001318167:exon3:c.G218A:p.R73Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.00997361547022	.	.	4.968e-05	0	8.639e-05	0	0.0002	0	0	0.0002	4.53e-05	7	154602	rs748975790	8.141e-05	8.14e-05	7.487e-05	8.802e-05	7.734e-05	6.935e-05	6.487e-05	6.41e-05	5.91e-05	0	4.474e-05	0	2.519e-05	0.0003	0	7.734e-05	9.934e-05	6.961e-05	3.946e-05	3.941e-05	3.856e-05	4.04e-05	5.881e-05	1.717e-05	1.13e-05	1.972e-05	1.125e-05	2.416e-05	0	0	0	0	9.455e-05	0	5.881e-05	0	0	0.402	0.11156	T	0.296	0.27145	T	0.015	0.17086	B	0.004	0.10090	B	0.028101	0.25656	N	0.452394	0.999987	0.81001	D	.	.	.	-0.88	0.74689	T	-1.2	0.30555	N	0.342	0.38335	-0.8122	0.54417	T	0.230	0.59620	T	10	0.15988871	0.30030	T	0.009974	0.25946	T	0.215	0.50805	.	.	0.72062673939	0.71816	0.6800527502229324	0.67944	0.415885500396	0.42230	0.617542862892	0.55382	T	0.055847	0.30120	T	-0.244631	0.14764	T	-0.352503	0.38918	T	0.0745144516183429	0.09270	T	0.915108	0.69728	D	0.11141179	0.26328	0.09891263	0.23598	0.11141179	0.26327	0.09891263	0.23597	-6.945	0.53632	T	.	.	0.083	0.11654	B	.;.;.	.;.;.	3.724029	0.53232	23.3	0.99553253630953831	0.71273	0.67171	0.33336	D	AEFGCIJ	0.477765	0.52061	N	-0.00579540946318031	0.41592	2.490581	0.218991808750893	0.50900	3.277488	0.994284150774611	0.33568	0.706298	0.61202	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.74	5.74	0.90070	4.949000	0.63298	9.830000	0.81856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8581:0.1419	15.064	0.71648	771	0.49057	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2173.06	35	chr10	120513963	.	G	A	2173.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.17;DP=383;ExcessHet=0.4139;FS=1.592;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.428;SOR=0.815	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1181,0,1521	4	0	2	0
chr10	122633295	122633295	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon36:c.G4231A:p.E1411K,DMBT1:NM_017579:exon48:c.G6085A:p.E2029K,DMBT1:NM_001320644:exon49:c.G6112A:p.E2038K,DMBT1:NM_007329:exon49:c.G6115A:p.E2039K,DMBT1:NM_001377530:exon52:c.G6502A:p.E2168K	.	.	.	.	.	.	.	.	.	.	.	3207553	DMBT1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.187	0.0137601425903	0.0024	0.00239617	0.0007	0.0089	0.0002	0	0	0	0	0	0.0007244	112	154602	rs112645522	0.0003	0.0003	0.0003	0.0002	0.0090	0.0003	0.0002	0.0081	0.0078	0.0090	0.0003	0	0	0	0.0007	2.698e-06	0.0012	5.797e-05	0.0025	0.0025	0.0026	0.0023	0.0087	0.0023	0.0022	0.0079	0.0076	0.0087	0	0.0006	0	0	0	0	0	0.0028	0	0.117	0.32769	T	0.039	0.51112	D	0.527	0.41330	P	0.181	0.41929	B	0.391867	0.13244	U	0.604873	1	0.08975	N	0.71	0.18616	N	2.25	0.17761	T	-1.75	0.50666	N	0.53	0.56403	-1.0781	0.07721	T	0.048	0.20434	T	10	0.0064243674	0.00146	T	0.01376	0.33405	T	0.187	0.46274	.	.	0.236278675362	0.23226	0.49736474730303243	0.49657	0.539597992946	0.51187	0.512709677219	0.40601	T	0.028962	0.20860	T	-0.460703	0.00973	T	-0.427722	0.30195	T	0.0420147288614007	0.04057	T	0.755224	0.38363	T	0.05478315	0.10559	0.08867343	0.20691	0.05478315	0.10559	0.08867343	0.20690	-6.187	0.47818	T	.	.	0.204	0.59091	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.265460	0.28955	17.97	0.99508494803114966	0.68499	0.38144	0.25922	N	AEFDBI	0.133062	0.25259	N	-0.339240211854061	0.27670	1.519972	-0.354431894277662	0.26372	1.456256	0.76719612996331	0.23608	0.553676	0.25195	0	0.626922	0.53725	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.28	3.4	0.38031	1.069000	0.30252	.	.	-0.677000	0.04263	0.827000	0.30089	0.730000	0.26410	0.155000	0.20479	0.0839:0.1522:0.7639:0.0	8.767	0.33868	571	0.70397	.;.;.;.;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	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2227.06	33	chr10	122633295	.	G	A	2227.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.42;DP=370;ExcessHet=0.4139;FS=3.849;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=1.02;SOR=0.469	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1142,0,1693	4	0	2	0
chr10	122636044	122636044	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon37:c.G4331A:p.R1444H,DMBT1:NM_017579:exon49:c.G6185A:p.R2062H,DMBT1:NM_001320644:exon50:c.G6212A:p.R2071H,DMBT1:NM_007329:exon50:c.G6215A:p.R2072H,DMBT1:NM_001377530:exon53:c.G6602A:p.R2201H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00319302564903	0.0015	0.00259585	0.0004	0.0048	0	0	0	4.496e-05	0	6.058e-05	0.0004204	65	154602	rs199856639	0.0001	0.0001	0.0001	0.0001	0.0040	0.0001	0.0001	0.0034	0.0032	0.0040	0.0002	0.0001	0	0	0.0005	1.259e-05	0.0005	2.319e-05	0.0012	0.0012	0.0013	0.0011	0.0042	0.0011	0.0010	0.0037	0.0035	0.0042	0	0.0003	0.0012	0	0	0	1.47e-05	0.0014	0	0.669	0.04575	T	1.0	0.01155	T	0.008	0.14655	B	0.005	0.11217	B	0.732048	0.06376	N	1.172560	1	0.08975	N	0.725	0.18768	N	2.21	0.18414	T	2.87	0.00269	N	0.081	0.16308	-0.9660	0.38013	T	0.020	0.08453	T	10	0.0071528256	0.00163	T	0.003193	0.06996	T	0.021	0.04004	.	.	0.348101942276	0.34424	0.10967633304233301	0.10896	0.174241393469	0.19618	0.396219611168	0.24542	T	0.012147	0.10726	T	-0.683747	0.00046	T	-0.754528	0.03313	T	0.014381836168468	0.00289	T	0.0137986	0.00087	T	0.01975987	0.00514	0.025866369	0.00648	0.01975987	0.00513	0.025866369	0.00647	-3.786	0.20595	T	.	.	0.068	0.02639	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.488622	0.01904	0.158	0.1544210803512206	0.00378	0.00323	0.01694	N	AEFBI	0.031850	0.03484	N	-1.38940946166204	0.02737	0.1212714	-1.38817605753912	0.03377	0.1574118	0.00598563775109804	0.11096	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.37	-1.47	0.08312	-0.143000	0.10278	.	.	-0.046000	0.17342	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3911:0.0:0.226:0.3829	3.400	0.06897	570	0.70478	.;.;.;.;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	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.1667	2195.06	34	chr10	122636044	.	G	A	2195.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.94;DP=288;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.443;SOR=0.711	GT:AD:DP:GQ:PL	0/1:34,37:71:99:1114,0,820	4	0	2	0
chr10	122636161	122636161	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon37:c.G4448A:p.R1483Q,DMBT1:NM_017579:exon49:c.G6302A:p.R2101Q,DMBT1:NM_001320644:exon50:c.G6329A:p.R2110Q,DMBT1:NM_007329:exon50:c.G6332A:p.R2111Q,DMBT1:NM_001377530:exon53:c.G6719A:p.R2240Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00415114490683	0.0010	0.00159744	0.0003	0.0031	0	0	0.0002	0	0	0	0.0002587	40	154602	rs201259183	8.552e-05	8.551e-05	9.938e-05	7.152e-05	0.0024	7.313e-05	6.817e-05	0.0020	0.0018	0.0024	0.0001	0	0	7.491e-05	0.0002	1.439e-05	0.0002	3.48e-05	0.0008	0.0008	0.0008	0.0008	0.0029	0.0007	0.0007	0.0025	0.0024	0.0029	0	6.536e-05	0	0	9.429e-05	0	1.47e-05	0.0014	0	0.825	0.05341	T	0.742	0.05274	T	0.994	0.66517	D	0.436	0.45556	B	0.390462	0.04474	N	1.517430	1	0.08975	N	0.96	0.23930	L	2.26	0.17596	T	0.06	0.08495	N	0.028	0.01274	-0.9992	0.30143	T	0.018	0.07518	T	10	0.005709946	0.00127	T	0.004151	0.09963	T	0.041	0.10877	.	.	0.0806252709748	0.07271	0.08278961387479095	0.08213	0.167019727277	0.18835	0.18999171257	0.00225	T	0.014141	0.12098	T	-0.730691	0.00024	T	-0.826355	0.01328	T	0.0164118218151024	0.00408	T	0.171583	0.03035	T	0.022094391	0.00850	0.027538057	0.00915	0.022094391	0.00849	0.027538057	0.00915	-1.357	0.01496	T	.	.	0.115	0.23041	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.433939	0.02088	0.195	0.73026961422913816	0.10181	0.00717	0.03025	N	AEFGBI	0.050958	0.08956	N	-2.08683654121325	0.00137	0.005859077	-2.18710016082021	0.00120	0.005257791	0.999999360340619	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.52	-11.0	0.00133	-2.521000	0.01027	.	.	-1.789000	0.00640	0.000000	0.06391	0.000000	0.08366	0.577000	0.30821	0.2768:0.0799:0.4063:0.237	3.885	0.08599	570	0.70478	.;.;.;.;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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2770.06	34	chr10	122636161	.	G	A	2770.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.2;DP=341;ExcessHet=0.4139;FS=1.763;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.04;SOR=0.868	GT:AD:DP:GQ:PL	0/1:49,57:106:99:1442,0,1037	4	0	2	0
chr10	123137633	123137633	G	A	exonic	HMX3	.	nonsynonymous SNV	HMX3:NM_001105574:exon2:c.G976A:p.A326T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0025	0.00499201	0.0031	0.0344	0.0045	0	0	0.0001	0.0044	0	0.0012807	198	154602	rs371335454	0.0006	0.0006	0.0007	0.0005	0.0179	0.0006	0.0006	0.0166	0.0161	0.0179	0.0023	0	2.642e-05	0	0.0006	0.0001	0.0015	2.684e-05	0.0050	0.0050	0.0051	0.0048	0.0165	0.0047	0.0045	0.0154	0.0150	0.0165	0	0.0037	0	0	0	0	2.941e-05	0.0052	0	0.144	0.25255	T	0.497	0.11299	T	0.349	0.33622	B	0.07	0.27859	B	0.000005	0.62929	D	0.000000	0.919769	0.36643	D	0.6	0.15550	N	-2.91	0.91696	D	-0.6	0.17834	N	0.294	0.33250	-0.1248	0.79522	T	0.430	0.77219	T	10	0.004415095	0.00090	T	.	.	.	0.315	0.63694	.	.	0.722340994916	0.71989	0.6094840894012252	0.60880	0.678397583926	0.59883	0.735640525818	0.72332	T	0.104847	0.41478	T	-0.282326	0.10423	T	-0.162062	0.58165	T	0.0161288583793228	0.00390	T	0.676832	0.28555	T	0.09205334	0.21587	0.14201182	0.33800	0.09205334	0.21586	0.14201182	0.33799	-6.203	0.47947	T	.	.	0.074	0.04889	B	.	.	3.761601	0.53977	23.4	0.99609583920949507	0.74694	0.94951	0.62900	D	AEFDBHCI	0.560751	0.56902	D	-0.151783548947576	0.35160	2.015967	0.0175936624653418	0.40532	2.420447	0.999999522174248	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.66	4.66	0.57857	1.326000	0.33341	8.580000	0.77642	0.656000	0.54149	0.986000	0.36153	1.000000	0.68203	0.949000	0.49496	0.0:0.2048:0.7952:0.0	13.479	0.60780	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	0.001535	0.000000	0.002778	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2672.06	34	chr10	123137633	.	G	A	2672.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.627;DP=307;ExcessHet=0.4139;FS=3.884;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.69;SOR=1.023	GT:AD:DP:GQ:PL	0/1:25,44:69:99:1081,0,542	4	0	2	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	.	.	.	.	.	.	.	.	0.5	3886.55	86	chr10	124989543	.	T	C	3886.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.798;DP=634;ExcessHet=11.5949;FS=16.072;MLEAC=6;MLEAF=0.5;MQ=50.35;MQRankSum=-6.863;QD=6.18;ReadPosRankSum=0.379;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,38:121:99:0|1:124989533_G_A:1326,0,3257:124989533	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1855.48	93	chr10	124989564	.	TG	T	1855.48	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.937;DP=669;ExcessHet=6.1542;FS=22.753;MLEAC=5;MLEAF=0.417;MQ=52.45;MQRankSum=-6.151;QD=3.55;ReadPosRankSum=-1.825;SOR=0.183	GT:AD:DP:GQ:PL	0/1:88,29:117:99:729,0,2925	1	0	5	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	567.06	102	chr10	124989579	.	G	C	567.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.07;DP=647;ExcessHet=0.4139;FS=32.288;MLEAC=2;MLEAF=0.167;MQ=53.74;MQRankSum=-7.507;QD=2.36;ReadPosRankSum=-3.028;SOR=0.747	GT:AD:DP:GQ:PL	0/1:111,21:132:99:273,0,2971	4	0	2	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	.	.	.	.	.	.	.	.	0.4167	1416.52	147	chr10	124994489	.	T	G	1416.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.95;DP=755;ExcessHet=6.1542;FS=33.012;MLEAC=5;MLEAF=0.417;MQ=58.07;MQRankSum=-8.191;QD=2.09;ReadPosRankSum=-3.293;SOR=3.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,21:154:99:0|1:124994489_T_G:481,0,5516:124994489	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	2194.52	159	chr10	124994501	.	G	A	2194.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.641;DP=861;ExcessHet=6.1542;FS=33.341;MLEAC=5;MLEAF=0.417;MQ=57.59;MQRankSum=-7.95;QD=3.04;ReadPosRankSum=-2.138;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,25:160:99:0|1:124994489_T_G:631,0,5568:124994489	1	0	5	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	.	.	.	.	.	.	.	.	0.4167	2212.52	159	chr10	124994505	.	A	T	2212.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.83;DP=871;ExcessHet=6.1542;FS=33.335;MLEAC=5;MLEAF=0.417;MQ=57.51;MQRankSum=-7.894;QD=3.09;ReadPosRankSum=-1.23;SOR=3.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,25:158:99:0|1:124994489_T_G:637,0,5484:124994489	1	0	5	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3005.55	168	chr10	124994530	.	G	A	3005.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.746;DP=943;ExcessHet=11.5949;FS=48.068;MLEAC=6;MLEAF=0.5;MQ=56.62;MQRankSum=-6.592;QD=3.63;ReadPosRankSum=2.07;SOR=4.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,29:151:99:0|1:124994523_G_A:822,0,4893:124994523	0	0	6	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1629.54	164	chr10	124994542	.	C	T	1629.54	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.508;DP=944;ExcessHet=11.5949;FS=56.34;MLEAC=6;MLEAF=0.5;MQ=56.51;MQRankSum=-6.252;QD=2.04;ReadPosRankSum=3.19;SOR=4.285	GT:AD:DP:GQ:PL	0/1:112,32:144:99:486,0,3325	0	0	6	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1627.61	163	chr10	124994563	.	A	T	1627.61	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.781;DP=939;ExcessHet=3.1439;FS=59.81;MLEAC=4;MLEAF=0.333;MQ=56.33;MQRankSum=-6.314;QD=2.9;ReadPosRankSum=3.01;SOR=4.512	GT:AD:DP:GQ:PL	0/1:111,35:146:99:519,0,3275	2	0	4	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4211.55	168	chr10	124994577	.	C	A	4211.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.901;DP=938;ExcessHet=11.5949;FS=67.395;MLEAC=6;MLEAF=0.5;MQ=56.29;MQRankSum=-6.279;QD=5.19;ReadPosRankSum=2.52;SOR=4.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,35:145:99:0|1:124994577_C_A:1139,0,4443:124994577	0	0	6	0
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M,CTBP2:NM_022802:exon2:c.C1814T:p.T605M,CTBP2:NM_001321013:exon3:c.C194T:p.T65M,CTBP2:NM_001083914:exon4:c.C194T:p.T65M,CTBP2:NM_001290214:exon4:c.C194T:p.T65M,CTBP2:NM_001290215:exon4:c.C194T:p.T65M,CTBP2:NM_001321012:exon4:c.C194T:p.T65M,CTBP2:NM_001321014:exon4:c.C194T:p.T65M,CTBP2:NM_001329:exon4:c.C194T:p.T65M	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	112.7	60	chr10	125003357	.	G	A	112.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.14;DP=330;ExcessHet=0;FS=3.429;MLEAC=1;MLEAF=0.1;MQ=58.91;MQRankSum=-7.902;QD=1.76;ReadPosRankSum=-3.656;SOR=1.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,7:64:99:0|1:125003350_T_C:122,0,2342:125003350	4	0	1	1
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E,CTBP2:NM_022802:exon2:c.C1803G:p.D601E,CTBP2:NM_001321013:exon3:c.C183G:p.D61E,CTBP2:NM_001083914:exon4:c.C183G:p.D61E,CTBP2:NM_001290214:exon4:c.C183G:p.D61E,CTBP2:NM_001290215:exon4:c.C183G:p.D61E,CTBP2:NM_001321012:exon4:c.C183G:p.D61E,CTBP2:NM_001321014:exon4:c.C183G:p.D61E,CTBP2:NM_001329:exon4:c.C183G:p.D61E	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	121.97	60	chr10	125003368	.	G	C	121.97	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.36;DP=328;ExcessHet=0;FS=4.757;MLEAC=1;MLEAF=0.1;MQ=58.99;MQRankSum=-6.728;QD=2;ReadPosRankSum=-1.279;SOR=1.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,7:61:99:0|1:125003350_T_C:131,0,2246:125003350	4	0	1	1
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	154.85	60	chr10	125003381	.	AC	A	154.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.662;DP=313;ExcessHet=0;FS=4.69;MLEAC=1;MLEAF=0.083;MQ=58.94;MQRankSum=-6.875;QD=3.1;ReadPosRankSum=-0.858;SOR=1.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,7:50:99:0|1:125003381_AC_A:165,0,1777:125003381	5	0	1	0
chr10	125003410	125003410	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G345C:p.E115D,CTBP2:NM_022802:exon2:c.G1761C:p.E587D,CTBP2:NM_001321013:exon3:c.G141C:p.E47D,CTBP2:NM_001083914:exon4:c.G141C:p.E47D,CTBP2:NM_001290214:exon4:c.G141C:p.E47D,CTBP2:NM_001290215:exon4:c.G141C:p.E47D,CTBP2:NM_001321012:exon4:c.G141C:p.E47D,CTBP2:NM_001321014:exon4:c.G141C:p.E47D,CTBP2:NM_001329:exon4:c.G141C:p.E47D	.	421	824	273	4	0	281	0.145671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0418347474684	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs74705267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.088	0.62352	T	0.043	0.35387	B	0.17	0.48482	B	0.000054	0.53742	D	0.195283	0.999999	0.58761	D	0.98	0.24916	L	0.68	0.51952	T	-2.71	0.59710	D	0.686	0.73555	-0.5581	0.66476	T	0.255	0.62530	T	10	0.56158	0.64817	D	0.041835	0.60142	D	0.261	0.57352	0.434	0.48500	0.881554203603	0.88039	0.972171025341375	0.97206	1.7143308071	0.90477	0.748663306236	0.74250	T	0.62925	0.88488	D	0.139244	0.68253	D	-0.0377626	0.67852	D	0.957904279232025	0.65131	D	0.844016	0.52137	T	0.77675706	0.82455	0.4746194	0.69552	0.77675706	0.82456	0.4746194	0.69552	-14.274	0.93913	D	.	.	0.998	0.98268	P	.;.;.;.;.;.	.;.;.;.;.;.	4.166684	0.62622	24.5	0.99797317996392532	0.88283	0.94867	0.62605	D	AEFDGBHCI	0.781566	0.71311	D	0.172151716873866	0.49864	3.182254	0.205790313476848	0.50167	3.211761	0.999999999997825	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.8	0.42887	5.029000	0.63903	1.014000	0.23354	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9225:0.0:0.0775	13.510	0.60961	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	72.7	68	chr10	125003410	.	C	G	72.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.078;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.49;MQRankSum=-6.58;QD=1.62;ReadPosRankSum=2.71;SOR=0.551	GT:AD:DP:GQ:PL	0/1:38,7:45:82:82,0,1143	4	0	1	1
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	268.59	62	chr10	125003448	.	G	C	268.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.52;DP=253;ExcessHet=1.383;FS=1.013;MLEAC=3;MLEAF=0.3;MQ=58.86;MQRankSum=-5.588;QD=2.05;ReadPosRankSum=1.01;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,7:36:99:0|1:125003425_G_C:207,0,1197:125003425	2	0	3	1
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	187.59	63	chr10	125003450	.	G	A	187.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.524;DP=245;ExcessHet=1.383;FS=3.987;MLEAC=3;MLEAF=0.3;MQ=58.98;MQRankSum=-5.498;QD=1.47;ReadPosRankSum=0.804;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,5:33:99:0|1:125003425_G_C:126,0,1161:125003425	2	0	3	1
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	184.99	64	chr10	125003453	.	CG	C	184.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.666;DP=242;ExcessHet=1.383;FS=3.987;MLEAC=3;MLEAF=0.25;MQ=58.98;MQRankSum=-5.498;QD=1.45;ReadPosRankSum=0.473;SOR=1.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,5:32:99:0|1:125003425_G_C:129,0,1119:125003425	3	0	3	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	193.58	64	chr10	125003460	.	G	T	193.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.866;DP=238;ExcessHet=1.383;FS=2.229;MLEAC=3;MLEAF=0.3;MQ=59.14;MQRankSum=-5.498;QD=1.54;ReadPosRankSum=0.21;SOR=0.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,5:30:99:0|1:125003425_G_C:135,0,1035:125003425	2	0	3	1
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	185.02	65	chr10	125003466	.	G	T	185.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.714;DP=234;ExcessHet=1.383;FS=2.453;MLEAC=3;MLEAF=0.25;MQ=58.97;MQRankSum=-5.388;QD=1.45;ReadPosRankSum=-0.064;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,5:30:99:0|1:125003425_G_C:135,0,1035:125003425	3	0	3	0
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	191.02	64	chr10	125003468	.	C	A	191.02	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.988;DP=236;ExcessHet=1.383;FS=1.049;MLEAC=3;MLEAF=0.25;MQ=59.14;MQRankSum=-5.588;QD=1.52;ReadPosRankSum=-0.2;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,5:29:99:0|1:125003425_G_C:138,0,993:125003425	3	0	3	0
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	196.58	64	chr10	125003470	.	G	T	196.58	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.418;DP=235;ExcessHet=1.383;FS=1.042;MLEAC=3;MLEAF=0.3;MQ=59.14;MQRankSum=-5.498;QD=1.57;ReadPosRankSum=-0.496;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,5:29:99:0|1:125003425_G_C:138,0,993:125003425	2	0	3	1
chr10	125003481	125003481	G	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001363508:exon2:c.C274T:p.Q92X,CTBP2:NM_022802:exon2:c.C1690T:p.Q564X,CTBP2:NM_001321013:exon3:c.C70T:p.Q24X,CTBP2:NM_001083914:exon4:c.C70T:p.Q24X,CTBP2:NM_001290214:exon4:c.C70T:p.Q24X,CTBP2:NM_001290215:exon4:c.C70T:p.Q24X,CTBP2:NM_001321012:exon4:c.C70T:p.Q24X,CTBP2:NM_001321014:exon4:c.C70T:p.Q24X,CTBP2:NM_001329:exon4:c.C70T:p.Q24X	.	405	1111	6	0	0	6	0.002693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000116	0.50451	D	0.191765	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.87	0.88356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.	.;High;.;.;.;.	11.606090	0.99947	54	0.99834869762320466	0.91628	0.98687	0.85586	D	AEFDBHCI	0.360541	0.45047	N	1.17611805747486	0.99300	21.77164	1.01261087230075	0.98856	19.63335	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.818000	0.98285	11.569000	0.93274	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	130.83	56	chr10	125003481	.	G	A	130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=226;ExcessHet=0;FS=5.383;MLEAC=1;MLEAF=0.083;MQ=58.3;MQRankSum=-5.121;QD=4.67;ReadPosRankSum=-1.531;SOR=2.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,5:28:99:0|1:125003481_G_A:141,0,921:125003481	5	0	1	0
chr10	125003490	125003490	-	TCCTC	exonic	CTBP2	.	frameshift insertion	CTBP2:NM_001363508:exon2:c.264_265insGAGGA:p.I89Efs*8,CTBP2:NM_022802:exon2:c.1680_1681insGAGGA:p.I561Efs*8,CTBP2:NM_001321013:exon3:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001083914:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001290214:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001290215:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001321012:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001321014:exon4:c.60_61insGAGGA:p.I21Efs*8,CTBP2:NM_001329:exon4:c.60_61insGAGGA:p.I21Efs*8	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	130.79	54	chr10	125003490	.	T	TTCCTC	130.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.1;DP=212;ExcessHet=0;FS=12.935;MLEAC=1;MLEAF=0.083;MQ=58.81;MQRankSum=-5.121;QD=4.67;ReadPosRankSum=-2.399;SOR=3.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,5:28:99:0|1:125003481_G_A:141,0,910:125003481	5	0	1	0
chr10	125003492	125003492	-	AAATT	exonic	CTBP2	.	frameshift insertion	CTBP2:NM_001363508:exon2:c.262_263insAATTT:p.G88Efs*9,CTBP2:NM_022802:exon2:c.1678_1679insAATTT:p.S560Kfs*9,CTBP2:NM_001321013:exon3:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001083914:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001290214:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001290215:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001321012:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001321014:exon4:c.58_59insAATTT:p.G20Efs*9,CTBP2:NM_001329:exon4:c.58_59insAATTT:p.G20Efs*9	.	407	1111	4	0	0	4	0.00179695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	133.79	54	chr10	125003492	.	C	CAAATT	133.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.06;DP=203;ExcessHet=0;FS=12.715;MLEAC=1;MLEAF=0.083;MQ=58.79;MQRankSum=-5.021;QD=4.96;ReadPosRankSum=-1.621;SOR=3.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,5:27:99:0|1:125003481_G_A:144,0,889:125003481	5	0	1	0
chr10	127737277	127737277	G	A	exonic	FOXI2	.	nonsynonymous SNV	FOXI2:NM_207426:exon1:c.G4A:p.A2T	.	.	.	.	.	.	.	.	.	.	.	3432693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.358	0.827338608696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.569e-07	9.577e-06	1.493e-06	0	9.482e-07	0	0	.	.	0	0	0	0	0	0	9.482e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.015	0.61642	D	0.901	0.49677	P	0.333	0.42166	B	0.000076	0.52346	U	0.075866	0.93811	0.37214	D	2.83	0.82355	M	-3.61	0.95043	D	-1.66	0.39692	N	0.329	0.36989	0.273	0.87121	D	0.696	0.89514	D	10	0.57783985	0.65680	D	0.827339	0.98660	D	0.358	0.67872	0.129	0.03412	0.737537335342	0.73519	0.3642433520262273	0.36338	0.570319911439	0.53190	0.726639151573	0.71015	T	0.039095	0.25071	T	0.0948953	0.63736	D	-0.101466	0.63285	T	0.71764349937439	0.41581	D	0.290471	0.05292	T	0.065114684	0.13883	0.16004187	0.37296	0.065114684	0.13883	0.16004187	0.37295	-3.857	0.21659	T	.	.	0.119	0.24532	B	.	.	1.839180	0.23369	15.99	0.9969293993434355	0.80044	0.47354	0.27964	N	AEFDBCI	0.184844	0.31217	N	-0.00922532005273684	0.41436	2.478496	-0.0295892245417451	0.38385	2.260735	0.99999398785555	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.57	2.59	0.30091	1.202000	0.31878	1.218000	0.24956	0.583000	0.30283	0.876000	0.30908	0.973000	0.29867	0.622000	0.31948	0.0:0.0:0.7986:0.2014	9.989	0.41032	783	0.47268	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	34.83	26	chr10	127737277	.	G	A	34.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.915;DP=134;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.425;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:127737277_G_A:45,0,540:127737277	5	0	1	0
chr10	127737280	127737280	A	C	exonic	FOXI2	.	nonsynonymous SNV	FOXI2:NM_207426:exon1:c.A7C:p.T3P	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.730595700972	.	0.00439297	0.0007	0	0	0	.	0.0012	0	0.0005	0.0002652	41	154602	rs553970386	0.0011	0.0010	0.0012	0.0010	0.0010	0.0011	0.0010	0.0009	0.0009	0.0001	4.172e-05	0	0	0.0100	0.0005	0.0010	0.0013	0.0004	0.0014	0.0014	0.0012	0.0016	0.0011	0.0012	0.0012	0.0009	0.0009	0.0002	0	0.0001	0	0	0.0106	0	0.0011	0.0009	0.0006	0.155	0.24183	T	0.171	0.30339	T	0.171	0.28729	B	0.032	0.22131	B	0.306344	0.14510	U	0.616872	1	0.08975	N	1.39	0.34934	L	-3.17	0.93054	D	-1.56	0.37759	N	0.165	0.17416	-0.4324	0.70988	T	0.520	0.82081	D	10	0.008882493	0.00201	T	0.730596	0.97831	D	0.249	0.55752	.	.	0.42069145522	0.41685	0.23750145731972208	0.23665	1.6452578664	0.89422	0.561486840248	0.47478	T	0.025693	0.19163	T	-0.275417	0.11160	T	-0.187408	0.55833	T	0.029065887338693	0.01847	T	0.214779	0.02659	T	0.12799919	0.29936	0.16853191	0.38820	0.12799919	0.29936	0.16853191	0.38819	-2.749	0.07724	T	.	.	0.074	0.04889	B	.	.	1.415519	0.18313	13.67	0.91611941438998401	0.20895	0.07389	0.13409	N	AEFDBCI	0.216649	0.34187	N	-0.897550482708039	0.10900	0.523231	-0.948086538793386	0.10967	0.555838	0.999830745653195	0.43792	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.57	0.281	0.14938	0.570000	0.23357	0.060000	0.14119	0.651000	0.53179	0.000000	0.06391	0.000000	0.08366	0.452000	0.27939	0.277:0.1942:0.3319:0.1969	0.407	0.00405	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	34.83	26	chr10	127737280	.	A	C	34.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.911;DP=135;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.255;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:127737277_G_A:45,0,540:127737277	5	0	1	0
chr10	133423669	133423669	G	A	exonic	SPRN	.	nonsynonymous SNV	SPRN:NM_001012508:exon2:c.C13T:p.P5S	.	417	1104	1	0	0	1	0.000452694	.	.	.	3607846	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0246515913978	.	0.000399361	0.0001	0.0022	0	0	0	0	0	0	9.7e-05	15	154602	rs567380216	2.52e-05	3.968e-05	3.2e-05	1.831e-05	0.0008	1.845e-05	1.637e-05	0.0006	0.0005	0.0008	2.332e-05	0	0	0	0	9.122e-07	0.0001	0	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0011	0	0	0	0	0	0	0	0	0	0.042	0.41637	D	0.208	0.26883	T	0.026	0.19406	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	1.05	0.39990	T	0.1	0.05810	N	0.037	0.01135	-1.0334	0.19363	T	0.043	0.18701	T	9	0.009829938	0.00221	T	0.024652	0.47637	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.08628055734020512	0.08562	.	.	0.746193051338	0.73884	T	6.58E-4	0.00285	T	-0.575047	0.00207	T	-0.644344	0.09355	T	0.0264200830763818	0.01463	T	0.775222	0.40690	T	0.040480513	0.05784	0.09105844	0.21388	0.040480513	0.05784	0.09105844	0.21387	-3.85	0.21553	T	.	.	0.088	0.11845	B	.	.	1.560204	0.19987	14.53	0.99588543059111168	0.73454	0.02231	0.06481	N	AEFDBHI	0.042802	0.06686	N	-1.15988473931045	0.05619	0.2566433	-1.13457788143324	0.07048	0.3414064	0.965969012289178	0.28869	0.59774	0.34471	0	0.550933	0.16991	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.19	-0.352	0.11972	-0.170000	0.09886	1.094000	0.24007	-0.270000	0.06752	0.001000	0.13787	0.172000	0.23351	0.728000	0.35033	0.0:0.4487:0.3518:0.1995	5.642	0.16847	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000534	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	986.83	50	chr10	133423669	.	G	A	986.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.97;DP=339;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.72;SOR=0.763	GT:AD:DP:GQ:PL	0/1:28,38:66:99:997,0,608	5	0	1	0
chr11	694956	694994	GCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACC	-	exonic	DEAF1	.	nonframeshift deletion	DEAF1:NM_001293634:exon1:c.54_92del:p.18_31del,DEAF1:NM_021008:exon1:c.54_92del:p.V19_A31del	Mental retardation, autosomal dominant 24, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1177497	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	0.0011	0	0.0004	6.5e-06	1	154602	rs778007178	0.0003	0.0005	0.0003	0.0003	0.0010	0.0003	0.0002	0.0007	0.0006	0.0002	0.0009	0.0005	0.0005	0.0005	0.0004	0.0002	0.0004	0.0010	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0006	0.0004	0.0002	0	0.0001	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	78.3	4	chr11	694955	.	GGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACC	G	78.3	.	AC=2;AF=0.25;AN=8;DP=32;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;QD=29.73;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:91,6,0	3	1	0	2
chr11	1024858	1024858	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon24:c.A3211C:p.T1071P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	.	.	0.0225	0.0323	0.0224	0.0282	0.0696	0.0223	0.0307	0.0048	6.5e-06	1	154602	rs201059141	0.0008	0.0009	0.0008	0.0009	0.0040	0.0008	0.0008	0.0035	0.0033	0.0011	0.0036	0.0007	0.0040	0.0068	0.0007	0.0004	0.0009	0.0005	6.583e-06	6.57e-06	0	1.348e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.241	0.17643	T	0.081	0.41742	T	0.005	0.12996	B	0.003	0.08700	B	0.008986	0.30568	U	0.000000	0.999999	0.08975	N	-1.145	0.00921	N	-1.02	0.76300	T	-1.2	0.30555	N	0.081	0.05670	-0.9192	0.45662	T	0.177	0.52272	T	10	0.015320063	0.00321	T	.	.	.	0.157	0.40909	.	.	.	.	0.7226422632551922	0.72208	0.116626031118	0.13156	0.355671703815	0.18753	T	0.024141	0.18296	T	-0.123719	0.32517	T	-0.41549	0.31594	T	0.00302622619343123	0.00032	T	.	.	.	0.1200233	0.28250	0.13835762	0.33045	0.1200233	0.28249	0.13835762	0.33044	-7.248	0.55825	T	.	.	0.056	0.00444	B	.	.	1.169156	0.15586	11.96	0.48907839286492688	0.04120	0.21225	0.21326	N	AEFBCI	0.198990	0.32581	N	-1.23303417095842	0.04528	0.2045507	-1.18282218730486	0.06196	0.2974991	0.0865355204160233	0.16011	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.9	1.94	0.25058	0.408000	0.20787	-3.491000	0.02746	-2.986000	0.00144	0.029000	0.20367	0.000000	0.08366	0.008000	0.08271	0.1433:0.6403:0.1383:0.0781	5.673	0.17007	825	0.40060	Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.068182	0.082474	0.106557	0.046784	0.050000	0.120690	0.076220	0.071970	0.08333	972.83	33	chr11	1024858	.	T	G	972.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=239;ExcessHet=0;FS=3.748;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.511;SOR=0.345	GT:AD:DP:GQ:PL	0/1:33,36:69:99:983,0,893	5	0	1	0
chr11	1031202	1031202	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon5:c.G541A:p.G181R	.	415	1086	21	0	0	21	0.00957592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	.	0.0009	0.00279553	0.0081	0.0004	0.0050	0.0005	0.0666	0.0066	0.0176	0.0068	0.0027102	419	154602	rs139011641	0.0022	0.0022	0.0020	0.0024	0.0159	0.0021	0.0021	0.0132	0.0123	0.0005	0.0014	0.0020	2.651e-05	0.0271	0.0159	0.0008	0.0031	0.0061	0.0030	0.0031	0.0016	0.0044	0.0043	0.0028	0.0027	0.0028	0.0024	7.331e-05	0	0.0017	0.0035	0.0002	0.0282	0.0136	0.0013	0.0038	0.0043	0.023	0.48186	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.007972	0.31093	U	0.000000	0.990232	0.41116	D	3.175	0.88760	M	-0.07	0.63738	T	-7.09	0.93950	D	0.471	0.50688	-0.0199	0.81841	T	0.373	0.73197	T	10	0.005497366	0.00121	T	.	.	.	0.427	0.73445	0.749	0.87988	0.802521860083	0.80068	0.8617723739993726	0.86141	0.106557750624	0.12047	0.55417406559	0.46446	T	0.183092	0.53531	T	-0.286525	0.09987	T	-0.182845	0.56258	T	0.191765278577805	0.19948	T	.	.	.	0.33262926	0.55684	0.37870377	0.62942	0.33262926	0.55684	0.37870377	0.62942	-8.624	0.65248	D	.	.	0.240	0.47371	B	.	.	3.293412	0.45176	22.1	0.99634560934350225	0.76264	0.98301	0.81414	D	AEFDBI	0.688841	0.64971	D	0.429867953025855	0.63072	4.534013	0.271884219551687	0.53903	3.557242	0.99998133804765	0.51787	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.66	3.66	0.41111	2.493000	0.44979	1.016000	0.23368	0.527000	0.24520	0.023000	0.19925	0.386000	0.24640	0.018000	0.11154	0.0:1.0:0.0:0.0	15.755	0.77783	835	0.38313	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	rs139011641	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	401.83	33	chr11	1031202	.	C	T	401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.25;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.18;ReadPosRankSum=1.52;SOR=0.836	GT:AD:DP:GQ:PL	0/1:37,19:56:99:412,0,866	5	0	1	0
chr11	1096464	1096464	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	559	960	3	0	0	3	0.00156006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428478288	0.0001	0.0024	0.0001	0.0001	0.0009	0.0001	0.0001	0.0004	0.0002	0	5.795e-05	0.0002	2.921e-05	2.862e-05	0.0009	0.0001	0.0002	7.793e-05	0.0006	0.0017	0.0006	0.0005	0.0008	0.0005	0.0004	0.0006	0.0006	0.0001	0	0.0006	0.0026	0	0	0	0.0008	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	229.83	195	chr11	1096464	.	C	A	229.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.671;DP=1561;ExcessHet=0;FS=21.21;MLEAC=1;MLEAF=0.083;MQ=52.25;MQRankSum=-1.439;QD=0.88;ReadPosRankSum=-1.688;SOR=2.271	GT:AD:DP:GQ:PL	0/1:229,33:262:99:240,0,6212	5	0	1	0
chr11	1096638	1096638	-	CACCACCACTATGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCTACACCCATCTC	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.822e-05	0.0002	6.71e-05	0.0001	0.0001	7.284e-05	6.712e-05	6.503e-05	5.575e-05	8.342e-05	7.575e-05	0.0002	0	0.0004	0	7.757e-05	9.64e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1367.64	52	chr11	1096638	.	G	GCACCACCACTATGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCTACACCCATCTC	1367.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.746;DP=657;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=53.86;MQRankSum=0.066;QD=11.12;ReadPosRankSum=-1.299;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,57:123:99:0|1:1096638_G_GCACCACCACTATGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCTACACCCATCTC:1376,0,1900:1096638	3	0	1	2
chr11	1099366	1099366	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1251.17	69	chr11	1099366	.	T	*	1251.17	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.276;DP=1706;ExcessHet=0.6695;FS=1.208;MLEAC=1;MLEAF=0.167;MQ=54.87;MQRankSum=-0.237;QD=2.81;ReadPosRankSum=-1.173;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,84:324:99:0|1:1099365_TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC_T:1706,0,8157:1099365	2	0	1	3
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	20062.4	51	chr11	1099370	.	G	*	20062.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=1775;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.07;MQRankSum=-0.862;QD=19.92;ReadPosRankSum=0.996;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,293:400:99:1|0:1099365_TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC_T:6900,2730,2865:1099365	5	0	1	0
chr11	1195145	1195174	GCCCACCACGGTCGGGCCCACCACAGTTGG	-	exonic	MUC5AC	.	nonframeshift deletion	MUC5AC:NM_001304359:exon36:c.15324_15353del:p.P5109_G5118del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	7.033e-05	3.84e-05	1	26028	rs758606605	0.0004	0.0004	0.0005	0.0004	0.0005	0.0004	0.0004	0.0002	0.0002	5.66e-05	2.29e-05	0.0068	0	2.676e-05	0.0005	0.0003	0.0007	7.17e-05	0.0003	0.0003	0.0004	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	7.533e-05	0	0	0.0050	0	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2939.79	123	chr11	1195144	.	CGCCCACCACGGTCGGGCCCACCACAGTTGG	C	2939.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.7;DP=698;ExcessHet=0;FS=3.733;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.234;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,93:234:99:0|1:1195109_A_C:2950,0,5200:1195109	5	0	1	0
chr11	2403286	2403286	C	G	exonic	TSSC4	.	nonsynonymous SNV	TSSC4:NM_001297659:exon3:c.C653G:p.P218R,TSSC4:NM_005706:exon3:c.C653G:p.P218R,TSSC4:NM_001297658:exon4:c.C653G:p.P218R,TSSC4:NM_001297660:exon4:c.C653G:p.P218R,TSSC4:NM_001297661:exon4:c.C461G:p.P154R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0517748546446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.69154	D	0.999	0.77913	D	0.98	0.74843	D	0.000043	0.53742	U	0.075021	0.940296	0.81001	D	1.965	0.53209	M	1.5	0.35960	T	-3.07	0.63207	D	0.616	0.70615	-0.6932	0.60759	T	0.193	0.54564	T	10	0.38401398	0.54405	T	0.051775	0.64800	D	0.246	0.55340	0.435	0.48664	0.29385284311	0.29004	0.4150058638441848	0.41416	0.130674028925	0.14740	0.598430991173	0.52683	T	0.206016	0.56523	T	-0.044927	0.45215	T	-0.302311	0.44482	T	0.927377164363861	0.59019	D	0.577142	0.20757	T	0.408272	0.61302	0.33283466	0.59128	0.408272	0.61302	0.33283466	0.59127	-3.592	0.19466	T	.	.	0.465	0.64113	A	.;.;.;.	.;.;.;.	4.024048	0.59457	24.1	0.99781117605807468	0.86780	0.90319	0.51400	D	AEFBCI	0.587022	0.58483	D	0.311736897913766	0.56751	3.840304	0.150816183642422	0.47185	2.952561	0.999998519137935	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.67	2.75	0.31439	4.612000	0.60873	7.129000	0.57618	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.386000	0.26469	0.0:0.9002:0.0:0.0998	10.066	0.41476	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2162.06	33	chr11	2403286	.	C	G	2162.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.933;DP=320;ExcessHet=0.4139;FS=5.591;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.55;SOR=0.404	GT:AD:DP:GQ:PL	0/1:52,35:87:99:871,0,1487	4	0	2	0
chr11	3038130	3038130	C	A	exonic	CARS1	.	nonsynonymous SNV	CARS1:NM_001378140:exon4:c.G196T:p.A66S,CARS1:NM_001378137:exon6:c.G442T:p.A148S,CARS1:NM_001378138:exon6:c.G442T:p.A148S,CARS1:NM_001751:exon6:c.G472T:p.A158S,CARS1:NM_139273:exon6:c.G472T:p.A158S,CARS1:NM_001014437:exon7:c.G721T:p.A241S,CARS1:NM_001194997:exon7:c.G721T:p.A241S,CARS1:NM_001378136:exon7:c.G511T:p.A171S,CARS1:NM_001378139:exon7:c.G442T:p.A148S	.	434	1016	66	6	0	78	0.0369668	.	.	.	701727	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0078	0.00738818	0.0099	0.0014	0.0065	0.0001	0.0030	0.0104	0.0187	0.0228	0.0095212	1472	154602	rs12796489	0.0100	0.0100	0.0094	0.0106	0.0394	0.0099	0.0098	0.0352	0.0335	0.0017	0.0067	0.0121	7.557e-05	0.0040	0.0394	0.0097	0.0110	0.0239	0.0076	0.0076	0.0076	0.0076	0.0232	0.0072	0.0071	0.0197	0.0184	0.0017	0	0.0102	0.0110	0	0.0033	0.0408	0.0105	0.0099	0.0232	0.643	0.04957	T	0.52	0.10465	T	0.003	0.12996	B	0.015	0.20792	B	0.001760	0.38106	N	0.256618	1	0.08975	N	0.325	0.10370	N	0.94	0.43672	T	0.24	0.04533	N	0.146	0.15609	-1.0238	0.22476	T	0.042	0.18035	T	10	0.0089785755	0.00203	T	.	.	.	0.068	0.19811	.	.	0.268211541103	0.26431	0.41422578982597624	0.41338	0.231550034422	0.25707	0.272399067879	0.06456	T	0.065227	0.32635	T	-0.664305	0.00059	T	-0.709419	0.05325	T	0.000694211314457137	0.00006	T	.	.	.	0.05427984	0.10392	0.04404145	0.05617	0.05427984	0.10391	0.04404145	0.05616	-4.286	0.27980	T	.	.	0.080	0.09530	B	.;.;.;.	.;.;.;.	-0.223372	0.02973	0.443	0.88549503278566	0.18065	0.25720	0.22782	N	AEFGBCI	0.105898	0.21146	N	-1.04813854451331	0.07624	0.354797	-1.07389750514943	0.08216	0.4030183	0.999994626051788	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.86	1.89	0.24700	0.330000	0.19460	-0.382000	0.09534	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.1906:0.7114:0.0:0.098	6.191	0.19738	884	0.28482	.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain;.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.024673	0.020202	0.021739	0.023392	0.000000	0.025862	0.024390	0.037879	0.1667	3015.06	40	chr11	3038130	.	C	A	3015.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.08;DP=402;ExcessHet=0.4139;FS=7.945;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.279;SOR=1.146	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1270,0,1526	4	0	2	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.08333	2633.83	122	chr11	4653052	.	A	G	2633.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.04;DP=675;ExcessHet=0;FS=1.628;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-1.256;SOR=0.809	GT:AD:DP:GQ:PL	0/1:120,101:221:99:2644,0,2909	5	0	1	0
chr11	5178588	5178588	C	0	exonic	OR52Z1	.	.	.	.	442	140	439	496	5	1436	0.836353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	555.01	40	chr11	5178588	.	C	*	555.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.439;DP=240;ExcessHet=2.3007;FS=3.529;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=-1.301;SOR=0.425	GT:AD:DP:GQ:PL	0/1:20,18:38:99:560,0,634	2	1	3	0
chr11	6768261	6768261	C	T	exonic	OR2AG2	.	nonsynonymous SNV	OR2AG2:NM_001004490:exon1:c.G697A:p.G233R	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00144634529571	0.0016	0.00159744	0.0016	0.0010	0.0014	0	0	0.0023	0.0033	0.0005	0.0016041	248	154602	rs143018775	0.0022	0.0022	0.0022	0.0022	0.0081	0.0021	0.0021	0.0063	0.0056	0.0004	0.0017	0.0015	0	0.0001	0.0081	0.0025	0.0026	0.0005	0.0019	0.0019	0.0020	0.0018	0.0057	0.0017	0.0017	0.0047	0.0044	0.0005	0	0.0057	0.0023	0	0	0.0204	0.0023	0.0043	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000084	0.51296	D	0.000000	1	0.08975	N	2.66	0.77858	M	8.25	0.00271	T	-7.04	0.93833	D	0.307	0.34659	-1.0040	0.28755	T	0.002	0.00526	T	10	0.010412455	0.00232	T	0.001446	0.02164	T	0.068	0.19811	0.584	0.71118	0.45553875121	0.45177	0.2119157015489632	0.21107	0.05690108089	0.06292	0.215650826693	0.01074	T	0.008477	0.07783	T	-0.530015	0.00384	T	-0.539964	0.18300	T	0.0602325163226866	0.07206	T	0.891311	0.62583	D	0.87381077	0.89166	0.76935583	0.86381	0.87381077	0.89167	0.76935583	0.86382	-9.395	0.70204	D	.	.	0.362	0.60630	A	.;.;.	.;.;.	3.953177	0.57923	23.9	0.9985118727065555	0.93013	0.08069	0.14042	N	AEFGBI	0.070082	0.13899	N	0.150399072860873	0.48831	3.090569	-0.0673493762495646	0.36749	2.142636	2.88814230646248E-4	0.06355	0.516011	0.20929	0	0.59043	0.45803	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.47	3.55	0.39770	-0.022000	0.12424	0.424000	0.18252	0.596000	0.33519	0.000000	0.06391	0.029000	0.21193	0.003000	0.05239	0.0:0.9061:0.0:0.0939	10.793	0.45648	496	0.76301	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	6697.06	44	chr11	6768261	.	C	T	6697.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.411;DP=605;ExcessHet=0.4139;FS=3.203;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.342;SOR=0.502	GT:AD:DP:GQ:PL	0/1:104,122:226:99:3268,0,2809	4	0	2	0
chr11	7000105	7000105	A	T	exonic	ZNF214	.	stopgain	ZNF214:NM_001354832:exon3:c.T1578A:p.Y526X,ZNF214:NM_001354833:exon3:c.T1536A:p.Y512X,ZNF214:NM_013249:exon3:c.T1578A:p.Y526X,ZNF214:NM_001354830:exon4:c.T1611A:p.Y537X,ZNF214:NM_001354831:exon4:c.T1578A:p.Y526X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001759	0.38106	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544351	0.95574	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.103150	0.96145	35	0.99607597970600614	0.74575	0.62495	0.31799	D	AEFBI	0.347279	0.44180	N	0.314165565931068	0.56874	3.85301	0.0829448796572253	0.43690	2.665672	0.750625308082461	0.23354	0.638212	0.43195	0	0.486142	0.07564	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	4.05	1.74	0.23636	0.257000	0.18137	1.566000	0.27387	0.751000	0.87719	0.000000	0.06391	0.996000	0.32793	0.988000	0.63387	0.7947:0.0:0.2053:0.0	6.794	0.22901	809	0.43032	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	887.83	35	chr11	7000105	.	A	T	887.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.26;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-0.785;SOR=0.663	GT:AD:DP:GQ:PL	0/1:63,38:101:99:898,0,1686	5	0	1	0
chr11	8717844	8717844	C	T	exonic	DENND2B	.	nonsynonymous SNV	DENND2B:NM_001376499:exon4:c.G986A:p.R329Q,DENND2B:NM_001376501:exon4:c.G266A:p.R89Q,DENND2B:NM_001376502:exon4:c.G266A:p.R89Q,DENND2B:NM_001376503:exon4:c.G266A:p.R89Q,DENND2B:NM_001376504:exon4:c.G266A:p.R89Q,DENND2B:NM_001376498:exon5:c.G1526A:p.R509Q,DENND2B:NM_213618:exon5:c.G1526A:p.R509Q,DENND2B:NM_001376497:exon6:c.G1526A:p.R509Q,DENND2B:NM_001376500:exon6:c.G845A:p.R282Q,DENND2B:NM_001376496:exon7:c.G1526A:p.R509Q,DENND2B:NM_139157:exon7:c.G266A:p.R89Q,DENND2B:NM_005418:exon8:c.G1526A:p.R509Q,DENND2B:NM_001376495:exon9:c.G1526A:p.R509Q	.	420	1101	1	0	0	1	0.000453926	.	.	.	3658673	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0178287707124	7.7e-05	.	6.594e-05	0.0004	0	0.0001	0.0002	2.998e-05	0	0	5.82e-05	9	154602	rs147807666	8.555e-05	8.551e-05	8.58e-05	8.531e-05	0.0004	7.316e-05	6.819e-05	0.0002	0.0002	0.0004	0.0002	3.83e-05	5.041e-05	7.489e-05	0.0002	7.737e-05	0.0002	0	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.714e-05	0.0001	8.434e-05	0.0002	0	0.0001	0	0	0.0002	0.0034	0.0001	0	0	0.052	0.65419	T	0.189	0.41405	T	0.212	0.36182	B	0.038	0.28043	B	0.011648	0.29451	N	0.299750	0.962124	0.81001	D	1.67	0.42885	L	3.0	0.09167	T	-1.9	0.48184	N	0.224	0.31478	-1.0702	0.09370	T	0.025	0.10910	T	10	0.094969034	0.16926	T	0.017829	0.39680	T	0.038	0.09825	.	.	0.328504224676	0.32467	0.3349839111627262	0.33411	0.753270066185	0.63885	0.602790951729	0.53298	T	0.051625	0.28933	T	-0.437302	0.01341	T	-0.523199	0.19971	T	0.0469592693617426	0.04958	T	0.990001	0.96919	D	0.16055606	0.36005	0.13225865	0.31741	0.16055606	0.36004	0.13225865	0.31740	-6.339	0.49031	T	.	.	0.098	0.36772	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.937253	0.81456	27.6	0.98190294356334995	0.39027	0.78603	0.38805	D	ALL	0.469846	0.51605	N	-0.28091705604091	0.29886	1.661332	-0.211567624281484	0.31119	1.758215	0.999999999977682	0.74766	0.706298	0.61202	0	0.616935	0.53198	0	0.709663	0.75317	0	0.654926	0.60358	0	.	.	5.01	4.1	0.47196	3.238000	0.51051	5.984000	0.52218	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9249:0.0:0.0751	13.479	0.60777	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1236.83	37	chr11	8717844	.	C	T	1236.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.089;DP=254;ExcessHet=0;FS=2.02;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.731;SOR=0.47	GT:AD:DP:GQ:PL	0/1:28,49:77:99:1247,0,646	5	0	1	0
chr11	17631896	17631896	C	T	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon40:c.C6943T:p.R2315C,OTOG:NM_001292063:exon41:c.C6907T:p.R2303C	Deafness, autosomal recessive 18B, Autosomal recessive	14	1500	8	0	0	8	0.00265957	.	.	.	230142	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.339	0.0860967575219	.	0.000599042	0.0009	0	0.0070	0	0.0050	0.0006	0	0.0004	0.0002911	45	154602	rs568549806	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0010	0.0011	0.0011	0.0004	0.0009	3.971e-05	0	0.0028	0.0004	0.0012	0.0011	0.0004	0.0011	0.0011	0.0010	0.0011	0.0024	0.0009	0.0009	0.0017	0.0015	0.0002	0	0.0024	0	0.0002	0.0020	0	0.0013	0.0009	0.0006	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	0.006916	0.31720	N	0.279306	0.814851	0.34692	D	1.1	0.28011	L	-1.14	0.77843	T	-4.38	0.77143	D	0.27	0.34767	-0.1846	0.78064	T	0.377	0.73438	T	10	0.014726251	0.00309	T	0.086097	0.74668	D	0.339	0.66106	.	.	0.722628367933	0.72017	0.4242724342476483	0.42344	.	.	0.513382971287	0.40695	T	0.298186	0.67076	T	-0.282987	0.10354	T	-0.219801	0.52755	T	0.0477650295181255	0.05101	T	0.929607	0.73996	D	0.19819108	0.41713	0.17662154	0.40209	0.23356931	0.46163	0.18804988	0.42072	-8.866	0.66830	D	.	.	0.287	0.51959	B	.;.	.;.	4.831670	0.78802	27.0	0.99934917744021523	0.99579	0.25449	0.22702	N	AEFDBHCI	0.171800	0.29880	N	0.25986776934423	0.54129	3.57926	0.246614542634577	0.52458	3.420395	0.0561094863568954	0.15042	0.533608	0.22052	0	0.59043	0.45803	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	5.69	3.73	0.41982	0.559000	0.23190	1.827000	0.29086	0.599000	0.40250	0.793000	0.29632	0.999000	0.35428	0.994000	0.71098	0.0:0.6316:0.283:0.0854	7.831	0.28502	676	0.60355	Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	912.83	36	chr11	17631896	.	C	T	912.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.19;DP=258;ExcessHet=0;FS=1.977;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.692;SOR=0.489	GT:AD:DP:GQ:PL	0/1:40,32:72:99:923,0,995	5	0	1	0
chr11	46679387	46679387	A	G	exonic	ARHGAP1	.	nonsynonymous SNV	ARHGAP1:NM_004308:exon12:c.T1109C:p.F370S	.	.	.	.	.	.	.	.	.	.	.	3573255	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.0154253642114	.	.	.	.	.	.	.	.	.	.	.	.	.	rs947849528	2.531e-05	2.531e-05	2.178e-05	2.888e-05	0.0010	1.868e-05	1.631e-05	0.0005	0.0003	8.961e-05	0	0	0	0	0.0010	2.158e-05	6.623e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.008	0.67890	D	0.87	0.47827	P	0.434	0.45506	B	0.000012	0.62929	D	0.149414	0.999902	0.50806	D	1.59	0.40313	L	2.19	0.18724	T	-4.85	0.81107	D	0.624	0.63883	-1.1087	0.03183	T	0.067	0.27674	T	10	0.86507463	0.85747	D	0.015425	0.36156	T	0.268	0.58254	0.801	0.92017	0.417208245017	0.41340	0.5376796021757463	0.53692	1.06429463323	0.76581	0.490781217813	0.37547	T	0.331127	0.70124	T	0.0446889	0.57656	T	-0.173584	0.57115	T	0.974756956100464	0.70641	D	0.89751	0.64163	D	0.75814104	0.81344	0.7581516	0.85709	0.75814104	0.81345	0.7581516	0.85710	-9.417	0.70341	D	.	.	0.696	0.72778	P	.	.	4.792728	0.77791	26.8	0.99848649891550012	0.92838	0.94616	0.61748	D	AEFDGBCI	0.688583	0.64953	D	0.424689452842166	0.62782	4.500051	0.479362985206923	0.66624	4.97637	0.999966623410872	0.48965	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	4.119000	0.57638	9.273000	0.79652	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.706	0.77340	16	0.98727	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	.	.	.	.	.	.	.	.	0.08333	850.83	35	chr11	46679387	.	A	G	850.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.799;DP=266;ExcessHet=0;FS=5.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.514;SOR=1.418	GT:AD:DP:GQ:PL	0/1:48,33:81:99:861,0,1343	5	0	1	0
chr11	48264081	48264081	T	G	exonic	OR4X1	.	nonsynonymous SNV	OR4X1:NM_001004726:exon1:c.T221G:p.V74G	.	.	.	.	.	.	.	.	.	.	.	3577781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.00373320558787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021046330	5.473e-06	5.472e-06	8.168e-06	2.75e-06	0.0002	2.35e-06	1.7e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.497e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.444	0.35956	B	0.164	0.34953	B	.	.	.	.	0.697496	0.30134	N	2.615	0.76484	M	6.59	0.00519	T	-2.32	0.51478	N	0.398	0.43899	-1.1235	0.02121	T	0.003	0.01059	T	9	0.13852462	0.26344	T	0.003733	0.08651	T	0.170	0.43303	0.33	0.31519	0.305730143919	0.30178	0.09151627710108598	0.09084	0.00263683917289	0.00224	0.259321421385	0.04810	T	0.007945	0.07319	T	-0.0852366	0.38860	T	-0.360213	0.38028	T	0.216488048434258	0.21287	T	0.564644	0.19916	T	0.35110608	0.57153	0.35007322	0.60623	0.35110608	0.57153	0.35007322	0.60622	-7.483	0.57491	T	.	.	0.143	0.31431	B	.	.	1.595439	0.20400	14.73	0.97419192977934654	0.33865	0.23605	0.22130	N	AEFBI	0.141350	0.26350	N	-0.311819999571198	0.28697	1.585091	-0.418839836411941	0.24444	1.338588	2.04214025352896E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	1.98	0.25351	-0.749000	0.04918	.	.	0.556000	0.28261	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.0:0.1999:0.0:0.8	7.108	0.24551	120	0.95183	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	.	.	.	.	.	.	.	.	0.08333	3792.83	43	chr11	48264081	.	T	G	3792.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=371;ExcessHet=0;FS=0.529;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.86;ReadPosRankSum=-1.307;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,99:191:99:0|1:48264081_T_G:3803,0,3535:48264081	5	0	1	0
chr11	48264084	48264084	T	-	exonic	OR4X1	.	frameshift deletion	OR4X1:NM_001004726:exon1:c.224delT:p.M75Rfs*39	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399645021	5.473e-06	5.472e-06	8.168e-06	2.75e-06	0.0002	2.35e-06	1.7e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.497e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3789.79	43	chr11	48264083	.	AT	A	3789.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.13;DP=371;ExcessHet=0;FS=0.53;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.74;ReadPosRankSum=-1.035;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,99:192:99:0|1:48264081_T_G:3800,0,3570:48264081	5	0	1	0
chr11	55555024	55555024	C	T	exonic	OR4C15	.	nonsynonymous SNV	OR4C15:NM_001001920:exon1:c.C556T:p.L186F	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00497227437289	0.0032	0.00219649	0.0028	0.0005	0.0015	0	0.0003	0.0033	0.0011	0.0056	0.0026649	412	154602	rs141941152	0.0033	0.0033	0.0033	0.0033	0.0068	0.0032	0.0032	0.0064	0.0062	0.0005	0.0021	0.0056	2.52e-05	0.0002	0.0042	0.0034	0.0031	0.0068	0.0023	0.0023	0.0023	0.0024	0.0056	0.0021	0.0021	0.0040	0.0034	0.0008	0	0.0036	0.0061	0	0.0006	0	0.0031	0.0009	0.0056	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.910556	0.36400	D	3.645	0.94141	H	7.58	0.00361	T	-3.88	0.72710	D	0.195	0.21449	-1.1473	0.01108	T	0.004	0.01400	T	9	0.009649396	0.00217	T	0.004972	0.12535	T	0.145	0.38592	.	.	0.49376247819	0.49010	0.08598039010200839	0.08532	.	.	0.198243290186	0.00407	T	.	.	.	-0.365428	0.03832	T	-0.293963	0.45359	T	0.0673597931136631	0.08276	T	0.846115	0.52582	T	0.47709507	0.65724	0.6023043	0.76891	0.47709507	0.65724	0.6023043	0.76892	-9.264	0.69381	D	.	.	0.417	0.60485	A	.;.	.;.	3.613089	0.51089	23.0	0.99898192685848963	0.97048	0.60146	0.31113	D	AEFI	0.175023	0.30218	N	0.51769940833422	0.68135	5.175945	0.30694323378859	0.55947	3.757582	0.0136382903767271	0.12491	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	4.06	0.46572	-0.265000	0.08671	-1.838000	0.04634	0.438000	0.21043	0.000000	0.06391	0.000000	0.08366	0.670000	0.33251	0.1654:0.8346:0.0:0.0	12.645	0.56089	145	0.94217	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	0.007049	0.000000	0.008152	0.005848	0.000000	0.008621	0.009146	0.015152	0.08333	1364.83	34	chr11	55555024	.	C	T	1364.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.947;DP=356;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.034;SOR=0.669	GT:AD:DP:GQ:PL	0/1:107,63:170:99:1375,0,2834	5	0	1	0
chr11	55604252	55604252	A	G	exonic	OR4C11	.	nonsynonymous SNV	OR4C11:NM_001004700:exon1:c.T122C:p.M41T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000373090644452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.401e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.036	0.43393	D	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.524604	0.11704	N	0.684701	1	0.08975	N	-0.21	0.04010	N	7.47	0.00387	T	-2.48	0.54059	N	0.05	0.02179	-0.9577	0.39608	T	0.001	0.00255	T	10	0.18198794	0.33457	T	3.73E-4	0.00054	T	0.056	0.15993	0.563	0.68364	0.141422826196	0.13715	0.08068672182810592	0.08003	0.0028160100876	0.00241	0.191972911358	0.00262	T	0.008041	0.07400	T	-0.384828	0.02904	T	-0.790555	0.02150	T	0.0395767688751221	0.03613	T	0.510149	0.16261	T	0.11985463	0.28213	0.17084989	0.39225	0.11985463	0.28213	0.17084989	0.39224	-4.15	0.26024	T	.	.	0.095	0.17742	B	.;.	.;.	1.236833	0.16323	12.46	0.40109023771814639	0.02810	0.04968	0.10735	N	AEFI	0.038743	0.05526	N	-1.16530490698315	0.05533	0.2524769	-1.16331001594161	0.06532	0.3147234	1.69292837889302E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.34	1.65	0.23015	0.265000	0.18282	0.074000	0.14299	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7272:0.0:0.2728:0.0	6.455	0.21126	153	0.93993	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1114.75	33	chr11	55604252	.	A	G	1114.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.203;DP=243;ExcessHet=0;FS=1.657;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.318;SOR=0.941	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1124,0,1250	4	0	1	1
chr11	59578311	59578311	T	C	exonic	OSBP	.	nonsynonymous SNV	OSBP:NM_002556:exon12:c.A1898G:p.D633G	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.639	0.0580433243498	.	.	5.786e-05	9.612e-05	0	0	0	7.51e-05	0	6.152e-05	5.82e-05	9	154602	rs763784991	5.336e-05	5.336e-05	5.445e-05	5.225e-05	0.0003	4.344e-05	4.017e-05	0.0001	9.193e-05	2.987e-05	0.0002	0	0	0	0.0003	4.586e-05	0.0002	3.478e-05	7.882e-05	7.879e-05	5.137e-05	0.0001	0.0003	4.495e-05	3.511e-05	8.877e-05	5.386e-05	4.823e-05	0	0.0003	0	0	0	0	7.348e-05	0	0.0002	0.005	0.63226	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.475	0.71894	M	1.3	0.35590	T	-5.84	0.88431	D	0.929	0.93370	-0.4303	0.71057	T	0.273	0.64453	T	10	0.9194267	0.91298	D	0.058043	0.67180	D	0.639	0.86232	.	.	0.471862085557	0.46814	0.9624422852502884	0.96230	2.24847628594	0.96075	0.626802563667	0.56692	T	0.35752	0.72421	T	0.0412687	0.57211	T	0.0581717	0.74123	D	0.867699563503265	0.51770	D	0.979302	0.92791	D	0.7330276	0.79895	0.71565396	0.83218	0.7330276	0.79897	0.71565396	0.83219	-9.58	0.71356	D	.	.	0.440	0.61710	A	.	.	5.027686	0.83596	28.1	0.99847408967844953	0.92750	0.99278	0.93852	D	AEFBI	0.902443	0.85034	D	0.878772525147622	0.90680	10.51588	0.835374928801588	0.92132	11.25438	0.999999658839545	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	7.804000	0.84553	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.177	0.72607	424	0.81215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	4137.06	35	chr11	59578311	.	T	C	4137.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.35;DP=458;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.404;SOR=0.696	GT:AD:DP:GQ:PL	0/1:70,80:150:99:2064,0,1825	4	0	2	0
chr11	60201755	60201755	C	T	exonic	MS4A4E	.	nonsynonymous SNV	MS4A4E:NM_001351235:exon6:c.G403A:p.G135S	.	624	872	24	2	0	28	0.0158014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00449144199476	.	.	0	0	.	0	.	0	0	0	3.84e-05	1	26028	rs747864082	0.0008	0.0012	0.0005	0.0010	0.0011	0.0006	0.0006	0.0008	0.0007	0	0.0006	0.0011	0	0	0	0.0011	0.0012	0.0003	0.0001	0.0002	0.0001	0.0002	0.0002	8.678e-05	7.267e-05	7.882e-05	5.581e-05	0.0002	0	0	0.0003	0	0.0004	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	36.27	3	chr11	60201755	.	C	T	36.27	.	AC=2;AF=0.2;AN=10;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=31;QD=18.13;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	1
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	836.45	77	chr11	61740527	.	G	C	836.45	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.875;DP=464;ExcessHet=6.1542;FS=405.124;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.901;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,17:79:14:0|1:61740527_G_C:14,0,1712:61740527	1	0	5	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2249.55	76	chr11	61740531	.	T	C	2249.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.876;DP=490;ExcessHet=11.5949;FS=293.869;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.58;SOR=10.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,35:89:99:0|1:61740527_G_C:577,0,995:61740527	0	0	6	0
chr11	62678051	62678051	G	A	exonic	UBXN1	.	nonsynonymous SNV	UBXN1:NM_001286078:exon3:c.C181T:p.R61W,UBXN1:NM_001286077:exon5:c.C358T:p.R120W,UBXN1:NM_015853:exon5:c.C358T:p.R120W	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	7.7e-05	0.00279553	0.0012	0	0	0.0150	0	0.0001	0	0.0005	0.0010479	162	154602	rs117555780	0.0004	0.0004	0.0004	0.0004	0.0117	0.0004	0.0004	0.0109	0.0105	0	0	0	0.0117	0	0.0003	3.597e-05	0.0002	0.0005	0.0006	0.0006	0.0005	0.0007	0.0156	0.0005	0.0005	0.0129	0.0119	0	0	6.554e-05	0	0.0156	0	0	7.351e-05	0	0.0006	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.052299	0.999633	0.47961	D	3.07	0.87108	M	1.69	0.27032	T	-5.22	0.85027	D	0.634	0.64733	-0.9060	0.47332	T	0.086	0.33522	T	10	0.008662492	0.00196	T	.	.	.	0.271	0.58633	.	.	0.279809986126	0.27602	0.35753564639156343	0.35667	2.00016760847	0.93824	0.79307025671	0.80910	T	0.404526	0.76096	T	-0.279707	0.10698	T	-0.156303	0.58682	T	0.128321572366758	0.15226	T	0.973003	0.92760	D	0.70982635	0.78598	0.65843105	0.79994	0.70982635	0.78599	0.65843105	0.79995	-9.934	0.73516	D	.	.	0.387	0.65519	A	.;.;.;.;.	.;.;.;.;.	5.091136	0.85017	28.5	0.99913687808108997	0.98238	0.75491	0.36964	D	AEFDBCI	.	.	.	0.534633128316703	0.69154	5.31667	0.475574628489934	0.66374	4.943943	0.999994852790271	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.1	4.17	0.48303	1.558000	0.35917	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.839:0.161	13.211	0.59248	405	0.82444	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4021.06	40	chr11	62678051	.	G	A	4021.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.04;DP=453;ExcessHet=0.4139;FS=1.976;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.5;SOR=0.577	GT:AD:DP:GQ:PL	0/1:62,74:136:99:1825,0,1572	4	0	2	0
chr11	62910311	62910311	G	A	exonic	CHRM1	.	nonsynonymous SNV	CHRM1:NM_000738:exon2:c.C790T:p.R264W	.	401	1120	1	0	0	1	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0152911730628	.	.	0.0001	0	0	0.0001	0	0.0001	0	0.0002	9.06e-05	14	154602	rs781487671	5.346e-05	5.336e-05	4.228e-05	6.474e-05	0.0005	4.352e-05	4.025e-05	0.0001	0.0001	0.0001	0	0	2.519e-05	0	0.0005	4.497e-05	1.657e-05	0.0002	3.945e-05	3.94e-05	5.141e-05	2.693e-05	0.0002	1.716e-05	1.13e-05	1.171e-05	6.25e-06	4.83e-05	0	0	0	0	0	0	4.412e-05	0	0.0002	0.029	0.46513	D	0.036	0.52060	D	0.001	0.07471	B	0.0	0.01387	B	0.136479	0.18446	N	0.429938	0.98072	0.25091	N	1.775	0.45938	L	0.21	0.60361	T	-0.73	0.20576	N	0.132	0.12770	-0.9526	0.40520	T	0.131	0.44268	T	10	0.10382229	0.19108	T	0.015291	0.35936	T	0.056	0.15993	.	.	0.457822240193	0.45404	0.7070118361765791	0.70643	0.912470087647	0.71115	0.853696346283	0.90171	D	0.468362	0.80232	T	-0.335856	0.05680	T	-0.440776	0.28721	T	0.0294728133780554	0.01909	T	0.80302	0.45008	T	0.063606076	0.13410	0.042263392	0.04993	0.063606076	0.13409	0.042263392	0.04993	-5.099	0.38274	T	.	.	0.166	0.36928	B	.;.	.;.	2.254424	0.28799	17.92	0.96884140168052102	0.31473	0.16282	0.19316	N	AEFDGBI	0.208716	0.33477	N	-0.676021912614472	0.16707	0.8535114	-0.630490998545798	0.18712	1.000785	0.999999077001978	0.74766	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.72	0.212	0.14516	-0.003000	0.12836	.	.	-0.126000	0.13398	0.000000	0.06391	1.000000	0.68203	0.958000	0.51230	0.0914:0.0:0.4721:0.4365	6.667	0.22235	804	0.43891	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	.	.	.	.	.	.	.	.	0.1667	2024.06	33	chr11	62910311	.	G	A	2024.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.41;DP=303;ExcessHet=0.4139;FS=3.24;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.308;SOR=0.45	GT:AD:DP:GQ:PL	0/1:34,32:66:99:877,0,861	4	0	2	0
chr11	65780185	65780203	GCAGTGGTGGCCGCCAGCA	-	exonic	AP5B1	.	frameshift deletion	AP5B1:NM_138368:exon2:c.290_308del:p.L97Pfs*55	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386329563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	727.03	36	chr11	65780184	.	GGCAGTGGTGGCCGCCAGCA	G	727.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.574;DP=120;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.13;ReadPosRankSum=1.24;SOR=0.904	GT:AD:DP:GQ:PL	0/1:10,11:21:99:432,0,387	4	0	2	0
chr11	66592558	66592558	C	G	exonic	CCDC87	.	nonsynonymous SNV	CCDC87:NM_018219:exon1:c.G458C:p.R153P	.	.	.	.	.	.	.	.	.	.	.	3641292	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.541	0.0457710255806	7.7e-05	.	4.973e-05	0	0.0003	0	0	3.023e-05	0	0	3.88e-05	6	154602	rs150149433	4.587e-05	4.583e-05	4.632e-05	4.541e-05	8.944e-05	3.664e-05	3.35e-05	4.178e-05	3.825e-05	0	8.944e-05	0	0	0	0	5.306e-05	3.312e-05	2.319e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000404	0.44736	D	0.000000	0.940561	0.37302	D	2.08	0.57402	M	-0.35	0.68616	T	-4.95	0.81910	D	0.82	0.81559	0.045	0.83149	D	0.469	0.79513	T	10	0.8662348	0.85868	D	0.045771	0.62143	D	0.541	0.80842	.	.	0.74304523599	0.74073	0.7991811219608808	0.79871	0.74609002233	0.63525	0.468451350927	0.34467	T	0.218761	0.58158	T	0.134702	0.67817	D	0.181415	0.82076	D	0.862407445907593	0.51271	D	0.664234	0.27311	T	0.85381675	0.87618	0.77900386	0.86968	0.85381675	0.87620	0.77900386	0.86969	-4.102	0.25320	T	.	.	0.937	0.85657	P	.	.	4.518581	0.70831	25.6	0.99574161269324457	0.72561	0.85545	0.44688	D	AEFGBCI	0.654494	0.62716	D	0.572954294470099	0.71488	5.658828	0.47117427625024	0.66089	4.906728	0.999999987695279	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.239995	0.05000	1	0.638787	0.57140	0	.	.	5.11	5.11	0.69188	2.522000	0.45232	3.864000	0.40152	0.599000	0.40250	0.976000	0.34826	0.999000	0.35428	0.059000	0.15899	0.0:1.0:0.0:0.0	13.897	0.63282	61	0.97388	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1715.83	38	chr11	66592558	.	C	G	1715.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.242;DP=358;ExcessHet=0;FS=0.607;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.604;SOR=0.75	GT:AD:DP:GQ:PL	0/1:73,75:148:99:1726,0,1851	5	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	287.99	62	chr11	66863811	.	C	T	287.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-2.923;DP=389;ExcessHet=0.4139;FS=178.811;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=1.15;SOR=8.497	GT:AD:DP:GQ:PL	0/1:65,33:98:99:218,0,1105	1	0	2	3
chr11	67664499	67664499	G	A	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon8:c.C770T:p.P257L,ALDH3B2:NM_001354345:exon9:c.C770T:p.P257L	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	.	0.0018	0.00279553	0.0026	0.0004	0.0010	0	0	0.0026	0.0022	0.0076	0.0023738	367	154602	rs150084712	0.0025	0.0025	0.0023	0.0027	0.0072	0.0024	0.0024	0.0068	0.0066	0.0004	0.0007	0.0085	2.519e-05	1.872e-05	0.0063	0.0023	0.0026	0.0072	0.0019	0.0019	0.0017	0.0021	0.0104	0.0017	0.0016	0.0081	0.0073	0.0004	0	0.0012	0.0098	0	0	0	0.0023	0.0014	0.0104	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.545	0.99110	H	-3.69	0.95317	D	-9.7	0.98602	D	0.989	0.99670	1.091	0.99295	D	0.957	0.98615	D	10	0.12536263	0.23821	T	.	.	.	0.928	0.98267	.	.	0.976308020779	0.97605	0.9449000254571344	0.94472	0.777711585674	0.65120	0.622250556946	0.56047	T	0.494025	0.81734	T	0.213359	0.75148	D	0.538826	0.95405	D	0.230741646468653	0.21987	T	0.992251	0.97542	D	0.9802403	0.99128	0.9513399	0.98480	0.9802403	0.99128	0.9513399	0.98480	-10.231	0.75283	D	.	.	0.466	0.62985	A	.;.	.;.	5.238448	0.87935	29.4	0.99897445217261727	0.96971	0.99222	0.93031	D	AEFDBI	0.873197	0.79542	D	0.986518143290859	0.95316	13.50433	0.839598244448149	0.92395	11.40123	0.9999999998381	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	9.833000	0.98330	11.147000	0.87239	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	16.108	0.81049	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.004076	0.029240	0.000000	0.008621	0.012195	0.000000	0.1667	3760.06	33	chr11	67664499	.	G	A	3760.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.33;DP=496;ExcessHet=0.4139;FS=1.29;MLEAC=2;MLEAF=0.167;MQ=59.91;MQRankSum=0;QD=11.19;ReadPosRankSum=0.555;SOR=0.617	GT:AD:DP:GQ:PL	0/1:87,73:160:99:1730,0,2286	4	0	2	0
chr11	71582755	71582755	C	0	exonic	KRTAP5-11	.	.	.	.	435	1026	56	4	1	65	0.0302457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2432.45	38	chr11	71582755	.	C	*	2432.45	.	AC=3;AF=0.25;AN=12;DP=709;ExcessHet=0.7136;FS=4.23;MLEAC=3;MLEAF=0.25;MQ=59.82;QD=5.95;SOR=0.463	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1742,0,2265	3	0	3	0
chr11	78658413	78658413	A	G	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon34:c.T7955C:p.I2652T	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.0516012032973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.297	0.20551	T	0.501	0.37169	P	0.058	0.26451	B	0.000026	0.55875	N	0.119994	0.970165	0.38779	D	1.5	0.37844	L	-2.5	0.89219	D	-0.6	0.17834	N	0.106	0.09066	-0.2755	0.75662	T	0.454	0.78709	T	9	0.119888246	0.22698	T	0.051601	0.64730	D	0.279	0.59619	0.694	0.83126	0.110392049598	0.10638	0.38789296920661737	0.38704	0.352013665624	0.37038	0.689756691456	0.65671	T	0.094253	0.39379	T	-0.00710966	0.50668	T	-0.247989	0.50014	T	0.908971130847931	0.56373	D	0.840116	0.51512	T	0.10432148	0.24660	0.104492694	0.25098	0.10432148	0.24660	0.104492694	0.25097	-4.194	0.26665	T	0.12574580119496806	0.12567	0.306	0.53487	B	.	.	2.540064	0.32855	19.17	0.38074288237269294	0.02547	0.90784	0.52254	D	AEFDBI	0.497708	0.53212	N	0.00792381080437241	0.42216	2.539384	0.143081232903301	0.46777	2.918172	0.954372008485592	0.28128	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	4.52	0.54797	3.893000	0.55955	6.203000	0.54917	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9306:0.0:0.0694:0.0	11.517	0.49777	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	6713.06	36	chr11	78658413	.	A	G	6713.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.33;DP=665;ExcessHet=0.4139;FS=1.095;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.021;SOR=0.8	GT:AD:DP:GQ:PL	0/1:139,126:265:99:3230,0,3570	4	0	2	0
chr11	83285959	83285959	T	C	exonic	CCDC90B	.	nonsynonymous SNV	CCDC90B:NM_021825:exon1:c.A14G:p.Q5R	.	428	1073	20	1	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0065	0.00179712	0.0086	0.0017	0.0041	0	0.0261	0.0108	0.0106	0.0062	0.0064747	1001	154602	rs144749516	0.0072	0.0072	0.0073	0.0072	0.0106	0.0071	0.0071	0.0085	0.0077	0.0009	0.0031	0.0260	5.05e-05	0.0171	0.0106	0.0071	0.0078	0.0052	0.0061	0.0061	0.0056	0.0067	0.0073	0.0058	0.0057	0.0068	0.0066	0.0013	0	0.0024	0.0311	0.0002	0.0176	0.0068	0.0073	0.0052	0.0070	0.944	0.02767	T	0.515	0.11115	T	0.0	0.02946	B	0.0	0.01387	B	0.293906	0.03912	N	1.404180	0.86284	0.35419	D	-0.345	0.03330	N	1.6	0.29866	T	0.01	0.07736	N	0.055	0.04188	-1.0374	0.18109	T	0.028	0.12058	T	9	0.0029465258	0.00048	T	.	.	.	0.099	0.28413	.	.	0.149567049428	0.14543	0.21662631799472365	0.21578	0.0230896794622	0.02335	0.306394517422	0.11363	T	0.003364	0.02768	T	-0.527411	0.00398	T	-0.519335	0.20361	T	0.00392486475086559	0.00042	T	0.29547	0.05467	T	0.0334613	0.03570	0.060188286	0.11420	0.0334613	0.03570	0.060188286	0.11419	-3.808	0.20924	T	.	.	0.054	0.01408	B	.;.	.;.	0.263676	0.06420	2.889	0.60334667938948594	0.06438	0.00218	0.01233	N	ALL	0.038003	0.05312	N	-1.06331832002294	0.07328	0.3400958	-0.974073503520917	0.10369	0.5218358	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	4.37	0.51830	1.240000	0.32334	0.117000	0.14863	-1.073000	0.01588	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.9064:0.0:0.0936	10.200	0.42252	630	0.65016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007591	0.000000	0.008152	0.017544	0.100000	0.000000	0.009259	0.003788	0.08333	1286.83	35	chr11	83285959	.	T	C	1286.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.915;DP=304;ExcessHet=0;FS=3.36;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.289;SOR=0.778	GT:AD:DP:GQ:PL	0/1:60,57:117:99:1297,0,1480	5	0	1	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.060317	0.046667	0.130952	0.086420	0.000000	0.000000	0.047945	0.121622	0.08333	1146.83	35	chr11	94528131	.	G	A	1146.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.446;DP=301;ExcessHet=0;FS=2.471;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.821;SOR=0.989	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1157,0,1483	5	0	1	0
chr11	94589192	94589192	G	A	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon8:c.G986A:p.R329Q	.	434	1047	38	3	0	44	0.02058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00244002209194	0.0021	0.00279553	0.0031	0.0009	0.0018	0.0003	0.0003	0.0033	0.0022	0.0072	0.0028266	437	154602	rs149372122	0.0023	0.0023	0.0021	0.0025	0.0302	0.0023	0.0022	0.0265	0.0251	0.0015	0.0021	0.0179	0.0003	0.0001	0.0302	0.0016	0.0049	0.0065	0.0022	0.0022	0.0021	0.0023	0.0075	0.0020	0.0019	0.0056	0.0049	0.0006	0	0.0031	0.0193	0.0004	0.0002	0.0170	0.0020	0.0066	0.0075	0.291	0.14945	T	0.539	0.09795	T	0.104	0.25941	B	0.041	0.23986	B	0.008016	0.31069	N	0.221517	0.971075	0.25672	N	2.335	0.66956	M	2.53	0.14038	T	-0.9	0.24244	N	0.103	0.08646	-1.0311	0.20099	T	0.017	0.06855	T	10	0.005399823	0.00119	T	0.00244	0.04813	T	0.013	0.01715	.	.	0.39694197178	0.39312	0.18378899712524147	0.18297	0.376133211831	0.39054	0.261308073997	0.05048	T	0.019712	0.15652	T	-0.605849	0.00134	T	-0.639869	0.09678	T	0.0138040315181403	0.00261	T	0.838616	0.51177	T	0.15862426	0.35676	0.17096731	0.39245	0.15862426	0.35676	0.17096731	0.39245	-6.037	0.46588	T	.	.	0.089	0.12084	B	.	.	2.953575	0.39306	20.9	0.9918277867257318	0.54730	0.71900	0.35215	D	AEFBI	0.103335	0.20706	N	-0.26063306178762	0.30680	1.713019	-0.121544618188335	0.34523	1.986769	0.00824028543392635	0.11637	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.96	2.99	0.33673	1.442000	0.34656	2.413000	0.32651	0.676000	0.76740	0.998000	0.41325	0.939000	0.28734	0.997000	0.79791	0.2858:0.0:0.7142:0.0	7.358	0.25902	793	0.45818	PAZ domain|PAZ domain|PAZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.005051	0.021739	0.032164	0.000000	0.051724	0.024390	0.022727	0.08333	1274.83	33	chr11	94589192	.	G	A	1274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.29;DP=297;ExcessHet=0;FS=1.41;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.452;SOR=0.785	GT:AD:DP:GQ:PL	0/1:75,53:128:99:1285,0,1768	5	0	1	0
chr11	102527598	102527598	C	T	exonic	MMP7	.	nonsynonymous SNV	MMP7:NM_002423:exon3:c.G410A:p.G137D	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0004	0.0217652	0.0083	0.0005	0.0010	0.1019	0.0003	0.0002	0.0044	0.0053	0.0077683	1201	154602	rs17884789	0.0035	0.0035	0.0034	0.0036	0.1014	0.0034	0.0034	0.0988	0.0977	0.0002	0.0004	0.0013	0.1014	0.0001	0.0016	0.0001	0.0065	0.0055	0.0042	0.0042	0.0036	0.0047	0.0999	0.0039	0.0038	0.0928	0.0900	0.0005	0	0.0009	0.0029	0.0999	0	0	0.0001	0.0038	0.0118	0.002	0.72154	D	0.022	0.57587	D	0.755	0.43381	P	0.29	0.40682	B	0.000574	0.43250	D	0.100673	0.617968	0.30804	N	0.895	0.22405	L	0.76	0.49919	T	-0.05	0.07736	N	0.356	0.39760	-1.1095	0.03113	T	0.003	0.01026	T	10	0.00285694	0.00046	T	.	.	.	0.084	0.24469	.	.	0.781328695101	0.77931	0.5552612333564311	0.55453	0.0936467144029	0.10581	0.404724001884	0.25725	T	0.055526	0.30031	T	-0.469537	0.00856	T	-0.360381	0.38009	T	0.0431197826253554	0.04260	T	0.430157	0.11673	T	0.73265904	0.79874	0.3842117	0.63367	0.73265904	0.79876	0.3842117	0.63367	-6.016	0.46414	T	.	.	0.31	0.53762	B	.	.	3.692235	0.52612	23.3	0.99815279847645877	0.89885	0.92850	0.56698	D	AEFBI	0.595918	0.59028	D	0.114261674018122	0.47127	2.942852	0.203255010471569	0.50028	3.199187	0.990605104962491	0.32208	0.643511	0.44296	0	0.588066	0.40923	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	4.85	4.85	0.62375	2.921000	0.48549	4.001000	0.41074	0.599000	0.40250	0.993000	0.37899	0.999000	0.35428	0.692000	0.33898	0.0:1.0:0.0:0.0	17.960	0.89003	759	0.50631	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, 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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	1220.83	41	chr11	102527598	.	C	T	1220.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.444;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.535;SOR=0.693	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1231,0,1109	5	0	1	0
chr11	102721650	102721650	C	A	exonic	MMP8	.	stopgain	MMP8:NM_002424:exon3:c.G460T:p.G154X,MMP8:NM_001304441:exon4:c.G391T:p.G131X,MMP8:NM_001304442:exon4:c.G391T:p.G131X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.000599042	0.0003	0	0	0.0030	0	0	0	0.0003	0.0002199	34	154602	rs199670970	9.716e-05	9.713e-05	8.714e-05	0.0001	0.0029	8.378e-05	7.917e-05	0.0024	0.0023	0	0	0	0.0029	0	0	1.799e-06	0.0001	0.0002	9.195e-05	9.843e-05	5.14e-05	0.0001	0.0013	5.525e-05	4.363e-05	0.0006	0.0004	0	0	6.543e-05	0	0.0013	0	0	0	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.354182	0.13769	N	0.671285	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.668	0.67650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0475077	0.58021	T	0.291787	0.87782	D	0.253971532981789	0.23050	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.580398	0.92297	32	0.9860791459181093	0.43598	0.34615	0.25109	N	AEFGBHCI	0.120755	0.23509	N	0.314519137930706	0.56894	3.854882	-0.018701929632485	0.38871	2.296371	0.0135816936597748	0.12484	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	2.68	0.30839	0.117000	0.15414	-0.662000	0.07976	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.0:0.6549:0.0:0.3451	9.373	0.37428	707	0.57054	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1985.83	46	chr11	102721650	.	C	A	1985.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.307;DP=349;ExcessHet=0;FS=1.346;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.8;SOR=0.862	GT:AD:DP:GQ:PL	0/1:63,82:145:99:1996,0,1603	5	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	446.8	129	chr11	106010659	.	C	T	446.8	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.161;DP=813;ExcessHet=1.383;FS=238.988;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=1.99;SOR=9.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,28:135:99:0|1:106010659_C_T:101,0,3237:106010659	2	0	3	1
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	756.44	129	chr11	106010660	.	C	G	756.44	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-3.078;DP=816;ExcessHet=3.1439;FS=243.716;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.98;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,28:135:99:0|1:106010659_C_T:101,0,3237:106010659	1	0	4	1
chr11	108482164	108482164	C	T	exonic	POGLUT3	.	nonsynonymous SNV	POGLUT3:NM_001363503:exon4:c.G743A:p.R248Q,POGLUT3:NM_153705:exon4:c.G743A:p.R248Q	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0037	0.00139776	0.0038	0.0009	8.646e-05	0	0.0077	0.0053	0.0056	0.0026	0.0037774	584	154602	rs186063712	0.0045	0.0045	0.0045	0.0045	0.0049	0.0044	0.0044	0.0048	0.0048	0.0006	0.0003	0.0067	0	0.0083	0.0010	0.0049	0.0035	0.0027	0.0035	0.0035	0.0034	0.0036	0.0054	0.0032	0.0031	0.0050	0.0048	0.0006	0	0.0001	0.0061	0	0.0082	0	0.0054	0.0028	0.0033	0.088	0.32296	T	0.166	0.31225	T	0.806	0.45231	P	0.168	0.35187	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.98	0.21865	T	-1.8	0.42384	N	0.612	0.62866	-1.0978	0.04367	T	0.047	0.20116	T	10	0.006697327	0.00152	T	.	.	.	0.119	0.33137	.	.	0.330589388543	0.32661	0.7326316064024624	0.73208	0.759004592836	0.64143	0.3074670434	0.11525	T	0.008436	0.07749	T	-0.295377	0.09102	T	-0.19292	0.55316	T	0.0369718364538798	0.03151	T	0.848615	0.53011	T	0.4207075	0.62139	0.31173235	0.57179	0.4207075	0.62139	0.31173235	0.57178	-9.151	0.68664	D	.	.	0.094	0.16143	B	.;.	.;.	4.086770	0.60831	24.3	0.99934380038121418	0.99535	0.95489	0.64924	D	AEFBI	0.642920	0.61972	D	0.351084018428282	0.58796	4.054221	0.427423632869112	0.63278	4.558581	0.999696438630859	0.41870	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.31	4.37	0.51830	3.444000	0.52678	2.465000	0.32872	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9287:0.0:0.0713	14.595	0.67993	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.1667	1061.06	35	chr11	108482164	.	C	T	1061.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.77;DP=248;ExcessHet=0.4139;FS=0.744;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.621;SOR=0.777	GT:AD:DP:GQ:PL	0/1:35,20:55:99:449,0,884	4	0	2	0
chr11	112028585	112028585	C	T	exonic	DLAT	.	nonsynonymous SNV	DLAT:NM_001372031:exon3:c.C452T:p.A151V,DLAT:NM_001372032:exon3:c.C452T:p.A151V,DLAT:NM_001372033:exon3:c.C452T:p.A151V,DLAT:NM_001372034:exon3:c.C419T:p.A140V,DLAT:NM_001372035:exon3:c.C452T:p.A151V,DLAT:NM_001372036:exon3:c.C326T:p.A109V,DLAT:NM_001372037:exon3:c.C284T:p.A95V,DLAT:NM_001372039:exon3:c.C452T:p.A151V,DLAT:NM_001372041:exon3:c.C452T:p.A151V,DLAT:NM_001931:exon3:c.C452T:p.A151V	Pyruvate dehydrogenase E2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0887931950327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.015	0.61642	D	0.372	0.56013	B	0.312	0.63157	B	0.004742	0.33426	N	0.348460	0.903954	0.81001	D	2.285	0.65182	M	0.37	0.57729	T	-0.87	0.36385	N	0.42	0.50778	-0.3813	0.72611	T	0.312	0.68229	T	10	0.36940417	0.53356	T	0.088793	0.75201	D	0.229	0.52916	0.418	0.45873	0.679913390818	0.67719	0.34472874959310035	0.34385	0.664077401662	0.59052	0.488060832024	0.37170	T	0.160514	0.50439	T	-0.0659416	0.41974	T	-0.332497	0.41190	T	0.957216501235962	0.64953	D	0.965603	0.87267	D	0.1269211	0.29715	0.0925788	0.21825	0.1269211	0.29715	0.0925788	0.21824	-8.675	0.65583	D	.	.	0.142	0.46025	B	.;.	.;.	4.434338	0.68789	25.3	0.99874719420651092	0.95160	0.98419	0.82582	D	AEFDBI	0.838514	0.75603	D	0.321779671850602	0.57267	3.893518	0.342407219782394	0.58053	3.973599	0.999999999885122	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.75	0.59954	7.477000	0.80071	5.977000	0.52101	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.999000	0.91618	0.0:0.9297:0.0:0.0703	14.490	0.67226	594	0.68584	Biotin/lipoyl attachment|Biotin/lipoyl attachment;Biotin/lipoyl attachment|Biotin/lipoyl attachment	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2274.06	34	chr11	112028585	.	C	T	2274.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.192;DP=361;ExcessHet=0.4139;FS=2.324;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.57;SOR=0.535	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1060,0,1070	4	0	2	0
chr11	113412715	113412715	T	C	exonic	DRD2	.	nonsynonymous SNV	DRD2:NM_016574:exon6:c.A892G:p.K298E,DRD2:NM_000795:exon7:c.A979G:p.K327E	.	0	1515	7	0	0	7	0.00230491	.	.	.	241055	Dystonic_disorder|not_provided	Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.212	.	0.0025	0.00279553	0.0038	0.0005	0.0005	0	0.0222	0.0039	0.0099	0.0024	0.0034799	538	154602	rs71653614	0.0031	0.0031	0.0030	0.0031	0.0027	0.0030	0.0030	0.0026	0.0026	0.0004	0.0005	0.0004	0	0.0207	0.0007	0.0027	0.0028	0.0023	0.0036	0.0035	0.0029	0.0043	0.0039	0.0033	0.0032	0.0035	0.0034	0.0007	0	0.0004	0.0006	0.0002	0.0205	0.0034	0.0039	0.0033	0.0025	0.312	0.29158	T	0.713	0.09795	T	0.007	0.18235	B	0.011	0.21540	B	0.000000	0.84330	D	0.081650	0.999997	0.58761	D	1.445	0.36358	L	-0.67	0.72458	T	-0.57	0.24898	N	0.487	0.53181	-0.8557	0.51570	T	0.165	0.50209	T	10	0.006436944	0.00146	T	.	.	.	0.212	0.50341	.	.	0.83841986829	0.83687	0.4838085822904552	0.48300	1.27943491311	0.82487	0.639596939087	0.58507	T	0.109656	0.42371	T	-0.260005	0.12899	T	-0.140988	0.60032	T	0.0501452647467594	0.05525	T	0.856214	0.56597	D	0.29855898	0.52775	0.374772	0.62636	0.29855898	0.52775	0.374772	0.62635	-4.51	0.35396	T	.	.	0.132	0.36732	B	.;.;.;.;.	.;.;.;.;.	3.459078	0.48208	22.6	0.99723632802450846	0.82266	0.98484	0.83265	D	AEFBI	0.942577	0.94733	D	-0.00477627300684651	0.41639	2.494186	0.231205104956738	0.51588	3.339955	0.999999998100973	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	8.017000	0.88732	7.876000	0.72232	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	16.450	0.83825	860	0.33753	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.1667	3185.06	34	chr11	113412715	.	T	C	3185.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.73;DP=371;ExcessHet=0.4139;FS=13.769;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.146;SOR=1.433	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1552,0,1407	4	0	2	0
chr11	113932386	113932386	A	C	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon4:c.A433C:p.S145R,HTR3B:NM_006028:exon5:c.A466C:p.S156R	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0250066252546	0.0055	0.00179712	0.0041	0.0005	0.0034	0.0001	0.0018	0.0058	0.0033	0.0032	0.0040814	631	154602	rs72466469	0.0049	0.0049	0.0048	0.0050	0.0068	0.0048	0.0048	0.0052	0.0052	0.0007	0.0038	0.0143	0.0001	0.0013	0.0068	0.0053	0.0055	0.0031	0.0040	0.0040	0.0044	0.0036	0.0063	0.0038	0.0037	0.0058	0.0056	0.0009	0	0.0041	0.0121	0	0.0013	0	0.0063	0.0061	0.0035	0.004	0.65419	D	0.084	0.41742	T	0.934	0.58077	P	0.643	0.61279	P	0.012047	0.29308	N	0.421195	0.527966	0.31951	D	1.595	0.40691	L	-1.28	0.79376	T	-2.34	0.51811	N	0.387	0.42834	-0.2710	0.75785	T	0.383	0.73943	T	10	0.01663372	0.00351	T	0.025007	0.47992	D	0.264	0.57741	0.21	0.12781	0.757769487402	0.75556	0.42280760931178624	0.42197	0.25041078572	0.27610	0.319523781538	0.13349	T	0.152105	0.49235	T	-0.315207	0.07298	T	-0.223215	0.52425	T	0.0488645287089559	0.05299	T	0.809719	0.47040	T	0.3483172	0.56935	0.29076025	0.55100	0.3483172	0.56936	0.29076025	0.55099	-3.717	0.19569	T	.	.	0.150	0.33086	B	.;.	.;.	1.647686	0.21022	15.02	0.99737840350303608	0.83264	0.36996	0.25661	N	AEFBI	0.232044	0.35518	N	-0.317441561955011	0.28486	1.57156	-0.43329920996704	0.24026	1.313442	7.90171590104167E-4	0.07810	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.82	0.729	0.17416	1.081000	0.30402	1.366000	0.25918	-0.208000	0.08445	0.291000	0.25242	0.078000	0.22336	0.445000	0.27784	0.6577:0.0:0.2158:0.1265	4.941	0.13316	864	0.32732	Neurotransmitter-gated ion-channel ligand-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	0.008560	0.000000	0.013587	0.002924	0.000000	0.008621	0.015244	0.003788	0.1667	2265.06	36	chr11	113932386	.	A	C	2265.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.174;DP=357;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.876;SOR=0.732	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1203,0,1243	4	0	2	0
chr11	116873495	116873495	C	T	exonic	SIK3	.	nonsynonymous SNV	SIK3:NM_001281749:exon12:c.G1579A:p.V527I,SIK3:NM_001366686:exon13:c.G1723A:p.V575I,SIK3:NM_025164:exon13:c.G1723A:p.V575I,SIK3:NM_001281748:exon14:c.G1246A:p.V416I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0208737108328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.50676	D	0.251	0.23638	T	.	.	.	.	.	.	0.002137	0.37183	U	0.000000	1	0.81001	D	.	.	.	-0.59	0.71543	T	-0.56	0.17003	N	0.605	0.62696	-0.1566	0.78754	T	0.466	0.79389	T	10	0.52754855	0.62996	D	0.020874	0.43546	T	0.236	0.53931	.	.	0.483636461449	0.47994	0.19405906281004623	0.19323	.	.	0.718300104141	0.69799	T	.	.	.	-0.0194792	0.48927	T	-0.265757	0.48248	T	0.765236657019517	0.44156	D	0.937706	0.77081	D	0.058621045	0.11815	0.06616715	0.13517	0.058621045	0.11814	0.06616715	0.13516	-3.396	0.19274	T	.	.	0.232	0.46516	B	.;.	.;.	4.843301	0.79091	27.0	0.99898895181073477	0.97124	0.99608	0.97942	D	AEFDBIJ	0.834348	0.75241	D	0.725464003348847	0.81301	7.490365	0.752031520102046	0.86308	8.847939	0.999999999999998	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	7.246000	0.77688	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.893	0.96936	487	0.76954	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	1180.06	35	chr11	116873495	.	C	T	1180.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.022;DP=249;ExcessHet=0.4139;FS=3.631;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.464;SOR=1.055	GT:AD:DP:GQ:PL	0/1:32,25:57:99:576,0,871	4	0	2	0
chr11	121145567	121145567	C	T	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon12:c.C3556T:p.R1186W,TBCEL-TECTA:NM_001378761:exon18:c.C4513T:p.R1505W	.	0	1520	1	1	0	3	0.000985869	.	.	.	318882	Autosomal_dominant_nonsyndromic_hearing_loss_12|TECTA-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_21	MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|.|MedGen:C3661900|MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.352	0.0857344375054	0.0003	0.00179712	0.0009	0	0.0002	0.0005	0	7.492e-05	0	0.0058	0.0007827	121	154602	rs148098950	0.0005	0.0005	0.0004	0.0007	0.0057	0.0005	0.0005	0.0053	0.0051	8.961e-05	0.0002	0	0.0002	0	0.0010	0.0002	0.0006	0.0057	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0047	0.0040	0.0001	0	0.0007	0	0.0006	0	0	0.0001	0	0.0064	0.011	0.55530	D	0.0	0.92824	D	0.999	0.77913	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	0.999746	0.48716	D	1.585	0.39878	L	0.18	0.60361	T	-2.46	0.53736	N	0.871	0.86833	-0.4790	0.69403	T	0.314	0.68424	T	10	0.0098540485	0.00221	T	0.085734	0.74592	D	0.352	0.67326	.	.	0.847631421277	0.84616	0.7341693214237388	0.73361	1.05113681247	0.76148	0.732054233551	0.71807	T	0.297435	0.67003	T	-0.0749782	0.40528	T	0.121857	0.78359	D	0.154764115743218	0.17476	T	0.965803	0.87368	D	0.43300048	0.62948	0.43418798	0.66947	0.46722206	0.65120	0.48998272	0.70493	-6.788	0.52470	T	0.2611662731153489	0.35261	0.712	0.78526	P	.;.;.	.;.;.	4.606355	0.72999	25.9	0.99918054428031255	0.98518	0.94445	0.61189	D	AEFDGBI	0.692640	0.65224	D	0.508790843477593	0.67608	5.104366	0.486460838566011	0.67094	5.037986	0.992833245878254	0.32986	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.87	4.95	0.64894	4.074000	0.57297	2.657000	0.33854	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.885000	0.42453	0.2643:0.7357:0.0:0.0	14.691	0.68694	768	0.49510	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D 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	.	.	.	.	.	.	.	.	0.1667	1941.06	34	chr11	121145567	.	C	T	1941.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.4;DP=334;ExcessHet=0.4139;FS=10.467;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.43;SOR=1.363	GT:AD:DP:GQ:PL	0/1:58,38:96:99:1039,0,1350	4	0	2	0
chr11	124310747	124310747	G	T	exonic	OR8D1	.	nonsynonymous SNV	OR8D1:NM_001002917:exon1:c.C20A:p.S7Y	.	0	225	1	0	0	1	0.00221729	.	.	.	2809972	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.156	.	0.0032	0.00239617	0.0051	0.0012	0.0010	0.0001	0.0146	0.0068	0.0034	0.0016	0.0046701	722	154602	rs138336307	0.0051	0.0051	0.0052	0.0050	0.0055	0.0050	0.0050	0.0054	0.0054	0.0007	0.0012	0.0001	5.051e-05	0.0151	0.0026	0.0055	0.0045	0.0018	0.0036	0.0036	0.0034	0.0038	0.0050	0.0033	0.0032	0.0045	0.0044	0.0009	0	0.0009	0	0	0.0127	0.0034	0.0050	0.0038	0.0025	0.005	0.63226	D	0.0	0.92824	D	0.994	0.66517	D	0.949	0.68658	D	0.002408	0.36612	U	0.000000	1	0.08975	N	2.8	0.81625	M	0.57	0.54347	T	-4.8	0.80682	D	0.252	0.28498	-0.6657	0.62023	T	0.280	0.65170	T	10	0.004672587	0.00098	T	.	.	.	0.156	0.40720	.	.	0.706755276554	0.70420	0.19012550452594687	0.18930	0.174898917413	0.19690	0.307069569826	0.11463	T	0.032777	0.22635	T	-0.374278	0.03383	T	-0.305976	0.44091	T	0.0591280296414971	0.07031	T	0.272873	0.04620	T	0.20797701	0.43020	0.24547438	0.50036	0.20797701	0.43019	0.24547438	0.50035	-8.688	0.65667	D	.	.	0.255	0.48958	B	.;.;.	.;.;.	2.375908	0.30495	18.45	0.98819855230770837	0.46769	0.13737	0.18024	N	AEFBHCI	0.062492	0.12017	N	0.0617164674475527	0.44684	2.737914	-0.204796844717841	0.31362	1.774263	0.0231309669669615	0.13484	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.687789	0.68303	1	.	.	4.42	3.51	0.39297	0.637000	0.24348	.	.	0.648000	0.52827	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1:0.0:0.9:0.0	9.451	0.37889	845	0.36510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.1667	1428.06	38	chr11	124310747	.	G	T	1428.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.246;DP=239;ExcessHet=0.4139;FS=3.647;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.086;SOR=1.263	GT:AD:DP:GQ:PL	0/1:23,26:49:99:679,0,680	4	0	2	0
chr11	124543114	124543114	G	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.C541G:p.L181V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00128379336643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.295	0.20680	T	0.417	0.35244	B	0.363	0.43280	B	0.228210	0.15980	N	0.563846	1	0.08975	N	1.525	0.38595	L	8.71	0.00105	T	-2.02	0.46503	N	0.122	0.11340	-1.0477	0.15045	T	0.001	0.00188	T	10	0.15921098	0.29920	T	0.001284	0.01759	T	0.030	0.07022	0.432	0.48171	0.301455362545	0.29754	0.16750429442824222	0.16670	0.0794955650032	0.08942	0.170123904943	0.00032	T	0.006817	0.06247	T	-0.350042	0.04724	T	-0.740588	0.03866	T	0.206714287400246	0.20780	T	0.481052	0.14533	T	0.17748547	0.38718	0.1331682	0.31938	0.17748547	0.38717	0.1331682	0.31937	-5.495	0.41821	T	.	.	0.116	0.23325	B	.	.	1.757506	0.22356	15.59	0.98921905165679846	0.48583	0.07438	0.13456	N	AEFDGBI	0.128001	0.24559	N	-0.513738444466396	0.21636	1.149618	-0.597136606331921	0.19567	1.050421	2.38997017732463E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	0.268	0.14880	-3.358000	0.00553	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.435:0.0:0.565:0.0	7.900	0.28892	627	0.65350	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	.	.	.	.	.	.	.	.	0.08333	147.83	35	chr11	124543114	.	G	C	147.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.054;DP=349;ExcessHet=0;FS=63.031;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=1.77;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,16:157:99:0|1:124543114_G_C:158,0,5836:124543114	5	0	1	0
chr11	124543115	124543115	G	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.C540G:p.I180M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00347678468714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.041	0.50514	D	0.963	0.55692	D	0.928	0.66279	D	0.000936	0.41028	D	0.106396	1	0.08975	N	2.01	0.54746	M	1.11	0.38883	T	-2.34	0.51811	N	0.273	0.30914	-0.9909	0.32373	T	0.154	0.48412	T	10	0.22557211	0.39390	T	0.003477	0.07878	T	0.089	0.25827	0.481	0.56142	0.322230723748	0.31824	0.23937413898328397	0.23851	0.263554880307	0.28907	0.1906593889	0.00237	T	0.00975	0.08853	T	-0.193008	0.21819	T	-0.515019	0.20801	T	0.594590751894161	0.36187	D	0.288971	0.05229	T	0.41505137	0.61761	0.39946604	0.64509	0.41505137	0.61761	0.39946604	0.64509	-6.445	0.49860	T	.	.	0.138	0.30157	B	.	.	2.494111	0.32184	18.97	0.99508154739464083	0.68440	0.20672	0.21127	N	AEFDGBI	0.139912	0.26167	N	-0.111303303644668	0.36901	2.139253	-0.295536078505764	0.28245	1.573318	2.61761924351968E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	0.898	0.18397	-2.016000	0.01534	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.3872:0.165:0.4478:0.0	4.274	0.10246	627	0.65350	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	.	.	.	.	.	.	.	.	0.08333	147.83	35	chr11	124543115	.	G	C	147.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.787;DP=347;ExcessHet=0;FS=63.031;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=1.78;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,16:157:99:0|1:124543114_G_C:158,0,5836:124543114	5	0	1	0
chr11	124543117	124543117	T	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.A538G:p.I180V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.000915162117027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	2.52e-05	0	0	.	.	0	0	0	2.52e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.194	0.28120	T	0.023	0.18885	B	0.075	0.28327	B	0.000936	0.41028	D	0.106396	1	0.08975	N	0.26	0.09897	N	1.2	0.37405	T	-0.77	0.21429	N	0.151	0.15469	-1.0548	0.13093	T	0.051	0.21495	T	10	0.058408618	0.06863	T	9.15E-4	0.00866	T	0.033	0.08068	0.448	0.50793	0.246215685461	0.24236	0.13532409978128015	0.13456	0.0797031402011	0.08973	0.184776574373	0.00146	T	0.002821	0.02217	T	-0.244876	0.14733	T	-0.589524	0.13707	T	0.0977144622217092	0.12103	T	0.311269	0.06060	T	0.094788544	0.22293	0.117111675	0.28271	0.094788544	0.22293	0.117111675	0.28270	-4.715	0.33585	T	.	.	0.112	0.22098	B	.	.	1.434048	0.18528	13.78	0.89219603918313006	0.18611	0.10904	0.16273	N	AEFDGBI	0.096365	0.19454	N	-0.7935681210597	0.13476	0.6641812	-0.804838796942842	0.14379	0.7509723	2.36939615891188E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	0.067	0.13675	-0.426000	0.07076	.	.	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.997000	0.79791	0.1581:0.1864:0.3264:0.329	0.889	0.01171	627	0.65350	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	.	.	.	.	.	.	.	.	0.08333	138.83	35	chr11	124543117	.	T	C	138.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.372;DP=347;ExcessHet=0;FS=61.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.91;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:124543114_G_C:149,0,5970:124543114	5	0	1	0
chr11	124543118	124543118	G	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.C537G:p.D179E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00243060443032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.05	0.48080	T	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	0.999995	0.08975	N	1.29	0.32370	L	8.82	0.00043	T	-3.28	0.65627	D	0.335	0.37613	-0.9437	0.42025	T	0.001	0.00255	T	10	0.2138415	0.37888	T	0.002431	0.04785	T	0.148	0.39182	0.553	0.66995	0.193865811164	0.18958	0.21688866997228415	0.21604	0.366285121553	0.38205	0.273982226849	0.06666	T	0.017134	0.14032	T	-0.197766	0.21128	T	-0.521853	0.20108	T	0.972437977790833	0.69698	D	0.734227	0.35027	T	0.2573267	0.48777	0.22987992	0.48074	0.2573267	0.48777	0.22987992	0.48073	-5.946	0.45825	T	.	.	0.400	0.59572	A	.	.	2.324053	0.29762	18.23	0.99169752462909566	0.54355	0.14033	0.18186	N	AEFDGBI	0.143790	0.26659	N	-0.519821488451533	0.21440	1.13781	-0.75270287411912	0.15656	0.8244833	0.00384020298793938	0.10299	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	-4.5	0.03247	-0.779000	0.04764	.	.	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.6846:0.0:0.1963:0.119	8.990	0.35178	627	0.65350	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	.	.	.	.	.	.	.	.	0.08333	138.83	35	chr11	124543118	.	G	C	138.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.61;DP=347;ExcessHet=0;FS=61.032;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=2.01;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,16:160:99:0|1:124543114_G_C:149,0,5970:124543114	5	0	1	0
chr11	124543119	124543119	T	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.A536G:p.D179G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.00299327874205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	0.836432	0.34998	D	3.835	0.95663	H	8.57	0.00181	T	-6.53	0.91741	D	0.82	0.81559	-0.9721	0.36755	T	0.003	0.00961	T	10	0.8428575	0.83443	D	0.002993	0.06398	T	0.264	0.57741	0.621	0.75576	0.548865971634	0.54542	0.5401960934715023	0.53944	0.422013843895	0.42705	0.264957308769	0.05496	T	0.019277	0.15390	T	0.0916031	0.63369	D	-0.106195	0.62913	T	0.999022483825684	0.95923	D	0.839216	0.51320	T	0.955386	0.96812	0.95086056	0.98451	0.955386	0.96813	0.95086056	0.98451	-8.012	0.61152	D	.	.	0.402	0.59672	A	.	.	4.878683	0.79994	27.2	0.99842091114186371	0.92229	0.98494	0.83372	D	AEFDGBI	0.577003	0.57877	D	0.808314500698501	0.86624	8.945297	0.665388030426359	0.79759	7.151205	0.221439213998035	0.18359	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	3.89	0.44098	5.975000	0.70167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.643	0.56079	627	0.65350	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	.	.	.	.	.	.	.	.	0.08333	141.83	35	chr11	124543119	.	T	C	141.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.685;DP=348;ExcessHet=0;FS=61.683;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=2.12;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,16:159:99:0|1:124543114_G_C:152,0,5928:124543114	5	0	1	0
chr11	128974465	128974465	C	T	exonic	ARHGAP32	.	nonsynonymous SNV	ARHGAP32:NM_014715:exon11:c.G1643A:p.R548Q,ARHGAP32:NM_001142685:exon20:c.G2690A:p.R897Q,ARHGAP32:NM_001378025:exon20:c.G2570A:p.R857Q,ARHGAP32:NM_001378024:exon21:c.G2732A:p.R911Q	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00482758295936	.	.	3.295e-05	0	0	0	0	5.994e-05	0	0	3.88e-05	6	154602	rs777428169	4.104e-05	4.104e-05	3.947e-05	4.263e-05	0.0002	3.244e-05	2.919e-05	3.89e-05	3.49e-05	2.987e-05	0	0	0	0	0.0002	4.946e-05	3.311e-05	1.159e-05	6.573e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.341	0.25210	T	0.968	0.56581	D	0.34	0.42389	B	0.029260	0.25481	N	0.404750	0.640048	0.33660	D	2.32	0.66415	M	2.28	0.17271	T	-0.97	0.31981	N	0.36	0.48319	-0.9806	0.34863	T	0.051	0.21611	T	10	0.17145583	0.31865	T	0.004828	0.12098	T	0.070	0.20419	.	.	0.176862962021	0.17281	0.2935970914253194	0.29272	0.597621039819	0.54949	0.465313434601	0.34039	T	0.12998	0.45859	T	-0.233693	0.16164	T	-0.387556	0.34838	T	0.264399349586185	0.23507	T	0.89651	0.63872	D	0.1312629	0.30602	0.09601001	0.22794	0.1312629	0.30602	0.09601001	0.22793	-5.64	0.46129	T	.	.	0.128	0.34183	B	.;.;.;.	.;.;.;.	4.319276	0.66095	24.9	0.99902832979210143	0.97426	0.94802	0.62379	D	AEFDGBI	0.533440	0.55289	D	0.482708404708062	0.66082	4.904149	0.559429318833226	0.72057	5.750031	0.999996059663857	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	3.463000	0.52814	6.033000	0.52942	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9309:0.0:0.0691	15.232	0.73091	557	0.71576	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1931.83	34	chr11	128974465	.	C	T	1931.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.78;DP=338;ExcessHet=0;FS=2.023;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.658;SOR=0.849	GT:AD:DP:GQ:PL	0/1:81,72:153:99:1942,0,2133	5	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	457.03	76	chr12	4591261	.	G	C	457.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.555;DP=428;ExcessHet=1.383;FS=328.029;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=0.671;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,15:72:49:0|1:4591261_G_C:49,0,1648:4591261	3	0	3	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	39.91	76	chr12	4591262	.	T	C	39.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.669;DP=390;ExcessHet=0;FS=144.978;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.67;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,15:72:49:0|1:4591261_G_C:49,0,1648:4591261	4	0	1	1
chr12	6775305	6775305	G	A	exonic	LAG3	.	nonsynonymous SNV	LAG3:NM_002286:exon5:c.G814A:p.A272T	.	.	.	.	.	.	.	.	.	.	.	3287025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.00857452304103	.	0.000399361	0.0001	0	0	0.0016	0	0	0.0011	0.0002	0.0002264	35	154602	rs201431526	0.0001	0.0001	0.0001	9.763e-05	0.0006	9.333e-05	8.817e-05	0.0004	0.0003	0	4.472e-05	0	0.0006	0	0	2.068e-05	0.0016	0.0001	9.85e-05	9.843e-05	0.0001	6.714e-05	0.0008	6.003e-05	4.877e-05	0.0003	0.0002	0	0	0.0005	0	0.0008	0	0	0	0.0014	0.0002	0.044	0.41096	D	0.062	0.45744	T	0.946	0.53363	P	0.444	0.45865	B	0.020610	0.27003	N	0.358563	0.999926	0.19486	N	2.24	0.63355	M	2.58	0.13434	T	-2.82	0.59545	D	0.215	0.30687	-1.0891	0.05684	T	0.046	0.19919	T	10	0.034637064	0.01679	T	0.008575	0.22655	T	0.056	0.15993	.	.	0.484037581386	0.48037	0.39508536017025186	0.39423	0.230507053238	0.25597	0.372073888779	0.21129	T	0.223755	0.58800	T	-0.499675	0.00574	T	-0.564638	0.15944	T	0.0896608271975851	0.11178	T	0.688231	0.29741	T	0.10042278	0.23713	0.12167419	0.29356	0.10042278	0.23712	0.12167419	0.29355	-5.96	0.45943	T	.	.	0.094	0.14385	B	.;.	.;.	2.333375	0.29897	18.27	0.99679684050633799	0.79174	0.18293	0.20200	N	AEFDBI	0.076256	0.15336	N	-0.058220836103598	0.39236	2.310545	-0.127384332434635	0.34290	1.970829	0.99999950687419	0.74766	0.676563	0.55306	0	0.586065	0.33999	0	0.673471	0.61138	0	0.491896	0.07777	0	.	.	5.55	4.66	0.57857	1.826000	0.38730	2.986000	0.35860	0.662000	0.56354	0.389000	0.26079	0.951000	0.29025	0.101000	0.18331	0.0899:0.0:0.9101:0.0	10.520	0.44099	398	0.82839	.;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	936.83	36	chr12	6775305	.	G	A	936.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.41;DP=232;ExcessHet=0;FS=8.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=0;SOR=2.224	GT:AD:DP:GQ:PL	0/1:32,29:61:99:947,0,786	5	0	1	0
chr12	6850587	6850587	A	G	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon3:c.T130C:p.S44P,CDCA3:NM_001297603:exon3:c.T130C:p.S44P,CDCA3:NM_001297604:exon3:c.T130C:p.S44P,CDCA3:NM_031299:exon3:c.T130C:p.S44P	.	416	1046	57	3	0	63	0.0292343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	0.0011	0.00239617	0.0042	0.0004	0.0040	0.0001	0	0.0011	0.0066	0.0231	0.003564	551	154602	rs150858074	0.0018	0.0019	0.0012	0.0025	0.0224	0.0018	0.0018	0.0216	0.0212	8.961e-05	0.0018	0.0013	2.519e-05	3.744e-05	0.0097	0.0004	0.0022	0.0224	0.0012	0.0012	0.0009	0.0015	0.0208	0.0010	0.0010	0.0175	0.0163	7.249e-05	0	0.0004	0.0020	0	9.468e-05	0.0034	0.0008	0.0009	0.0208	0.003	0.68238	D	0.005	0.72224	D	0.335	0.33330	B	0.114	0.31755	B	0.004789	0.33389	N	0.293987	0.986275	0.45182	D	2.455	0.71248	M	.	.	.	-1.81	0.57762	N	0.459	0.54496	-0.7274	0.59094	T	0.186	0.53586	T	9	0.006612748	0.00150	T	.	.	.	0.154	0.40340	.	.	0.431952752558	0.42816	0.45802854476548793	0.45720	0.78041944085	0.65269	0.532909572124	0.43444	T	0.193662	0.54920	T	-0.18533	0.22947	T	-0.021404	0.68936	D	0.0810008470602898	0.10115	T	0.793221	0.43505	T	0.46215984	0.64805	0.5441816	0.73653	0.46215984	0.64806	0.5441816	0.73653	-3.572	0.17453	T	.	.	0.448	0.62097	A	.;.;.;.;.	.;.;.;.;.	4.573058	0.72174	25.8	0.99826152259785705	0.90852	0.90070	0.50964	D	AEFDGBCI	0.816385	0.73813	D	0.245040344701089	0.53393	3.508432	0.361695448431946	0.59215	4.097542	0.999999923949678	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.7	5.7	0.88690	4.046000	0.57088	9.183000	0.79090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9142:0.0:0.0858:0.0	8.525	0.32460	564	0.70960	.;.;.;.;.	.	.	.	.	.	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	0.000000	0.008152	0.002924	0.000000	0.017241	0.009146	0.022727	0.08333	721.83	36	chr12	6850587	.	A	G	721.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.247;DP=236;ExcessHet=0;FS=2.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.557;SOR=0.36	GT:AD:DP:GQ:PL	0/1:33,27:60:99:732,0,836	5	0	1	0
chr12	10407787	10407787	G	A	exonic	KLRC4	.	nonsynonymous SNV	KLRC4:NM_013431:exon4:c.C343T:p.R115C	.	448	1073	1	0	0	1	0.000465766	.	.	.	3983875	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00177955908164	.	.	8.28e-06	0	0	0	0	0	0	6.176e-05	6.5e-06	1	154602	rs752700630	4.839e-06	6.156e-06	1.375e-06	8.345e-06	6.13e-05	2.01e-06	1.29e-06	1.015e-05	3.8e-06	6.13e-05	4.865e-05	0	0	0	0	9.034e-07	0	2.427e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.237	0.24621	T	0.024	0.19075	B	0.02	0.19048	B	0.178824	0.03167	N	1.668120	1	0.08975	N	0.205	0.09354	N	3.53	0.04852	T	0.66	0.02297	N	0.052	0.02366	-0.9627	0.38664	T	0.011	0.03996	T	10	0.05484	0.05902	T	0.00178	0.03037	T	0.034	0.08419	0.457	0.52265	0.178374595973	0.17440	0.12935475570143548	0.12860	0.320369429147	0.34245	0.266242444515	0.05657	T	0.00592	0.05364	T	-0.430725	0.01467	T	-0.619814	0.11199	T	0.0148473336578225	0.00313	T	0.144386	0.01177	T	0.043136872	0.06669	0.029037794	0.01198	0.043136872	0.06669	0.029037794	0.01198	-1.637	0.02070	T	.	.	0.089	0.12371	B	.	.	-0.092278	0.03686	0.748	0.48528971656360453	0.04057	0.00126	0.00785	N	AEFBI	0.036798	0.04959	N	-1.67927741164254	0.00918	0.03974227	-1.75573531811432	0.00912	0.04078871	5.90053676195863E-4	0.07390	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.89	-4.8	0.02957	-1.449000	0.02498	-8.620000	0.00940	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1999:0.1452:0.512:0.1429	4.191	0.09882	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	40.92	34	chr12	10407787	.	G	A	40.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.461;DP=459;ExcessHet=0;FS=169.264;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.29;ReadPosRankSum=-0.06;SOR=8.346	GT:AD:DP:GQ:PL	0/1:102,37:139:51:51,0,1521	5	0	1	0
chr12	11267600	11267600	C	G	exonic	PRB3	.	nonsynonymous SNV	PRB3:NM_006249:exon3:c.G649C:p.G217R	.	554	955	9	3	1	16	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00053745071027	0.0064	.	0.0006	0.0001	0.0003	0	0	0.0007	0.0012	0.0008	0.0002689	7	26028	rs200117404	0.0008	0.0012	0.0006	0.0011	0.0043	0.0008	0.0008	0.0039	0.0037	0.0001	0.0006	0.0042	0	0.0006	0.0021	0.0006	0.0013	0.0043	0.0002	0.0008	0.0002	0.0001	0.0006	9.821e-05	7.92e-05	7.303e-05	5.175e-05	0.0001	0	0.0001	0.0009	0	0.0002	0	0.0002	0	0.0006	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.4	0.05642	T	-3.86	0.72471	D	0.071	0.04426	-1.0358	0.18606	T	0.018	0.07329	T	8	0.026720881	0.00833	T	5.37E-4	0.00196	T	0.067	0.19503	.	.	0.198526703765	0.19489	0.35037097652030363	0.34951	.	.	0.37344238162	0.21324	T	.	.	.	-0.129039	0.31651	T	-0.423132	0.30717	T	0.0773219913244247	0.09641	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.63095	A	.	.	1.017517	0.13970	10.53	0.69633306977402365	0.09035	0.01347	0.04625	N	AEFBI	0.035500	0.04579	N	-0.602537884583428	0.18867	0.9830366	-0.903160050699606	0.12020	0.6158615	1.66600023642478E-5	0.02871	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.058706	0.01089	0	.	.	1.25	-1.05	0.09523	-1.501000	0.02385	-7.541000	0.01135	0.241000	0.18245	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.2593:0.5495:0.0:0.1912	3.046	0.05780	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	0.018538	0.005102	0.021739	0.016393	0.000000	0.025862	0.015244	0.034351	0.08333	186.83	77	chr12	11267600	.	C	G	186.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.485;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=47.39;MQRankSum=2.66;QD=6.03;ReadPosRankSum=-1.383;SOR=0.602	GT:AD:DP:GQ:PL	0/1:19,12:31:99:197,0,393	5	0	1	0
chr12	11393194	11393194	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB2:NM_006248:exon3:c.G884A:p.R295Q,PRB1:NM_001367912:exon4:c.G880A:p.E294K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000637035113161	.	0.00139776	0.0004	0.0039	8.639e-05	0.0002	0	3.029e-05	0	0.0001	0.0003363	52	154602	rs11054275	7.336e-05	7.322e-05	6.821e-05	7.856e-05	0.0018	6.195e-05	5.754e-05	0.0015	0.0013	0.0018	0.0001	0	2.527e-05	0	0.0005	1.441e-05	0.0003	4.657e-05	0.0003	0.0004	0.0004	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	0.0012	0	0	0	0	0	0	3.531e-05	0	0.0003	.	.	.	0.605	0.07816	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.69	0.04114	T	0.04	0.06488	N	0.086	0.06322	-0.9533	0.40398	T	0.003	0.00929	T	9	0.0067015886	0.00152	T	6.37E-4	0.00334	T	0.036	0.09122	.	.	0.0297737177859	0.01360	0.03580908256459517	0.03527	0.075177927071	0.08431	.	.	.	.	.	.	-0.727257	0.00025	T	-0.836445	0.01153	T	0.00484647137999677	0.00052	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02733	B	.	.	0.634682	0.10029	6.783	0.73817819578110389	0.10466	0.00153	0.00922	N	AEFGI	0.016537	0.00378	N	-1.64118818452201	0.01073	0.0465542	-1.66889194358337	0.01282	0.05778512	3.98168178582866E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.36	-2.72	0.05616	-0.568000	0.06000	-2.254000	0.03992	-0.917000	0.02218	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.2416:0.2984:0.46	2.953	0.05508	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	.	.	.	.	.	.	.	.	0.08333	1424.83	50	chr12	11393194	.	C	T	1424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=318;ExcessHet=0;FS=11.84;MLEAC=1;MLEAF=0.083;MQ=54.28;MQRankSum=0.369;QD=12.28;ReadPosRankSum=-0.887;SOR=0.614	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1435,0,1210	5	0	1	0
chr12	18738769	18738769	C	A	exonic	CAPZA3	.	nonsynonymous SNV	CAPZA3:NM_033328:exon1:c.C501A:p.N167K	.	423	1087	11	1	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	.	0.0080	0.00519169	0.0086	0.0027	0.0024	0.0010	0.0065	0.0109	0.0011	0.0127	0.0084216	1302	154602	rs34456980	0.0084	0.0084	0.0083	0.0084	0.0115	0.0082	0.0082	0.0109	0.0107	0.0022	0.0031	0.0214	0.0011	0.0085	0.0047	0.0085	0.0083	0.0115	0.0069	0.0069	0.0065	0.0073	0.0137	0.0066	0.0064	0.0110	0.0101	0.0021	0.0066	0.0047	0.0228	0.0015	0.0057	0	0.0096	0.0085	0.0137	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.058948	0.998964	0.45775	D	2.34	0.67151	M	.	.	.	-5.84	0.88431	D	0.896	0.89577	-0.3998	0.72033	T	0.291	0.66307	T	9	0.01655814	0.00350	T	.	.	.	0.385	0.70194	0.794	0.91511	0.63174592986	0.62873	0.5303274396702685	0.52956	0.220499764335	0.24593	0.630053043365	0.57152	T	0.520901	0.83243	D	-0.45342	0.01078	T	-0.410457	0.32173	T	0.0756128621152267	0.09417	T	0.686431	0.29515	T	0.8488296	0.87249	0.69591194	0.82096	0.8488296	0.87251	0.69591194	0.82097	-4.166	0.26257	T	.	.	0.936	0.85539	P	.	.	1.867189	0.23722	16.12	0.98709154156678691	0.45025	0.67555	0.33475	D	AEFBI	0.254123	0.37350	N	-0.168282747723877	0.34459	1.96717	-0.356609488855699	0.26305	1.452112	9.42820835611779E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	-3.81	0.04013	0.109000	0.15252	-2.713000	0.03439	-0.130000	0.13190	0.981000	0.35396	0.000000	0.08366	0.960000	0.51673	0.0:0.5657:0.0:0.4343	12.416	0.54831	846	0.36215	.	.	.	.	.	rs34456980	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.011364	0.08333	1378.83	33	chr12	18738769	.	C	A	1378.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.7;DP=304;ExcessHet=0;FS=2.326;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.243;SOR=0.513	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1389,0,1552	5	0	1	0
chr12	20752345	20752345	G	T	exonic	SLCO1C1	.	nonsynonymous SNV	SLCO1C1:NM_001145944:exon13:c.G1705T:p.V569F,SLCO1C1:NM_001145946:exon16:c.G2059T:p.V687F	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0024	0.0255591	0.0149	0.0051	0.0707	0.0472	0	0.0004	0.01	0.0300	0.013732	2123	154602	rs111796962	0.0055	0.0055	0.0051	0.0059	0.0610	0.0054	0.0053	0.0591	0.0583	0.0062	0.0610	0.0020	0.0468	0	0.0016	0.0002	0.0075	0.0289	0.0080	0.0081	0.0073	0.0087	0.0462	0.0077	0.0075	0.0414	0.0395	0.0056	0	0.0341	0.0020	0.0462	0	0	0.0003	0.0109	0.0369	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.304973	0.03978	N	1.475830	1	0.81001	D	.	.	.	1.08	0.39401	T	-0.78	0.21644	N	0.1	0.20395	-1.0475	0.15102	T	0.013	0.05033	T	9	0.0020157099	0.00028	T	.	.	.	0.061	0.17616	.	.	.	.	0.29172093946107275	0.29085	.	.	0.340290784836	0.16482	T	.	.	.	-0.536088	0.00353	T	-0.49415	0.22956	T	0.0597407044881503	0.07128	T	0.438556	0.12074	T	.	.	.	.	.	.	.	.	-3.444	0.15766	T	.	.	0.070	0.03336	B	.;.	.;.	0.046188	0.04608	1.278	0.98935743843537804	0.48845	0.71390	0.34992	D	AEFI	0.059824	0.11326	N	-0.523306093580169	0.21328	1.131061	-0.38618225948697	0.25408	1.397109	6.95434252018863E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.37	3.57	0.40014	0.552000	0.23083	0.686000	0.20722	-0.106000	0.15538	0.954000	0.33273	0.913000	0.28170	0.915000	0.45038	0.1662:0.0:0.8338:0.0	9.344	0.37262	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.007576	0.08333	746.83	34	chr12	20752345	.	G	T	746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.641;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.042;SOR=0.76	GT:AD:DP:GQ:PL	0/1:43,27:70:99:757,0,1313	5	0	1	0
chr12	30731432	30731432	T	C	exonic	CAPRIN2	.	nonsynonymous SNV	CAPRIN2:NM_001002259:exon6:c.A971G:p.K324R,CAPRIN2:NM_001206856:exon6:c.A971G:p.K324R,CAPRIN2:NM_001319843:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385498:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385499:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385500:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385516:exon6:c.A971G:p.K324R,CAPRIN2:NM_001385518:exon6:c.A971G:p.K324R,CAPRIN2:NM_023925:exon6:c.A971G:p.K324R,CAPRIN2:NM_032156:exon6:c.A971G:p.K324R,CAPRIN2:NM_001319844:exon7:c.A728G:p.K243R,CAPRIN2:NM_001319845:exon7:c.A728G:p.K243R,CAPRIN2:NM_001319846:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385501:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385502:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385503:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385504:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385505:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385506:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385507:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385508:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385509:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385510:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385511:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385512:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385513:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385514:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385515:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385519:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385520:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385521:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385522:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385523:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385524:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385525:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385526:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385527:exon7:c.A728G:p.K243R,CAPRIN2:NM_001385535:exon7:c.A728G:p.K243R	.	434	1079	8	1	0	10	0.00461255	.	.	.	2806823	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.0906357433981	.	0.00139776	0.0011	0	0	0	0	7.507e-05	0.0011	0.0076	0.000912	141	154602	rs574786135	0.0004	0.0004	0.0003	0.0006	0.0063	0.0004	0.0004	0.0058	0.0056	5.982e-05	0	0	2.525e-05	0	0.0017	5.219e-05	0.0006	0.0063	0.0002	0.0002	0.0001	0.0003	0.0050	0.0001	0.0001	0.0034	0.0029	0	0	0	0	0	0	0.0034	8.827e-05	0	0.0050	0.496	0.22138	T	0.665	0.18675	T	0.178	0.36706	B	0.086	0.32635	B	0.559262	0.11353	N	0.817324	1	0.81001	D	2.08	0.57402	M	2.46	0.95387	T	-0.81	0.24460	N	0.141	0.14054	0.088	0.83963	D	0.694	0.89459	D	10	0.0057718754	0.00129	T	0.090636	0.75556	D	0.056	0.15993	0.324	0.30549	0.538882897946	0.53539	0.13450428255761052	0.13374	0.0585339149896	0.06489	0.402512848377	0.25419	T	0.018876	0.15137	T	-0.258031	0.13132	T	-0.139834	0.60134	T	0.0268227118669276	0.01519	T	0.762524	0.38803	T	.	.	.	.	.	.	.	.	-5.784	0.44435	T	.	.	0.089	0.13174	B	.;.;.;.;.	.;.;.;.;.	2.877913	0.38074	20.6	0.96215994161808793	0.29069	0.76694	0.37635	D	AEFBI	0.206184	0.33247	N	-0.349730469643535	0.27281	1.49557	-0.212798439563555	0.31074	1.755343	0.974576081877004	0.29555	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.1	3.96	0.45097	1.999000	0.40425	4.085000	0.41766	-0.120000	0.14102	0.997000	0.40164	1.000000	0.68203	0.989000	0.64315	0.0:0.0873:0.2108:0.7019	6.335	0.20499	912	0.21483	.;.;.;.;.	.	.	.	.	.	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	0.003525	0.005051	0.000000	0.000000	0.000000	0.008621	0.012195	0.003788	0.08333	1029.83	34	chr12	30731432	.	T	C	1029.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.52;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.105;SOR=0.764	GT:AD:DP:GQ:PL	0/1:54,41:95:99:1040,0,1245	5	0	1	0
chr12	32850772	32850772	T	C	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon5:c.A1372G:p.I458V,PKP2:NM_004572:exon5:c.A1372G:p.I458V	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	2	1502	18	0	0	18	0.00595632	.	.	YES	54188	Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_9|Cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided|PKP2-related_disorder	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.238	0.131746136054	.	0.00159744	0.0013	0	8.654e-05	0	0	6.005e-05	0.0022	0.0091	0.0010737	166	154602	rs199571473	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	8.977e-05	2.236e-05	0	2.519e-05	0	0.0031	2.609e-05	0.0006	0.0095	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0001	0	0.0095	0.329	0.13175	T	0.105	0.39190	T	0.783	0.54666	P	0.588	0.54017	P	0.004144	0.34057	N	0.315671	0.95626	0.37965	D	0.73	0.18813	N	-0.36	0.68754	T	-0.57	0.19297	N	0.359	0.40063	-0.8034	0.54944	T	0.193	0.54667	T	10	0.009797215	0.00220	T	0.131746	0.81402	D	0.238	0.54217	.	.	0.561255953167	0.55787	0.12082017086383469	0.12009	0.528918376042	0.50453	0.590106010437	0.51509	T	0.141046	0.47591	T	-0.366006	0.03801	T	-0.292545	0.45508	T	0.0578029969033374	0.06818	T	0.766723	0.39447	T	0.10640072	0.25160	0.06553663	0.13298	0.10064365	0.23766	0.092574775	0.21824	-3.903	0.22348	T	0.2217153081542665	0.29907	0.138	0.58617	B	.;.	.;.	3.147412	0.42591	21.6	0.99848325046109443	0.92750	0.86419	0.45695	D	AEFDBI	0.532488	0.55233	D	0.054228577332818	0.44337	2.709635	0.133071421694827	0.46251	2.87414	0.0284775564298479	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	4.7	4.7	0.58776	3.398000	0.52325	4.908000	0.45924	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1612:0.8388	10.608	0.44594	666	0.61362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005482	0.000000	0.000000	0.020548	0.000000	0.008621	0.000000	0.011811	0.08333	585.83	34	chr12	32850772	.	T	C	585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.391;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.97;ReadPosRankSum=-0.264;SOR=0.712	GT:AD:DP:GQ:PL	0/1:55,29:84:99:596,0,1456	5	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	582.61	32	chr12	39764776	.	G	C	582.61	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.452;DP=279;ExcessHet=6.1542;FS=487.012;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.68;ReadPosRankSum=0.852;SOR=9.49	GT:AD:DP:GQ:PL	0/1:23,15:38:43:43,0,297	1	0	5	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	3610.71	725	chr12	40482890	.	T	*	3610.71	.	AC=5;AF=0.625;AN=8;BaseQRankSum=-0.907;DP=5463;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.75;MQ=58.02;MQRankSum=-21.32;QD=1.08;ReadPosRankSum=2.88;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:9,763:772:99:.:.:32510,2083,0:.	1	2	1	2
chr12	40485607	40485696	GGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGA	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	.	0.0003	0.0002	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0	0.0006	0	0	0	0.0003	0.0004	0.0004	0.0006	0.0011	0.0007	0.0006	0.0009	0.0005	0.0005	0.0006	0.0005	0.0004	0	0.0009	0.0009	0.0002	0.0006	0	0.0008	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	7823.01	679	chr12	40485606	.	GGGTGACAGGGACAGGTAGACTATCAGCTGAAGTGACAGGGACAACTGGCCCATCAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGA	G	7823.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=3456;ExcessHet=0.4139;FS=2.485;MLEAC=1;MLEAF=0.083;MQ=54.38;MQRankSum=7.43;QD=7.15;ReadPosRankSum=7.85;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,231:273:99:0|1:40485585_A_G:7833,0,343:40485585	5	0	1	0
chr12	40485608	40485637	GTGACAGGGACAGGTAGACTATCAGCTGAA	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.741e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	343.0	679	chr12	40485607	.	GGTGACAGGGACAGGTAGACTATCAGCTGAA	G	343.0	.	AC=1;AF=0.083;AN=12;DP=3445;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.23;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,42:273:99:1|0:40485585_A_G:16334,8838,7833:40485585	5	0	1	0
chr12	40485607	40485637	GGTGACAGGGACAGGTAGACTATCAGCTGAA	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	343.0	679	chr12	40485607	.	GGTGACAGGGACAGGTAGACTATCAGCTGAA	*	343.0	.	AC=2;AF=0.167;AN=12;DP=3445;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=54.23;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,231:273:99:1|0:40485585_A_G:16334,1556,343:40485585	4	0	2	0
chr12	40485655	40485657	CCC	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455242824	0	1.402e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.071e-05	6.699e-05	2.699e-05	1.413e-05	0.0002	5.51e-06	2.53e-06	.	.	2.538e-05	0	0	0	0.0002	0	0	1.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	343.0	679	chr12	40485654	.	GCCC	G	343.0	.	AC=1;AF=0.083;AN=12;DP=3385;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.98;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,42:273:99:1|0:40485585_A_G:15909,8799,7833:40485585	5	0	1	0
chr12	40485654	40485657	GCCC	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	343.0	679	chr12	40485654	.	GCCC	*	343.0	.	AC=2;AF=0.167;AN=12;DP=3385;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.98;QD=0.31;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,231:273:99:1|0:40485585_A_G:15909,1516,343:40485585	4	0	2	0
chr12	40485661	40485747	AGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	343.0	679	chr12	40485660	.	CAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	C	343.0	.	AC=1;AF=0.083;AN=12;DP=3365;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=53.94;MQRankSum=1.84;QD=0.31;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,42:274:99:1|0:40485585_A_G:15894,8760,7833:40485585	5	0	1	0
chr12	40485660	40485747	CAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	343.0	679	chr12	40485660	.	CAGCTGAAGTAACAGGGCTACCTGGAGAATCAGCTGAGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGGACAACTCAGCT	*	343.0	.	AC=2;AF=0.167;AN=12;DP=3365;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.94;MQRankSum=1.84;QD=0.31;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,231:274:99:1|0:40485585_A_G:15894,1477,343:40485585	4	0	2	0
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6371.03	740	chr12	40486404	.	T	TATCA	6371.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=5.67;DP=4248;ExcessHet=0.4139;FS=59.339;MLEAC=2;MLEAF=0.167;MQ=57.2;MQRankSum=-24.1;QD=4.47;ReadPosRankSum=-6.812;SOR=6.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:488,154:642:99:0|1:40486404_T_TATCA:4654,0,19548:40486404	4	0	2	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6045.18	749	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	6045.18	.	AC=2;AF=0.25;AN=8;BaseQRankSum=8.4;DP=4276;ExcessHet=0.4139;FS=44.818;MLEAC=2;MLEAF=0.25;MQ=57.15;MQRankSum=-21.31;QD=4.56;ReadPosRankSum=-6.734;SOR=5.464	GT:AD:DP:GQ:PL	0/1:488,100:590:99:4968,0,19538	2	0	2	2
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4965.01	732	chr12	40486506	.	A	*	4965.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.78;DP=5361;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.14;QD=1.05;ReadPosRankSum=-1.393;SOR=1.459	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:464,349:813:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13341,0,18332:40486484	1	0	5	0
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4962.01	732	chr12	40486507	.	G	*	4962.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=5.4;DP=5358;ExcessHet=11.5949;FS=17.554;MLEAC=5;MLEAF=0.417;MQ=58.42;MQRankSum=-13.16;QD=1.05;ReadPosRankSum=-1.443;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:464,349:813:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13341,0,18332:40486484	1	0	5	0
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4473.01	732	chr12	40486514	.	G	*	4473.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.1;DP=5372;ExcessHet=11.5949;FS=17.567;MLEAC=5;MLEAF=0.417;MQ=58.43;MQRankSum=-13.92;QD=0.95;ReadPosRankSum=-3.436;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:464,349:813:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:13341,0,18332:40486484	1	0	5	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	.	.	.	.	.	.	.	.	0.08333	576.83	691	chr12	40487346	.	A	T	576.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.155;DP=4568;ExcessHet=0;FS=15.304;MLEAC=1;MLEAF=0.083;MQ=55.84;MQRankSum=-13.16;QD=0.73;ReadPosRankSum=-0.893;SOR=6.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:721,71:792:99:0|1:40487346_A_T:587,0,30012:40487346	5	0	1	0
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	.	.	.	.	.	.	.	.	0.08333	485.04	691	chr12	40487347	.	G	C	485.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.81;DP=4571;ExcessHet=0;FS=15.304;MLEAC=1;MLEAF=0.083;MQ=55.83;MQRankSum=-13.38;QD=0.65;ReadPosRankSum=-0.995;SOR=6.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:723,23:747:99:0|1:40487346_A_T:581,0,30115:40487346	5	0	1	0
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	.	.	.	.	.	.	.	.	0.08333	559.83	691	chr12	40487354	.	G	A	559.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=4581;ExcessHet=0;FS=15.25;MLEAC=1;MLEAF=0.083;MQ=55.77;MQRankSum=-13.28;QD=0.7;ReadPosRankSum=0.663;SOR=6.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:727,71:798:99:0|1:40487346_A_T:570,0,30297:40487346	5	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	14265.8	784	chr12	40487424	.	T	TTGG	14265.8	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.854;DP=5239;ExcessHet=11.5949;FS=9.249;MLEAC=1;MLEAF=0.083;MQ=56.7;MQRankSum=-17.81;QD=3.6;ReadPosRankSum=6.38;SOR=2.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:778,0:781:99:.:.:5465,0,32102:.	5	0	1	0
chr12	40488804	40488804	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	551	952	6	0	13	19	0.00314136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs373977888	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0006	0.0001	0.0001	0.0002	8.081e-05	6.412e-05	8.089e-05	5.714e-05	7.051e-05	0	0.0002	0.0006	0	0.0002	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	1945.68	639	chr12	40488804	.	T	C	1945.68	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.3;DP=5122;ExcessHet=0;FS=5.223;MLEAC=1;MLEAF=0.125;MQ=57.38;MQRankSum=-18.35;QD=1.98;ReadPosRankSum=-11.94;SOR=1.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:874,109:983:99:0|1:40488804_T_C:1954,0,33648:40488804	3	0	1	2
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	531.59	126	chr12	40509053	.	T	A	531.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.534;DP=619;ExcessHet=1.383;FS=1.363;MLEAC=3;MLEAF=0.3;MQ=59.17;MQRankSum=-9.247;QD=1.45;ReadPosRankSum=2.63;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,16:153:99:0|1:40509053_T_A:240,0,5621:40509053	2	0	3	1
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	.	.	.	.	.	.	.	.	0.3	525.59	126	chr12	40509056	.	G	A	525.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.68;DP=619;ExcessHet=1.383;FS=1.363;MLEAC=3;MLEAF=0.3;MQ=59.21;MQRankSum=-9.247;QD=1.43;ReadPosRankSum=2.51;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,16:155:99:0|1:40509053_T_A:234,0,5713:40509053	2	0	3	1
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	.	.	.	.	.	.	.	.	0.3	520.59	127	chr12	40509061	.	G	C	520.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.095;DP=617;ExcessHet=1.383;FS=0.65;MLEAC=3;MLEAF=0.3;MQ=59.24;MQRankSum=-9.192;QD=1.44;ReadPosRankSum=2.33;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,15:148:99:0|1:40509053_T_A:229,0,5539:40509053	2	0	3	1
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	520.59	127	chr12	40509062	.	A	C	520.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.553;DP=620;ExcessHet=1.383;FS=0.65;MLEAC=3;MLEAF=0.3;MQ=59.25;MQRankSum=-9.192;QD=1.44;ReadPosRankSum=2.3;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,15:148:99:0|1:40509053_T_A:229,0,5539:40509053	2	0	3	1
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	.	.	.	.	.	.	.	.	0.3	402.59	126	chr12	40509076	.	G	A	402.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.557;DP=620;ExcessHet=1.383;FS=1.434;MLEAC=3;MLEAF=0.3;MQ=59.29;MQRankSum=-9.192;QD=1.13;ReadPosRankSum=2.33;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,14:145:99:0|1:40509076_G_A:153,0,5431:40509076	2	0	3	1
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	.	.	.	.	.	.	.	.	0.3	359.59	131	chr12	40509081	.	T	C	359.59	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.302;DP=626;ExcessHet=1.383;FS=0.679;MLEAC=3;MLEAF=0.3;MQ=59.35;MQRankSum=-9.192;QD=0.99;ReadPosRankSum=2.32;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,13:146:99:0|1:40509076_G_A:125,0,5477:40509076	2	0	3	1
chr12	49030304	49030304	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon43:c.C13975T:p.R4659W	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	995233	Kabuki_syndrome	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.288	0.349753338637	.	0.000199681	5e-05	0	0	0.0002	0	0	0	0.0002	2.59e-05	4	154602	rs558561472	1.516e-05	1.573e-05	1.095e-05	1.943e-05	0.0001	9.93e-06	8.48e-06	4.946e-05	3.191e-05	2.999e-05	0	0	0.0001	0	0	1.446e-05	0	0	1.315e-05	1.313e-05	2.572e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.002	0.72154	D	.	.	.	0.978	0.58756	D	0.328	0.42011	B	0.545140	0.11495	N	0.712469	0.998578	0.22064	N	1.5	0.37844	L	-1.64	0.82533	D	-3.15	0.64132	D	0.307	0.34659	-0.7163	0.59644	T	0.308	0.67822	T	10	0.12035215	0.22794	T	0.349753	0.92237	D	0.288	0.60691	0.218	0.13932	0.36413608308	0.36018	0.13057394669557557	0.12982	0.15301633933	0.17264	0.33336353302	0.15442	T	0.216712	0.57896	T	-0.17094	0.25092	T	-0.257618	0.49063	T	0.40893092751503	0.29278	T	0.861714	0.55578	D	0.13003787	0.30354	0.2121448	0.45671	0.13003787	0.30354	0.2121448	0.45670	-5.621	0.42984	T	.	.	0.101	0.17573	B	.	.	3.225588	0.43964	21.8	0.97034509500761268	0.32084	0.88877	0.49021	D	AEFGBCI	0.253970	0.37337	N	0.0115953410347507	0.42383	2.552551	0.0873464406718693	0.43909	2.683141	0.0633056771283325	0.15291	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.58	3.68	0.41359	1.467000	0.34930	6.223000	0.55146	0.676000	0.76740	0.922000	0.32020	1.000000	0.68203	0.993000	0.69303	0.0:0.2944:0.7056:0.0	13.730	0.62260	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	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	4165.06	33	chr12	49030304	.	G	A	4165.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.249;DP=463;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.901;SOR=0.711	GT:AD:DP:GQ:PL	0/1:68,95:163:99:2341,0,1550	4	0	2	0
chr12	53054426	53054426	C	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon7:c.C537A:p.H179Q,TNS2:NM_170754:exon7:c.C507A:p.H169Q,TNS2:NM_198316:exon7:c.C135A:p.H45Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.873	0.325057946928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	-5.04	0.98594	D	-7.16	0.94120	D	0.827	0.82257	1.079	0.98838	D	0.977	0.99277	D	10	0.8484609	0.84017	D	0.325058	0.91588	D	0.873	0.96207	0.553	0.66995	0.706899689419	0.70434	0.8222501660993322	0.82182	0.837771134637	0.67883	0.876588702202	0.93497	D	0.859903	0.96882	D	0.537675	0.95355	D	0.534556	0.95286	D	0.996442854404449	0.89358	D	0.910709	0.70532	D	0.92715234	0.93952	0.8747276	0.93194	0.92715234	0.93952	0.8747276	0.93194	-11.657	0.85498	D	.	.	0.969	0.93759	P	.;.;.;.;.;.	.;.;.;.;.;.	4.363546	0.67123	25.1	0.99336034129106998	0.59973	0.78085	0.38474	D	ALL	0.609664	0.59878	D	0.787888631262972	0.85342	8.547452	0.679875592318111	0.80854	7.392078	1.0	0.98316	0.441713	0.08003	0	0.179345	0.04101	3	0.47417	0.07244	0	0.56214	0.19341	0	.	.	4.93	4.93	0.64394	0.706000	0.25365	2.165000	0.31010	0.520000	0.23804	0.998000	0.41325	1.000000	0.68203	0.953000	0.50222	0.0:0.903:0.0:0.097	9.625	0.38910	762	0.50290	.;.;Tensin-type phosphatase domain;.;.;Tensin-type 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	.	.	.	.	.	.	.	.	0.08333	1213.83	35	chr12	53054426	.	C	A	1213.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.286;DP=273;ExcessHet=0;FS=0.839;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.17;SOR=0.569	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1224,0,1040	5	0	1	0
chr12	53196758	53196758	G	T	exonic	ITGB7	.	nonsynonymous SNV	ITGB7:NM_000889:exon6:c.C637A:p.R213S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0825578291581	0.0004	0.000599042	0.0006	0	0.0012	0	0	0.0008	0.0011	0	0.0006015	93	154602	rs11574537	0.0006	0.0006	0.0006	0.0006	0.0054	0.0005	0.0005	0.0039	0.0034	0.0004	0.0016	0.0091	0	0	0.0054	0.0003	0.0017	3.48e-05	0.0008	0.0008	0.0008	0.0008	0.0022	0.0007	0.0007	0.0016	0.0014	0.0002	0	0.0022	0.0104	0	0	0.0170	0.0006	0.0028	0	0.011	0.55530	D	0.197	0.27855	T	0.221	0.30336	B	0.107	0.31211	B	0.267061	0.15201	N	0.491750	1	0.08975	N	1.465	0.36909	L	-3.02	0.92258	D	-2.02	0.46503	N	0.44	0.49965	-0.2706	0.75795	T	0.559	0.83919	D	10	0.0107575655	0.00238	T	0.082558	0.73927	D	0.338	0.66010	.	.	0.883221294441	0.88207	0.5358905244624111	0.53514	0.565344544128	0.52876	0.361900389194	0.19662	T	0.605	0.87387	D	-0.225307	0.17273	T	-0.131792	0.60821	T	0.0129271835238952	0.00223	T	0.819518	0.63671	T	0.43884242	0.63328	0.22037275	0.46810	0.43884242	0.63328	0.22037275	0.46809	-6.585	0.50938	T	.	.	0.151	0.38658	B	.;.;.	.;.;.	3.489234	0.48758	22.7	0.99037735821458062	0.50939	0.17479	0.19855	N	AEFBCI	0.202013	0.32864	N	-0.321542058664074	0.28331	1.561775	-0.250838444849185	0.29742	1.66884	0.998527127172996	0.37129	0.67177	0.52595	0	0.702456	0.74545	0	0.491614	0.08109	1	0.567892	0.33627	0	.	.	5.05	4.15	0.47978	0.455000	0.21555	6.637000	0.56171	0.672000	0.70159	0.000000	0.06391	1.000000	0.68203	0.986000	0.61781	0.0:0.1485:0.6978:0.1538	10.113	0.41745	744	0.52588	Integrin beta subunit, VWA domain|Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain|Integrin beta subunit, VWA 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	0.010070	0.020202	0.009511	0.011696	0.000000	0.008621	0.003049	0.000000	0.1667	3206.06	35	chr12	53196758	.	G	T	3206.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.37;DP=430;ExcessHet=0.4139;FS=6.482;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.976;SOR=0.87	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1340,0,1556	4	0	2	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	428.48	78	chr12	54363394	.	G	A	428.48	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.22;DP=463;ExcessHet=1.383;FS=284.876;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.03;SOR=8.739	GT:AD:DP:GQ:PL	0/1:59,36:95:99:276,0,1101	3	0	3	0
chr12	55681815	55681815	C	T	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon1:c.C61T:p.L21F	.	431	1064	25	2	0	29	0.0134446	.	.	.	702406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0042	0.000998403	0.0073	0.0010	0.0042	0	0.0012	0.0136	0.0150	0.0034	0.0027037	418	154602	rs199581976	0.0036	0.0036	0.0035	0.0037	0.0193	0.0035	0.0035	0.0164	0.0153	0.0011	0.0027	0.0266	0	0.0007	0.0193	0.0033	0.0054	0.0027	0.0034	0.0034	0.0036	0.0032	0.0041	0.0032	0.0031	0.0037	0.0036	0.0008	0.0088	0.0031	0.0282	0	0.0006	0.0204	0.0041	0.0109	0.0029	0.005	0.63226	D	0.025	0.60337	D	0.008	0.14655	B	0.012	0.16012	B	0.033067	0.24945	U	0.331836	0.99201	0.41532	D	2.94	0.84723	M	1.8	0.25344	T	-2.9	0.60827	D	0.4	0.44090	-1.0594	0.11905	T	0.046	0.19680	T	10	0.0033551455	0.00058	T	.	.	.	0.062	0.17934	.	.	0.0675242888579	0.06100	0.8861837634931694	0.88587	0.0410168488921	0.04401	0.481642216444	0.36283	T	0.035111	0.24699	T	-0.575825	0.00204	T	-0.598818	0.12910	T	0.0420220997220355	0.04059	T	0.50025	0.15636	T	0.24753305	0.47732	0.29166937	0.55192	0.24753305	0.47732	0.29166937	0.55191	-5.103	0.37939	T	.	.	0.104	0.24733	B	.;.	.;.	2.197060	0.28021	17.66	0.99204784752352737	0.55381	0.48273	0.28170	N	ALL	0.875120	0.79836	D	-0.54545360957274	0.20627	1.08873	-0.562489992760993	0.20475	1.103277	0.999999999986705	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	4.75	2.93	0.33092	-0.894000	0.04230	.	.	0.549000	0.26987	0.000000	0.06391	0.759000	0.26609	0.674000	0.33367	0.1728:0.5688:0.1673:0.0911	3.582	0.07507	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019467	0.025253	0.017956	0.017857	0.000000	0.054545	0.015528	0.007692	0.25	3570.0	40	chr12	55681815	.	C	T	3570.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.59;DP=308;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.31;ReadPosRankSum=-0.181;SOR=0.703	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2574,255,0	4	1	1	0
chr12	55693209	55693209	C	T	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon19:c.G1300A:p.E434K,ITGA7:NM_001144996:exon20:c.G2656A:p.E886K,ITGA7:NM_001144997:exon20:c.G2365A:p.E789K,ITGA7:NM_001374465:exon20:c.G2626A:p.E876K,ITGA7:NM_002206:exon20:c.G2644A:p.E882K,ITGA7:NM_001367993:exon21:c.G2317A:p.E773K	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	99943	not_provided|ITGA7-related_disorder|Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	.	0.0028	0.00119808	0.0040	0.0009	0.0021	0.0001	0.0009	0.0060	0.0132	0.0019	0.0038357	593	154602	rs144983062	0.0036	0.0036	0.0035	0.0037	0.0199	0.0035	0.0035	0.0170	0.0159	0.0011	0.0026	0.0282	2.519e-05	0.0007	0.0199	0.0033	0.0056	0.0027	0.0034	0.0035	0.0036	0.0032	0.0041	0.0032	0.0031	0.0036	0.0035	0.0008	0.0088	0.0041	0.0308	0	0.0005	0.0136	0.0040	0.0099	0.0023	0.099	0.30800	T	0.537	0.15746	T	0.307	0.32716	B	0.316	0.42592	B	0.030206	0.25342	N	0.401896	0.886497	0.35859	D	1.84	0.48285	L	0.78	0.49358	T	-1.8	0.42957	N	0.682	0.71942	-0.8686	0.50635	T	0.149	0.47610	T	10	0.00966835	0.00218	T	.	.	.	0.165	0.42395	.	.	0.446410834509	0.44261	0.3873274616763816	0.38647	0.553777361804	0.52138	0.650003910065	0.59987	T	0.014438	0.43425	T	-0.294246	0.09214	T	-0.194624	0.55155	T	0.023265311468717	0.01055	T	0.89671	0.63922	D	0.121053405	0.28473	0.12380122	0.29848	0.120533876	0.28361	0.1123319	0.27102	-7.277	0.57165	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	3.828538	0.55324	23.6	0.99877453271086847	0.95410	0.59895	0.31042	D	AEFGBI	0.244218	0.36536	N	0.0116875107614855	0.42385	2.552875	0.10039628931083	0.44569	2.736162	0.969611658293391	0.29142	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	2.603000	0.45930	.	.	0.545000	0.25583	0.993000	0.37899	1.000000	0.68203	0.916000	0.45140	0.0:0.8212:0.1788:0.0	11.718	0.50929	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-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	0.014602	0.020202	0.014946	0.011696	0.000000	0.043103	0.009146	0.003788	0.25	3352.0	41	chr12	55693209	.	C	T	3352.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.84;DP=299;ExcessHet=0;FS=0.766;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.8;ReadPosRankSum=0.632;SOR=0.667	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2337,234,0	4	1	1	0
chr12	56133454	56133454	G	A	exonic	ESYT1	.	nonsynonymous SNV	ESYT1:NM_001184796:exon11:c.G1282A:p.V428I,ESYT1:NM_015292:exon11:c.G1282A:p.V428I	.	.	.	.	.	.	.	.	.	.	.	2708109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00275134929484	0.0002	.	9.06e-05	0.0005	0.0002	0.0001	0	1.498e-05	0	0.0001	7.12e-05	11	154602	rs142549493	2.668e-05	2.736e-05	2.995e-05	2.338e-05	0.0006	1.997e-05	1.754e-05	0.0004	0.0003	0.0006	0.0001	0	5.038e-05	0	0	5.396e-06	3.312e-05	4.637e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.534e-05	0	0	0	0	0	0	0	0.143	0.25355	T	0.384	0.16086	T	0.004	0.15535	B	0.002	0.14300	B	0.027737	0.25711	N	0.392439	0.999721	0.20581	N	1.67	0.42885	L	2.99	0.09262	T	-0.3	0.11913	N	0.243	0.27435	-1.0149	0.25368	T	0.021	0.08870	T	10	0.0518066	0.05119	T	0.002751	0.05694	T	0.020	0.03691	.	.	0.168933306366	0.16529	0.10437847837395371	0.10367	.	.	0.488499403	0.37230	T	0.047479	0.27735	T	-0.508217	0.00514	T	-0.585827	0.14030	T	0.00994456559419632	0.00132	T	0.120988	0.02517	T	0.01733836	0.00264	0.03634245	0.03063	0.01733836	0.00264	0.03634245	0.03062	-5.988	0.46179	T	.	.	0.074	0.04889	B	.;.	.;.	2.034842	0.25866	16.91	0.94529313442569629	0.25027	0.82597	0.41802	D	AEFDBCI	0.146565	0.27005	N	-0.387326839435136	0.25920	1.410684	-0.28174258194684	0.28699	1.602204	0.999943569560243	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.51	3.61	0.40494	3.145000	0.50320	4.543000	0.43772	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.332000	0.25247	0.0:0.1609:0.6726:0.1665	9.107	0.35865	395	0.83006	C2 domain|C2 domain|Extended synaptotagmin, C2A 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	.	.	.	.	.	.	.	.	0.08333	685.83	39	chr12	56133454	.	G	A	685.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.193;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.858;SOR=0.726	GT:AD:DP:GQ:PL	0/1:36,29:65:99:696,0,892	5	0	1	0
chr12	57037948	57037948	G	C	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon18:c.C1882G:p.R628G,MYO1A:NM_001256041:exon19:c.C1882G:p.R628G	.	0	1515	7	0	0	7	0.00230491	.	.	.	175740	not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_48|MYO1A-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0011920,MedGen:C1842939,OMIM:607841,Orphanet:90635|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.820	0.352150848041	0.0015	.	0.0016	0	0.0004	0	0.0008	0.0025	0.0033	0.0008	0.001423	220	154602	rs151187460	0.0011	0.0011	0.0010	0.0012	0.0040	0.0011	0.0011	0.0027	0.0023	8.961e-05	0.0004	0.0253	0	0.0010	0.0040	0.0006	0.0019	0.0010	0.0012	0.0012	0.0012	0.0012	0.0012	0.0011	0.0010	0.0007	0.0006	4.811e-05	0	0.0005	0.0294	0	0.0008	0.0102	0.0008	0.0014	0.0012	0.001	0.78490	D	0.001	0.83351	D	0.822	0.45767	P	0.747	0.55931	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.075	0.97183	H	-3.07	0.92508	D	-6.86	0.93135	D	0.919	0.97535	1.005	0.97266	D	0.894	0.96485	D	10	0.06275889	0.08074	T	0.352151	0.92296	D	0.820	0.94238	.	.	0.968785866751	0.96844	0.8094398816263911	0.80898	0.516495157487	0.49535	0.521145105362	0.41787	T	0.856968	0.96794	D	0.169695	0.71095	D	0.420538	0.92759	D	0.178237352329982	0.19124	T	0.960204	0.84976	D	0.87879914	0.89568	0.7941477	0.87904	0.87879914	0.89569	0.7941477	0.87904	-11.708	0.83400	D	.	.	0.905	0.83772	P	.;.	.;.	4.744086	0.76536	26.5	0.99901694956992149	0.97350	0.97418	0.74624	D	AEFBI	0.862756	0.78112	D	0.786777251917161	0.85272	8.526654	0.705533799339281	0.82798	7.857393	0.999977444310092	0.50053	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	4.049000	0.57110	7.633000	0.62825	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:0.8169:0.183	11.227	0.48118	174	0.93268	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2656.06	36	chr12	57037948	.	G	C	2656.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.93;DP=362;ExcessHet=0.4139;FS=3.141;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.414;SOR=0.92	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1382,0,1406	4	0	2	0
chr12	75423012	75423012	-	A	exonic	GLIPR1L2	.	frameshift insertion	GLIPR1L2:NM_152436:exon4:c.694dupA:p.M234Nfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.253e-06	0	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs769479789	4.805e-06	1.71e-05	4.097e-06	5.52e-06	6.019e-05	2e-06	1.29e-06	9.97e-06	3.73e-06	6.019e-05	0	3.842e-05	0	0	0	9.013e-07	3.322e-05	1.173e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	908.79	38	chr12	75423012	.	G	GA	908.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.717;DP=255;ExcessHet=0;FS=0.848;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.421;SOR=0.593	GT:AD:DP:GQ:PL	0/1:37,39:76:99:919,0,904	5	0	1	0
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V,PAWR:NM_001354733:exon3:c.A577G:p.I193V,PAWR:NM_002583:exon3:c.A577G:p.I193V	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.000000	0.006793	0.008772	0.000000	0.008621	0.006098	0.026515	0.1667	1816.06	36	chr12	79621147	.	T	C	1816.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.265;DP=321;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.062;SOR=0.679	GT:AD:DP:GQ:PL	0/1:38,30:68:99:666,0,955	4	0	2	0
chr12	96247541	96247541	C	A	exonic	ELK3	.	nonsynonymous SNV	ELK3:NM_005230:exon3:c.C809A:p.S270Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0232136023906	0.0004	0.000399361	0.0002	0.0023	8.643e-05	0	0	0	0	0	0.0001811	28	154602	rs151152137	7.251e-05	7.251e-05	7.487e-05	7.013e-05	0.0025	6.114e-05	5.699e-05	0.0020	0.0019	0.0025	8.944e-05	0	0	0	0	4.496e-06	0.0002	3.478e-05	0.0007	0.0007	0.0007	0.0007	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0	1.47e-05	0.0014	0	0.012	0.54683	D	0.003	0.76473	D	0.875	0.48103	P	0.459	0.46380	P	0.043652	0.23718	N	0.517384	0.999979	0.81001	D	2.125	0.59049	M	1.39	0.33842	T	-2.14	0.48523	N	0.475	0.51048	-0.8911	0.48837	T	0.145	0.46841	T	10	0.019119024	0.00423	T	0.023214	0.46168	T	0.176	0.44373	.	.	0.679700534886	0.67698	0.6224216733167451	0.62175	0.883532630108	0.69863	0.591328561306	0.51682	T	0.410844	0.76546	T	-0.362495	0.03991	T	-0.299024	0.44828	T	0.0587276275626827	0.06967	T	0.89841	0.64469	D	0.14471139	0.33204	0.21818973	0.46512	0.14471139	0.33203	0.21818973	0.46511	-8.017	0.61186	D	.	.	0.114	0.22789	B	.	.	4.318997	0.66083	24.9	0.99330201723001665	0.59738	0.97184	0.73184	D	AEFBHCI	0.497986	0.53228	N	0.603042310914632	0.73367	5.954507	0.658473228106128	0.79241	7.041451	0.999999998447409	0.74766	0.722319	0.85440	0	0.379588	0.06130	0	0.67347	0.61138	0	0.735409	0.98432	0	.	.	5.93	5.93	0.95888	2.771000	0.47354	4.846000	0.45329	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	20.344	0.98783	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	2068.83	35	chr12	96247541	.	C	A	2068.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.224;DP=364;ExcessHet=0;FS=6.464;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.477;SOR=1.174	GT:AD:DP:GQ:PL	0/1:104,85:189:99:2079,0,2530	5	0	1	0
chr12	102039950	102039950	T	C	exonic	WASHC3	.	nonsynonymous SNV	WASHC3:NM_001301107:exon5:c.A350G:p.Q117R,WASHC3:NM_016053:exon5:c.A353G:p.Q118R	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00356606520101	.	.	4.142e-05	0	0.0002	0	0	0	0	0.0002	3.23e-05	5	154602	rs755388833	2.627e-05	2.805e-05	1.791e-05	3.469e-05	0.0002	1.953e-05	1.71e-05	0.0001	0.0001	0	0	0	0	0	0.0002	1.548e-05	3.343e-05	0.0002	1.969e-05	1.968e-05	0	4.027e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.15	0.29158	T	0.231	0.26226	T	0.236	0.30770	B	0.094	0.30180	B	0.000018	0.62929	N	0.156495	0.995119	0.42550	D	.	.	.	.	.	.	-1.8	0.45949	N	0.245	0.31253	-0.9946	0.31405	T	0.142	0.46294	T	9	0.11114544	0.20801	T	0.003566	0.08123	T	0.045	0.12272	0.451	0.51285	0.124217242631	0.12060	0.22427112875358118	0.22342	0.0542525908372	0.05997	0.412576854229	0.26814	T	0.032236	0.22396	T	-0.246029	0.14589	T	-0.354512	0.38687	T	0.171293959021568	0.18667	T	0.577942	0.20808	T	0.114315666	0.26990	0.16975637	0.39034	0.114315666	0.26990	0.16975637	0.39033	-5.011	0.36959	T	.	.	0.076	0.05935	B	.;.	.;.	2.840227	0.37468	20.5	0.99024704773886429	0.50655	0.81928	0.41237	D	AEFGBHCI	0.283356	0.39648	N	-0.131653021466196	0.36018	2.076406	0.0275237702568803	0.40998	2.455783	0.923203924649245	0.26735	0.732398	0.92422	0	0.709663	0.81188	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.82	4.67	0.58089	3.098000	0.49950	5.143000	0.47720	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0787:0.0:0.9213	9.896	0.40487	630	0.65016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1009.83	35	chr12	102039950	.	T	C	1009.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.569;DP=280;ExcessHet=0;FS=3.533;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.301;SOR=0.439	GT:AD:DP:GQ:PL	0/1:58,49:107:99:1020,0,1487	5	0	1	0
chr12	104093413	104093413	A	G	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon10:c.A1312G:p.T438A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00231345981954	.	.	8.357e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs746682588	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	2.195e-05	1.431e-05	0	0	0	0	0	0.0002	7.197e-06	6.629e-05	5.8e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.616	0.07543	T	0.0	0.02946	B	0.0	0.01387	B	0.486012	0.05009	N	1.273270	0.999983	0.18198	N	1.845	0.48678	L	4.73	0.01620	T	-0.3	0.11913	N	0.038	0.01203	-0.9125	0.46543	T	0.003	0.00864	T	10	0.04753092	0.04083	T	0.002313	0.04452	T	0.071	0.20720	0.131	0.03577	0.502047813367	0.49841	0.5486561770126567	0.54791	0.805347081922	0.66429	0.265795141459	0.05600	T	0.039453	0.25195	T	-0.420688	0.01693	T	-0.741436	0.03831	T	0.0465456104821882	0.04882	T	0.307569	0.05925	T	0.020473177	0.00607	0.028631138	0.01117	0.020473177	0.00607	0.028631138	0.01117	-4.175	0.26388	T	.	.	0.061	0.01126	B	.	.	1.289193	0.16899	12.83	0.70350442684055281	0.09267	0.30110	0.23997	N	AEFBI	0.047135	0.07904	N	-1.1343231192272	0.06041	0.2770808	-1.09197892484985	0.07857	0.3839101	7.43114506602944E-4	0.07741	0.732398	0.92422	0	0.708844	0.79440	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.58	-4.58	0.03168	0.395000	0.20576	1.057000	0.23687	0.686000	0.82685	0.817000	0.29947	0.642000	0.25920	0.854000	0.40426	0.2715:0.2223:0.1747:0.3314	0.095	0.00039	856	0.34373	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	891.83	35	chr12	104093413	.	A	G	891.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.671;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.374;SOR=0.713	GT:AD:DP:GQ:PL	0/1:40,43:83:99:902,0,951	5	0	1	0
chr12	107319379	107319379	G	T	exonic	BTBD11	.	nonsynonymous SNV	BTBD11:NM_001018072:exon1:c.G439T:p.A147S,BTBD11:NM_001347943:exon1:c.G439T:p.A147S	.	435	1083	4	0	0	4	0.00184332	.	.	.	2700976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.019971111193	.	.	0.0004	0	0	0	0	0.0006	0	0.0005	7.12e-05	11	154602	rs774078026	0.0001	0.0001	9.858e-05	0.0001	0.0009	9.621e-05	9.091e-05	0.0004	0.0002	3.055e-05	0	0	0	2.097e-05	0.0009	0.0001	0.0002	0.0003	7.224e-05	7.218e-05	8.994e-05	5.374e-05	0.0004	3.969e-05	3.126e-05	7.293e-05	3.03e-05	2.405e-05	0	0	0	0	0	0.0068	7.351e-05	0.0005	0.0004	0.005	0.65419	D	0.03	0.54159	D	0.993	0.68779	D	0.968	0.78936	D	0.000048	0.53742	D	0.070660	0.999896	0.50595	D	2.13	0.59329	M	0.92	0.44461	T	-1.27	0.41239	N	0.726	0.72746	-0.4750	0.69548	T	0.278	0.64967	T	10	0.5028427	0.61648	D	0.019971	0.42463	T	0.282	0.59981	0.542	0.65446	0.4517682171	0.44797	0.4712626190530029	0.47045	0.979502503162	0.73690	0.744501709938	0.73634	T	0.139739	0.47392	T	-0.236607	0.15786	T	-0.280087	0.46794	T	0.172704832931096	0.18762	T	0.930507	0.74459	D	0.3109064	0.53865	0.23193493	0.48340	0.3109064	0.53865	0.23193493	0.48339	-7.948	0.61247	D	.	.	0.170	0.51394	B	.;.;.	.;.;.	5.163192	0.86520	28.9	0.99499412802440301	0.67916	0.96973	0.71960	D	AEFDBCIJ	0.903209	0.85203	D	0.813223215682549	0.86925	9.044823	0.768752419276166	0.87549	9.261025	1.0	0.98316	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	4.74	4.74	0.59717	9.566000	0.97299	11.689000	0.94328	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.685	0.88159	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	0.004069	0.000000	0.005450	0.002941	0.050000	0.008621	0.003106	0.000000	0.08333	697.83	35	chr12	107319379	.	G	T	697.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.532;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.835;SOR=0.85	GT:AD:DP:GQ:PL	0/1:21,26:47:99:708,0,494	5	0	1	0
chr12	108885155	108885160	GCCTCT	-	exonic	DAO	.	nonframeshift deletion	DAO:NM_001917:exon2:c.149_154del:p.L51_W52del	.	423	1097	2	0	0	2	0.000910747	.	.	.	3212070	DAO-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0009	0	0.0008	0	0	0.0002	0	0.0053	0.0001537	4	26028	rs546485721	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	2.988e-05	0.0006	0.0014	2.521e-05	0	0.0014	4.408e-05	0.0005	0.0041	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0007	0.0017	0	0	0.0034	4.411e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2059.79	40	chr12	108885154	.	GGCCTCT	G	2059.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.259;SOR=0.654	GT:AD:DP:GQ:PL	0/1:63,55:118:99:2070,0,2479	5	0	1	0
chr12	109768674	109768674	G	A	exonic	FAM222A	.	nonsynonymous SNV	FAM222A:NM_032829:exon3:c.G745A:p.G249S	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	0.00399361	0.0026	0	0.0005	0	0	0.0001	0.0043	0.0139	0.0015265	236	154602	rs573612907	0.0007	0.0007	0.0004	0.0010	0.0102	0.0006	0.0006	0.0097	0.0095	3.005e-05	0.0002	0	0	0	0	4.693e-05	0.0008	0.0102	0.0004	0.0004	0.0003	0.0006	0.0130	0.0004	0.0003	0.0105	0.0095	4.808e-05	0	6.533e-05	0	0	0	0	2.94e-05	0	0.0130	0.787	0.03227	T	0.763	0.04587	T	0.883	0.48537	P	0.241	0.38645	B	0.230373	0.15934	N	0.551996	0.997582	0.22598	N	1.61	0.41143	L	1.56	0.29602	T	-1.1	0.28497	N	0.22	0.24634	-1.0721	0.08957	T	0.048	0.20315	T	10	0.004648328	0.00097	T	.	.	.	0.051	0.14325	.	.	0.0954503805726	0.09146	0.5463369420145531	0.54559	0.689501195314	0.60490	0.677728176117	0.63942	T	0.018111	0.14658	T	-0.527529	0.00397	T	-0.521141	0.20180	T	0.0599540318527935	0.07161	T	0.694731	0.30434	T	0.084215514	0.19483	0.09643824	0.22915	0.10024545	0.23668	0.08306939	0.19007	-3.596	0.17799	T	0.15416366932963138	0.18390	0.076	0.06114	B	.;.	.;.	3.568799	0.50251	22.9	0.99651010492632397	0.77317	0.67708	0.33531	D	AEFBI	0.187698	0.31499	N	-0.0068965812177889	0.41542	2.486703	0.0180768467717694	0.40554	2.422138	0.856265499745907	0.25139	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.1	3.1	0.34780	4.879000	0.62792	6.030000	0.52909	0.511000	0.23309	0.909000	0.31653	1.000000	0.68203	0.478000	0.28520	0.1071:0.0:0.8929:0.0	11.252	0.48264	740	0.53092	.;.	.	.	.	.	.	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	0.002026	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1163.83	34	chr12	109768674	.	G	A	1163.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.317;DP=247;ExcessHet=0;FS=0.955;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-1.04;SOR=0.557	GT:AD:DP:GQ:PL	0/1:29,43:72:99:1174,0,739	5	0	1	0
chr12	110493191	110493191	T	A	exonic	VPS29	.	nonsynonymous SNV	VPS29:NM_016226:exon3:c.A236T:p.Q79L,VPS29:NM_057180:exon4:c.A248T:p.Q83L,VPS29:NM_001282150:exon5:c.A332T:p.Q111L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0448490444346	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776592356	4.941e-06	6.156e-06	2.794e-06	7.133e-06	8.767e-05	2.06e-06	1.32e-06	4.035e-05	2.835e-05	0	0	0	0	0	0	0	0	8.767e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.35726	T	0.271	0.27325	T	0.237	0.30795	B	0.261	0.39516	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.705	0.79137	M	2.27	0.17431	T	-4.16	0.76334	D	0.68	0.79986	-1.0827	0.06833	T	0.082	0.32353	T	10	0.5048476	0.61758	D	0.044849	0.61690	D	0.255	0.56562	0.49	0.57573	0.134007934775	0.12933	0.6717054376829981	0.67108	1.21741325379	0.81012	0.798535227776	0.81740	T	0.301482	0.67393	T	-0.107805	0.35132	T	-0.200948	0.54556	T	0.7469398616623	0.43115	D	0.961304	0.85476	D	0.6257177	0.74069	0.49042925	0.70520	0.6257177	0.74070	0.49042925	0.70520	-11.025	0.79796	D	.	.	0.228	0.55631	B	.;.;.;.	.;.;.;.	4.228209	0.64011	24.7	0.99227073373685482	0.56089	0.98921	0.88653	D	AEFBI	0.895579	0.83575	D	0.390865923354712	0.60928	4.287203	0.513498674568706	0.68898	5.283915	0.999999951823282	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	8.014000	0.88267	7.915000	0.74225	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.560	0.84401	283	0.88803	Calcineurin-like phosphoesterase domain, lpxH type;.;Calcineurin-like phosphoesterase domain, lpxH type;Calcineurin-like phosphoesterase domain, lpxH 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	.	.	.	.	.	.	.	.	0.08333	1164.83	33	chr12	110493191	.	T	A	1164.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.51;DP=247;ExcessHet=0;FS=2.177;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-0.481;SOR=1.112	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1175,0,758	5	0	1	0
chr12	111362902	111362902	G	A	exonic	PHETA1	.	nonsynonymous SNV	PHETA1:NM_001177997:exon3:c.C526T:p.R176C,PHETA1:NM_144671:exon3:c.C526T:p.R176C,PHETA1:NM_001177996:exon4:c.C565T:p.R189C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.193287058618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190315116	1.177e-05	1.642e-05	1.446e-05	8.977e-06	3.219e-05	6.97e-06	5.64e-06	6e-06	4.74e-06	3.219e-05	3.018e-05	0	0	0	0	1.125e-05	0	2.687e-05	2.63e-05	2.627e-05	1.285e-05	4.037e-05	6.551e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.941e-05	0.0005	0	0.043	0.41364	D	0.026	0.55759	D	0.013	0.16609	B	0.001	0.04355	B	.	.	.	.	0.998673	0.45259	D	1.24	0.30952	L	1.45	0.32482	T	-1.8	0.42384	N	0.123	0.12770	-1.0445	0.15971	T	0.046	0.19839	T	9	0.13128969	0.24987	T	0.193287	0.86294	D	0.020	0.03691	0.324	0.30549	0.297718772494	0.29385	0.18476738781075613	0.18394	0.593637700263	0.54702	0.636722207069	0.58098	T	0.006532	0.05961	T	-0.214183	0.18794	T	-0.545436	0.17767	T	0.252397686243057	0.22980	T	0.523848	0.17156	T	0.07715228	0.17493	0.05571404	0.09825	0.07715228	0.17492	0.05571404	0.09825	-5.148	0.39774	T	.	.	0.178	0.38800	B	.;.;.	.;.;.	2.255631	0.28814	17.92	0.98651384872707759	0.44192	0.14603	0.18490	N	AEFDBI	0.035987	0.04722	N	-0.750565329437608	0.14617	0.7296701	-0.76062843076045	0.15462	0.8132909	0.99948083070677	0.39952	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.03	2.1	0.26226	1.894000	0.39401	0.828000	0.21920	0.588000	0.31329	0.985000	0.35982	0.001000	0.17328	0.490000	0.28791	0.1411:0.0:0.8589:0.0	7.305	0.25616	620	0.66037	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	582.83	33	chr12	111362902	.	G	A	582.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.42;DP=175;ExcessHet=0;FS=4.151;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.117;SOR=0.718	GT:AD:DP:GQ:PL	0/1:6,21:27:99:593,0,99	5	0	1	0
chr12	118019131	118019131	G	A	exonic	RFC5	.	nonsynonymous SNV	RFC5:NM_001206801:exon2:c.G125A:p.S42N,RFC5:NM_007370:exon2:c.G125A:p.S42N,RFC5:NM_001130113:exon3:c.G62A:p.S21N,RFC5:NM_181578:exon3:c.G62A:p.S21N	.	.	.	.	.	.	.	.	.	.	.	3905730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00714012998972	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368899386	1.372e-06	4.104e-06	2.731e-06	0	2.993e-05	2.3e-07	9e-08	.	.	2.993e-05	0	0	0	0	0	9.02e-07	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.092	0.31682	T	0.168	0.30631	T	0.004	0.12183	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.22	0.30592	L	1.01	0.41058	T	-1.2	0.30555	N	0.582	0.60325	-1.0765	0.08043	T	0.085	0.33213	T	10	0.25404578	0.42778	T	0.00714	0.18924	T	0.032	0.07718	0.255	0.19533	0.383590876969	0.37966	0.6126360726243595	0.61195	0.367650483575	0.38325	0.763191998005	0.76406	T	0.024573	0.45073	T	-0.159931	0.26770	T	-0.467506	0.25786	T	0.789899945259094	0.45682	D	0.845715	0.52486	T	0.2136978	0.43755	0.17248176	0.39506	0.2136978	0.43755	0.17248176	0.39505	-6.159	0.47590	T	.	.	0.098	0.30555	B	.;.;.;.;.	.;.;.;.;.	2.961709	0.39448	21.0	0.98936450498209838	0.48845	0.92742	0.56435	D	AEFBCI	0.812104	0.73492	D	-0.00417397639768921	0.41667	2.496327	0.187314474781923	0.49151	3.121809	0.999999997660231	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	6.887000	0.75425	6.649000	0.56209	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.758	0.85364	961	0.08552	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1696.04	35	chr12	118019131	.	G	A	1696.04	.	AC=2;AF=0.167;AN=12;DP=224;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32;SOR=0.981	GT:AD:DP:GQ:PL	1/1:0,53:53:99:1716,159,0	5	1	0	0
chr12	120739317	120739317	A	G	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.A1108G:p.M370V,ACADS:NM_001302554:exon10:c.A1096G:p.M366V	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	200245	Deficiency_of_butyryl-CoA_dehydrogenase|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.923	.	.	0.00319489	0.0022	0	0.0002	0	0.0002	0.0002	0.0070	0.0143	0.0018564	287	154602	rs566325901	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	5.975e-05	0.0001	0.0001	0	9.547e-05	0.0031	0.0002	0.0008	0.0128	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0001	0	0	0	0	0.0001	0	0.0145	0.051	0.53172	T	0.028	0.54934	D	0.818	0.45651	P	0.291	0.40706	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-3.85	0.95859	D	-3.83	0.72120	D	0.948	0.95608	0.656	0.92626	D	0.764	0.91953	D	10	0.028777868	0.01008	T	.	.	.	0.923	0.98079	.	.	0.970739665433	0.97042	0.9502718581226505	0.95010	0.770922189815	0.64756	0.717661619186	0.69705	T	0.875532	0.97347	D	0.157138	0.69935	D	0.463972	0.93882	D	0.0599859771721227	0.07166	T	0.983668	0.94607	D	0.7723314	0.82188	0.6916848	0.81856	0.82393956	0.85488	0.72276574	0.83629	-7.831	0.59913	D	0.5274915690359021	0.59883	0.162	0.35705	B	.;.	.;.	4.633774	0.73696	26.0	0.99358178166899647	0.60904	0.98346	0.81852	D	AEFDBI	0.964973	0.98721	D	0.374761369312287	0.60058	4.190697	0.432990466616109	0.63633	4.60088	0.999996781295101	0.74766	0.700653	0.57754	0	0.643519	0.57511	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	8.964000	0.92969	11.132000	0.86827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.260	0.65626	503	0.75780	Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.1667	3170.04	34	chr12	120739317	.	A	G	3170.04	.	AC=2;AF=0.167;AN=12;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.56;SOR=0.711	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3190,333,0	5	1	0	0
chr12	132690316	132690316	G	A	exonic	PXMP2	.	nonsynonymous SNV	PXMP2:NM_018663:exon2:c.G176A:p.R59Q	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.026390441038	.	0.000199681	2.471e-05	9.61e-05	0	0	0	1.499e-05	0	6.056e-05	2.59e-05	4	154602	rs200781916	6.362e-05	6.362e-05	6.807e-05	5.913e-05	0.0021	5.295e-05	4.911e-05	0.0017	0.0016	0	0	3.826e-05	0.0021	1.872e-05	0.0002	2.698e-06	1.656e-05	3.478e-05	9.206e-05	9.19e-05	9.001e-05	9.419e-05	0.0014	5.531e-05	4.368e-05	0.0006	0.0005	0.0002	0	0	0	0.0014	0	0	0	0	0	0.408	0.10212	T	0.453	0.21343	T	0.026	0.19406	B	0.005	0.11217	B	0.506181	0.11894	N	0.766695	0.992911	0.40796	N	0.735	0.18861	N	-2.55	0.89561	D	-0.69	0.29114	N	0.101	0.14622	-0.7068	0.60110	T	0.410	0.75845	T	10	0.02087158	0.00489	T	0.02639	0.49300	D	0.146	0.38789	0.384	0.40298	0.331619326243	0.32766	0.09177149568279447	0.09110	0.0772187619587	0.08676	0.215164005756	0.01049	T	0.097038	0.39945	T	-0.22286	0.17603	T	-0.376372	0.36146	T	0.0357024520635605	0.02929	T	0.727127	0.34152	T	0.025595648	0.01516	0.035269886	0.02747	0.025595648	0.01516	0.035269886	0.02746	-5.06	0.37484	T	0.11624727004306265	0.10489	0.079	0.07272	B	.;.	.;.	0.882059	0.12550	9.082	0.91514712189660685	0.20790	0.03938	0.09333	N	AEFBI	0.243707	0.36494	N	-0.990339765773234	0.08809	0.4144772	-0.959261198235233	0.10708	0.5410898	0.999619138119039	0.40981	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.92	-0.415	0.11739	-0.238000	0.08995	0.195000	0.15787	-0.113000	0.14837	0.021000	0.19753	0.000000	0.08366	0.882000	0.42233	0.4304:0.0:0.5696:0.0	9.068	0.35637	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	.	.	.	.	.	.	.	.	0.08333	591.83	33	chr12	132690316	.	G	A	591.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.113;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=-0.381;SOR=0.646	GT:AD:DP:GQ:PL	0/1:32,27:59:99:602,0,754	5	0	1	0
chr13	24321233	24321233	C	A	exonic	C1QTNF9	.	nonsynonymous SNV	C1QTNF9:NM_001303138:exon4:c.C467A:p.P156H,C1QTNF9:NM_178540:exon4:c.C467A:p.P156H,C1QTNF9:NM_001303137:exon5:c.C467A:p.P156H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.24551328678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.379e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.811e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.054	0.38633	T	0.027	0.55341	D	0.999	0.77913	D	0.993	0.81110	D	0.000005	0.62929	D	0.109676	0.99993	0.81001	D	1.975	0.53506	M	-2.28	0.87512	D	-2.98	0.62008	D	0.348	0.38950	0.262	0.86949	D	0.685	0.89121	D	9	0.52603954	0.62914	D	0.245513	0.88889	D	0.488	0.77592	0.412	0.44887	0.800752677042	0.79889	0.6508861261317139	0.65024	.	.	0.625718355179	0.56537	T	0.599164	0.87128	D	0.121418	0.66515	D	-0.0633678	0.66097	T	0.948267996311188	0.62857	D	0.794321	0.43637	T	0.38376608	0.59588	0.28586867	0.54592	0.38376608	0.59588	0.28586867	0.54591	-6.768	0.52321	T	.	.	0.135	0.29422	B	.;.	.;.	3.789396	0.54528	23.5	0.98957213183316428	0.49266	0.94950	0.62896	D	AEFDI	0.526346	0.54874	D	0.147336141463932	0.48686	3.077862	-0.00515996726282916	0.39482	2.341621	0.971459848848297	0.29288	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.96	3.11	0.34883	2.381000	0.43991	3.193000	0.36713	0.439000	0.21057	0.758000	0.29220	0.995000	0.32472	0.024000	0.12247	0.0:0.8019:0.0:0.1981	7.636	0.27435	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	61.0	35	chr13	24321233	.	C	A	61.0	.	AC=2;AF=0.167;AN=12;DP=112;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=30.39;QD=30.5;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:24321233_C_A:76,6,0:24321233	5	1	0	0
chr13	35171273	35171273	C	T	exonic	NBEA	.	nonsynonymous SNV	NBEA:NM_001379245:exon25:c.C4235T:p.T1412M,NBEA:NM_001385012:exon26:c.C4244T:p.T1415M,NBEA:NM_015678:exon26:c.C4244T:p.T1415M	.	432	1086	4	0	0	4	0.00183824	0.0065	0.058	.	2813833	not_provided|NBEA-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00920038457388	0.0006	0.000399361	0.0008	0.0002	0.0025	0	0	0.0005	0	0.0017	0.0006339	98	154602	rs201205330	0.0006	0.0006	0.0006	0.0006	0.0018	0.0005	0.0005	0.0015	0.0013	6.047e-05	0.0018	3.887e-05	0	0.0001	0.0011	0.0005	0.0006	0.0016	0.0005	0.0005	0.0005	0.0004	0.0019	0.0004	0.0003	0.0010	0.0007	0.0002	0	0.0002	0	0	0	0	0.0007	0	0.0019	0.028	0.46129	D	0.18	0.43913	T	0.089	0.25085	B	0.007	0.16012	B	0.000004	0.62929	D	0.104768	0.988503	0.40776	D	1.04	0.26193	L	0.7	0.51474	T	-1.62	0.42957	N	0.353	0.39457	-1.0081	0.27510	T	0.112	0.40145	T	10	0.011654615	0.00298	T	0.009	0.24177	T	0.049	0.13647	.	.	0.082315109003	0.07666	0.5756835672972415	0.57497	0.286609179392	0.31053	0.768053889275	0.77133	T	0.183	0.53560	T	-0.452513	0.01091	T	-0.430043	0.29930	T	0.0196598496189053	0.00669	T	0.872513	0.71716	D	0.12861371	0.30062	0.1627584	0.37791	0.12861371	0.30062	0.1627584	0.37790	-6.482	0.50147	T	0.10605313297357434	0.08479	0.084	0.09530	B	.;.;.;.	.;.;.;.	4.393026	0.67818	25.1	0.96473609191300369	0.29946	0.95833	0.66349	D	AEFI	0.644391	0.62066	D	0.0121177794040695	0.42405	2.554428	0.19894044697837	0.49790	3.178003	0.563918644401705	0.21436	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.28	5.28	0.74118	2.878000	0.48213	4.889000	0.45745	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.257	0.93938	935	0.14827	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.1667	882.06	31	chr13	35171273	.	C	T	882.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.707;DP=215;ExcessHet=0.4139;FS=16.512;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.73;SOR=0.091	GT:AD:DP:GQ:PL	0/1:23,10:33:99:234,0,618	4	0	2	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	157.15	143	chr13	38859428	.	G	C	157.15	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.469;DP=678;ExcessHet=0.4139;FS=228.055;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.96;SOR=10.236	GT:AD:DP:GQ:PL	0/1:90,32:132:14:14,0,1748	4	0	2	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1267.52	115	chr13	42303097	.	G	C	1267.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.834;DP=634;ExcessHet=6.1542;FS=339.863;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=0.639;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,36:104:99:0|1:42303097_G_C:350,0,1635:42303097	1	0	5	0
chr13	45549921	45549921	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon13:c.A1618G:p.T540A	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	0.0031	0.00159744	0.0054	0.0005	0	0	0	0.0120	0	0.0015	0.0014942	231	154602	rs138019495	0.0046	0.0044	0.0046	0.0045	0.0137	0.0045	0.0044	0.0112	0.0103	0.0007	0.0050	0.0338	0	0.0003	0.0137	0.0044	0.0060	0.0018	0.0032	0.0032	0.0035	0.0029	0.0041	0.0030	0.0029	0.0037	0.0036	0.0007	0	0.0036	0.0288	0	0	0.0102	0.0041	0.0071	0.0010	0.026	0.46910	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.997368	0.22689	N	2.365	0.68172	M	2.83	0.10771	T	-2.79	0.59059	D	0.616	0.63204	-1.0875	0.05960	T	0.049	0.21026	T	9	0.008849382	0.00200	T	.	.	.	0.156	0.40720	.	.	0.238705975628	0.23479	0.44365976478026536	0.44283	.	.	0.385409414768	0.23020	T	0.021439	0.16695	T	-0.456514	0.01033	T	-0.427023	0.30274	T	0.030507663835992	0.02067	T	0.439356	0.12115	T	0.22631073	0.45309	0.246806	0.50198	0.22631073	0.45309	0.246806	0.50197	-7.945	0.60694	D	.	.	0.201	0.42506	B	.	.	3.981063	0.58523	24.0	0.99785391619804342	0.87131	0.95332	0.64308	D	AEFBI	0.475758	0.51946	N	0.642509673075055	0.75883	6.385696	0.643250272920954	0.78111	6.810606	0.981287287864448	0.30242	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.69	5.69	0.88346	2.942000	0.48711	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.338	0.54406	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014963	0.026596	0.009091	0.030702	0.000000	0.045455	0.000000	0.000000	0.08333	1016.83	36	chr13	45549921	.	T	C	1016.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.84;DP=267;ExcessHet=0;FS=1.871;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.976;SOR=0.481	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1027,0,988	5	0	1	0
chr13	46343446	46343446	C	G	exonic	RUBCNL	.	nonsynonymous SNV	RUBCNL:NM_001286762:exon13:c.G1774C:p.G592R,RUBCNL:NM_001286766:exon13:c.G1283C:p.R428P,RUBCNL:NM_001286764:exon14:c.G1523C:p.R508P,RUBCNL:NM_001286765:exon14:c.G1457C:p.R486P,RUBCNL:NM_001349772:exon14:c.G1928C:p.R643P,RUBCNL:NM_001286761:exon15:c.G1928C:p.R643P,RUBCNL:NM_001286763:exon15:c.G1727C:p.R576P,RUBCNL:NM_025113:exon15:c.G1928C:p.R643P	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.227258518346	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297164782	6.842e-06	6.84e-06	5.445e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	0	0.0002	4.497e-06	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	7.243e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.024	0.58089	D	0.998	0.90584	D	0.992	0.80445	D	.	.	.	.	0.505035	0.81001	D	.	.	.	0.7	0.51474	T	-4.55	0.83027	D	0.497	0.59563	-0.5455	0.66956	T	0.277	0.64875	T	9	0.62551105	0.68219	D	0.227259	0.88082	D	0.341	0.66297	0.485	0.56780	0.390531646278	0.38663	0.8945300845186224	0.89424	0.215774892835	0.24110	0.416441738605	0.27347	T	0.198377	0.55534	T	-0.0672852	0.41760	T	-0.0977585	0.63570	T	0.470695044801152	0.31557	T	0.89921	0.65583	D	0.6085781	0.73152	0.61522907	0.77604	0.6085781	0.73153	0.61522907	0.77605	-11.543	0.83466	D	.	.	0.898	0.85512	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.430320	0.68699	25.3	0.99285952317960202	0.58078	0.70624	0.34667	D	AEFBCI	0.658566	0.62979	D	0.264332412206489	0.54351	3.600926	0.151937686969784	0.47246	2.957635	0.999943194839993	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	5.55	3.8	0.42887	1.294000	0.32971	3.849000	0.40079	-0.188000	0.09543	0.936000	0.32490	0.999000	0.35428	0.083000	0.17415	0.0:0.6286:0.1616:0.2098	5.558	0.16412	906	0.23090	Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;Putative zinc-RING and/or ribbon|Putative zinc-RING and/or ribbon;.;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	.	.	.	.	.	.	.	.	0.08333	1238.83	34	chr13	46343446	.	C	G	1238.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=268;ExcessHet=0;FS=0.816;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-2.037;SOR=0.564	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1249,0,1006	5	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	490.96	102	chr13	69882456	.	G	A	490.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.995;DP=617;ExcessHet=3.1439;FS=210.877;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=0.597;SOR=10.694	GT:AD:DP:GQ:PL	0/1:63,50:113:99:220,0,925	2	0	4	0
chr13	72760551	72760551	C	T	exonic	DIS3	.	nonsynonymous SNV	DIS3:NM_001322348:exon19:c.G2402A:p.R801Q,DIS3:NM_001128226:exon20:c.G2681A:p.R894Q,DIS3:NM_014953:exon20:c.G2771A:p.R924Q,DIS3:NM_001322349:exon21:c.G2285A:p.R762Q	.	.	.	.	.	.	.	.	.	.	.	4130283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0129278433126	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs762557093	3.422e-06	3.42e-06	4.085e-06	2.751e-06	2.989e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.989e-05	0	0	2.524e-05	0	0	2.699e-06	0	0	1.315e-05	1.314e-05	2.571e-05	0	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0.0005	0	0.607	0.06049	T	0.67	0.07816	T	0.376	0.40395	B	0.057	0.32387	B	0.000001	0.62929	D	0.057722	0.999995	0.58761	D	1.77	0.45869	L	1.97	0.22067	T	-0.78	0.21644	N	0.245	0.31702	-1.0967	0.04514	T	0.038	0.16462	T	10	0.17346686	0.32174	T	0.012928	0.31926	T	0.088	0.25558	0.487	0.57098	0.32471235697	0.32085	0.6930185785301365	0.69241	0.154777791857	0.17480	0.459328114986	0.33218	T	0.008321	0.09890	T	-0.285865	0.10055	T	-0.479273	0.24524	T	0.363957080411684	0.27563	T	0.949505	0.80559	D	0.16061103	0.36013	0.16256398	0.37756	0.16061103	0.36013	0.16256398	0.37755	-2.836	0.08520	T	0.10107665430532256	0.07531	0.105	0.30211	B	.;.;.	.;.;.	3.458935	0.48198	22.6	0.97451408330130807	0.34033	0.97430	0.74700	D	AEFGBI	0.642974	0.61975	D	0.0223856155532419	0.42874	2.591576	0.164992516396101	0.47943	3.016999	0.999999968074088	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.8	4.95	0.64894	4.461000	0.59851	5.947000	0.51581	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9316:0.0:0.0684	14.970	0.70875	928	0.17405	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1063.83	33	chr13	72760551	.	C	T	1063.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.63;DP=245;ExcessHet=0;FS=3.584;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.21;SOR=1.261	GT:AD:DP:GQ:PL	0/1:28,42:70:99:1074,0,612	5	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	0.08333	1880.83	44	chr13	110186475	.	G	A	1880.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.769;DP=380;ExcessHet=0;FS=0.56;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.009;SOR=0.751	GT:AD:DP:GQ:PL	0/1:95,78:173:99:1891,0,2476	5	0	1	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5162.16	204	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	*	5162.16	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.309;DP=697;ExcessHet=0.7136;FS=1.819;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=1.22;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,83:140:99:0|1:112547505_C_T:3241,0,2037:112547505	4	0	2	0
chr14	18967973	18967973	A	G	exonic	POTEM	.	nonsynonymous SNV	POTEM:NM_001145442:exon1:c.A488G:p.D163G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00140141947623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.07140	T	0.678	0.06147	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.15	0.38236	T	-1.14	0.29323	N	0.147	0.14905	-0.9637	0.38468	T	0.021	0.09056	T	9	0.060992032	0.07580	T	0.001401	0.02062	T	.	.	0.493	0.58048	0.0138822411134	0.00435	0.07455446641056031	0.07391	.	.	0.702951908112	0.67571	T	0.001657	0.01084	T	-0.261024	0.12779	T	-0.61272	0.11765	T	0.0664081357097046	0.08138	T	0.435556	0.11926	T	0.042447716	0.06440	0.089846745	0.21033	0.042447716	0.06440	0.089846745	0.21033	-9.415	0.70329	D	.	.	0.092	0.13644	B	.	.	0.589247	0.09576	6.352	0.64720985066413428	0.07572	0.01421	0.04793	N	AEFI	0.031153	0.03271	N	-1.38691289955028	0.02759	0.1223219	-1.36622744845366	0.03618	0.1691438	2.15982679078891E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	1.27	0.20595	0.175000	0.16577	.	.	-0.570000	0.04786	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	1.0:0.0:0.0:0.0	4.725	0.12314	.	.	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	.	.	.	.	.	.	.	.	0.1667	1961.08	40	chr14	18967973	.	A	G	1961.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.91;DP=398;ExcessHet=0.4139;FS=3.209;MLEAC=2;MLEAF=0.167;MQ=30.21;MQRankSum=1.63;QD=6.45;ReadPosRankSum=-0.086;SOR=0.465	GT:AD:DP:GQ:PL	0/1:69,45:114:99:960,0,1716	4	0	2	0
chr14	23042637	23042637	C	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.C412A:p.Q138K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00356382902211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.698	0.05767	T	0.001	0.07471	B	0.003	0.08700	B	0.036524	0.24511	N	0.424528	0.999424	0.21215	N	0.59	0.15444	N	2.09	0.20122	T	-1.38	0.34198	N	0.047	0.01911	-1.0138	0.25720	T	0.027	0.11751	T	10	0.09179452	0.16110	T	0.003564	0.08123	T	0.030	0.07022	0.452	0.51448	0.177238962908	0.17366	0.5947479257585905	0.59404	0.169534834163	0.19113	0.291800320148	0.09185	T	0.065486	0.32701	T	-0.362662	0.03981	T	-0.758716	0.03159	T	0.102845650893272	0.12667	T	0.791621	0.43272	T	0.15138741	0.34418	0.09448894	0.22367	0.15138741	0.34418	0.09448894	0.22366	-4.575	0.31856	T	.	.	0.094	0.14614	B	.	.	1.007744	0.13867	10.42	0.93530260200876147	0.23352	0.55846	0.29967	D	AEFDBCI	0.176338	0.30354	N	-0.6535157266157	0.17357	0.8925088	-0.540072012869009	0.21070	1.138098	0.999999378859792	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.596394	0.31383	0	0.613276	0.41899	0	.	.	5.24	2.38	0.28415	2.260000	0.42923	0.031000	0.13732	0.599000	0.40250	0.007000	0.17678	0.000000	0.08366	0.892000	0.42986	0.0:0.5898:0.2596:0.1506	7.258	0.25362	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	146.83	38	chr14	23042637	.	C	A	146.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.287;DP=383;ExcessHet=0;FS=107.36;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.512;SOR=6.993	GT:AD:DP:GQ:PL	0/1:153,32:185:99:157,0,4162	5	0	1	0
chr14	24409496	24409496	C	G	exonic	NYNRIN	.	nonsynonymous SNV	NYNRIN:NM_025081:exon4:c.C1702G:p.P568A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00482511912595	.	.	8.832e-06	0	0	0	0	0	0	6.467e-05	6.5e-06	1	154602	rs762894342	4.79e-06	4.788e-06	2.723e-06	6.878e-06	4.64e-05	1.99e-06	1.28e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.995e-07	3.313e-05	4.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.007	0.14184	B	0.004	0.10090	B	.	.	.	.	0.99948	0.21117	N	0.895	0.22405	L	2.76	0.11515	T	-1.19	0.30346	N	0.127	0.12055	-0.9740	0.36344	T	0.017	0.07187	T	9	0.054195464	0.05731	T	0.004825	0.12066	T	0.060	0.17295	0.402	0.43245	0.0986583533028	0.09354	0.12694952059310854	0.12620	0.188238644464	0.21156	0.265533924103	0.05568	T	0.017366	0.14179	T	-0.349369	0.04767	T	-0.638991	0.09743	T	0.0304478313946	0.02060	T	0.485551	0.14815	T	0.0482735	0.08386	0.04784695	0.06980	0.0482735	0.08386	0.04784695	0.06980	-6.213	0.48028	T	.	.	0.067	0.02518	B	.	.	1.591626	0.20356	14.71	0.93457918377650606	0.23243	0.30189	0.24018	N	AEFBI	0.060105	0.11399	N	-0.832522542244069	0.12484	0.6088217	-0.857284750410954	0.13113	0.6784326	0.992889777981219	0.33004	0.719381	0.83141	0	0.563428	0.19063	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.53	0.496	0.16103	0.109000	0.15252	0.433000	0.18345	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.371000	0.26133	0.145:0.5463:0.141:0.1678	2.951	0.05504	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	2085.83	33	chr14	24409496	.	C	G	2085.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.34;DP=341;ExcessHet=0;FS=0.588;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.461;SOR=0.754	GT:AD:DP:GQ:PL	0/1:80,76:156:99:2096,0,2352	5	0	1	0
chr14	32600736	32600736	G	A	exonic	AKAP6	.	nonsynonymous SNV	AKAP6:NM_004274:exon7:c.G2674A:p.E892K	.	424	1065	32	1	0	34	0.0157116	.	.	.	702857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0091	0.00299521	0.0071	0.0012	0.0052	0.0001	0.0015	0.0111	0.0055	0.0018	0.0070698	1093	154602	rs34572259	0.0085	0.0085	0.0085	0.0084	0.0133	0.0084	0.0083	0.0109	0.0100	0.0017	0.0058	0.0191	5.04e-05	0.0016	0.0133	0.0096	0.0097	0.0023	0.0062	0.0062	0.0068	0.0056	0.0099	0.0059	0.0057	0.0093	0.0090	0.0013	0.0011	0.0070	0.0187	0.0002	0.0012	0.0238	0.0099	0.0052	0.0019	0.005	0.63226	D	0.027	0.58089	D	1.0	0.90584	D	0.986	0.76916	D	0.000038	0.55875	D	0.074651	0.577939	0.32350	D	0.695	0.17993	N	3.4	0.19450	T	-0.91	0.29323	N	0.725	0.76203	-0.9896	0.32702	T	0.047	0.20077	T	10	0.009763002	0.00219	T	.	.	.	0.131	0.35738	.	.	0.459974577466	0.45620	0.4104450211692473	0.40960	0.0771311899759	0.08663	0.735888004303	0.72368	T	0.17017	0.51782	T	-0.506004	0.00529	T	-0.490221	0.23368	T	0.0347308637286346	0.02762	T	0.835416	0.51562	T	0.22084916	0.44649	0.22094502	0.46887	0.22084916	0.44649	0.22094502	0.46886	-9.329	0.72742	D	.	.	0.100	0.17232	B	.;.;.	.;.;.	4.541604	0.71388	25.7	0.99883674826507607	0.95892	0.83575	0.42683	D	AEFDBI	0.220216	0.34500	N	0.272256118490707	0.54747	3.639588	0.265175929667817	0.53517	3.520271	0.999994986649258	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	5.18	3.3	0.36912	3.694000	0.54474	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0722:0.1326:0.7952:0.0	10.690	0.45058	607	0.67291	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.016129	0.035354	0.016304	0.005848	0.000000	0.017241	0.021472	0.003788	0.1667	2287.06	33	chr14	32600736	.	G	A	2287.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.777;DP=356;ExcessHet=0.4139;FS=1.051;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.016;SOR=0.601	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1006,0,1155	4	0	2	0
chr14	45175375	45175375	T	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon13:c.T2543C:p.I848T,FANCM:NM_020937:exon14:c.T2621C:p.I874T	.	.	.	.	.	.	.	.	.	.	.	841438	not_provided|Fanconi_anemia	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00084438953799	.	.	8.455e-06	0	8.721e-05	0	0	0	0	0	6.5e-06	1	154602	rs774139592	2.271e-05	2.258e-05	1.272e-05	3.279e-05	0.0004	1.643e-05	1.406e-05	6.315e-05	3.62e-05	0	0	0	0	0	0.0004	1.942e-05	1.716e-05	0.0001	1.97e-05	1.969e-05	1.285e-05	2.686e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0	0	0.086	0.32610	T	0.369	0.44501	T	0.097	0.25541	B	0.016	0.17743	B	0.010839	0.01288	N	2.246270	1	0.08975	N	0	0.06538	N	2.86	0.17596	T	-0.93	0.27669	N	0.177	0.19055	-1.0204	0.23584	T	0.021	0.08870	T	10	0.07447937	0.11390	T	8.44E-4	0.00713	T	0.036	0.09122	.	.	0.221734844693	0.21761	0.061482601137988716	0.06088	0.108240947712	0.12206	0.31266862154	0.12310	T	0.05135	0.28854	T	-0.423366	0.01629	T	-0.728461	0.04398	T	0.0658603724887803	0.08058	T	0.525647	0.17278	T	0.04033274	0.05739	0.03454563	0.02541	0.04033274	0.05738	0.03454563	0.02541	-3.841	0.21418	T	.	.	0.102	0.23675	B	.;.;.	.;.;.	-0.238364	0.02900	0.417	0.69690805168179526	0.09053	0.03479	0.08641	N	AEBI	0.059058	0.11125	N	-1.04428782386425	0.07700	0.3586068	-1.04482107633448	0.08815	0.435285	0.0416875949627673	0.14494	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.97	1.0	0.18999	-0.659000	0.05423	-0.218000	0.10790	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.2459:0.1144:0.1609:0.4788	0.777	0.00968	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.1667	2658.06	34	chr14	45175375	.	T	C	2658.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.145;DP=336;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=2.2;SOR=0.668	GT:AD:DP:GQ:PL	0/1:37,44:81:99:1182,0,1007	4	0	2	0
chr14	52029681	52029681	T	C	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon10:c.A2267G:p.D756G	.	427	1049	44	2	0	48	0.0223672	.	.	.	714155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.175	0.0298600810484	0.0064	0.00219649	0.0056	0.0018	0.0069	0	0.0014	0.0078	0.0044	0.0029	0.0057114	883	154602	rs150908602	0.0076	0.0077	0.0076	0.0075	0.0162	0.0075	0.0074	0.0135	0.0125	0.0014	0.0071	0.0196	2.519e-05	0.0011	0.0162	0.0084	0.0072	0.0032	0.0056	0.0056	0.0062	0.0051	0.0077	0.0053	0.0052	0.0072	0.0070	0.0020	0	0.0077	0.0245	0	0.0013	0.0204	0.0077	0.0071	0.0027	0.356	0.12070	T	0.319	0.19188	T	0.0	0.02946	B	0.001	0.04355	B	0.946080	0.08320	N	0.978805	1	0.08975	N	1.085	0.27262	L	-1.88	0.84487	D	-0.25	0.11008	N	0.103	0.10769	-0.8730	0.50302	T	0.285	0.65734	T	10	0.0043874383	0.00089	T	0.02986	0.52286	D	0.175	0.44197	.	.	0.611077749297	0.60794	0.38317757421189813	0.38232	0.120734834091	0.13598	0.273806035519	0.06642	T	0.06502	0.32582	T	-0.390793	0.02658	T	-0.323736	0.42164	T	0.000971250761758706	0.00009	T	0.573543	0.20534	T	0.056617737	0.11161	0.042697497	0.05145	0.056617737	0.11161	0.042697497	0.05144	-3.27	0.13353	T	.	.	0.088	0.13923	B	.;.	.;.	0.288210	0.06644	3.145	0.92819811633804061	0.22348	0.05710	0.11632	N	AEFBI	0.083509	0.16918	N	-1.08950251002837	0.06835	0.3158111	-1.12361186562099	0.07250	0.3519886	0.999639889020145	0.41205	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.563494	0.21769	0	.	.	5.68	-1.15	0.09211	0.065000	0.14336	-0.308000	0.10061	0.660000	0.55035	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.0:0.1963:0.3601:0.4436	6.380	0.20735	896	0.25515	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Likely benign	0	0	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	0.017623	0.005051	0.029891	0.011696	0.000000	0.034483	0.015244	0.011364	0.08333	2128.83	97	chr14	52029681	.	T	C	2128.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.46;DP=665;ExcessHet=0;FS=1.525;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=1.44;SOR=0.91	GT:AD:DP:GQ:PL	0/1:68,71:139:99:2139,0,1816	5	0	1	0
chr14	55010375	55010375	C	T	exonic	WDHD1	.	nonsynonymous SNV	WDHD1:NM_007086:exon4:c.G275A:p.R92H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.138161929255	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775370465	3.833e-05	4.036e-05	3.677e-05	3.99e-05	6.967e-05	3.027e-05	2.72e-05	3.344e-05	2.957e-05	0	0	0	0	3.745e-05	0	4.318e-05	0	6.967e-05	3.287e-05	3.284e-05	5.142e-05	1.346e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0.0002	0	0	5.881e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	5.03	0.80899	T	-4.64	0.82221	D	0.735	0.73555	0.538	0.91066	D	0.712	0.90108	D	10	0.8235682	0.81546	D	0.138162	0.82066	D	0.536	0.80545	0.619	0.75347	0.93371648204	0.93303	0.4475210251334324	0.44670	0.306553085064	0.32958	0.787533164024	0.80067	T	0.147252	0.48525	T	0.289347	0.82102	D	0.193336	0.82758	D	0.99904066324234	0.95989	D	0.952805	0.89317	D	0.7278452	0.79602	0.49716204	0.70923	0.7278452	0.79603	0.49716204	0.70924	-13.406	0.90966	D	.	.	0.811	0.77797	P	.;.	.;.	5.230146	0.87791	29.4	0.99932562117508938	0.99439	0.98953	0.89101	D	AEFDBI	0.869588	0.79018	D	0.847273330292301	0.88951	9.776179	0.811001188809799	0.90549	10.45763	0.999999995423652	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.45	5.45	0.79688	7.302000	0.78184	5.888000	0.50725	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.294	0.94099	720	0.55521	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	398.83	26	chr14	55010375	.	C	T	398.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.586;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-1.288;SOR=0.701	GT:AD:DP:GQ:PL	0/1:21,19:40:99:409,0,487	5	0	1	0
chr14	56580050	56580050	C	A	exonic	TMEM260	.	nonsynonymous SNV	TMEM260:NM_017799:exon1:c.C136A:p.P46T	.	.	.	.	.	.	.	.	.	.	.	3210054	TMEM260-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.270	.	.	0.00159744	0.0032	0	0	0.0359	0	0	0	0	0.0003881	60	154602	rs201059587	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0060	0.0057	0	0	0	0.0069	0	0	3.903e-05	0.0002	0.0004	0.0004	0.0004	0.0003	0.0004	0.0100	0.0003	0.0003	0.0079	0.0071	0	0	0	0	0.0100	0	0	2.94e-05	0	0.0002	0.03	0.45393	D	0.276	0.21947	T	0.455	0.36245	P	0.193	0.36509	B	0.000383	0.44960	D	0.148595	1	0.81001	D	3.245	0.89746	M	0.97	0.57100	T	-5.1	0.83027	D	0.39	0.43126	-1.0003	0.29831	T	0.083	0.32499	T	10	0.007736057	0.00176	T	.	.	.	0.270	0.58507	.	.	0.132336055621	0.12781	0.5295083798534944	0.52874	0.0719212847371	0.08059	0.58694589138	0.51064	T	0.309444	0.68147	T	-0.212933	0.18968	T	-0.0663166	0.65888	T	0.304886422831979	0.25205	T	0.855914	0.55677	D	0.40479988	0.61063	0.43746042	0.67165	0.40479988	0.61064	0.43746042	0.67165	-9.628	0.73087	D	.	.	0.134	0.29116	B	.;.	.;.	3.621188	0.51243	23.1	0.98397011259247125	0.41020	0.81082	0.40563	D	AEFDGBHCI	0.300634	0.40937	N	-0.280085291483415	0.29918	1.663432	-0.200013913425022	0.31536	1.785679	0.999999999986473	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.26	4.38	0.52019	3.199000	0.50745	6.054000	0.53115	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	0.0:0.9186:0.0:0.0814	12.636	0.56043	853	0.34956	.;.	.	.	.	.	.	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	0.002083	0.000000	0.000000	0.002941	0.000000	0.000000	0.003205	0.003846	0.08333	239.83	33	chr14	56580050	.	C	A	239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.489;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-2.259;SOR=0.937	GT:AD:DP:GQ:PL	0/1:20,12:32:99:250,0,564	5	0	1	0
chr14	57269330	57269330	G	A	exonic	AP5M1	.	nonsynonymous SNV	AP5M1:NM_018229:exon1:c.G16A:p.V6M	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0121	0.0123802	0.0030	0.0342	0.0010	0	0	0	0	0	0.0029107	450	154602	rs34722917	0.0010	0.0010	0.0011	0.0009	0.0389	0.0010	0.0010	0.0371	0.0364	0.0389	0.0011	0	0	0	0.0009	1.709e-05	0.0017	2.319e-05	0.0095	0.0095	0.0099	0.0090	0.0335	0.0091	0.0089	0.0320	0.0315	0.0335	0	0.0021	0	0	0	0	0.0001	0.0057	0	0.039	0.42487	D	0.032	0.53426	D	0.003	0.11197	B	0.005	0.11217	B	0.000402	0.44736	N	0.198494	0.551794	0.32139	D	1.59	0.40313	L	1.33	0.36146	T	-0.27	0.12283	N	0.162	0.17140	-1.0504	0.14285	T	0.016	0.06329	T	10	0.0055793524	0.00123	T	.	.	.	0.039	0.10176	.	.	0.437850553699	0.43404	0.40875554934818525	0.40791	0.113486424139	0.12814	0.448370069265	0.31721	T	0.004763	0.15193	T	-0.530213	0.00383	T	-0.506528	0.21672	T	0.0380032153363364	0.03332	T	0.809719	0.46038	T	0.04996854	0.08955	0.100128196	0.23930	0.04996854	0.08955	0.100128196	0.23929	-6.089	0.47018	T	.	.	0.220	0.56599	B	.;.	.;.	2.758766	0.36180	20.2	0.99803478320220451	0.88817	0.08725	0.14612	N	ALL	0.079840	0.16132	N	-0.426781437644193	0.24533	1.325406	-0.344254631075731	0.26687	1.475702	0.999999999622678	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.93	1.55	0.22356	0.534000	0.22807	1.434000	0.26471	0.676000	0.76740	0.690000	0.28531	0.854000	0.27420	0.672000	0.33309	0.1793:0.4389:0.3818:0.0	6.474	0.21223	743	0.52768	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	699.83	33	chr14	57269330	.	G	A	699.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.916;DP=236;ExcessHet=0;FS=0.958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.296;SOR=0.52	GT:AD:DP:GQ:PL	0/1:35,31:66:99:710,0,878	5	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	442.52	21	chr14	58213644	.	T	C	442.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.935;DP=298;ExcessHet=6.1542;FS=360.341;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.36;SOR=9	GT:AD:DP:GQ:PL	0/1:36,18:54:87:87,0,647	1	0	5	0
chr14	60125773	60125773	A	G	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon9:c.A2515G:p.I839V,PCNX4:NM_001330177:exon10:c.A3217G:p.I1073V	.	440	1067	15	0	0	15	0.00697999	.	.	.	2810450	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00536513960952	0.0031	0.00199681	0.0037	0.0003	0.0023	0.0001	0.0006	0.0051	0.0012	0.0042	0.0036481	564	154602	rs145320435	0.0043	0.0043	0.0044	0.0043	0.0048	0.0042	0.0042	0.0047	0.0046	0.0006	0.0028	0.0084	5.064e-05	0.0008	0.0031	0.0048	0.0038	0.0042	0.0034	0.0034	0.0035	0.0033	0.0059	0.0032	0.0031	0.0049	0.0045	0.0008	0.0066	0.0059	0.0060	0.0002	0.0008	0.0068	0.0048	0.0052	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.06944	B	0.006555	0.31955	N	0.323849	0.904636	0.31372	N	-0.865	0.01458	N	1.2	0.37405	T	0.19	0.04947	N	0.062	0.03392	-0.9402	0.42584	T	0.028	0.12058	T	10	0.0047587156	0.00101	T	0.005365	0.13740	T	0.034	0.08419	.	.	0.0551355673512	0.04727	0.21568530189674243	0.21484	0.0121069975682	0.01151	0.247376948595	0.03496	T	0.006	0.06325	T	-0.588198	0.00172	T	-0.615348	0.11554	T	0.000968958407932315	0.00009	T	0.708829	0.33490	T	0.013086097	0.00049	0.027401539	0.00891	0.013086097	0.00049	0.027401539	0.00891	-1.688	0.02198	T	.	.	0.057	0.01786	B	.;.;.	.;.;.	0.228112	0.06097	2.541	0.45324561751544662	0.03549	0.29507	0.23840	N	AEBI	0.086867	0.17613	N	-1.06073496432736	0.07378	0.3425786	-0.86521962427999	0.12922	0.6675214	0.86253732062461	0.25254	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.26	-1.63	0.07900	1.496000	0.35246	-0.285000	0.10238	-0.648000	0.04400	0.998000	0.41325	0.011000	0.20116	0.939000	0.47918	0.2688:0.0:0.7312:0.0	13.361	0.60095	604	0.67577	Pecanex, C-terminal;Pecanex, C-terminal;Pecanex, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.08333	467.83	37	chr14	60125773	.	A	G	467.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=234;ExcessHet=0;FS=4.223;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.928;SOR=1.46	GT:AD:DP:GQ:PL	0/1:35,20:55:99:478,0,833	5	0	1	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	360.03	184	chr14	63599753	.	G	A	360.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.25;DP=771;ExcessHet=1.383;FS=10.169;MLEAC=3;MLEAF=0.25;MQ=58.75;MQRankSum=-9.732;QD=0.76;ReadPosRankSum=-1.642;SOR=1.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,13:170:73:0|1:63599753_G_A:73,0,6474:63599753	3	0	3	0
chr14	64052611	64052611	A	G	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon48:c.A8698G:p.N2900D,SYNE2:NM_182914:exon48:c.A8698G:p.N2900D	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2891047	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.0143079659423	.	0.000199681	8.39e-06	0	0	0	0	0	0	6.095e-05	1.29e-05	2	154602	rs558451144	6.157e-06	6.156e-06	8.168e-06	4.126e-06	2.319e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	2.319e-05	6.564e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.568	0.09048	T	0.379	0.16086	T	0.0	0.02946	B	0.001	0.04355	B	0.770208	0.06593	N	1.126930	1	0.08975	N	0.145	0.08828	N	1.39	0.54540	T	-0.3	0.13611	N	0.067	0.11626	-1.0294	0.20649	T	0.051	0.21533	T	10	0.03769511	0.02140	T	0.014308	0.34341	T	0.050	0.13987	0.283	0.23961	0.165133752707	0.16062	0.024311728517385917	0.02382	0.0526534794119	0.05800	0.323287844658	0.13918	T	0.00343	0.20786	T	-0.517339	0.00456	T	-0.777298	0.02536	T	0.0219526872167549	0.00903	T	0.60194	0.23564	T	0.033399083	0.03550	0.033625465	0.02289	0.033399083	0.03549	0.033625465	0.02289	-4.04	0.24400	T	.	.	0.071	0.03773	B	.;.;.;.	.;.;.;.	-0.608391	0.01549	0.101	0.65215926844118954	0.07710	0.01348	0.04627	N	AEFGBI	0.025390	0.01732	N	-1.64490386493782	0.01057	0.04584988	-1.71063217634172	0.01091	0.04900373	0.999999874290104	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.51	-11.0	0.00133	-1.739000	0.01939	-1.128000	0.06247	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.169000	0.20946	0.2407:0.0922:0.5763:0.0908	9.560	0.38531	628	0.65206	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	893.83	50	chr14	64052611	.	A	G	893.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.33;DP=333;ExcessHet=0;FS=0.99;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.281;SOR=0.473	GT:AD:DP:GQ:PL	0/1:30,30:60:99:904,0,783	5	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	579.42	77	chr14	64158707	.	T	C	579.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.587;DP=539;ExcessHet=6.1542;FS=180.799;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.52;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,32:99:99:.:.:258,0,1270:.	1	0	5	0
chr14	67397688	67397688	G	A	exonic	PLEK2	.	nonsynonymous SNV	PLEK2:NM_016445:exon2:c.C181T:p.P61S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.738	0.186218891834	.	.	1.708e-05	0	0	0	0	3.085e-05	0	0	1.29e-05	2	154602	rs147132197	6.846e-06	6.84e-06	6.81e-06	6.882e-06	0.0002	3.46e-06	2.52e-06	1.32e-06	9.6e-07	2.987e-05	2.243e-05	0	0	0	0.0002	4.498e-06	3.313e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.023	0.57104	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.655	0.42436	L	-3.15	0.92938	D	-3.73	0.70920	D	0.818	0.81360	0.720	0.93423	D	0.850	0.94984	D	10	0.8681574	0.86069	D	0.186219	0.85861	D	0.738	0.90895	0.465	0.53566	0.988112944549	0.98798	0.6855509596717184	0.68494	0.869853243277	0.69354	0.733430147171	0.72008	T	0.510291	0.82673	D	0.19568	0.73488	D	0.225451	0.84448	D	0.781692981719971	0.45156	D	0.90111	0.65631	D	0.66324353	0.76072	0.6847568	0.81465	0.66324353	0.76074	0.6847568	0.81466	-7.818	0.59823	D	.	.	0.964	0.88533	P	.	.	4.586498	0.72512	25.8	0.99913646352542318	0.98238	0.99582	0.97678	D	AEFDGBI	0.952964	0.96887	D	0.795334495285528	0.85814	8.689581	0.827089750467477	0.91611	10.97489	0.999999999974473	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.9	5.9	0.94952	9.588000	0.97390	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.453	0.90657	315	0.87208	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1887.83	40	chr14	67397688	.	G	A	1887.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.725;DP=339;ExcessHet=0;FS=3.928;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.949;SOR=0.435	GT:AD:DP:GQ:PL	0/1:74,75:149:99:1898,0,1890	5	0	1	0
chr14	71587916	71587916	C	T	exonic	SIPA1L1	.	nonsynonymous SNV	SIPA1L1:NM_001284246:exon2:c.C44T:p.T15I,SIPA1L1:NM_001284247:exon4:c.C44T:p.T15I,SIPA1L1:NM_001354285:exon5:c.C44T:p.T15I,SIPA1L1:NM_001354287:exon5:c.C44T:p.T15I,SIPA1L1:NM_001354288:exon5:c.C44T:p.T15I,SIPA1L1:NM_001354286:exon6:c.C44T:p.T15I,SIPA1L1:NM_001284245:exon7:c.C44T:p.T15I,SIPA1L1:NM_015556:exon7:c.C44T:p.T15I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0125808766887	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	.	2.054e-06	2.052e-06	4.086e-06	0	2.701e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.20912	T	0.11	0.37310	T	0.666	0.41077	P	0.23	0.38212	B	0.042546	0.23831	N	0.463823	0.999949	0.19238	N	1.39	0.34934	L	-1.01	0.76300	T	-3.28	0.65627	D	0.223	0.34012	-0.8628	0.51061	T	0.236	0.60319	T	10	0.09123403	0.15965	T	0.012581	0.31278	T	0.088	0.25558	0.257	0.19845	0.485485078511	0.48178	0.07605499963878577	0.07541	0.380412379635	0.39413	0.446199983358	0.31425	T	0.078574	0.35924	T	-0.0496129	0.44507	T	-0.309042	0.43762	T	0.425381481647491	0.29889	T	0.872813	0.58002	D	0.05980843	0.12200	0.053633418	0.09072	0.05980843	0.12199	0.053633418	0.09072	-4.148	0.25995	T	.	.	0.133	0.28920	B	.;.;.;.	.;.;.;.	2.132625	0.27151	17.36	0.93881906736153264	0.23900	0.62811	0.31895	D	AEFBHCI	0.175524	0.30270	N	-0.518148280748305	0.21493	1.141042	-0.432371355780511	0.24053	1.315044	0.999992544863892	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.42	3.53	0.39533	2.346000	0.43683	4.062000	0.41595	0.599000	0.40250	0.506000	0.27002	0.999000	0.35428	0.993000	0.69303	0.0:0.6077:0.3923:0.0	15.573	0.76094	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	.	.	.	.	.	.	.	.	0.1667	1296.06	33	chr14	71587916	.	C	T	1296.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.724;DP=271;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.598;SOR=0.736	GT:AD:DP:GQ:PL	0/1:34,25:59:99:603,0,855	4	0	2	0
chr14	74863732	74863732	C	T	exonic	PROX2	.	nonsynonymous SNV	PROX2:NM_001080408:exon3:c.G103A:p.D35N,PROX2:NM_001243007:exon3:c.G103A:p.D35N,PROX2:NM_001384314:exon4:c.G103A:p.D35N	.	8	1465	48	1	0	50	0.0167785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0015	0.0081869	0.0042	0.0002	0.0025	0	0.0003	0.0030	0.0064	0.0260	0.0039003	603	154602	rs180960227	0.0030	0.0031	0.0024	0.0036	0.0277	0.0029	0.0029	0.0240	0.0232	0.0005	0.0022	0.0188	5.103e-05	0.0002	0.0277	0.0014	0.0048	0.0246	0.0028	0.0028	0.0025	0.0031	0.0307	0.0026	0.0025	0.0267	0.0251	0.0003	0	0.0025	0.0205	0	9.413e-05	0.0102	0.0021	0.0028	0.0307	0.068	0.37750	T	0.043	0.49942	D	0.0	0.02946	B	0.001	0.04355	B	0.338976	0.04176	N	1.430780	1	0.08975	N	0.69	0.16971	N	0.96	0.42888	T	0.15	0.05310	N	0.074	0.05414	-1.0060	0.28156	T	0.041	0.17742	T	10	0.0030384362	0.00050	T	.	.	.	0.068	0.19811	.	.	0.0806252709748	0.07271	0.11674413745717793	0.11602	0.0477391704432	0.05209	0.295686364174	0.09760	T	0.004913	0.04332	T	-0.733045	0.00023	T	-0.806148	0.01753	T	0.0037572367142395	0.00040	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	-4.183	0.26505	T	.	.	0.100	0.17103	B	.;.	.;.	1.610506	0.20578	14.81	0.99037930992716072	0.50962	0.11356	0.16580	N	AEFDI	0.065554	0.12793	N	-0.668780823610627	0.16916	0.8660086	-0.729438421252094	0.16230	0.857553	0.998840203693113	0.37800	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.59	1.79	0.23992	-0.021000	0.12445	0.693000	0.20782	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.6397:0.0:0.3603	6.912	0.23520	716	0.55970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.010870	0.038012	0.000000	0.008621	0.009146	0.026515	0.08333	1559.83	34	chr14	74863732	.	C	T	1559.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.708;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=1.29;SOR=0.729	GT:AD:DP:GQ:PL	0/1:66,60:126:99:1570,0,1763	5	0	1	0
chr14	74909984	74909984	C	T	exonic	RPS6KL1	.	nonsynonymous SNV	RPS6KL1:NM_001370252:exon7:c.G829A:p.A277T,RPS6KL1:NM_001370253:exon8:c.G784A:p.A262T,RPS6KL1:NM_031464:exon8:c.G829A:p.A277T	.	415	1072	34	1	0	36	0.0165138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0016	0.00638978	0.0047	0.0002	0.0024	0.0001	0.0002	0.0034	0.0067	0.0188	0.0042496	657	154602	rs148670608	0.0029	0.0029	0.0024	0.0034	0.0274	0.0028	0.0028	0.0239	0.0226	0.0004	0.0024	0.0187	0.0004	0.0002	0.0274	0.0014	0.0043	0.0182	0.0026	0.0026	0.0024	0.0027	0.0224	0.0023	0.0023	0.0190	0.0177	0.0004	0	0.0024	0.0205	0.0006	9.434e-05	0.0102	0.0021	0.0028	0.0224	0.126	0.27194	T	0.579	0.08535	T	0.002	0.09854	B	0.001	0.04355	B	0.473879	0.04941	N	1.302770	1	0.08975	N	0.55	0.14455	N	0.32	0.58468	T	-0.95	0.25332	N	0.092	0.08227	-1.0221	0.23031	T	0.103	0.37869	T	10	0.0029692352	0.00048	T	.	.	.	0.015	0.02232	.	.	0.506006782367	0.50240	0.16706468169507002	0.16626	0.159674078061	0.18017	0.290036141872	0.08927	T	0.002076	0.01480	T	-0.641258	0.00082	T	-0.678963	0.07047	T	0.00194524139961261	0.00020	T	0.346465	0.07620	T	0.027767	0.02015	0.039660048	0.04111	0.027767	0.02015	0.039660048	0.04111	-3.636	0.18379	T	.	.	0.065	0.01884	B	.;.;.	.;.;.	-0.279271	0.02708	0.355	0.62731164246453697	0.07038	0.07838	0.13831	N	AEFDBI	0.087683	0.17779	N	-1.18298548075412	0.05257	0.239226	-1.16460723848425	0.06510	0.313568	0.997888244719528	0.36150	0.660377	0.49826	0	0.588066	0.40923	0	0.645312	0.48771	0	0.592323	0.36904	0	.	.	5.4	1.18	0.20058	-1.426000	0.02550	0.009000	0.13411	-1.700000	0.00758	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0925:0.3138:0.4448:0.1489	3.758	0.08116	623	0.65786	Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|RPK118-like, kinase domain;Protein kinase domain|RPK118-like, kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.010870	0.035088	0.000000	0.017241	0.009146	0.022727	0.08333	731.83	35	chr14	74909984	.	C	T	731.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.133;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.68;SOR=0.76	GT:AD:DP:GQ:PL	0/1:36,29:65:99:742,0,942	5	0	1	0
chr14	75717892	75717892	A	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon10:c.A772G:p.K258E	Cone-rod dystrophy 19, Autosomal recessive	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.017383949337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.32296	T	0.138	0.33780	T	0.178	0.30041	B	0.078	0.42592	B	0.000002	0.62929	D	0.134887	0.993811	0.81001	D	0.94	0.23649	L	3.41	0.05574	T	-1.61	0.38734	N	0.522	0.61341	-0.9998	0.29973	T	0.024	0.10329	T	10	0.28226846	0.45805	T	0.017384	0.39055	T	0.217	0.51112	0.448	0.50793	0.0297737177859	0.01360	0.5593061579962352	0.55857	0.29414098845	0.31833	0.819464206696	0.84946	D	0.025325	0.18960	T	-0.0866819	0.38623	T	-0.362289	0.37787	T	0.757024557418396	0.43682	D	0.918008	0.70480	D	0.3829123	0.59527	0.39675626	0.64309	0.3829123	0.59527	0.39675626	0.64309	-13.355	0.90773	D	0.6660518613242252	0.74030	0.315	0.76407	B	.;.	.;.	4.215989	0.63731	24.6	0.99770421817044574	0.85834	0.93769	0.59138	D	AEFDGBHCI	0.785167	0.71563	D	0.190310299479286	0.50735	3.260646	0.374278137493252	0.59982	4.181125	0.999999998304478	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	6.904000	0.75530	11.290000	0.92000	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.238	0.82212	767	0.49651	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1153.83	38	chr14	75717892	.	A	G	1153.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.384;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.365;SOR=0.678	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1164,0,1749	5	0	1	0
chr14	88478968	88478968	G	C	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon13:c.C2463G:p.D821E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0060	0.00599042	0.0018	0.0189	0.0011	0	0	0	0	0	0.0015071	233	154602	rs143571855	0.0005	0.0005	0.0005	0.0004	0.0176	0.0004	0.0004	0.0163	0.0158	0.0176	0.0008	0	0	0	0.0002	9.258e-06	0.0009	5.214e-05	0.0051	0.0051	0.0055	0.0047	0.0180	0.0048	0.0047	0.0169	0.0165	0.0180	0	0.0012	0	0	0	0	4.41e-05	0.0033	0	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.011	0.15521	B	0.000004	0.62929	D	0.102401	0.999819	0.20249	N	0.655	0.16177	N	-0.43	0.69657	T	-0.44	0.14588	N	0.32	0.36043	-0.9560	0.39916	T	0.046	0.19559	T	10	0.0048018694	0.00102	T	.	.	.	0.146	0.38789	0.19	0.10039	0.324161360171	0.32030	.	.	0.29305992343	0.31727	0.704627871513	0.67813	T	0.006162	0.05598	T	-0.571521	0.00217	T	-0.578132	0.14711	T	0.00242922959317224	0.00025	T	0.687731	0.29668	T	0.08400358	0.19423	0.058239203	0.10727	0.08400358	0.19423	0.058239203	0.10727	-6.874	0.53107	T	.	.	0.191	0.48230	B	.;.	.;.	0.242898	0.06227	2.682	0.40644417978459813	0.02882	0.07574	0.13586	N	AEFDBI	0.077380	0.15590	N	-1.33598369548941	0.03272	0.145902	-1.33414874064517	0.03996	0.1875843	0.999885115690773	0.44867	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.42	-6.17	0.01912	-1.577000	0.02231	-0.095000	0.12011	0.676000	0.76740	0.001000	0.13787	0.115000	0.22839	0.923000	0.45890	0.6682:0.0:0.1704:0.1615	9.286	0.36918	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	917.83	34	chr14	88478968	.	G	C	917.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.868;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.241;SOR=0.676	GT:AD:DP:GQ:PL	0/1:31,40:71:99:928,0,797	5	0	1	0
chr14	92652445	92652445	A	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.A1171C:p.I391L,RIN3:NM_024832:exon6:c.A1396C:p.I466L	.	421	1036	60	5	0	70	0.0326797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00309365121416	0.0025	0.00299521	0.0036	0.0002	0.0029	0.0001	0.0002	0.0036	0.0033	0.0093	0.0005563	86	154602	rs139248637	0.0029	0.0029	0.0025	0.0033	0.0260	0.0028	0.0028	0.0226	0.0213	0.0004	0.0020	0.0085	0	0.0002	0.0260	0.0023	0.0039	0.0106	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0051	0.0004	0	0.0018	0.0115	0	0.0002	0.0136	0.0033	0.0061	0.0077	0.422	0.09776	T	0.704	0.05642	T	0.001	0.07471	B	0.001	0.04355	B	0.190221	0.03245	N	1.726180	1	0.08975	N	1.7	0.43825	L	3.48	0.05130	T	-0.4	0.13805	N	0.138	0.17553	-0.9801	0.34979	T	0.009	0.03448	T	10	0.004621327	0.00096	T	0.003094	0.06696	T	0.045	0.12272	.	.	0.158396225186	0.15383	0.07307677932850949	0.07244	0.267599257895	0.29301	0.362659394741	0.19772	T	9.89E-4	0.05002	T	-0.684917	0.00045	T	-0.74865	0.03539	T	0.00979248961840315	0.00129	T	0.549145	0.18877	T	0.091709405	0.21496	0.053237252	0.08929	0.091709405	0.21496	0.053237252	0.08928	-6.483	0.50155	T	.	.	0.086	0.37501	B	.;.	.;.	0.208994	0.05926	2.368	0.79575064024098185	0.12804	0.03045	0.07938	N	AEFDGBHCI	0.063993	0.12399	N	-1.05714071227082	0.07448	0.3460229	-1.07116832256243	0.08271	0.405983	0.999999968999082	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	-3.16	0.04897	-0.702000	0.05171	0.316000	0.17134	-0.113000	0.14837	0.154000	0.23713	0.652000	0.25970	0.297000	0.24428	0.1825:0.2771:0.438:0.1024	4.308	0.10399	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017137	0.000000	0.009511	0.023392	0.050000	0.017241	0.027439	0.018939	0.08333	988.83	35	chr14	92652445	.	A	C	988.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.077;DP=305;ExcessHet=0;FS=1.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.419;SOR=0.547	GT:AD:DP:GQ:PL	0/1:61,44:105:99:999,0,1604	5	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1167.3	85	chr14	94497802	.	C	T	1167.3	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.282;DP=483;ExcessHet=3.1439;FS=349.365;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=-0.071;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,19:70:99:0|1:94497802_C_T:170,0,1593:94497802	0	0	4	2
chr14	94497803	94497803	C	A	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595T:p.G199C,SERPINA12:NM_001382267:exon2:c.G595T:p.G199C,SERPINA12:NM_173850:exon3:c.G595T:p.G199C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0718795230002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.052	0.47581	T	0.999	0.77913	D	0.962	0.70672	D	0.251813	0.15493	N	0.613802	1	0.08975	N	2.82	0.82106	M	-2.34	0.87989	D	-4.13	0.75139	D	0.376	0.41754	-0.1311	0.79376	T	0.706	0.89874	D	10	0.31669664	0.49087	T	0.07188	0.71387	D	0.381	0.69863	0.527	0.63263	0.518970300747	0.51540	0.7226049437517966	0.72204	0.173124322031	0.19496	0.338093519211	0.16151	T	0.270611	0.64289	T	0.0147048	0.53665	T	-0.216654	0.53058	T	0.972673177719116	0.69791	D	0.666933	0.27600	T	0.7266498	0.79535	0.50329554	0.71288	0.7266498	0.79536	0.50329554	0.71288	-7.322	0.56352	T	.	.	0.295	0.53823	B	.;.	.;.	3.507296	0.49099	22.7	0.99640496672547163	0.76633	0.14790	0.18586	N	AEFCI	0.215107	0.34050	N	-0.00496599638126741	0.41630	2.493528	-0.196529388905759	0.31663	1.794084	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	434.32	85	chr14	94497803	.	C	A	434.32	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.911;DP=482;ExcessHet=0.4139;FS=136.695;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=-1.123;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,19:70:99:0|1:94497802_C_T:170,0,1593:94497802	5	0	1	0
chr14	95096079	95096079	T	C	exonic	DICER1	.	nonsynonymous SNV	DICER1:NM_001195573:exon22:c.A4841G:p.Q1614R,DICER1:NM_001271282:exon23:c.A4841G:p.Q1614R,DICER1:NM_001291628:exon23:c.A4841G:p.Q1614R,DICER1:NM_177438:exon23:c.A4841G:p.Q1614R,DICER1:NM_030621:exon25:c.A4841G:p.Q1614R	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	.	.	.	.	.	.	.	.	.	.	463633	DICER1-related_tumor_predisposition|not_provided|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.0260332833224	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs769225805	1.368e-06	1.368e-06	2.722e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.21224	T	0.488	0.11621	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.600559	0.878178	0.35696	D	1.445	0.36358	L	0.46	0.85943	T	-0.23	0.13226	N	0.29	0.49420	-0.7761	0.56520	T	0.374	0.73250	T	10	0.10418111	0.19193	T	0.026033	0.48966	D	0.046	0.12618	.	.	0.684432930218	0.68174	0.4405448944950097	0.43971	0.532241009335	0.50698	0.329925715923	0.14922	T	0.199571	0.55688	T	-0.0170022	0.49280	T	-0.262199	0.48605	T	0.0302731694905276	0.02032	T	0.851815	0.54193	D	0.23923023	0.46810	0.054886512	0.09526	0.23923023	0.46810	0.054886512	0.09525	-3.74	0.21478	T	.	.	0.075	0.06942	B	.;.;.;.;.;.	.;.;.;.;.;.	1.959919	0.24899	16.56	0.98103205592329512	0.38286	0.86068	0.45281	D	AEFBI	0.144504	0.26748	N	-0.427662682455043	0.24503	1.323529	-0.284113578555032	0.28620	1.597238	0.991619945077705	0.32549	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.49	1.58	0.22557	1.180000	0.31614	2.236000	0.31572	-0.157000	0.11712	0.827000	0.30089	0.997000	0.33255	0.354000	0.25750	0.0:0.0701:0.2687:0.6612	7.509	0.26731	964	0.07719	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1338.83	35	chr14	95096079	.	T	C	1338.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.817;DP=291;ExcessHet=0;FS=0.712;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.012;SOR=0.6	GT:AD:DP:GQ:PL	0/1:56,53:109:99:1349,0,1544	5	0	1	0
chr14	95117750	95117750	T	C	exonic	DICER1	.	nonsynonymous SNV	DICER1:NM_001195573:exon8:c.A1381G:p.I461V,DICER1:NM_001271282:exon9:c.A1381G:p.I461V,DICER1:NM_001291628:exon9:c.A1381G:p.I461V,DICER1:NM_177438:exon9:c.A1381G:p.I461V,DICER1:NM_030621:exon11:c.A1381G:p.I461V	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	12	1496	12	2	0	16	0.00531915	.	.	.	241992	not_provided|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|DICER1-related_tumor_predisposition	MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.286	0.0314404593258	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0.0022	0.0002	0.0001294	20	154602	rs141163928	0.0002	0.0002	0.0001	0.0002	0.0054	0.0001	0.0001	0.0039	0.0034	0	0.0002	7.656e-05	0	0	0.0054	0.0001	0.0003	0.0004	9.855e-05	9.851e-05	0.0001	8.068e-05	0.0002	6.006e-05	4.879e-05	0.0001	8.876e-05	0	0	0	0	0	0	0.0032	0.0002	0.0005	0	0.102	0.30235	T	0.19	0.49942	T	0.844	0.46645	P	0.358	0.43079	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.96	0.23930	L	-0.57	0.71307	T	-0.84	0.22944	N	0.755	0.76573	-0.6344	0.63384	T	0.217	0.57941	T	10	0.34696907	0.51641	T	0.03144	0.53520	D	0.286	0.60456	.	.	0.672916388749	0.67015	0.4406704037031083	0.43984	1.02998117833	0.75401	0.841426074505	0.88312	D	0.490694	0.81538	T	-0.191172	0.22086	T	-0.162951	0.58085	T	0.109578865236313	0.13380	T	0.865513	0.56452	D	0.31814665	0.54483	0.21146883	0.45576	0.31814665	0.54483	0.21146883	0.45575	-7.034	0.54281	T	0.28726007813557897	0.38340	0.222	0.45310	B	.;.;.;.;.	.;.;.;.;.	3.317393	0.45614	22.2	0.99902234349908603	0.97350	0.94784	0.62318	D	AEFBHCI	0.869462	0.79001	D	0.350037420187756	0.58741	4.048347	0.453085819352859	0.64915	4.758103	0.999999999999286	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	7.922000	0.86947	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.344	0.74033	970	0.06235	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	611.83	33	chr14	95117750	.	T	C	611.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=210;ExcessHet=0;FS=2.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.421;SOR=1.135	GT:AD:DP:GQ:PL	0/1:21,24:45:99:622,0,494	5	0	1	0
chr14	103135947	103135947	C	T	exonic	TNFAIP2	.	nonsynonymous SNV	TNFAIP2:NM_001371220:exon13:c.C2095T:p.R699C,TNFAIP2:NM_001371221:exon13:c.C2095T:p.R699C	.	417	1093	10	2	0	14	0.00636364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0037858089141	.	0.000399361	0.0006	0	0	0	0	0.0015	0	0.0003	0.00011	17	154602	rs41310340	0.0004	0.0004	0.0004	0.0004	0.0093	0.0004	0.0003	0.0071	0.0063	8.187e-05	0.0014	0.0024	7.763e-05	7.899e-05	0.0093	0.0003	0.0010	0.0001	0.0008	0.0008	0.0007	0.0008	0.0034	0.0007	0.0006	0.0027	0.0024	4.808e-05	0	0.0034	0.0020	0	9.406e-05	0.0238	0.0007	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	873.83	38	chr14	103135947	.	C	T	873.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.05;DP=299;ExcessHet=0;FS=2.856;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.112;SOR=1.014	GT:AD:DP:GQ:PL	0/1:52,37:89:99:884,0,1179	5	0	1	0
chr14	104175384	104175384	G	A	exonic	KIF26A	.	nonsynonymous SNV	KIF26A:NM_015656:exon12:c.G2596A:p.G866R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0516955374921	.	.	8.615e-05	0	0.0004	0	0	0	0	0.0003	5.17e-05	8	154602	rs779918856	3.043e-05	3.283e-05	2.476e-05	3.617e-05	0.0003	2.307e-05	2.055e-05	0.0002	0.0002	0	0.0003	0	2.538e-05	0	0	3.607e-06	5.003e-05	0.0002	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	0	0	0.0002	0.252	0.17014	T	0.321	0.19073	T	0.013	0.16609	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.42	0.12520	N	-1.09	0.77206	T	-0.57	0.17210	N	0.102	0.08786	-0.9771	0.35660	T	0.216	0.57745	T	9	0.043236494	0.03151	T	0.051696	0.64767	D	0.149	0.39377	0.173	0.07894	0.518199804421	0.51461	0.20226789382741747	0.20143	0.0986521047043	0.11146	0.61425101757	0.54916	T	0.021131	0.16509	T	-0.356323	0.04342	T	-0.419609	0.31120	T	0.0163884896856001	0.00407	T	0.551745	0.19033	T	0.087105185	0.20272	0.04977922	0.07678	0.087105185	0.20272	0.04977922	0.07678	-4.287	0.27994	T	.	.	0.092	0.13362	B	.;.	.;.	0.824991	0.11966	8.523	0.60188172507091076	0.06403	0.00891	0.03504	N	AEFBI	0.046566	0.07747	N	-1.07699657055927	0.07069	0.3273018	-1.150134262861	0.06765	0.3267731	0.750815909112786	0.23357	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.61	-0.96	0.09812	0.767000	0.26238	0.107000	0.14728	-0.810000	0.03076	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.2249:0.2815:0.2667:0.2269	0.504	0.00546	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1543.83	57	chr14	104175384	.	G	A	1543.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=381;ExcessHet=0;FS=4.377;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.997;SOR=0.712	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1554,0,1584	5	0	1	0
chr14	104928867	104928867	G	A	exonic	PLD4	.	nonsynonymous SNV	PLD4:NM_001308174:exon4:c.G424A:p.V142M,PLD4:NM_138790:exon4:c.G403A:p.V135M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00199681	0.0009	0	0	0.0120	0	1.532e-05	0	0	0.0007956	123	154602	rs3803295	0.0003	0.0003	0.0003	0.0004	0.0115	0.0003	0.0003	0.0106	0.0103	2.988e-05	0	0	0.0115	0	0.0002	1.17e-05	0.0002	9.276e-05	0.0005	0.0005	0.0004	0.0006	0.0127	0.0004	0.0004	0.0103	0.0094	2.405e-05	0	6.533e-05	0	0.0127	0	0	7.35e-05	0	0	0.024	0.47745	D	0.058	0.46406	T	0.402	0.34891	B	0.147	0.34014	B	0.012858	0.29033	N	0.275018	0.999236	0.21473	N	2.24	0.63355	M	2.5	0.14408	T	-1.97	0.45587	N	0.334	0.37509	-1.0783	0.07681	T	0.015	0.06282	T	10	0.009185493	0.00207	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.7527918913284705	0.75226	0.258511440813	0.28405	0.773303627968	0.77918	T	0.068527	0.33479	T	-0.531486	0.00376	T	-0.522594	0.20031	T	0.040504686953913	0.03782	T	0.674733	0.28305	T	0.059357964	0.12053	0.09065059	0.21270	0.059357964	0.12052	0.09065059	0.21270	-6.279	0.48556	T	.	.	0.235	0.46848	B	.;.;.;.	.;.;.;.	2.004253	0.25467	16.77	0.99458860756337464	0.65684	0.28627	0.23605	N	AEFDBI	0.100960	0.20289	N	-0.474208468615147	0.22927	1.227693	-0.520008594507326	0.21610	1.169866	0.999648190856102	0.41316	0.648238	0.45900	0	0.693144	0.66847	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.45	2.58	0.30011	2.041000	0.40834	0.901000	0.22550	0.656000	0.54149	0.991000	0.37257	0.245000	0.23879	0.367000	0.26044	0.3264:0.0:0.6736:0.0	6.369	0.20676	982	0.03397	.;.;.;Phospholipase D-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	0.003788	0.08333	1302.83	35	chr14	104928867	.	G	A	1302.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.521;DP=305;ExcessHet=0;FS=1.474;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.325;SOR=0.814	GT:AD:DP:GQ:PL	0/1:61,56:117:99:1313,0,1424	5	0	1	0
chr14	104952976	104952976	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G2175T:p.E725D,AHNAK2:NM_138420:exon7:c.G2475T:p.E825D	.	425	1066	31	0	0	31	0.0143319	.	.	.	2333959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.00512438298702	.	.	0.0004	0.0012	0.0003	0	0.0002	0.0005	0	0	0.0010373	27	26028	rs201734490	6.088e-05	0.0032	7.382e-05	4.781e-05	0.0014	4.995e-05	4.666e-05	0.0007	0.0005	0.0005	0.0002	8.15e-05	0.0001	5.71e-05	0.0014	3.031e-05	0.0002	2.362e-05	0.0008	0.0041	0.0007	0.0008	0.0025	0.0007	0.0006	0.0014	0.0012	0.0016	0	0.0006	0.0006	0.0025	9.681e-05	0	0.0003	0.0016	0.0007	0.689	0.04315	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	6.56	0.00523	T	0.45	0.03191	N	0.029	0.00666	-0.9666	0.37894	T	0.000	0.00114	T	9	0.0086449385	0.00196	T	0.005124	0.13001	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.007317679835181649	0.00697	.	.	0.226426288486	0.01714	T	0.016018	0.13319	T	-0.655655	0.00067	T	-0.84332	0.01050	T	0.00203408097626173	0.00021	T	0.269973	0.04523	T	0.019858923	0.00526	0.032933876	0.02107	0.019858923	0.00526	0.032933876	0.02107	-0.032	0.00361	T	.	.	0.046	0.00066	B	.	.	-2.549883	0.00028	0.001	0.14482228779594011	0.00321	0.00449	0.02181	N	AEFBI	.	.	.	-2.56577318146295	0.00011	0.0004852454	-2.55233232990428	0.00017	0.0007689442	0.983344733312058	0.30544	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.61	-7.22	0.01335	-3.536000	0.00489	-20.000000	0.00162	-5.109000	0.00014	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4831:0.2799:0.1433:0.0937	3.667	0.07794	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016578	0.031250	0.019022	0.020661	0.000000	0.017241	0.009494	0.007692	0.08333	130.83	54	chr14	104952976	.	C	A	130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.882;DP=1255;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.083;MQ=58.52;MQRankSum=-18.83;QD=0.21;ReadPosRankSum=1.28;SOR=0.624	GT:AD:DP:GQ:PL	0/1:550,81:631:99:141,0,15351	5	0	1	0
chr14	104954103	104954103	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1048A:p.G350S,AHNAK2:NM_138420:exon7:c.G1348A:p.G450S	.	398	1123	1	0	0	1	0.000445038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0368878327033	.	0.000599042	0.0004	0	0	0.0050	0	0	0	0	0.0002975	46	154602	rs181990876	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0042	0.0039	0	0	0	0.0047	0	0	2.698e-06	8.284e-05	4.637e-05	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	9.698e-05	0.0029	0.0024	0	0	0	0	0.0042	0	0	4.41e-05	0	0	0.278	0.15613	T	0.651	0.06713	T	0.782	0.44333	P	0.423	0.45170	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	4.27	0.02513	T	-1.23	0.31170	N	0.127	0.12055	-0.8900	0.48934	T	0.007	0.02244	T	9	0.0049704313	0.00107	T	0.036888	0.57273	D	0.063	0.18251	.	.	0.0138822411134	0.00435	0.2532600651871196	0.25240	.	.	0.209152787924	0.00776	T	0.020203	0.15948	T	-0.64371	0.00079	T	-0.694809	0.06113	T	0.0427771763415979	0.04196	T	0.369963	0.08710	T	0.023758192	0.01144	0.03326169	0.02192	0.023758192	0.01144	0.03326169	0.02192	-4.457	0.30322	T	.	.	0.124	0.26232	B	.	.	0.431660	0.08022	4.739	0.98934875358020669	0.48826	0.07922	0.13909	N	AEFBI	.	.	.	-0.896510028473421	0.10925	0.5245394	-0.997312660922517	0.09845	0.4922176	0.00228634654566724	0.09294	0.706548	0.73137	0	0.59043	0.45803	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.76	0.478	0.16000	-0.011000	0.12659	-1.335000	0.05687	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5131:0.1407:0.3463	5.658	0.16930	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	.	.	.	.	.	.	.	.	0.08333	922.83	54	chr14	104954103	.	C	T	922.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.82;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.061;SOR=0.656	GT:AD:DP:GQ:PL	0/1:38,35:73:99:933,0,1081	5	0	1	0
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S,POTEB:NM_001277304:exon9:c.A1259G:p.N420S	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.094329	0.101266	0.100000	0.132479	0.000000	0.052632	0.083942	0.073171	0.3333	2439.96	33	chr15	20845872	.	T	C	2439.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.07;DP=1260;ExcessHet=3.1439;FS=0;MLEAC=4;MLEAF=0.333;MQ=37.37;MQRankSum=-0.44;QD=2.08;ReadPosRankSum=0.277;SOR=0.788	GT:AD:DP:GQ:PL	0/1:306,65:371:99:683,0,7115	2	0	4	0
chr15	21439909	21439909	A	G	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon1:c.T103C:p.C35R	.	408	1109	4	0	1	5	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00265986708043	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200301581	0.0017	0.0040	0.0018	0.0017	0.0021	0.0017	0.0017	0.0021	0.0020	0.0005	0.0006	0.0003	0	0.0003	0.0005	0.0021	0.0016	0.0001	0.0014	0.0028	0.0014	0.0013	0.0025	0.0012	0.0012	0.0022	0.0021	0.0006	0	0.0005	0.0006	0	0.0002	0	0.0025	0.0005	0.0006	.	.	.	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.055375606	0.06041	T	0.00266	0.05434	T	.	.	.	.	0.394384168047	0.39052	0.0025569505950092174	0.00237	.	.	0.529879927635	0.43018	T	0.032381	0.22461	T	-0.117157	0.33589	T	-0.406064	0.32680	T	.	.	.	0.50225	0.15758	T	0.18166505	0.39349	0.2775771	0.53712	0.18166505	0.39348	0.2775771	0.53711	-9.641	0.71734	D	.	.	0.117	0.23605	B	.	.	1.066504	0.14488	11.06	0.95980307381909613	0.28357	0.00158	0.00946	N	AEFI	0.038682	0.05509	N	.	.	.	.	.	.	1.25753755028051E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.462	0.462	0.15906	-0.112000	0.10762	-0.078000	0.12213	0.256000	0.18359	0.007000	0.17678	0.000000	0.08366	0.054000	0.15518	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	552.7	36	chr15	21439909	.	A	G	552.7	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.894;DP=1394;ExcessHet=0;FS=7.123;MLEAC=1;MLEAF=0.1;MQ=48.68;MQRankSum=-4.862;QD=2.24;ReadPosRankSum=0.954;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,47:247:99:0|1:21439885_T_C:562,0,6710:21439885	4	0	1	1
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	0.75	3065.37	1	chr15	22081297	.	T	C	3065.37	.	AC=6;AF=0.75;AN=8;BaseQRankSum=4.73;DP=636;ExcessHet=0.2119;FS=43.298;MLEAC=7;MLEAF=0.875;MQ=47.14;MQRankSum=-7.298;QD=7.44;ReadPosRankSum=-0.342;SOR=2.907	GT:AD:DP:GQ:PL	1/1:1,44:45:99:1336,124,0	0	2	2	2
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.5	95	chr15	23361385	.	C	*	468.5	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.948;DP=430;ExcessHet=3.1439;FS=1.576;MLEAC=3;MLEAF=0.25;MQ=57.4;MQRankSum=0.836;QD=1.43;ReadPosRankSum=2.96;SOR=0.688	GT:AD:DP:GQ:PL	0/1:65,11:76:99:229,0,2606	3	0	3	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10281.9	114	chr15	23440492	.	C	*	10281.9	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.67;DP=681;ExcessHet=0;FS=3.882;MLEAC=5;MLEAF=0.417;MQ=57.6;MQRankSum=1.04;QD=15.51;ReadPosRankSum=0.335;SOR=0.821	GT:AD:DP:GQ:PL	1/0:0,71:117:99:4353,1531,1637	1	0	5	0
chr15	30091599	30091599	-	C	exonic	GOLGA8J	.	frameshift insertion	GOLGA8J:NM_001282472:exon14:c.1266dupC:p.G424Wfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	910.79	29	chr15	30091599	.	T	TC	910.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.413;DP=179;ExcessHet=0;FS=3.986;MLEAC=1;MLEAF=0.083;MQ=36.96;MQRankSum=-0.049;QD=22.77;ReadPosRankSum=2.03;SOR=0.18	GT:AD:DP:GQ:PL	0/1:9,31:40:99:921,0,190	5	0	1	0
chr15	30905792	30905792	C	T	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_001146094:exon2:c.C1129T:p.R377W,FAN1:NM_001146095:exon2:c.C1129T:p.R377W,FAN1:NM_001146096:exon2:c.C1129T:p.R377W,FAN1:NM_014967:exon2:c.C1129T:p.R377W	Interstitial nephritis, karyomegalic, Autosomal recessive	7	1507	8	0	0	8	0.00264725	.	.	.	725979	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.194	0.0285741485791	0.0056	0.00139776	0.0042	0.0007	0.0009	0	0.0053	0.0066	0.0011	0.0008	0.004476	692	154602	rs151322829	0.0062	0.0062	0.0062	0.0061	0.0073	0.0060	0.0060	0.0072	0.0071	0.0014	0.0013	0.0020	0	0.0057	0.0005	0.0073	0.0048	0.0010	0.0045	0.0045	0.0046	0.0043	0.0071	0.0042	0.0041	0.0066	0.0064	0.0012	0.0407	0.0014	0.0012	0	0.0068	0	0.0071	0.0033	0.0010	0.001	0.78490	D	0.002	0.79402	D	0.962	0.55554	D	0.287	0.40572	B	0.005562	0.32687	N	0.329396	0.993408	0.41929	D	2.78	0.81115	M	1.0	0.41392	T	-4.71	0.80425	D	0.497	0.54932	-0.8399	0.52653	T	0.078	0.31012	T	10	0.008988917	0.00203	T	0.028574	0.51232	D	0.194	0.47447	.	.	0.30212335484	0.29822	0.4591243335198023	0.45830	0.112379335131	0.12682	0.205271482468	0.00626	T	0.107639	0.42000	T	-0.367654	0.03714	T	-0.294063	0.45347	T	0.0949581100940725	0.11794	T	0.861414	0.55526	D	0.60826874	0.73135	0.43271166	0.66847	0.48007107	0.65905	0.49555796	0.70828	-8.662	0.71344	D	.	.	0.143	0.42834	B	.;.;.;.	.;.;.;.	2.847916	0.37588	20.5	0.99690156973208865	0.79842	0.46029	0.27669	N	AEFGBCI	0.332001	0.43155	N	-0.36118847058042	0.26863	1.469402	-0.480403557968031	0.22693	1.233904	0.999987647009376	0.51787	0.626454	0.40138	0	0.627608	0.54475	0	0.643519	0.47002	0	0.633917	0.49826	0	.	.	5.99	-1.21	0.09033	0.469000	0.21779	0.708000	0.20910	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.732000	0.35165	0.5877:0.3539:0.0:0.0583	11.987	0.52446	867	0.32089	.;.;.;.	.	.	.	.	rs151322829	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.08333	1877.83	33	chr15	30905792	.	C	T	1877.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.484;DP=344;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.598;SOR=0.689	GT:AD:DP:GQ:PL	0/1:65,76:141:99:1888,0,1475	5	0	1	0
chr15	33154302	33154302	A	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon4:c.T613G:p.S205A,FMN1:NM_001277314:exon4:c.T613G:p.S205A	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00547043749723	.	0.000199681	0.0001	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs530336921	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	9.664e-05	0.0008	0.0006	3.165e-05	2.801e-05	7.942e-05	0	0	0.0016	9.825e-05	0.0001	0.0005	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0002	2.556e-05	1.829e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.031	0.45039	D	0.229	0.55759	T	.	.	.	.	.	.	0.048700	0.23229	N	0.373374	.	.	.	0.975	0.24501	L	0.19	0.60236	T	-1.43	0.46337	N	0.15	0.15328	-1.0450	0.15825	T	0.059	0.24871	T	8	0.023664713	0.00626	T	0.00547	0.14075	T	0.100	0.28662	0.1	0.01484	0.344945010812	0.34105	0.20371111201020664	0.20288	.	.	0.267574906349	0.05826	T	0.097258	0.39989	T	-0.33217	0.05949	T	-0.406048	0.32682	T	0.0654977485537529	0.08005	T	.	.	.	0.04468667	0.07186	0.057427168	0.10437	0.04468667	0.07186	0.057427168	0.10437	-4.216	0.26983	T	.	.	0.084	0.22208	B	.;.;.;.	.;.;.;.	1.292380	0.16934	12.86	0.92274494267795759	0.21659	0.13099	0.17662	N	AEFDBI	0.129914	0.24827	N	-1.0589473389679	0.07413	0.3442902	-1.07542947939092	0.08185	0.401378	0.99995389564356	0.48110	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.14	1.43	0.21585	0.212000	0.17289	1.727000	0.28301	0.756000	0.94297	0.004000	0.16614	0.999000	0.35428	0.840000	0.39645	0.5138:0.1459:0.1778:0.1624	1.087	0.01552	887	0.27948	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	991.83	43	chr15	33154302	.	A	C	991.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.93;DP=303;ExcessHet=0;FS=2.818;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.841;SOR=0.434	GT:AD:DP:GQ:PL	0/1:53,38:91:99:1002,0,1460	5	0	1	0
chr15	34982083	34982083	A	C	exonic	ZNF770	.	nonsynonymous SNV	ZNF770:NM_014106:exon3:c.T1352G:p.F451C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00628803265315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.21	0.26714	T	0.979	0.59044	D	0.533	0.48638	P	0.131441	0.18622	N	0.525534	0.995645	0.23238	N	2.28	0.64929	M	2.91	0.10008	T	-1.87	0.43717	N	0.448	0.48596	-1.0468	0.15303	T	0.025	0.10733	T	10	0.2601389	0.43459	T	0.006288	0.16522	T	0.179	0.44899	0.627	0.76254	0.0675242888579	0.06100	0.3345469562392054	0.33367	0.536020856062	0.50941	0.471168965101	0.34841	T	0.058551	0.30873	T	-0.118551	0.33359	T	-0.408067	0.32447	T	0.771440505981445	0.44526	D	0.712529	0.32403	T	0.078712724	0.17940	0.10735428	0.25844	0.078712724	0.17939	0.10735428	0.25843	-3.438	0.15573	T	.	.	0.137	0.29751	B	.	.	3.635315	0.51521	23.1	0.9862206733711274	0.43785	0.95425	0.64670	D	AEBCI	0.260610	0.37873	N	0.176384673019655	0.50065	3.200338	0.208877036302644	0.50339	3.22703	0.998447555729051	0.36977	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	3.1	0.34780	3.478000	0.52921	5.868000	0.50503	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.746:0.0:0.0:0.254	10.746	0.45383	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	.	.	.	.	.	.	.	.	0.08333	953.83	39	chr15	34982083	.	A	C	953.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.692;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.512;SOR=0.744	GT:AD:DP:GQ:PL	0/1:52,37:89:99:964,0,1458	5	0	1	0
chr15	34982383	34982383	A	G	exonic	ZNF770	.	nonsynonymous SNV	ZNF770:NM_014106:exon3:c.T1052C:p.L351S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00394306500306	.	0.000199681	2.663e-05	0	0	0	0	4.911e-05	0	0	2.59e-05	4	154602	rs201014984	2.54e-05	2.531e-05	2.048e-05	3.037e-05	0.0002	1.874e-05	1.636e-05	2.12e-05	1.864e-05	0	6.884e-05	0	0	0	0.0002	2.972e-05	0	0	2.627e-05	2.625e-05	3.855e-05	1.343e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.454	0.08891	T	0.419	0.14158	T	0.022	0.18677	B	0.01	0.14941	B	0.014628	0.28476	N	0.150804	0.999966	0.18878	N	1.26	0.31868	L	3.06	0.08634	T	0.68	0.02228	N	0.091	0.06990	-0.9859	0.33615	T	0.013	0.04890	T	10	0.03548658	0.01799	T	0.003943	0.09305	T	0.059	0.16972	.	.	0.043077524339	0.03247	0.2073852515470862	0.20654	0.179181438304	0.20162	0.286172777414	0.08368	T	0.015175	0.12778	T	-0.383274	0.02971	T	-0.678265	0.07089	T	0.0658029913902283	0.08049	T	0.445855	0.12478	T	0.024976626	0.01384	0.03172013	0.01801	0.024976626	0.01384	0.03172013	0.01801	-3.351	0.14404	T	.	.	0.164	0.36134	B	.	.	1.373818	0.17843	13.40	0.71645070014895962	0.09699	0.63257	0.32033	D	AEFBCI	0.063450	0.12262	N	-0.443539635189629	0.23959	1.290363	-0.282494022952153	0.28674	1.600619	0.999136654289089	0.38535	0.732398	0.92422	0	0.724815	0.89359	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.55	4.43	0.52967	1.175000	0.31553	6.003000	0.52520	0.756000	0.94297	0.976000	0.34826	1.000000	0.68203	0.487000	0.28723	0.8313:0.0:0.1687:0.0	8.607	0.32940	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	0.001008	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.08333	542.83	39	chr15	34982383	.	A	G	542.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.53;DP=256;ExcessHet=0;FS=0.999;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=1.4;SOR=0.874	GT:AD:DP:GQ:PL	0/1:40,22:62:99:553,0,1112	5	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	581.98	37	chr15	40356171	.	T	*	581.98	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.46;DP=255;ExcessHet=3.1439;FS=22.072;MLEAC=2;MLEAF=0.167;MQ=59.06;MQRankSum=1.45;QD=3.61;ReadPosRankSum=-0.195;SOR=2.081	GT:AD:DP:GQ:PL	0/1:32,18:50:99:519,0,1196	4	0	2	0
chr15	40356189	40356255	ACCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	714.23	29	chr15	40356189	.	ACCCCCTGGCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCACCATGGTCCAGGGCCCTGCGGGCCT	*	714.23	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.941;DP=341;ExcessHet=1.383;FS=26.684;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=2.78;SOR=1.609	GT:AD:DP:GQ:PL	0/1:32,18:50:99:519,0,1196	4	0	2	0
chr15	41818902	41818902	C	T	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_001265611:exon20:c.C2236T:p.R746W,MAPKBP1:NM_014994:exon20:c.C2236T:p.R746W,MAPKBP1:NM_001128608:exon21:c.C2254T:p.R752W	Nephronophthisis 20, Autosomal recessive	431	1045	44	2	0	48	0.0224509	.	.	.	714428	not_provided|Nephronophthisis_20	MedGen:C3661900|MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0005	0.00319489	0.0031	0.0003	0.0007	0.0002	0	0.0009	0.0055	0.0177	0.0026649	412	154602	rs61729964	0.0015	0.0015	0.0010	0.0020	0.0166	0.0015	0.0015	0.0159	0.0156	0.0001	0.0006	0.0001	0.0001	5.619e-05	0.0090	0.0005	0.0018	0.0166	0.0010	0.0010	0.0008	0.0012	0.0158	0.0009	0.0008	0.0129	0.0119	4.81e-05	0	0.0008	0	0	0	0.0068	0.0008	0.0009	0.0158	0.021	0.49117	D	0.077	0.45530	T	0.021	0.18474	B	0.01	0.14941	B	0.048196	0.23275	N	0.333669	0.663262	0.30430	N	1.5	0.37844	L	1.07	0.39586	T	-3.01	0.62518	D	0.403	0.46742	-1.0138	0.25720	T	0.066	0.27364	T	10	0.005826086	0.00130	T	.	.	.	0.107	0.30369	.	.	0.184605227958	0.18053	0.4446293006906201	0.44380	0.768764430126	0.64661	0.371921271086	0.21108	T	0.137811	0.47096	T	-0.454713	0.01059	T	-0.412966	0.31884	T	0.0387262621537389	0.03461	T	0.849515	0.53247	T	0.086063445	0.19991	0.094566636	0.22389	0.088173196	0.20559	0.08228859	0.18767	-8.594	0.65049	D	.	.	0.149	0.32898	B	.;.;.	.;.;.	2.994304	0.39986	21.1	0.99809025248273031	0.89264	0.96210	0.68040	D	AEFGBI	0.497589	0.53205	N	-0.545389096938561	0.20628	1.088857	-0.387247725204634	0.25376	1.395155	0.969351297903443	0.29122	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.14	4.23	0.49319	2.484000	0.44900	2.215000	0.31401	-0.190000	0.09434	1.000000	0.71638	1.000000	0.68203	0.247000	0.23184	0.0:0.919:0.0:0.081	11.962	0.52303	214	0.91692	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.011078	0.010101	0.002717	0.005848	0.000000	0.017241	0.021341	0.022727	0.08333	1710.83	36	chr15	41818902	.	C	T	1710.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.59;DP=333;ExcessHet=0;FS=1.315;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.709;SOR=0.869	GT:AD:DP:GQ:PL	0/1:72,70:144:99:1721,0,1650	5	0	1	0
chr15	41879747	41879747	C	-	exonic	SPTBN5	.	frameshift deletion	SPTBN5:NM_016642:exon15:c.2929delG:p.E977Nfs*2	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0004	2.3e-07	9e-08	6.22e-05	2.569e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1121.79	40	chr15	41879746	.	TC	T	1121.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.78;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.468;SOR=0.681	GT:AD:DP:GQ:PL	0/1:61,39:100:99:1132,0,1966	5	0	1	0
chr15	42329305	42329305	G	T	splicing	GANC	NM_198141:exon14:c.1501-1G>T	.	.	.	428	1093	1	0	0	1	0.000457247	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422205569	2.741e-06	3.42e-06	2.727e-06	2.755e-06	3.601e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.601e-06	0	0	6.572e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432057	0.91636	D	0.382843	0.91533	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.500663	0.91581	32	0.99413229629811062	0.63405	0.99455	0.96243	D	AEFDBI	.	.	.	1.21826081023916	0.99700	25.45772	1.06257911921415	0.99513	23.35007	0.999999999999961	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.078618	0.02440	0	0.109871	0.03346	0	0.984529	0.91788	5.07	5.07	0.68106	9.973000	0.99140	11.668000	0.94068	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.442	0.90616	528	0.73785	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	974.83	33	chr15	42329305	.	G	T	974.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.774;DP=249;ExcessHet=0;FS=1.79;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.864;SOR=0.498	GT:AD:DP:GQ:PL	0/1:43,40:83:99:985,0,1100	5	0	1	0
chr15	42528419	42528419	C	T	exonic	SNAP23	.	nonsynonymous SNV	SNAP23:NM_003825:exon6:c.C424T:p.R142C	.	429	1081	12	0	0	12	0.00551978	0.9859	0.904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.0133209585191	.	0.000199681	0.0003	0	0.0003	0	0	0.0001	0.0011	0.0013	0.0002264	35	154602	rs138813563	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	0	0.0002	0.0008	2.519e-05	0	0.0026	0.0001	0.0002	0.0012	0.0001	0.0001	0.0001	0.0001	0.0008	8.658e-05	7.251e-05	0.0003	0.0002	4.812e-05	0	6.537e-05	0.0014	0.0002	0	0	0.0001	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	.	.	.	-6.8	0.93329	D	0.697	0.70175	-0.0175	0.81890	T	0.463	0.79223	T	9	0.2709906	0.44633	T	0.013321	0.32631	T	0.408	0.72022	.	.	0.536231820724	0.53273	0.8337852390099364	0.83337	1.07623771461	0.76979	0.658186912537	0.61149	T	0.833209	0.96038	D	0.0712392	0.61000	D	0.279113	0.87075	D	0.557890355587006	0.34775	D	0.957038	0.83775	D	0.81554246	0.84921	0.62362677	0.78067	0.81554246	0.84922	0.62362677	0.78067	-11.675	0.83232	D	.	.	0.151	0.42848	B	.;.	.;.	6.346805	0.95056	34	0.99935348248226652	0.99579	0.90456	0.51647	D	AEFBI	0.462435	0.51178	N	0.748731593673055	0.82822	7.858641	0.708996522922809	0.83062	7.924159	0.999482276470773	0.39952	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.83	5.83	0.93059	1.825000	0.38720	3.978000	0.40881	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.1515:0.8485:0.0:0.0	13.961	0.63688	92	0.96160	SNAP-25|Target SNARE coiled-coil homology domain;SNAP-25	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001017	0.000000	0.001359	0.000000	0.000000	0.000000	0.003145	0.000000	0.08333	404.83	38	chr15	42528419	.	C	T	404.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.977;SOR=0.693	GT:AD:DP:GQ:PL	0/1:19,16:35:99:415,0,430	5	0	1	0
chr15	43207238	43207238	G	A	exonic	EPB42	.	nonsynonymous SNV	EPB42:NM_000119:exon9:c.C1369T:p.R457C,EPB42:NM_001114134:exon9:c.C1279T:p.R427C	Spherocytosis, type 5	0	1513	9	0	0	9	0.0029654	.	.	.	255218	not_provided|not_specified|Hereditary_spherocytosis_type_5	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.127	0.0150273381744	0.0029	0.00219649	0.0027	0.0011	0.0030	0	0.0006	0.0040	0.0033	0.0005	0.0030077	465	154602	rs45594632	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0057	0.0057	0.0009	0.0035	0.0026	0	0.0003	0.0040	0.0059	0.0043	0.0005	0.0029	0.0029	0.0031	0.0027	0.0051	0.0027	0.0026	0.0042	0.0039	0.0007	0	0.0051	0.0032	0.0002	0.0005	0.0136	0.0045	0.0043	0.0012	0.073	0.35918	T	0.221	0.32568	T	0.456	0.40571	P	0.081	0.29943	B	0.000080	0.52346	N	0.173924	0.999386	0.46865	D	2.44	0.70756	M	0.72	0.50976	T	-4.46	0.79399	D	0.273	0.34981	-1.0205	0.23551	T	0.070	0.28478	T	10	0.009778529	0.00220	T	0.015027	0.35522	T	0.127	0.34888	.	.	0.684028224155	0.68133	0.7049077322788614	0.70432	.	.	0.284432560205	0.08118	T	0.547313	0.84608	D	-0.38715	0.02806	T	-0.322918	0.42255	T	0.0443040641848691	0.04475	T	0.844016	0.52137	T	0.18646301	0.40056	0.16046575	0.37374	0.18646301	0.40056	0.16046575	0.37373	-5.135	0.42139	T	0.8031480437111392	0.87949	0.097	0.29995	B	.;.;.;.;.	.;.;.;.;.	4.230720	0.64060	24.7	0.99928634985142495	0.99222	0.45219	0.27490	N	AEFGBCI	0.510472	0.53951	D	-0.0478384161797629	0.39698	2.345351	0.0287026528778901	0.41052	2.460062	0.997380856824466	0.35561	0.603402	0.35316	0	0.563428	0.19063	0	0.573078	0.19857	0	0.663205	0.64265	0	.	.	5.87	4.97	0.65419	1.535000	0.35667	5.201000	0.47933	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0809:0.0:0.7595:0.1596	7.857	0.28653	16	0.98727	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.005848	0.000000	0.008621	0.012195	0.000000	0.08333	1443.83	33	chr15	43207238	.	G	A	1443.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.66;DP=285;ExcessHet=0;FS=0.707;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.671;SOR=0.598	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1454,0,1374	5	0	1	0
chr15	43328938	43328938	T	C	exonic	LCMT2	.	nonsynonymous SNV	LCMT2:NM_014793:exon1:c.A1552G:p.T518A	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0184763568371	0.0033	0.00299521	0.0032	0.0009	0.0034	0	0.0006	0.0047	0.0055	0.0007	0.0033311	515	154602	rs45530831	0.0050	0.0050	0.0051	0.0049	0.0057	0.0049	0.0048	0.0056	0.0055	0.0008	0.0040	0.0123	0	0.0008	0.0045	0.0057	0.0051	0.0008	0.0034	0.0034	0.0036	0.0033	0.0061	0.0032	0.0031	0.0051	0.0047	0.0007	0	0.0061	0.0156	0.0002	0.0006	0.0136	0.0047	0.0047	0.0015	0.462	0.08685	T	0.593	0.08134	T	0.817	0.45613	P	0.217	0.37636	B	0.232889	0.15880	N	0.638709	1	0.20581	N	2.43	0.70455	M	-0.54	0.70950	T	-1.12	0.28906	N	0.094	0.07398	-0.9412	0.42426	T	0.126	0.43215	T	10	0.0071617067	0.00163	T	0.018476	0.40558	T	0.090	0.26093	.	.	0.307332253619	0.30352	0.23474792520774915	0.23389	0.178114734319	0.20035	0.400980174541	0.25205	T	0.034674	0.23413	T	-0.46088	0.00971	T	-0.431073	0.29812	T	0.015439965984036	0.00347	T	0.310069	0.06017	T	0.055001818	0.10631	0.025971876	0.00663	0.055001818	0.10631	0.025971876	0.00663	-4.639	0.32658	T	.	.	0.106	0.19559	B	.	.	2.160291	0.27519	17.49	0.84157553750315472	0.15129	0.25076	0.22589	N	AEFGBC	0.046109	0.07619	N	-0.594213747012099	0.19119	0.9981681	-0.630397056174975	0.18713	1.000918	0.999908018908007	0.45458	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.605231	0.38476	0	.	.	5.66	0.783	0.17717	0.532000	0.22776	3.497000	0.38753	-0.171000	0.11205	0.931000	0.32310	1.000000	0.68203	0.597000	0.31313	0.1633:0.2636:0.0:0.5731	3.380	0.06828	15	0.98792	.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005051	0.002717	0.005848	0.000000	0.008621	0.021341	0.000000	0.08333	1956.83	33	chr15	43328938	.	T	C	1956.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.66;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.779;SOR=0.676	GT:AD:DP:GQ:PL	0/1:82,75:157:99:1967,0,2038	5	0	1	0
chr15	43528837	43528837	C	T	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.C7364T:p.P2455L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.04740422722	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs540588007	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.066	0.44501	T	0.97	0.56973	D	0.88	0.62516	P	.	.	.	.	1	0.81001	D	2.625	0.76847	M	3.75	0.03951	T	-3.6	0.72240	D	0.702	0.70615	-1.1298	0.01792	T	0.032	0.13592	T	9	0.51786256	0.62470	D	0.047404	0.62906	D	0.309	0.63055	0.238	0.16912	0.134007934775	0.12933	0.4825560653929139	0.48175	0.758043564616	0.64103	0.648653566837	0.59794	T	0.264215	0.63596	T	0.053769	0.58826	T	-0.160541	0.58304	T	0.990996087173721	0.81240	D	0.853715	0.53946	D	0.34182122	0.56424	0.3487878	0.60514	0.34182122	0.56424	0.3487878	0.60513	-3.343	0.14298	T	.	.	0.221	0.45224	B	.;.	.;.	4.283940	0.65277	24.8	0.99634433528410926	0.76264	0.98269	0.81111	D	AEFDBCI	0.897227	0.83917	D	0.568444170652562	0.71211	5.616657	0.572557729714271	0.72979	5.896058	0.999999999999998	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.63	4.63	0.57175	7.663000	0.82798	6.015000	0.52706	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.883000	0.42306	0.0:1.0:0.0:0.0	17.672	0.88127	19	0.98577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1463.83	37	chr15	43528837	.	C	T	1463.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.717;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.929;SOR=0.665	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1474,0,2137	5	0	1	0
chr15	55672580	55672580	C	G	exonic	PRTG	.	nonsynonymous SNV	PRTG:NM_173814:exon11:c.G1906C:p.V636L	.	437	1080	5	0	0	5	0.00230947	.	.	.	703259	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0075	0.00239617	0.0072	0.0017	0.0056	0.0001	0.0148	0.0097	0.0078	0.0022	0.0068175	1054	154602	rs149494002	0.0087	0.0087	0.0088	0.0085	0.0098	0.0085	0.0085	0.0096	0.0096	0.0016	0.0043	0.0004	5.039e-05	0.0143	0.0014	0.0098	0.0082	0.0027	0.0062	0.0062	0.0064	0.0060	0.0095	0.0059	0.0057	0.0089	0.0087	0.0018	0	0.0033	0.0006	0	0.0135	0.0068	0.0095	0.0038	0.0023	0.113	0.28772	T	0.276	0.22359	T	0.071	0.23930	B	0.038	0.23361	B	0.002061	0.37364	N	0.232951	0.999854	0.49910	D	1.82	0.47800	L	1.96	0.22270	T	-1.6	0.46842	N	0.587	0.60749	-1.1330	0.01644	T	0.040	0.17277	T	10	0.006695509	0.00152	T	.	.	.	0.085	0.24743	0.507	0.60232	0.342631996419	0.33872	0.6183329705583821	0.61766	0.160112996357	0.18061	0.612492501736	0.54668	T	0.065569	0.32721	T	-0.337909	0.05535	T	-0.251053	0.49714	T	0.00679731370280906	0.00077	T	0.869313	0.57326	D	0.1595642	0.35837	0.17360745	0.39699	0.1595642	0.35836	0.17360745	0.39698	-7.412	0.56989	T	.	.	0.341	0.55978	A	.;.	.;.	3.719838	0.53147	23.3	0.99247667342241963	0.56759	0.98198	0.80457	D	AEFBI	0.650962	0.62488	D	0.0629097893960828	0.44739	2.742448	0.232147999281446	0.51640	3.344773	0.997794014938111	0.36039	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	4.661000	0.61213	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	18.678	0.91497	596	0.68392	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	2518.06	34	chr15	55672580	.	C	G	2518.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.224;DP=281;ExcessHet=0.4139;FS=1.488;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=1.58;SOR=0.875	GT:AD:DP:GQ:PL	0/1:25,38:63:99:1050,0,639	4	0	2	0
chr15	62164783	62164783	C	G	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.G202C:p.A68P	.	421	1013	82	6	0	94	0.0443396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	0.0036	0.0139776	0.0439	0.0102	0.0222	0	0.0455	0.0300	0.0323	0.0540	0.0054656	845	154602	rs146941362	0.0098	0.0096	0.0089	0.0107	0.0407	0.0097	0.0096	0.0395	0.0390	0.0021	0.0047	0.0178	0.0004	0.0038	0.0368	0.0082	0.0114	0.0407	0.0069	0.0069	0.0066	0.0072	0.0415	0.0065	0.0064	0.0368	0.0350	0.0027	0.0077	0.0052	0.0173	0.0010	0.0045	0.0171	0.0075	0.0104	0.0415	0.263	0.16412	T	0.197	0.27855	T	0.863	0.47474	P	0.562	0.49608	P	0.717320	0.09964	U	0.841107	1	0.08975	N	1.445	0.36358	L	-3.27	0.93640	D	-1.54	0.37375	N	0.119	0.10911	-0.3071	0.74787	T	0.494	0.80816	T	10	0.002736181	0.00043	T	.	.	.	0.297	0.61730	.	.	.	.	0.08612991599421099	0.08546	1.94099853373	0.93232	0.790393352509	0.80503	T	0.006496	0.05931	T	-0.404157	0.02174	T	-0.321904	0.42365	T	0.0249916728120931	0.01272	T	0.435556	0.11926	T	0.14233036	0.32760	0.19578515	0.43275	0.14233036	0.32759	0.19578515	0.43274	-3.454	0.15794	T	.	.	0.087	0.11269	B	.	.	0.845048	0.12171	8.717	0.9855664577571297	0.42922	0.12150	0.17090	N	AEFDBCIJ	0.321505	0.42428	N	-0.642543929129143	0.17678	0.9116954	-0.842017092142143	0.13479	0.6994675	0.999950864942535	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.581474	0.35302	0	.	.	3.25	-0.0685	0.13088	-0.595000	0.05822	-0.498000	0.08819	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1906:0.4752:0.0:0.3342	3.087	0.05904	277	0.89083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027244	0.005882	0.022857	0.024242	0.000000	0.045455	0.013158	0.067460	0.1667	1544.06	48	chr15	62164783	.	C	G	1544.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.507;DP=272;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.35;SOR=0.728	GT:AD:DP:GQ:PL	0/1:28,24:52:99:570,0,660	4	0	2	0
chr15	67465269	67465269	C	T	exonic	IQCH	.	nonsynonymous SNV	IQCH:NM_001322472:exon11:c.C1427T:p.T476I,IQCH:NM_001284347:exon12:c.C1619T:p.T540I,IQCH:NM_001322474:exon12:c.C1664T:p.T555I,IQCH:NM_001322470:exon13:c.C1856T:p.T619I,IQCH:NM_001322473:exon13:c.C1856T:p.T619I,IQCH:NM_001284348:exon14:c.C1631T:p.T544I,IQCH:NM_001322475:exon14:c.C1856T:p.T619I,IQCH:NM_001031715:exon17:c.C2648T:p.T883I	.	429	1072	19	2	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0007	0.00499201	0.0035	0.0002	0.0004	0	0.0002	0.0006	0.0066	0.0221	0.0031047	480	154602	rs36067711	0.0018	0.0018	0.0011	0.0024	0.0220	0.0017	0.0017	0.0212	0.0209	0.0001	0.0006	0.0009	0	0.0001	0.0045	0.0004	0.0021	0.0220	0.0012	0.0012	0.0008	0.0017	0.0258	0.0011	0.0010	0.0221	0.0207	0.0002	0	0.0003	0.0003	0.0002	0	0.0136	0.0006	0.0019	0.0258	0.204	0.20607	T	0.194	0.28120	T	0.0	0.07471	B	0.002	0.06944	B	0.061213	0.02142	N	1.971120	1	0.08975	N	1.04	0.26193	L	0.89	0.45636	T	-1.48	0.36586	N	0.066	0.11197	-1.0332	0.19427	T	0.038	0.16290	T	10	0.0029875338	0.00049	T	.	.	.	0.020	0.03691	.	.	0.0138822411134	0.00435	0.23561869525893303	0.23476	0.108590475103	0.12248	0.276120305061	0.06957	T	0.046214	0.27356	T	-0.7134	0.00030	T	-0.780606	0.02435	T	0.0105919242418063	0.00148	T	0.467153	0.13745	T	0.028126314	0.02102	0.03579109	0.02898	0.028126314	0.02102	0.03579109	0.02898	-4.728	0.33742	T	.	.	0.099	0.19800	B	.;.;.	.;.;.	-1.750442	0.00175	0.003	0.81642553260835471	0.13787	0.01283	0.04476	N	AEFDGBI	0.040499	0.06034	N	-2.00195676999597	0.00210	0.008980746	-2.10308409786073	0.00184	0.008079054	0.999999999999998	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.05	-10.1	0.00330	-3.429000	0.00527	-5.629000	0.01650	-0.902000	0.02317	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1868:0.438:0.2202:0.155	1.579	0.02472	778	0.48011	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.001359	0.011696	0.000000	0.000000	0.009146	0.018939	0.1667	3136.06	39	chr15	67465269	.	C	T	3136.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.335;DP=396;ExcessHet=0.4139;FS=3.549;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.844;SOR=0.505	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1435,0,1797	4	0	2	0
chr15	71731206	71731206	A	G	exonic	THSD4	.	nonsynonymous SNV	THSD4:NM_001286429:exon4:c.A539G:p.H180R,THSD4:NM_024817:exon9:c.A1619G:p.H540R	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0112131552639	8.1e-05	.	5.815e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs373695471	2.599e-05	2.599e-05	1.906e-05	3.3e-05	0.0003	1.932e-05	1.692e-05	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	2.788e-05	1.656e-05	3.478e-05	2.626e-05	2.625e-05	2.569e-05	2.685e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.41e-05	0	0	0.153	0.53900	T	0.115	0.36630	T	0.112	0.26290	B	0.058	0.26451	B	0.296406	0.03927	N	1.458410	0.985091	0.41276	D	0.975	0.24501	L	0.12	0.61089	T	-1.96	0.45404	N	0.348	0.44187	-1.0496	0.14509	T	0.135	0.44933	T	10	0.18051457	0.33239	T	0.011213	0.28600	T	0.093	0.26882	.	.	0.388812400583	0.38497	0.5181091306558018	0.51733	0.142006430372	0.16011	0.405374735594	0.25815	T	0.03577	0.23847	T	-0.273838	0.11331	T	-0.433482	0.29541	T	0.0841530278064616	0.10509	T	0.724828	0.33863	T	0.056771718	0.11213	0.054882996	0.09522	0.056771718	0.11213	0.054882996	0.09521	-3.056	0.10798	T	.	.	0.078	0.06663	B	.;.	.;.	2.620450	0.34050	19.52	0.87000649897784565	0.16919	0.86853	0.46226	D	AEFDGBCI	0.535641	0.55418	D	-0.483949834684062	0.22607	1.208276	-0.371209004651618	0.25860	1.42474	0.999589597188298	0.40607	0.743674	0.98306	0	0.615948	0.52940	0	0.566861	0.19136	0	0.584449	0.35598	0	.	.	4.46	2.02	0.25641	3.815000	0.55355	3.860000	0.40132	-0.065000	0.16512	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.7183:0.0:0.0982:0.1835	4.618	0.11824	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	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	1488.83	36	chr15	71731206	.	A	G	1488.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=304;ExcessHet=0;FS=5.842;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.227;SOR=1.217	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1499,0,1322	5	0	1	0
chr15	72289289	72289289	T	C	splicing	CELF6	NM_001172684:exon8:c.881-2A>G;NM_052840:exon8:c.881-2A>G	.	.	.	363	1158	1	0	0	1	0.000431593	1.0000	0.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs779176827	4.382e-05	4.583e-05	3.921e-05	4.852e-05	0.0001	3.488e-05	3.166e-05	5.084e-05	3.283e-05	3.053e-05	2.647e-05	0	0.0001	0	0	4.294e-05	5.097e-05	6.145e-05	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	6.852e-05	2.866e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.302222	0.08451	T	-0.481514	0.24285	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.402194	0.47155	22.4	0.76843570732595579	0.11632	0.92199	0.55166	D	AEFDBI	.	.	.	0.38320040964616	0.60512	4.240842	0.0733793051189895	0.43216	2.627906	0.0297979835463002	0.13907	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.148506	0.27271	4.77	0.717	0.17352	1.883000	0.39293	1.938000	0.29812	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.504000	0.29107	0.4622:0.0:0.0:0.5378	9.515	0.38264	201	0.92177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	739.06	35	chr15	72289289	.	T	C	739.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.11;DP=189;ExcessHet=0.4139;FS=0.957;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.535;SOR=0.937	GT:AD:DP:GQ:PL	0/1:16,8:24:99:230,0,436	4	0	2	0
chr15	73885086	73885086	T	C	exonic	TBC1D21	.	nonsynonymous SNV	TBC1D21:NM_001286434:exon5:c.T454C:p.F152L,TBC1D21:NM_153356:exon6:c.T562C:p.F188L	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0119786309325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	2.736e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.0	0.92824	D	0.992	0.64738	D	0.987	0.77487	D	0.000018	0.62929	D	0.000000	0.959553	0.38133	D	1.1	0.28011	L	2.87	0.10386	T	-1.53	0.37178	N	0.699	0.72031	-1.0538	0.13359	T	0.042	0.18035	T	10	0.52583146	0.62903	D	0.011979	0.30135	T	0.168	0.42943	0.461	0.52916	0.271763555656	0.26798	0.7336949919126846	0.73314	0.931234632884	0.71824	0.707497477531	0.68231	T	0.02424	0.21053	T	-0.0377384	0.46285	T	-0.291985	0.45566	T	0.941236257553101	0.61429	D	0.851615	0.53551	D	0.14910896	0.34009	0.16313331	0.37859	0.14910896	0.34009	0.16313331	0.37859	-2.057	0.03737	T	.	.	0.929	0.86313	P	.;.;.	.;.;.	4.449642	0.69162	25.3	0.99794049038079313	0.87928	0.78860	0.38973	D	AEFBI	0.525264	0.54811	D	0.397484312286969	0.61287	4.327566	0.425710620281296	0.63172	4.54572	0.717142779137338	0.22888	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.01	5.01	0.66477	4.242000	0.58509	7.845000	0.70699	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	11.122	0.47518	554	0.71839	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	637.83	34	chr15	73885086	.	T	C	637.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.377;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.382;SOR=0.734	GT:AD:DP:GQ:PL	0/1:55,31:86:99:648,0,1416	5	0	1	0
chr15	76376173	76376173	G	T	exonic	SCAPER	.	nonsynonymous SNV	SCAPER:NM_001145923:exon29:c.C3106A:p.P1036T,SCAPER:NM_020843:exon29:c.C3844A:p.P1282T,SCAPER:NM_001353009:exon30:c.C3862A:p.P1288T,SCAPER:NM_001353010:exon30:c.C3442A:p.P1148T,SCAPER:NM_001353011:exon30:c.C3460A:p.P1154T,SCAPER:NM_001353012:exon30:c.C3442A:p.P1148T	.	9	1511	2	0	0	2	0.000661376	.	.	.	3509727	SCAPER-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.0033296938603	0.0003	0.000399361	0.0003	0	0	0	0	0.0004	0	0.0003	0.0002587	40	154602	rs201658000	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	4.472e-05	0.0034	0	0	0	9.174e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	0	0	0	0.0055	0	0	0	0.0002	0	0.0010	0.639	0.08212	T	0.918	0.23164	T	.	.	.	.	.	.	0.000002	0.62929	D	0.104145	0.976104	0.39246	D	1.92	0.51302	L	1.85	0.24841	T	-1.37	0.33998	N	0.354	0.39558	-1.0936	0.04959	T	0.045	0.19397	T	10	0.011371076	0.00249	T	0.00333	0.07421	T	0.025	0.05312	.	.	0.390060412749	0.38622	0.23575942146011358	0.23490	0.410785350422	0.41854	0.701834917068	0.67409	T	0.010532	0.09498	T	-0.395286	0.02486	T	-0.513428	0.20964	T	0.0708068311214447	0.08763	T	0.90081	0.65538	D	0.14646026	0.33526	0.11824492	0.28544	0.14646026	0.33525	0.11824492	0.28543	-5.383	0.40756	T	.	.	0.084	0.13644	B	.;.;.	.;.;.	3.092322	0.41643	21.4	0.76063755722947934	0.11319	0.95079	0.63361	D	AEFDGIJ	0.495006	0.53056	N	-0.0279954116684034	0.40591	2.413133	0.190832313781499	0.49344	3.138664	0.999999919526966	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.608524	0.38960	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	2.833000	0.47861	7.638000	0.63056	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1298:0.7355:0.1347	12.031	0.52694	666	0.61362	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	731.06	34	chr15	76376173	.	G	T	731.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.727;DP=265;ExcessHet=0.4139;FS=0.752;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=0.209;SOR=0.821	GT:AD:DP:GQ:PL	0/1:50,19:69:99:396,0,1258	4	0	2	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	41.89	26	chr15	77470925	.	G	C	41.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.621;DP=137;ExcessHet=0;FS=79.277;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=0.207;SOR=4.97	GT:AD:DP:GQ:PL	0/1:20,11:31:52:52,0,478	5	0	1	0
chr15	78025495	78025495	C	G	exonic	TBC1D2B	.	nonsynonymous SNV	TBC1D2B:NM_015079:exon5:c.G850C:p.V284L,TBC1D2B:NM_144572:exon5:c.G850C:p.V284L	.	443	1072	5	2	0	9	0.00418021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0029	0.0175719	0.0133	0.0016	0.0152	0.0868	0.0282	0.0064	0.0224	0.0031	0.0113065	1748	154602	rs78162825	0.0076	0.0075	0.0077	0.0075	0.0780	0.0075	0.0075	0.0757	0.0748	0.0011	0.0156	0.0018	0.0780	0.0261	0.0020	0.0045	0.0100	0.0037	0.0082	0.0082	0.0074	0.0090	0.0720	0.0078	0.0076	0.0660	0.0636	0.0013	0.0296	0.0091	0.0006	0.0720	0.0246	0	0.0052	0.0099	0.0029	0.295	0.14743	T	0.358	0.17166	T	0.0	0.02946	B	0.0	0.06944	B	0.089432	0.20428	N	0.547632	1	0.08975	N	0.85	0.21244	L	3.14	0.07920	T	-0.09	0.08340	N	0.036	0.01068	-0.9594	0.39293	T	0.002	0.00646	T	10	0.0013072789	0.00014	T	.	.	.	0.081	0.23632	0.041	0.00037	.	.	0.17463556954092851	0.17382	0.262192732783	0.28783	0.328629881144	0.14726	T	0.00291	0.02768	T	-0.693615	0.00040	T	-0.703162	0.05655	T	0.00757326381172157	0.00088	T	0.644736	0.25622	T	0.03274336	0.03357	0.03610186	0.02989	0.03274336	0.03356	0.03610186	0.02988	-3.169	0.12322	T	.	.	0.086	0.21987	B	.;.;.	.;.;.	1.027955	0.14078	10.65	0.915796467345807	0.20861	0.07433	0.13450	N	AEFBI	0.049559	0.08574	N	-0.758324555770469	0.14408	0.7174576	-0.723979710650468	0.16364	0.8653307	0.999625377689843	0.41093	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.39	0.972	0.18824	-0.064000	0.11593	0.160000	0.15395	-0.218000	0.08083	0.186000	0.24138	0.001000	0.17328	0.991000	0.66497	0.0:0.4555:0.1351:0.4094	5.968	0.18568	777	0.48198	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.007576	0.1667	572.06	23	chr15	78025495	.	C	G	572.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.508;DP=142;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.108;SOR=0.701	GT:AD:DP:GQ:PL	0/1:11,10:21:99:302,0,326	4	0	2	0
chr15	81319351	81319351	T	C	exonic	STARD5	.	nonsynonymous SNV	STARD5:NM_181900:exon4:c.A388G:p.I130V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0124853905124	0.0006	0.000199681	0.0006	0.0005	0.0018	0	0.0002	0.0006	0.0011	0.0005	0.0005304	82	154602	rs143662006	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	8.963e-05	0.0008	0	0	9.36e-05	0.0003	0.0007	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	6.533e-05	0	0	0	0.0034	0.0006	0.0014	0.0004	0.708	0.04069	T	0.656	0.06598	T	0.009	0.15093	B	0.035	0.22741	B	0.000366	0.45194	D	0.188519	0.789777	0.29239	N	1.9	0.50570	L	-1.14	0.77843	T	-0.41	0.14000	N	0.222	0.24883	-0.8271	0.53486	T	0.280	0.65219	T	10	0.02822408	0.00957	T	0.012485	0.31090	T	0.164	0.42212	.	.	0.480274617672	0.47656	0.38265672614642693	0.38180	0.1251482573	0.14108	0.408055126667	0.26188	T	0.010116	0.09163	T	-0.319159	0.06966	T	-0.334316	0.40987	T	0.00401589249432638	0.00043	T	0.741926	0.36121	T	0.091514565	0.21446	0.05982417	0.11294	0.091514565	0.21446	0.05982417	0.11293	-4.186	0.26548	T	.	.	0.074	0.04975	B	.	.	1.263467	0.16614	12.65	0.72067584920340289	0.09844	0.70015	0.34418	D	AEFBCI	0.140681	0.26265	N	-0.613915136344802	0.18526	0.9624994	-0.564755144033833	0.20415	1.099771	0.999790775542854	0.43153	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.95	1.16	0.19936	1.422000	0.34434	-0.011000	0.13060	0.609000	0.47794	0.996000	0.39380	0.891000	0.27831	0.954000	0.50415	0.1312:0.0:0.2842:0.5846	7.300	0.25587	889	0.27310	START domain|START domain|START 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	.	.	.	.	.	.	.	.	0.1667	2958.06	33	chr15	81319351	.	T	C	2958.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.976;DP=341;ExcessHet=0.4139;FS=1.808;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.643;SOR=0.549	GT:AD:DP:GQ:PL	0/1:29,65:94:99:1659,0,629	4	0	2	0
chr15	82345024	82345038	CGTAGCCTCTCCTCC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.822_836del:p.Q274_C279delinsH,GOLGA6L10:NM_001322400:exon6:c.822_836del:p.Q274_C279delinsH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453486399	7.933e-06	6.375e-05	6.933e-06	8.968e-06	8.788e-06	3.73e-06	2.7e-06	3.78e-06	2.73e-06	0	0	0	0	0	0	8.788e-06	2.263e-05	0	3.598e-05	0.0001	2.285e-05	5.048e-05	7.277e-05	9.56e-06	4.65e-06	1.93e-05	1.035e-05	0	0	0	0	0	0	0	7.277e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	77.79	20	chr15	82345023	.	ACGTAGCCTCTCCTCC	A	77.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.67;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=42.09;MQRankSum=-0.208;QD=3.24;ReadPosRankSum=-1.532;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:88:0|1:82345023_ACGTAGCCTCTCCTCC_A:88,0,594:82345023	5	0	1	0
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	218.99	20	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	218.99	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=287;ExcessHet=0;FS=1.411;MLEAC=1;MLEAF=0.083;MQ=41.83;MQRankSum=1.42;QD=15.64;ReadPosRankSum=-1.49;SOR=1.202	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,5:21:99:.:.:939,232,243:.	5	0	1	0
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	218.99	20	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	218.99	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.79;DP=287;ExcessHet=0;FS=1.411;MLEAC=1;MLEAF=0.083;MQ=41.83;MQRankSum=1.42;QD=15.64;ReadPosRankSum=-1.49;SOR=1.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,8:21:99:.:.:939,300,896:.	5	0	1	0
chr15	88871510	88871510	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon13:c.G6961A:p.V2321I,ACAN:NM_013227:exon14:c.G7075A:p.V2359I,ACAN:NM_001369268:exon15:c.G7189A:p.V2397I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	3	1516	2	1	0	4	0.00131752	.	.	YES	439186	Inborn_genetic_diseases|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.00347553905536	0.0011	0.000199681	0.0008	0.0002	0.0006	0	0	0.0011	0.0012	0.0005	0.0007697	119	154602	rs150555123	0.0012	0.0012	0.0012	0.0012	0.0014	0.0012	0.0011	0.0014	0.0013	0.0003	0.0010	0.0005	0	7.512e-05	0.0002	0.0014	0.0012	0.0003	0.0009	0.0009	0.0010	0.0008	0.0020	0.0008	0.0007	0.0014	0.0012	0.0002	0	0.0020	0.0006	0	0	0	0.0014	0.0005	0	0.843	0.07071	T	0.781	0.06788	T	.	.	.	.	.	.	0.010616	0.29855	N	0.000000	0.999999	0.08975	N	.	.	.	2.32	0.16640	T	-0.39	0.13611	N	0.136	0.20660	-1.0024	0.29226	T	0.021	0.08917	T	10	0.019824654	0.00448	T	0.003476	0.07847	T	0.041	0.10877	.	.	0.0675242888579	0.06100	0.5396566820515746	0.53890	0.261733253027	0.28725	0.317637383938	0.13063	T	.	.	.	-0.686421	0.00044	T	-0.763388	0.02993	T	0.00835893870462146	0.00101	T	0.454355	0.15447	T	0.019203026	0.00447	0.029473625	0.01288	0.017440213	0.00272	0.027778026	0.00957	-2.405	0.07161	T	.	.	0.086	0.19800	B	.;.;.;.;.;.	.;.;.;.;.;.	0.245519	0.06252	2.707	0.97751645658308861	0.35745	0.20724	0.21145	N	AEFDBCI	0.094997	0.19200	N	-0.17876720219888	0.34020	1.936805	-0.126960422530195	0.34307	1.971984	0.785066180036367	0.23915	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.59	3.68	0.41359	0.206000	0.17174	0.415000	0.18155	-0.127000	0.13314	0.360000	0.25842	0.010000	0.20010	0.607000	0.31564	0.1699:0.3074:0.5227:0.0	5.737	0.17339	964	0.07719	C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-like domain;.;.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Aggrecan/versican, C-type lectin-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	0.002541	0.000000	0.006812	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1483.06	33	chr15	88871510	.	G	A	1483.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.13;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.674;SOR=0.735	GT:AD:DP:GQ:PL	0/1:35,27:62:99:706,0,755	4	0	2	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4264.94	39	chr15	89776903	.	AGGGCAGGGGCAG	*	4264.94	.	AC=6;AF=0.5;AN=12;DP=215;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;QD=24.8;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27:27:84:.:.:1221,84,0:.	2	2	2	0
chr15	90765340	90765340	C	T	exonic	BLM	.	nonsynonymous SNV	BLM:NM_000057:exon9:c.C2119T:p.P707S,BLM:NM_001287247:exon9:c.C2119T:p.P707S,BLM:NM_001287248:exon9:c.C994T:p.P332S,BLM:NM_001287246:exon10:c.C2119T:p.P707S	Bloom syndrome, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	132939	BLM-related_disorder|not_specified|Hereditary_cancer-predisposing_syndrome|not_provided|Bloom_syndrome	.|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0008876,MedGen:C0005859,OMIM:210900,Orphanet:125	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.284	0.0184591890883	0.0016	0.000998403	0.0016	0.0004	0.0016	0	0.0003	0.0022	0.0022	0.0012	0.00174	269	154602	rs146077918	0.0020	0.0020	0.0020	0.0021	0.0023	0.0020	0.0019	0.0022	0.0022	0.0004	0.0018	0.0009	2.52e-05	0.0004	0.0021	0.0023	0.0019	0.0016	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0014	0.0023	0.0022	0.0003	0.0044	0.0029	0.0012	0	0.0003	0	0.0026	0.0019	0.0010	0.095	0.31235	T	0.323	0.27679	T	0.018	0.17786	B	0.047	0.24832	B	0.000065	0.52346	D	0.168793	0.999987	0.54805	D	0.98	0.24916	L	-0.97	0.75670	T	-4.41	0.79659	D	0.153	0.19459	-0.8053	0.54831	T	0.226	0.59007	T	10	0.014493585	0.00305	T	0.018459	0.40531	T	0.284	0.60219	.	.	0.864008763442	0.86269	0.5265579632617995	0.52579	0.102639998988	0.11614	0.454432964325	0.32550	T	0.228798	0.59444	T	-0.294338	0.09205	T	-0.194619	0.55155	T	0.0430593173252616	0.04249	T	0.950905	0.81262	D	0.32163432	0.54777	0.41443408	0.65587	0.42169252	0.62205	0.435562	0.67038	-6.941	0.53602	T	0.14693495229786818	0.16988	0.082	0.18622	B	.;.	.;.	2.618897	0.34026	19.51	0.99203767697127287	0.55351	0.93001	0.57076	D	AEFBI	0.468795	0.51545	N	-0.160683240991684	0.34782	1.989516	0.0668568496794711	0.42895	2.602599	0.999999981836099	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.6	5.6	0.84997	1.661000	0.37024	3.975000	0.40857	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.123	0.86585	636	0.64483	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.1667	917.06	33	chr15	90765340	.	C	T	917.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.901;DP=200;ExcessHet=0.4139;FS=1.821;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.701;SOR=0.481	GT:AD:DP:GQ:PL	0/1:20,16:36:99:334,0,484	4	0	2	0
chr15	90876318	90876318	C	T	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon3:c.C241T:p.R81C,FURIN:NM_001289824:exon3:c.C241T:p.R81C,FURIN:NM_001382619:exon3:c.C241T:p.R81C,FURIN:NM_001382620:exon3:c.C241T:p.R81C,FURIN:NM_001382621:exon3:c.C241T:p.R81C,FURIN:NM_001382622:exon3:c.C241T:p.R81C,FURIN:NM_002569:exon3:c.C241T:p.R81C	.	364	1140	17	1	0	19	0.00826446	.	.	.	2814491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0023	0.00199681	0.0027	0.0002	0.0043	0	0	0.0040	0.0022	0.0005	0.0025226	390	154602	rs148110342	0.0019	0.0019	0.0018	0.0020	0.0187	0.0018	0.0018	0.0159	0.0148	0.0006	0.0041	0.0440	0.0003	1.883e-05	0.0187	0.0009	0.0046	0.0005	0.0023	0.0023	0.0022	0.0023	0.0059	0.0021	0.0020	0.0050	0.0046	0.0004	0	0.0059	0.0409	0.0002	0	0	0.0011	0.0076	0.0006	0.07	0.46513	T	0.174	0.70582	T	0.989	0.62824	D	0.586	0.50343	P	0.050699	0.23048	N	0.447962	0.999957	0.52396	D	2.535	0.73915	M	1.45	0.32482	T	-2.77	0.85921	D	0.398	0.43899	-0.9372	0.43057	T	0.094	0.35604	T	10	0.00404045	0.00079	T	.	.	.	0.144	0.38394	.	.	0.561097471998	0.55770	0.6000992533537909	0.59940	1.53222317347	0.87605	0.355705976486	0.18759	T	0.548407	0.84664	D	-0.417001	0.01788	T	-0.373875	0.36436	T	0.0450712634716505	0.04615	T	0.756024	0.48387	T	0.397754	0.60576	0.2696546	0.52848	0.397754	0.60577	0.2696546	0.52847	-9.266	0.69394	D	.	.	0.235	0.49078	B	.;.;.;.	.;.;.;.	5.478016	0.91348	32	0.99817111299830841	0.90061	0.81348	0.40770	D	AEFDGBCI	0.461300	0.51112	N	0.12144743292192	0.47464	2.971798	0.0456702509744604	0.41862	2.522201	0.999963247579836	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.58	3.67	0.41236	1.852000	0.38988	3.185000	0.36675	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.996000	0.76049	0.0:0.9142:0.0:0.0858	11.108	0.47436	702	0.57624	Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-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	0.021148	0.010101	0.025815	0.038012	0.050000	0.017241	0.018293	0.003788	0.1667	1779.06	33	chr15	90876318	.	C	T	1779.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=265;ExcessHet=0.4139;FS=1.485;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-0.239;SOR=0.529	GT:AD:DP:GQ:PL	0/1:34,34:68:99:961,0,954	4	0	2	0
chr15	99105891	99105891	C	T	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon1:c.C692T:p.A231V,SYNM:NM_145728:exon1:c.C692T:p.A231V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	.	.	0.00379393	0.0444	0	.	0.3571	.	0	0.25	0.0161	0.0005175	80	154602	rs531355545	0.0003	0.0003	0.0003	0.0003	0.0115	0.0003	0.0003	0.0106	0.0102	0	0	0	0.0115	0	0	5.567e-06	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	0.0137	0.0004	0.0003	0.0111	0.0101	0	0	0	0	0.0137	0	0	1.477e-05	0	0.0002	0.126	0.27194	T	0.135	0.34124	T	0.836	0.46303	P	0.455	0.46267	P	.	.	.	.	1	0.19363	N	.	.	.	-2.41	0.88689	D	-1.27	0.36586	N	0.337	0.40665	-0.3262	0.74246	T	0.590	0.85316	D	9	0.0013459623	0.00015	T	.	.	.	0.392	0.70764	.	.	.	.	0.24266122982553778	0.24180	0.560577814504	0.52574	0.786938786507	0.79977	T	0.424972	0.77523	T	-0.38515	0.02890	T	-0.182197	0.56319	T	0.0740906982124328	0.09214	T	0.813419	0.46649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33823	B	.;.;.	.;.;.	3.983064	0.58568	24.0	0.99636948325186692	0.76387	0.05780	0.11713	N	ALL	.	.	.	0.0239212475639864	0.42945	2.597198	-0.0201062591392396	0.38807	2.291743	0.999999999987787	0.74766	0.623204	0.39778	0	0.552344	0.17405	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	4.29	2.15	0.26590	0.917000	0.28286	3.153000	0.36534	0.518000	0.23583	0.208000	0.24400	0.997000	0.33255	0.909000	0.44452	0.1719:0.5751:0.149:0.104	3.757	0.08114	982	0.03397	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	353.06	40	chr15	99105891	.	C	T	353.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.75;DP=156;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=1.18;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,8:16:99:262,0,168	4	0	2	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011735	0.010638	0.004098	0.005952	0.000000	0.008621	0.018750	0.030534	0.08333	817.83	96	chr16	377699	.	C	G	817.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.023;DP=386;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.664;SOR=0.693	GT:AD:DP:GQ:PL	0/1:35,35:70:99:828,0,859	5	0	1	0
chr16	2472237	2472237	C	G	exonic	NTN3	.	nonsynonymous SNV	NTN3:NM_006181:exon1:c.C536G:p.P179R	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.316942225475	.	0.000199681	8.788e-06	0	0	0	0	0	0	6.269e-05	1.29e-05	2	154602	rs545535997	6.858e-07	6.84e-07	1.365e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.036	0.43393	D	0.189	0.28575	T	0.009	0.15093	B	0.015	0.17295	B	0.004864	0.33312	N	0.226308	0.653279	0.30514	N	1.52	0.38360	L	-0.87	0.74583	T	-1.11	0.28703	N	0.374	0.41557	-0.7041	0.60241	T	0.220	0.58279	T	10	0.12867928	0.24479	T	0.316942	0.91358	D	0.199	0.48268	0.468	0.54052	0.593515057505	0.59029	0.6439966703842033	0.64334	0.960014947929	0.72969	0.807551503181	0.83116	D	0.184599	0.53731	T	-0.166205	0.25810	T	-0.375889	0.36202	T	0.122750362945963	0.14697	T	0.662834	0.27173	T	0.07978534	0.18245	0.13097674	0.31461	0.07978534	0.18245	0.13097674	0.31460	-4.471	0.30507	T	.	.	0.110	0.21315	B	.	.	3.703755	0.52842	23.3	0.95040711359419594	0.26046	0.75816	0.37141	D	AEFDBHCI	0.281136	0.39479	N	-0.365088541721292	0.26721	1.460531	-0.287767931909141	0.28500	1.589592	0.999995492986874	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.95	2.97	0.33479	1.738000	0.37831	3.507000	0.38815	0.533000	0.24879	0.733000	0.28953	0.998000	0.33993	0.528000	0.29660	0.1742:0.726:0.0:0.0998	6.833	0.23102	705	0.57330	Laminin, N-terminal|Laminin, N-terminal|Laminin, 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	0.000000	0.003788	0.08333	2008.83	33	chr16	2472237	.	C	G	2008.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.491;DP=346;ExcessHet=0;FS=1.955;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.978;SOR=0.76	GT:AD:DP:GQ:PL	0/1:81,81:162:99:2019,0,2060	5	0	1	0
chr16	3067563	3067563	A	C	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon3:c.A64C:p.I22L,IL32:NM_001308078:exon3:c.A202C:p.I68L,IL32:NM_001369587:exon3:c.A202C:p.I68L,IL32:NM_001369588:exon3:c.A202C:p.I68L,IL32:NM_001369593:exon3:c.A34C:p.I12L,IL32:NM_001369596:exon3:c.A64C:p.I22L,IL32:NM_001012632:exon4:c.A64C:p.I22L,IL32:NM_001012633:exon4:c.A64C:p.I22L,IL32:NM_001012718:exon4:c.A64C:p.I22L,IL32:NM_001369590:exon4:c.A64C:p.I22L,IL32:NM_001376923:exon4:c.A64C:p.I22L,IL32:NM_004221:exon4:c.A64C:p.I22L,IL32:NM_001012631:exon5:c.A64C:p.I22L,IL32:NM_001369589:exon5:c.A64C:p.I22L	.	423	1089	9	1	0	11	0.00502513	.	.	.	703636	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0067	0.00778754	0.0034	0.0200	0.0022	0	0	0.0003	0.0011	0.0094	0.0030659	474	154602	rs115923319	0.0012	0.0012	0.0010	0.0013	0.0201	0.0011	0.0011	0.0188	0.0183	0.0201	0.0016	3.827e-05	2.519e-05	5.617e-05	0.0089	0.0002	0.0022	0.0074	0.0064	0.0064	0.0067	0.0061	0.0207	0.0061	0.0060	0.0196	0.0191	0.0207	0	0.0024	0	0.0002	0	0.0068	0.0004	0.0062	0.0071	0.265	0.19854	T	0.245	0.37310	T	0.001	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.53	0.70833	T	-1.13	0.30762	N	0.097	0.15469	-1.0899	0.05549	T	0.059	0.24539	T	9	0.004904866	0.00105	T	.	.	.	0.102	0.29158	0.222	0.14518	0.390531646278	0.38663	0.010596329033309461	0.01020	0.105508220992	0.11931	0.523488879204	0.42117	T	0.010799	0.17609	T	-0.502614	0.00553	T	-0.479152	0.24537	T	0.0043021059021059	0.00046	T	0.321768	0.07383	T	0.1319177	0.30733	0.053210147	0.08918	0.1319177	0.30733	0.053210147	0.08918	-2.472	0.06719	T	.	.	0.201	0.48551	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.463912	0.00317	0.005	0.63556436416830986	0.07255	0.00704	0.02988	N	AEFDBHCI	0.043939	0.07006	N	-2.13589654018943	0.00107	0.004562166	-2.22062230557729	0.00101	0.00441848	0.999999905074155	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	2.03	-4.05	0.03730	-3.797000	0.00409	.	.	-4.398000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3531:0.1285:0.3057:0.2127	0.564	0.00639	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.010101	0.008152	0.011696	0.000000	0.000000	0.003049	0.003788	0.1667	1915.06	40	chr16	3067563	.	A	C	1915.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.572;DP=291;ExcessHet=0.4139;FS=0.659;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.261;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,33:79:99:0|1:3067563_A_C:1243,0,1824:3067563	4	0	2	0
chr16	3067569	3067569	A	G	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon3:c.A70G:p.R24G,IL32:NM_001308078:exon3:c.A208G:p.R70G,IL32:NM_001369587:exon3:c.A208G:p.R70G,IL32:NM_001369588:exon3:c.A208G:p.R70G,IL32:NM_001369593:exon3:c.A40G:p.R14G,IL32:NM_001369596:exon3:c.A70G:p.R24G,IL32:NM_001012632:exon4:c.A70G:p.R24G,IL32:NM_001012633:exon4:c.A70G:p.R24G,IL32:NM_001012718:exon4:c.A70G:p.R24G,IL32:NM_001369590:exon4:c.A70G:p.R24G,IL32:NM_001376923:exon4:c.A70G:p.R24G,IL32:NM_004221:exon4:c.A70G:p.R24G,IL32:NM_001012631:exon5:c.A70G:p.R24G,IL32:NM_001369589:exon5:c.A70G:p.R24G	.	425	1088	8	1	0	10	0.00457457	.	.	.	703637	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0064	0.00778754	0.0034	0.0200	0.0022	0	0	0.0003	0.0011	0.0092	0.0030401	470	154602	rs144473418	0.0012	0.0012	0.0010	0.0013	0.0201	0.0011	0.0011	0.0188	0.0183	0.0201	0.0016	3.826e-05	2.519e-05	5.618e-05	0.0090	0.0002	0.0022	0.0072	0.0064	0.0065	0.0067	0.0061	0.0207	0.0061	0.0060	0.0196	0.0191	0.0207	0	0.0025	0	0.0002	0	0.0068	0.0004	0.0062	0.0071	0.156	0.91255	T	0.087	0.55341	T	0.183	0.32836	B	0.026	0.32387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.77	0.73739	T	-2.37	0.60827	N	0.194	0.22614	-1.0153	0.25240	T	0.077	0.30706	T	9	0.004132837	0.00081	T	.	.	.	0.119	0.33137	.	.	0.378847511475	0.37492	0.010607139295363157	0.01021	0.175847818237	0.19797	0.390299320221	0.23711	T	0.050373	0.33924	T	-0.376526	0.03276	T	-0.298034	0.44933	T	0.00376691452627779	0.00040	T	0.545245	0.18642	T	0.1457299	0.33392	0.11142638	0.26879	0.1457299	0.33392	0.11142638	0.26878	-3.203	0.20745	T	.	.	0.142	0.50343	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.276816	0.00458	0.010	0.72752288557336842	0.10083	0.00562	0.02559	N	AEFDBHCI	0.036607	0.04905	N	-1.53367403772781	0.01632	0.07137679	-1.65117491242315	0.01370	0.06187062	0.999995198190136	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	2.03	-4.05	0.03730	-2.005000	0.01549	.	.	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4103:0.3972:0.1926:0.0	3.881	0.08582	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.010101	0.008152	0.011696	0.000000	0.000000	0.003049	0.003788	0.1667	1850.06	40	chr16	3067569	.	A	G	1850.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.789;DP=283;ExcessHet=0.4139;FS=1.435;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.605;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,32:78:99:0|1:3067563_A_C:1204,0,1834:3067563	4	0	2	0
chr16	3067576	3067576	A	G	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon3:c.A77G:p.Y26C,IL32:NM_001308078:exon3:c.A215G:p.Y72C,IL32:NM_001369587:exon3:c.A215G:p.Y72C,IL32:NM_001369588:exon3:c.A215G:p.Y72C,IL32:NM_001369593:exon3:c.A47G:p.Y16C,IL32:NM_001369596:exon3:c.A77G:p.Y26C,IL32:NM_001012632:exon4:c.A77G:p.Y26C,IL32:NM_001012633:exon4:c.A77G:p.Y26C,IL32:NM_001012718:exon4:c.A77G:p.Y26C,IL32:NM_001369590:exon4:c.A77G:p.Y26C,IL32:NM_001376923:exon4:c.A77G:p.Y26C,IL32:NM_004221:exon4:c.A77G:p.Y26C,IL32:NM_001012631:exon5:c.A77G:p.Y26C,IL32:NM_001369589:exon5:c.A77G:p.Y26C	.	424	1089	8	1	0	10	0.00457038	.	.	.	703638	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.189	.	0.0068	0.00778754	0.0034	0.0201	0.0022	0	0	0.0004	0.0011	0.0092	0.0030595	473	154602	rs147775375	0.0012	0.0012	0.0010	0.0013	0.0202	0.0011	0.0011	0.0189	0.0184	0.0202	0.0016	3.826e-05	2.519e-05	5.621e-05	0.0092	0.0002	0.0022	0.0071	0.0064	0.0065	0.0067	0.0061	0.0207	0.0061	0.0060	0.0196	0.0191	0.0207	0	0.0025	0	0.0002	0	0.0068	0.0004	0.0062	0.0070	0.088	0.54683	T	0.173	0.35710	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.76	0.73417	T	2.08	0.15178	N	0.085	0.13769	-1.0612	0.11459	T	0.074	0.30023	T	9	0.004234284	0.00085	T	.	.	.	0.189	0.46613	.	.	0.386395597597	0.38251	0.007375380469582911	0.00703	0.134618601746	0.15165	0.446694374084	0.31493	T	0.001407	0.02473	T	-0.408003	0.02050	T	-0.343249	0.39976	T	0.00493061331323631	0.00053	T	0.478252	0.14398	T	0.086131394	0.20007	0.053205363	0.08918	0.086131394	0.20006	0.053205363	0.08918	-3.587	0.22617	T	.	.	0.047	0.05890	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.894114	0.00128	0.002	0.20446156828209749	0.00735	0.00131	0.00809	N	AEFDBHCI	0.038229	0.05380	N	-2.21145322574567	0.00072	0.003088292	-2.28019881074111	0.00074	0.003230598	0.999998170551876	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	2.03	-4.05	0.03730	-3.380000	0.00545	.	.	-2.787000	0.00188	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1338:0.1319:0.3687:0.3656	1.730	0.02753	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.010101	0.008152	0.011696	0.000000	0.000000	0.003049	0.003788	0.1667	1723.06	40	chr16	3067576	.	A	G	1723.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.578;DP=279;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.275;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,30:75:99:0|1:3067563_A_C:1119,0,1798:3067563	4	0	2	0
chr16	3138428	3138428	C	T	exonic	ZNF213	.	nonsynonymous SNV	ZNF213:NM_001134655:exon3:c.C410T:p.S137L,ZNF213:NM_004220:exon3:c.C410T:p.S137L	.	414	1104	4	0	0	4	0.00180832	.	.	.	3350160	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0137351387812	0.0002	.	3.361e-05	0.0002	8.655e-05	0	0	0	0	6.121e-05	3.88e-05	6	154602	rs369876326	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0002	1.238e-05	1.052e-05	4.366e-05	2.772e-05	2.989e-05	0.0001	0	0	0	0.0002	1.259e-05	4.971e-05	2.32e-05	7.883e-05	7.88e-05	0.0001	5.379e-05	0.0001	4.496e-05	3.511e-05	4.737e-05	3.052e-05	0.0001	0	0.0001	0	0	0	0	7.351e-05	0	0	0.332	0.13045	T	0.646	0.30729	T	0.026	0.19406	B	0.005	0.11217	B	0.909730	0.08561	N	0.943428	0.979482	0.25178	N	0	0.06538	N	3.47	0.08721	T	-1.2	0.30555	N	0.296	0.33469	-0.8987	0.48125	T	0.009	0.03011	T	10	0.063832045	0.08374	T	0.013735	0.33353	T	0.035	0.08770	.	.	0.311691414656	0.30774	0.26786186484649577	0.26699	0.151551425514	0.17104	0.451345205307	0.32128	T	0.044855	0.26942	T	-0.482567	0.00715	T	-0.651515	0.08848	T	0.024008646607399	0.01147	T	0.214779	0.34027	T	0.053887814	0.10264	0.03413746	0.02429	0.053887814	0.10263	0.03413746	0.02428	-3.57	0.17424	T	.	.	0.155	0.34205	B	.;.;.;.;.;.	.;.;.;.;.;.	2.186009	0.27867	17.61	0.99078848100084993	0.51906	0.22669	0.21824	N	AEFDBI	0.347623	0.44203	N	-0.963936129759143	0.09383	0.4438104	-0.835856474178337	0.13628	0.7079948	0.023629292656724	0.13521	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.528226	0.09195	0	.	.	5.43	0.96	0.18753	0.012000	0.13184	.	.	-0.193000	0.09282	0.007000	0.17678	0.986000	0.30841	0.813000	0.38311	0.3266:0.4958:0.0:0.1776	3.992	0.09030	749	0.51929	SCAN domain;SCAN domain;SCAN domain;SCAN domain;SCAN 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	.	.	.	.	.	.	.	.	0.1667	1215.06	33	chr16	3138428	.	C	T	1215.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.102;DP=227;ExcessHet=0.4139;FS=4.032;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=1.3;SOR=1.035	GT:AD:DP:GQ:PL	0/1:13,18:31:99:463,0,318	4	0	2	0
chr16	3204556	3204556	G	A	exonic	OR1F1	.	nonsynonymous SNV	OR1F1:NM_012360:exon3:c.G310A:p.V104I,OR1F1:NM_001370639:exon4:c.G340A:p.V114I,OR1F1:NM_001370640:exon4:c.G340A:p.V114I,OR1F1:NM_001370641:exon5:c.G310A:p.V104I	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.000786896368447	0.0002	0.000199681	0.0002	0	8.637e-05	0	0	0.0002	0.0077	0.0002	0.0001617	25	154602	rs141236935	0.0002	0.0002	0.0001	0.0002	0.0042	0.0002	0.0002	0.0029	0.0024	5.974e-05	0.0002	3.826e-05	5.038e-05	1.872e-05	0.0042	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	9.9e-05	4.813e-05	0	0.0003	0	0.0002	9.448e-05	0	0.0002	0.0005	0.0004	0.047	0.40319	D	0.053	0.47336	T	0.003	0.11197	B	0.005	0.11217	B	0.193960	0.03270	N	1.684360	1	0.08975	N	0.495	0.13372	N	8.11	0.00296	T	0.73	0.02068	N	0.113	0.10056	-0.9421	0.42282	T	0.000	0.00152	T	10	0.022133172	0.00545	T	7.87E-4	0.00608	T	0.041	0.10877	.	.	0.0482279557977	0.04254	0.03423888167301984	0.03371	0.00263157055894	0.00224	0.241656780243	0.02942	T	0.00275	0.02146	T	-0.603942	0.00138	T	-0.815154	0.01553	T	0.0405970346303164	0.03798	T	0.409559	0.10569	T	0.035788782	0.04279	0.05587842	0.09882	0.035788782	0.04279	0.05587842	0.09882	-3.645	0.18510	T	.	.	0.075	0.05535	B	.	.	-0.822227	0.01064	0.046	0.76801099286278407	0.11615	0.03937	0.09332	N	AEFDGBI	0.073310	0.14658	N	-1.71158535860498	0.00801	0.03463274	-1.83195090732317	0.00662	0.02945639	0.990967315396431	0.32327	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.27	-10.5	0.00234	-1.099000	0.03453	.	.	-2.819000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4636:0.1181:0.4183	13.353	0.60053	725	0.54935	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	0.006546	0.000000	0.012228	0.008772	0.000000	0.008621	0.003049	0.000000	0.08333	3119.83	33	chr16	3204556	.	G	A	3119.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.23;DP=615;ExcessHet=0;FS=1.685;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.361;SOR=0.821	GT:AD:DP:GQ:PL	0/1:94,116:210:99:3130,0,2280	5	0	1	0
chr16	4740572	4740572	G	T	exonic	C16orf71	.	nonsynonymous SNV	C16orf71:NM_139170:exon4:c.G696T:p.E232D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00080407678847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.411	0.14500	T	0.001	0.07471	B	0.001	0.04355	B	0.612237	0.05707	N	1.259300	1	0.08975	N	1.845	0.48678	L	3.2	0.07236	T	-1.28	0.32185	N	0.1	0.11626	-0.9269	0.44588	T	0.020	0.08500	T	10	0.048994213	0.04427	T	8.04E-4	0.00629	T	0.027	0.05988	0.088	0.00943	0.0138822411134	0.00435	0.01538435246378817	0.01494	0.0201121265363	0.01973	.	.	.	0.002884	0.22183	T	-0.359323	0.04168	T	-0.753919	0.03336	T	0.0904090404510498	0.11267	T	0.370463	0.08742	T	0.052774627	0.09890	0.049722698	0.07656	0.052774627	0.09890	0.049722698	0.07656	-4.335	0.28664	T	.	.	0.106	0.19518	B	.;.;.	.;.;.	-0.075317	0.03791	0.799	0.98627569449332531	0.43866	0.03371	0.08468	N	AEFDBI	0.039727	0.05810	N	-1.18458524323169	0.05233	0.2380661	-1.27186139532909	0.04815	0.2280311	0.963248635454122	0.28678	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.586402	0.36253	0	.	.	2.62	0.61	0.16757	-0.248000	0.08872	0.292000	0.16883	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1389:0.0:0.6176:0.2435	3.534	0.07345	637	0.64373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	130.83	39	chr16	4740572	.	G	T	130.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.589;DP=280;ExcessHet=0;FS=39.976;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=-0.03;SOR=5.549	GT:AD:DP:GQ:PL	0/1:66,15:81:99:141,0,1714	5	0	1	0
chr16	4893233	4893233	C	T	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon14:c.G1630A:p.E544K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0571487068551	0.0005	0.000399361	0.0022	0.0004	0.0016	0	0.0063	0.0042	0	0	0.000705	109	154602	rs139608681	0.0008	0.0009	0.0008	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	6.064e-05	0.0004	0.0009	2.596e-05	0.0013	0	0.0009	0.0011	1.202e-05	0.0007	0.0007	0.0007	0.0008	0.0012	0.0006	0.0006	0.0010	0.0009	0.0001	0	0.0008	0.0012	0	0.0007	0	0.0012	0	0	0.301	0.14449	T	0.106	0.37872	T	0.858	0.47274	P	0.137	0.33328	B	0.000046	0.53742	D	0.122950	0.992066	0.41545	D	2.24	0.63355	M	-0.39	0.69158	T	-0.59	0.17624	N	0.559	0.61341	-0.7734	0.56670	T	0.199	0.55428	T	10	0.015195042	0.00319	T	0.057149	0.66863	D	0.314	0.63588	.	.	0.81560881684	0.81387	0.2695075998621024	0.26863	0.0397582316544	0.04249	0.534148514271	0.43619	T	0.168022	0.51487	T	-0.273828	0.11334	T	-0.185126	0.56046	T	0.0467045642435551	0.04911	T	0.942106	0.78341	D	0.15465438	0.34994	0.14155057	0.33705	0.15465438	0.34993	0.14155057	0.33704	-5.087	0.37769	T	.	.	0.114	0.24566	B	.;.	.;.	2.778702	0.36494	20.3	0.99448781842989287	0.65172	0.97879	0.77817	D	AEFDBI	0.817622	0.73907	D	-0.009782270191304	0.41411	2.476524	-0.0113628122296573	0.39201	2.320701	0.999695830116385	0.41870	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.07	4.1	0.47196	5.830000	0.69016	2.819000	0.34952	0.597000	0.34315	1.000000	0.71638	0.995000	0.32472	0.003000	0.05239	0.0:0.8606:0.1394:0.0	15.457	0.75050	470	0.78111	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1088.06	26	chr16	4893233	.	C	T	1088.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.99;DP=204;ExcessHet=0.4139;FS=4.256;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.095;SOR=1.19	GT:AD:DP:GQ:PL	0/1:20,25:45:99:624,0,473	4	0	2	0
chr16	11166443	11166443	G	C	exonic	CLEC16A	.	nonsynonymous SNV	CLEC16A:NM_015226:exon22:c.G2697C:p.Q899H	.	425	1088	7	2	0	11	0.00502972	.	.	.	3944574	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.013814453961	.	.	0.0001	0	0	0	0	1.513e-05	0	0.0010	0.00011	17	154602	rs201236598	0.0001	0.0001	7.115e-05	0.0001	0.0011	8.956e-05	8.438e-05	0.0009	0.0008	0	0	0.0002	2.52e-05	0	0.0007	3.148e-05	0.0002	0.0011	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0006	2.107e-05	1.526e-05	0.0002	8.985e-05	0	0	6.533e-05	0.0003	0	0	0.0034	1.47e-05	0	0.0006	0.19	0.21144	T	0.128	0.34959	T	0.118	0.26577	B	0.054	0.25828	B	0.000110	0.50451	D	0.177321	1	0.26763	N	0	0.06538	N	0.93	0.44065	T	-0.43	0.14390	N	0.246	0.27792	-1.0559	0.12803	T	0.028	0.12190	T	10	0.014883846	0.00313	T	0.013814	0.33491	T	0.151	0.39764	0.161	0.06507	0.0482279557977	0.04254	0.32557027988222903	0.32470	0.190173576988	0.21337	0.411003142595	0.26595	T	0.056295	0.30247	T	-0.46678	0.00891	T	-0.488826	0.23515	T	0.0149342223437648	0.00318	T	0.813419	0.46649	T	0.07920763	0.18082	0.049899105	0.07721	0.07920763	0.18081	0.049899105	0.07720	-3.967	0.23308	T	.	.	0.081	0.08465	B	.	.	0.095292	0.04978	1.542	0.87206860694675259	0.17063	0.06885	0.12910	N	AEFBI	0.055793	0.10261	N	-1.10225195127983	0.06603	0.3044307	-1.28924246405771	0.04575	0.2161134	0.999997465288731	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.97	-9.94	0.00371	-0.753000	0.04897	-3.481000	0.02754	0.676000	0.76740	0.161000	0.23811	0.000000	0.08366	0.746000	0.35646	0.4849:0.3005:0.1148:0.0999	3.790	0.08235	833	0.38804	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2591.06	36	chr16	11166443	.	G	C	2591.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.469;DP=377;ExcessHet=0.4139;FS=5.465;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.09;SOR=1.041	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1474,0,1335	4	0	2	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	9020.01	118	chr16	11927475	.	G	*	9020.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.58;DP=719;ExcessHet=0.7136;FS=1.927;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=0.01;SOR=0.908	GT:AD:DP:GQ:PL	0/1:70,61:131:99:2207,0,2747	4	0	2	0
chr16	11927632	11927688	GCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.357_413del:p.D120_A138del	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0035	0.0007	0	0.0002	0.0002	0.0023	0.0051	3.84e-05	1	26028	.	0.0008	0.0013	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0.0039	0.0007	0.0002	0	0.0002	0.0026	0.0002	0.0011	0.0076	0.0033	0.0045	0.0030	0.0035	0.0145	0.0030	0.0029	0.0118	0.0108	0.0089	0	0.0015	0.0003	0	9.495e-05	0.0068	0.0005	0.0010	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	766.03	34	chr16	11927631	.	AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	A	766.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.18;DP=699;ExcessHet=0.4139;FS=13.299;MLEAC=2;MLEAF=0.167;MQ=53.8;MQRankSum=3.31;QD=1.99;ReadPosRankSum=3.99;SOR=1.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,21:184:99:0|1:11927631_AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC_A:449,0,6732:11927631	4	0	2	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	767.5	148	chr16	14582206	.	G	C	767.5	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.234;DP=891;ExcessHet=6.1542;FS=400.495;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=0.634;SOR=11.48	GT:AD:DP:GQ:PL	0/1:102,57:192:99:180,0,1613	1	0	5	0
chr16	14726010	14726010	T	C	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.T770C:p.I257T,NPIPA2:NM_001277324:exon8:c.T770C:p.I257T	.	680	838	3	1	0	5	0.00297442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00314180491617	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202008061	0.0002	0.0006	0.0002	0.0003	0.0015	0.0002	0.0002	0.0012	0.0011	0.0006	9.87e-05	0.0001	6.174e-05	0.0001	0.0004	7.162e-05	0.0003	0.0015	0.0001	0.0010	0.0001	0.0001	0.0016	5.736e-05	3.907e-05	0.0003	0.0001	0.0002	0	0	0	0	0	0	6.16e-05	0	0.0016	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.955	0.00212	N	1.03	0.40469	T	1.69	0.00584	N	0.033	0.00882	-1.0130	0.25975	T	0.022	0.09330	T	7	0.0345245	0.01664	T	0.003142	0.06845	T	0.053	0.14996	0.512	0.61000	0.0401082797425	0.02173	0.004018539337772436	0.00376	.	.	.	.	.	0.00255	0.01944	T	-0.399187	0.02344	T	-0.811181	0.01639	T	0.0275903080771918	0.01629	T	0.350665	0.07816	T	0.039952904	0.05612	0.124210164	0.29942	0.039952904	0.05611	0.124210164	0.29942	-2.875	0.08896	T	.	.	0.047	0.00067	B	.;.	.;.	-0.716000	0.01284	0.068	0.13017413792314503	0.00244	0.00023	0.00238	N	AEFI	0.015917	0.00327	N	-2.03967317633838	0.00174	0.007436822	-2.06477550391602	0.00222	0.009794188	1.34638258547086E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.595000	0.02196	-0.707000	0.07768	-1.119000	0.01475	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	80.98	19	chr16	14726010	.	T	C	80.98	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.224;DP=63;ExcessHet=0;FS=28.987;MLEAC=1;MLEAF=0.167;MQ=31.86;MQRankSum=3.22;QD=6.75;ReadPosRankSum=1.7;SOR=3.584	GT:AD:DP:GQ:PL	0/1:7,5:12:88:88,0,169	2	0	1	3
chr16	16273795	16273795	A	G	exonic	NOMO2;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	95	129	0	2	0	4	0.0152672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0348921807291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409485748	0.0008	0.0008	0.0008	0.0009	0.0079	0.0008	0.0008	0.0052	0.0043	6.898e-05	0.0003	0.0015	0	2.912e-05	0.0079	0.0006	0.0012	0.0036	0.0005	0.0005	0.0010	0	0.0021	0	0	.	.	0	0	0	0	0	0	0	0.0021	0	0	0.161	0.26300	T	0.013	0.63918	D	0.982	0.60036	D	0.715	0.54683	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.645	0.65844	-1.0958	0.04639	T	0.029	0.12234	T	10	0.10128394	0.18495	T	0.034892	0.55985	D	0.160	0.41473	0.263	0.20788	0.438593652726	0.43481	0.6076498977789883	0.60696	.	.	0.603942036629	0.53460	T	0.004737	0.09303	T	-0.356739	0.04318	T	-0.289822	0.45792	T	0.0926210135221481	0.11525	T	0.956104	0.83363	D	0.25034335	0.48035	0.16223365	0.37694	0.25034335	0.48035	0.16223365	0.37693	-5.107	0.37981	T	.	.	0.197	0.44384	B	.;.	.;.	3.155044	0.42722	21.6	0.98146118154868234	0.38647	0.77618	0.38184	D	AEFI	0.480565	0.52223	N	-0.161683254739873	0.34739	1.986566	-0.197022269048362	0.31645	1.792881	1.26429308109368E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.2	0.192	0.14415	1.099000	0.30625	2.008000	0.30152	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.5178:0.4822:0.0:0.0	11.619	0.50367	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	164.66	3	chr16	16273795	.	A	G	164.66	.	AC=4;AF=0.333;AN=12;DP=48;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=26.35;QD=27.44;SOR=3.912	GT:AD:DP:GQ:PL	1/1:0,2:2:6:62,6,0	4	2	0	0
chr16	18520877	18520877	T	C	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0279802166945	.	.	0.0008	0.0001	0.0002	0	0	0.0007	0.0033	0.0028	3.84e-05	1	26028	rs749051082	0.0005	0.0007	0.0004	0.0005	0.0051	0.0004	0.0004	0.0036	0.0031	5.975e-05	0.0003	0.0008	0	0	0.0051	0.0004	0.0007	0.0021	0.0003	0.0005	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0.0003	0	0	0.0068	0.0005	0.0009	0.0010	0.158	0.26629	T	0.013	0.92824	D	0.014	0.16867	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.837	0.86941	-0.7935	0.55526	T	0.013	0.05033	T	10	0.08753258	0.14987	T	0.02798	0.50720	D	0.187	0.46274	.	.	0.31077124679	0.30691	0.6336783096815357	0.63301	.	.	0.594283103943	0.52098	T	0.007539	0.06940	T	-0.347144	0.04909	T	-0.276973	0.47115	T	0.0347181973874079	0.02761	T	0.956104	0.83775	D	0.2227827	0.44885	0.1551629	0.36384	0.2227827	0.44885	0.1551629	0.36383	-5.099	0.41284	T	.	.	0.182	0.42906	B	.;.;.;.;.	.;.;.;.;.	2.522562	0.32602	19.09	0.97507598280086194	0.34331	0.75480	0.36958	D	AEFI	0.455969	0.50803	N	-0.365101523926914	0.26721	1.460499	-0.298532606994092	0.28146	1.567075	5.2496797031966E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.37	2.22	0.27116	1.235000	0.32274	1.258000	0.25213	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.651000	0.32720	0.0:0.0:0.1872:0.8128	9.019	0.35351	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001144	0.000000	0.000000	0.000000	0.000000	0.000000	0.003497	0.004000	0.1667	1949.06	46	chr16	18520877	.	T	C	1949.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.269;DP=643;ExcessHet=0.4139;FS=3.738;MLEAC=2;MLEAF=0.167;MQ=32.05;MQRankSum=-2.342;QD=4.26;ReadPosRankSum=0.761;SOR=0.589	GT:AD:DP:GQ:PL	0/1:188,60:248:99:908,0,4489	4	0	2	0
chr16	19699502	19699502	G	A	exonic	VPS35L	.	nonsynonymous SNV	VPS35L:NM_001300743:exon27:c.G2368A:p.A790T,VPS35L:NM_001365294:exon28:c.G2446A:p.A816T,VPS35L:NM_001365293:exon29:c.G2569A:p.A857T,VPS35L:NM_020314:exon30:c.G2647A:p.A883T,VPS35L:NM_001365295:exon31:c.G1759A:p.A587T	.	436	1018	64	4	0	72	0.0341556	0.2422	0.41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0022	0.00778754	0.0062	0.0003	0.0007	0	0.0005	0.0026	0.0100	0.0340	0.0055627	860	154602	rs34342607	0.0045	0.0045	0.0034	0.0056	0.0347	0.0044	0.0043	0.0336	0.0332	0.0004	0.0011	0.0004	0	0.0006	0.0120	0.0028	0.0043	0.0347	0.0026	0.0026	0.0024	0.0029	0.0326	0.0024	0.0023	0.0284	0.0268	0.0004	0	0.0012	0	0.0002	0.0002	0.0102	0.0029	0.0019	0.0326	0.514	0.09374	T	0.595	0.08217	T	0.001	0.07471	B	0.004	0.10090	B	0.001404	0.39109	N	0.275088	0.939711	0.37271	D	.	.	.	-0.25	0.67011	T	-0.46	0.17417	N	0.167	0.17691	-1.0187	0.24139	T	0.066	0.27330	T	9	0.0030856133	0.00051	T	.	.	.	0.115	0.32236	.	.	0.628129747422	0.62509	0.0991914943040385	0.09850	0.223371821447	0.24866	.	.	.	0.013786	0.11858	T	-0.463988	0.00928	T	-0.413501	0.31823	T	0.0127124624451056	0.00214	T	0.853715	0.54193	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07937	B	.;.;.;.;.;.	.;.;.;.;.;.	3.086578	0.41541	21.4	0.98321290364980285	0.40241	0.61960	0.31638	D	AEFBCI	0.112050	0.22163	N	-0.209700433706891	0.32736	1.849513	-0.0127522877868914	0.39137	2.316053	0.999987778612709	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.56	3.33	0.37245	4.850000	0.62587	8.324000	0.76967	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.4103:0.0:0.5897:0.0	3.356	0.06750	739	0.53257	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.010101	0.004076	0.005848	0.000000	0.008621	0.006098	0.030303	0.1667	2498.06	33	chr16	19699502	.	G	A	2498.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.64;DP=359;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.802;SOR=0.7	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1167,0,1578	4	0	2	0
chr16	29383572	29383574	TAT	-	exonic	NPIPB11	.	nonframeshift deletion	NPIPB11:NM_001310137:exon8:c.1358_1360del:p.N453del	.	588	894	40	0	0	40	0.0218818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.0069	0.0158	0	0.0022	0.0195	0.0060	0.0102	3.84e-05	1	26028	rs746135908	0.0063	0.0059	0.0057	0.0068	0.0208	0.0061	0.0061	0.0171	0.0157	0.0017	0.0065	0.0183	0	0.0051	0.0208	0.0064	0.0094	0.0024	0.0053	0.0058	0.0051	0.0055	0.0074	0.0048	0.0046	0.0066	0.0064	0.0011	0.0093	0.0045	0.0117	0	0.0012	0.0294	0.0074	0.0035	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2402.99	43	chr16	29383571	.	ATAT	A	2402.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.305;DP=446;ExcessHet=1.383;FS=8.052;MLEAC=3;MLEAF=0.25;MQ=35.66;MQRankSum=-0.782;QD=8.64;ReadPosRankSum=0.166;SOR=1.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,18:86:99:0|1:29383571_ATAT_A:552,0,2735:29383571	3	0	3	0
chr16	30353440	30353440	G	A	exonic	CD2BP2	.	nonsynonymous SNV	CD2BP2:NM_001243646:exon4:c.C736T:p.P246S,CD2BP2:NM_006110:exon5:c.C736T:p.P246S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0153507912001	.	.	8.253e-06	9.653e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs768245225	3.42e-06	3.42e-06	2.722e-06	4.125e-06	5.038e-05	1e-06	7.3e-07	8.35e-06	3.12e-06	2.987e-05	0	0	5.038e-05	0	0	8.993e-07	1.656e-05	0	2.629e-05	2.627e-05	3.854e-05	1.346e-05	9.658e-05	8.14e-06	5.14e-06	3.251e-05	1.916e-05	9.658e-05	0	0	0	0	0	0	0	0	0	0.327	0.13262	T	0.406	0.14725	T	0.817	0.45613	P	0.275	0.40079	B	0.000030	0.55875	D	0.156600	0.984131	0.40105	D	1.725	0.44537	L	1.62	0.28189	T	0.65	0.02332	N	0.362	0.40364	-1.0727	0.08830	T	0.065	0.26702	T	10	0.2269006	0.39556	T	0.015351	0.36031	T	0.155	0.40530	0.172	0.07774	0.458554320643	0.45480	0.4100015250043565	0.40916	0.311728463542	0.33480	0.42526704073	0.28561	T	0.004923	0.04343	T	-0.21859	0.18185	T	-0.370238	0.36861	T	0.270276963710785	0.23759	T	0.780822	0.41560	T	0.09540268	0.22451	0.11895055	0.28711	0.09540268	0.22451	0.11895055	0.28710	-4.052	0.24579	T	.	.	0.081	0.08272	B	.;.	.;.	2.856667	0.37735	20.6	0.99589986232529792	0.73572	0.93537	0.58487	D	AEFBCI	0.360356	0.45036	N	0.0313110371780036	0.43284	2.624335	0.0851975327894323	0.43803	2.674584	0.999999995845914	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	3.095000	0.49927	11.894000	0.99172	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.105000	0.18517	0.0:0.0:1.0:0.0	17.856	0.88677	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	.	.	.	.	.	.	.	.	0.1667	5108.06	34	chr16	30353440	.	G	A	5108.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.041;DP=508;ExcessHet=0.4139;FS=3.412;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.513;SOR=0.884	GT:AD:DP:GQ:PL	0/1:70,97:167:99:2499,0,1841	4	0	2	0
chr16	30353722	30353722	T	C	exonic	CD2BP2	.	nonsynonymous SNV	CD2BP2:NM_001243646:exon4:c.A454G:p.M152V,CD2BP2:NM_006110:exon5:c.A454G:p.M152V	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00346990941411	7.7e-05	.	2.599e-05	0.0001	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs372551765	3.971e-05	3.967e-05	4.632e-05	3.303e-05	0.0016	3.115e-05	2.849e-05	0.0008	0.0006	5.975e-05	0	0	2.519e-05	0	0.0016	3.868e-05	0	3.478e-05	4.6e-05	4.597e-05	7.71e-05	1.345e-05	0.0001	2.109e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	2.941e-05	0	0	0.728	0.03834	T	0.563	0.09022	T	0.0	0.02946	B	0.0	0.01387	B	0.000037	0.55875	D	0.164696	0.999946	0.19238	N	0.475	0.13142	N	1.67	0.27331	T	-0.19	0.09965	N	0.245	0.27792	-0.9914	0.32244	T	0.027	0.11751	T	10	0.037391394	0.02090	T	0.00347	0.07847	T	0.088	0.25558	.	.	0.187945064343	0.18414	0.28202786634924615	0.28115	0.0772688110211	0.08684	0.506601452827	0.39748	T	0.004565	0.03968	T	-0.378097	0.03202	T	-0.596871	0.13076	T	0.0239073666811275	0.01133	T	0.567243	0.20104	T	0.09162422	0.21475	0.076783426	0.17040	0.09162422	0.21475	0.076783426	0.17040	-1.449	0.01663	T	.	.	0.058	0.00754	B	.;.	.;.	3.654516	0.51883	23.2	0.57375179615807204	0.05755	0.27856	0.23393	N	AEFDBCI	0.094266	0.19063	N	-1.05796126815312	0.07432	0.3452343	-0.940339962961932	0.11148	0.5661516	0.999914351820558	0.45857	0.722319	0.85440	0	0.685571	0.66316	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.06	-0.589	0.11097	-0.056000	0.11744	0.229000	0.16167	-0.147000	0.12262	0.012000	0.18695	0.040000	0.21562	0.875000	0.41745	0.1909:0.0:0.4117:0.3974	7.101	0.24517	199	0.92292	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.1667	2333.06	34	chr16	30353722	.	T	C	2333.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.045;DP=297;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=1.78;SOR=0.695	GT:AD:DP:GQ:PL	0/1:26,46:72:99:1203,0,663	4	0	2	0
chr16	30583200	30583200	A	C	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon3:c.T578G:p.V193G	.	427	1059	35	1	0	37	0.0171694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0084	0.00299521	0.0083	0.0014	0.0075	0.0001	0.0014	0.0124	0.0056	0.0043	0.008441	1305	154602	rs35215913	0.0097	0.0097	0.0096	0.0097	0.0347	0.0095	0.0095	0.0307	0.0292	0.0025	0.0088	0.0360	2.519e-05	0.0015	0.0347	0.0100	0.0130	0.0057	0.0085	0.0085	0.0090	0.0080	0.0135	0.0081	0.0079	0.0120	0.0114	0.0017	0.0011	0.0135	0.0413	0.0006	0.0008	0.0340	0.0118	0.0123	0.0042	0.026	0.56456	D	0.004	0.74150	D	0.025	0.59353	B	0.027	0.65999	B	.	.	.	.	1	0.08975	N	1.4	0.35362	L	0.68	0.51952	T	-4.28	0.78553	D	0.145	0.14622	-0.8910	0.48846	T	0.177	0.52178	T	9	0.005142987	0.00112	T	.	.	.	0.108	0.30607	.	.	0.137902524267	0.13322	0.09788473330174625	0.09719	1.51491552847	0.87300	0.541760087013	0.44694	T	0.075017	0.35078	T	-0.605494	0.00135	T	-0.631495	0.10302	T	0.0371414656308382	0.03181	T	0.247575	0.03662	T	0.25864074	0.48914	0.17264035	0.39534	0.25864074	0.48914	0.17264035	0.39533	-7.663	0.59035	D	.	.	0.480	0.64731	A	.;.	.;.	1.452523	0.18737	13.90	0.98991087645046205	0.49943	0.05448	0.11325	N	AEFDBI	0.091409	0.18515	N	-0.682885310577017	0.16509	0.8417803	-0.880007790065353	0.12568	0.647249	0.024217103947528	0.13563	0.562547	0.31514	0	0.577304	0.33150	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	3.88	-1.14	0.09241	-1.019000	0.03733	-2.951000	0.03199	-0.060000	0.16637	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.52:0.1714:0.3086:0.0	4.346	0.10570	176	0.93188	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	ARMC5|ARMC5|BOLA2B|ARMC5|ARMC5|SETD1A	Adipose_Visceral_Omentum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Whole_Blood	.	.	rs35215913	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.036254	0.070707	0.040761	0.070175	0.050000	0.017241	0.015244	0.011364	0.1667	2040.06	33	chr16	30583200	.	A	C	2040.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.91;DP=272;ExcessHet=0.4139;FS=5.44;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=1.14;SOR=0.361	GT:AD:DP:GQ:PL	0/1:36,37:73:99:1113,0,1018	4	0	2	0
chr16	30583423	30583423	C	T	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon3:c.G355A:p.E119K	.	418	1068	35	1	0	37	0.0170272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0085	0.00299521	0.0082	0.0014	0.0073	0.0001	0.0014	0.0120	0.0037	0.0037	0.0084281	1303	154602	rs35974081	0.0095	0.0095	0.0096	0.0095	0.0347	0.0094	0.0093	0.0307	0.0291	0.0025	0.0093	0.0356	2.563e-05	0.0015	0.0347	0.0099	0.0126	0.0054	0.0085	0.0085	0.0090	0.0079	0.0135	0.0081	0.0079	0.0120	0.0114	0.0017	0.0011	0.0135	0.0412	0.0006	0.0008	0.0340	0.0117	0.0123	0.0042	0.436	0.09374	T	0.766	0.06265	T	0.324	0.33106	B	0.093	0.30104	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.42	0.05507	T	-0.08	0.12283	N	0.186	0.20262	-0.9882	0.33052	T	0.005	0.01797	T	9	0.0026192963	0.00040	T	.	.	.	0.038	0.09825	.	.	0.0482279557977	0.04254	0.1372591504599264	0.13649	0.511365231531	0.49213	0.515919387341	0.41052	T	0.004446	0.03847	T	-0.621603	0.00107	T	-0.654635	0.08632	T	0.00059005552276125	0.00005	T	0.50095	0.15685	T	0.022941232	0.00993	0.034488097	0.02525	0.022941232	0.00993	0.034488097	0.02524	-3.589	0.22813	T	.	.	0.097	0.15921	B	.;.	.;.	0.337488	0.07112	3.688	0.98818526866648293	0.46736	0.00819	0.03310	N	AEFBI	0.026200	0.01926	N	-1.00077854424395	0.08588	0.4032363	-1.03187283093451	0.09089	0.4502492	0.11431094478075	0.16729	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.64	1.66	0.23081	0.177000	0.16615	-0.684000	0.07871	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.138000	0.19872	0.0:0.8217:0.0:0.1783	4.796	0.12642	176	0.93188	.;.	ARMC5|ARMC5|BOLA2B|ARMC5|ARMC5|SETD1A	Adipose_Visceral_Omentum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Heart_Atrial_Appendage|Whole_Blood	.	.	rs35974081	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.035247	0.065657	0.042120	0.070175	0.050000	0.017241	0.012195	0.011364	0.1667	3096.06	33	chr16	30583423	.	C	T	3096.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.47;DP=390;ExcessHet=0.4139;FS=2.859;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.95;SOR=0.885	GT:AD:DP:GQ:PL	0/1:73,56:129:99:1451,0,1793	4	0	2	0
chr16	30724027	30724027	C	G	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon25:c.C4603G:p.P1535A	Floating-Harbor syndrome, Autosomal dominant	1	1480	41	0	0	41	0.0136621	.	.	.	169198	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.166	.	0.0063	0.00319489	0.0069	0.0013	0.0062	0.0001	0.0014	0.0100	0.0055	0.0041	0.0068951	1066	154602	rs117804715	0.0077	0.0077	0.0077	0.0077	0.0262	0.0076	0.0075	0.0228	0.0215	0.0019	0.0079	0.0228	2.519e-05	0.0014	0.0262	0.0080	0.0092	0.0057	0.0066	0.0066	0.0071	0.0061	0.0113	0.0063	0.0061	0.0099	0.0094	0.0014	0	0.0113	0.0242	0.0006	0.0007	0.0204	0.0093	0.0118	0.0035	0.004	0.65419	D	0.019	0.59159	D	0.045	0.21781	B	0.012	0.16012	B	0.001773	0.38052	N	0.121034	0.99237	0.27992	N	0.805	0.20218	L	-2.85	0.91363	D	-1.86	0.43524	N	0.122	0.17278	-0.5255	0.67711	T	0.388	0.74312	T	10	0.003346175	0.00058	T	.	.	.	0.166	0.42578	.	.	0.171220215726	0.16700	0.14443267510634614	0.14366	0.409613746433	0.41775	0.432179421186	0.29506	T	0.047445	0.27724	T	-0.401756	0.02255	T	-0.34191	0.40127	T	0.0111071003715947	0.00162	T	0.837516	0.51030	T	0.05706521	0.11311	0.077916384	0.17403	0.06670216	0.14376	0.07444466	0.16284	-5.198	0.38921	T	0.1859785009534004	0.24187	0.076	0.06114	B	.;.	.;.	2.787215	0.36630	20.3	0.97774561931433468	0.35894	0.52099	0.29051	D	AEFDBCI	0.081452	0.16482	N	-0.496018163434093	0.22210	1.184365	-0.364365858900063	0.26068	1.437536	0.999971470864979	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	2.48	0.29194	0.783000	0.26463	1.813000	0.28978	0.549000	0.26987	0.012000	0.18695	1.000000	0.68203	0.998000	0.85391	0.0:0.6961:0.1428:0.1611	7.061	0.24304	10	0.99061	.;.	.	.	.	.	.	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	0.027694	0.030303	0.029891	0.061404	0.050000	0.017241	0.018293	0.011364	0.1667	5652.06	39	chr16	30724027	.	C	G	5652.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.01;DP=567;ExcessHet=0.4139;FS=0.756;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=2.37;SOR=0.754	GT:AD:DP:GQ:PL	0/1:87,119:206:99:3172,0,2390	4	0	2	0
chr16	31080387	31080387	C	T	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C4063T:p.R1355W	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0110771603612	7.7e-05	.	0.0003	0	0.0021	0	0	7.677e-05	0	0.0001	0.0002329	36	154602	rs200795473	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0013	0.0012	0	0.0016	0	0	1.901e-05	0.0010	0.0003	0.0003	0.0002	7.875e-05	7.873e-05	7.707e-05	8.052e-05	0.0002	4.492e-05	3.508e-05	2.846e-05	1.858e-05	7.213e-05	0	0.0001	0	0	0	0	7.349e-05	0.0005	0.0002	0.002	0.72154	D	0.008	0.67890	D	0.517	0.37451	P	0.063	0.27082	B	.	.	.	.	1	0.08975	N	2.095	0.58118	M	2.95	0.09635	T	-1.94	0.45042	N	0.259	0.29313	-0.9926	0.31933	T	0.017	0.06807	T	9	0.019007504	0.00419	T	0.011077	0.28332	T	0.046	0.12618	.	.	0.514587094315	0.51101	0.36539140185632996	0.36453	0.766464379829	0.64535	0.510289311409	0.40263	T	0.091859	0.38883	T	-0.509863	0.00503	T	-0.51839	0.20458	T	0.092089266843435	0.11463	T	0.883212	0.60517	D	0.0581779	0.11674	0.06427366	0.12857	0.0581779	0.11673	0.06427366	0.12857	-7.089	0.54681	T	.	.	0.194	0.47005	B	.;.	.;.	2.938689	0.39066	20.9	0.99873842004282454	0.95076	0.45825	0.27624	N	AEFDBHCI	0.130391	0.24893	N	-0.171405448836957	0.34328	1.958102	-0.0909539969250169	0.35763	2.072948	0.999996706874999	0.74766	0.712529	0.81865	0	0.577304	0.33150	0	0.635938	0.45252	0	0.636168	0.56350	0	.	.	5.26	4.3	0.50540	-0.063000	0.11612	.	.	0.599000	0.40250	0.002000	0.15269	0.991000	0.31484	0.502000	0.29062	0.1833:0.6582:0.0:0.1585	4.795	0.12634	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	968.83	33	chr16	31080387	.	C	T	968.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.079;SOR=0.61	GT:AD:DP:GQ:PL	0/1:54,38:92:99:979,0,1343	5	0	1	0
chr16	55579140	55579140	C	T	exonic	LPCAT2	.	nonsynonymous SNV	LPCAT2:NM_017839:exon13:c.C1346T:p.T449M	.	431	1073	18	0	0	18	0.00831793	.	.	.	703740	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.468	.	0.0018	0.00419329	0.0046	0.0009	0.0006	0.0001	0.0021	0.0021	0.0066	0.0228	0.004062	628	154602	rs142090669	0.0030	0.0030	0.0024	0.0035	0.0218	0.0029	0.0028	0.0210	0.0207	0.0005	0.0005	7.661e-05	5.041e-05	0.0027	0.0042	0.0019	0.0027	0.0218	0.0020	0.0020	0.0017	0.0023	0.0207	0.0018	0.0017	0.0174	0.0162	0.0006	0.0154	0.0007	0.0003	0.0002	0.0027	0	0.0018	0.0009	0.0207	0.015	0.52492	D	0.057	0.46406	T	1.0	0.90584	D	0.961	0.70482	D	0.000010	0.62929	D	0.147653	0.999977	0.53665	D	3.305	0.90531	M	-0.87	0.74583	T	-4.2	0.75695	D	0.569	0.59223	0.184	0.85644	D	0.589	0.85259	D	10	0.0116019845	0.00253	T	.	.	.	0.468	0.76289	.	.	0.922837085168	0.92205	0.7793051951255054	0.77881	0.165698584947	0.18694	0.436629772186	0.30117	T	0.493218	0.81686	T	-0.310669	0.07690	T	-0.201446	0.54509	T	0.0560204852337205	0.06528	T	0.870213	0.57527	D	0.16128945	0.36128	0.18174815	0.41058	0.15628661	0.35276	0.20300868	0.44356	-12.067	0.85175	D	.	.	0.162	0.35684	B	.	.	4.489201	0.70109	25.5	0.99849907891515421	0.92925	0.88001	0.47743	D	AEFBI	0.163918	0.29025	N	0.469130523414809	0.65298	4.804742	0.321415147242058	0.56801	3.84396	0.999919419600057	0.45857	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.62	3.63	0.40741	2.835000	0.47876	3.300000	0.37375	0.596000	0.33519	0.985000	0.35982	0.998000	0.33993	0.978000	0.57271	0.0:0.7824:0.1419:0.0757	9.593	0.38724	694	0.58444	EF-hand domain|EF-Hand 1, calcium-binding site|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	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.018939	0.08333	639.83	34	chr16	55579140	.	C	T	639.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=234;ExcessHet=0;FS=2.211;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.017;SOR=1.044	GT:AD:DP:GQ:PL	0/1:34,27:61:99:650,0,761	5	0	1	0
chr16	57451045	57451045	C	G	exonic	COQ9	.	nonsynonymous SNV	COQ9:NM_020312:exon2:c.C79G:p.R27G	Coenzyme Q10 deficiency, primary, 5, Autosomal recessive	2	1463	55	2	0	59	0.0197655	.	.	.	211720	COQ9-related_disorder|not_provided|Encephalopathy-hypertrophic_cardiomyopathy-renal_tubular_disease_syndrome	.|MedGen:C3661900|MONDO:MONDO:0013840,MedGen:C3553374,OMIM:614654,Orphanet:319678	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0005	0.000998403	0.0024	0.0002	0.0026	0	0	0.0013	0.0057	0.0105	0.0020246	313	154602	rs140264612	0.0013	0.0013	0.0010	0.0017	0.0197	0.0013	0.0013	0.0167	0.0156	0.0005	0.0019	0.0039	7.557e-05	0	0.0197	0.0006	0.0018	0.0104	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	9.632e-05	0	0.0006	0.0035	0	0	0.0272	0.0008	0.0038	0.0087	0.014	0.59928	D	0.055	0.57104	T	0.418	0.35279	B	0.065	0.27321	B	0.810299	0.09256	N	0.918676	0.999131	0.21587	N	2.175	0.60977	M	.	.	.	-2.57	0.84742	D	0.537	0.58968	-1.0003	0.29831	T	0.082	0.32207	T	9	0.00896737	0.00203	T	.	.	.	0.132	0.35948	.	.	0.387689773709	0.38380	0.4378721019580951	0.43704	0.259252817373	0.28482	0.535011053085	0.43740	T	0.070879	0.39639	T	-0.344015	0.05115	T	-0.258968	0.48927	T	0.0228780761383594	0.01010	T	0.831017	0.49766	T	0.15947412	0.35821	0.13199598	0.31684	0.1836086	0.39636	0.15318273	0.36006	-3.83	0.21253	T	.	.	0.069	0.12132	B	.;.;.;.;.;.	.;.;.;.;.;.	1.464020	0.18867	13.97	0.98290489573241691	0.39945	0.11866	0.16912	N	AEFBI	0.179999	0.30729	N	-0.324439954419346	0.28222	1.554889	-0.376808982927053	0.25690	1.414323	0.747359427171746	0.23305	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	0.861	0.18186	-0.036000	0.12136	-0.108000	0.11862	0.599000	0.40250	0.038000	0.20882	0.000000	0.08366	0.735000	0.35267	0.2708:0.4678:0.0:0.2613	3.775	0.08177	683	0.59664	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.011581	0.000000	0.017663	0.005848	0.000000	0.017241	0.012195	0.011364	0.08333	486.83	33	chr16	57451045	.	C	G	486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.758;DP=214;ExcessHet=0;FS=11.467;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.434;SOR=2.514	GT:AD:DP:GQ:PL	0/1:15,20:35:99:497,0,367	5	0	1	0
chr16	69119090	69119090	C	T	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.G1339A:p.G447R,DERPC:NM_001002847:exon3:c.G1339A:p.G447R,DERPC:NM_001040144:exon3:c.G1339A:p.G447R,DERPC:NM_001366604:exon3:c.G1339A:p.G447R	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0684988637167	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434956115	8.535e-05	7.475e-05	0.0001	6.038e-05	0.0005	6.574e-05	5.89e-05	8.675e-05	4.668e-05	6.326e-05	0	0	0	0.0002	0.0005	7.887e-05	0.0003	6.377e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.414e-05	0	0	0	0.0002	0.23	0.18308	T	0.071	0.43531	T	0.999	0.77913	D	0.943	0.67921	D	0.000231	0.47286	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-1.28	0.32185	N	0.315	0.35514	-0.7941	0.55491	T	0.251	0.62061	T	8	0.23220494	0.40212	T	0.068499	0.70468	D	0.138	0.37187	0.159	0.06287	0.784296655456	0.78230	0.2353146721310866	0.23446	.	.	0.59156692028	0.51715	T	0.03143	0.22039	T	0.0104263	0.53082	T	-0.0258283	0.68646	D	0.699888348579407	0.40713	D	0.578742	0.20864	T	0.056838945	0.11236	0.08631294	0.19989	0.056838945	0.11236	0.08631294	0.19988	-7.076	0.54588	T	.	.	0.227	0.45966	B	.	.	2.857995	0.37752	20.6	0.96003720723687513	0.28422	0.22161	0.21652	N	AEFDBCI	0.147123	0.27073	N	0.239203869300633	0.53106	3.481168	0.156824694494327	0.47503	2.979695	0.998202059385147	0.36574	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	4.09	0.47038	2.007000	0.40503	7.634000	0.62871	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.853000	0.40368	0.184:0.816:0.0:0.0	11.118	0.47492	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	879.83	35	chr16	69119090	.	C	T	879.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.702;DP=227;ExcessHet=0;FS=3.017;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.55;ReadPosRankSum=0.86;SOR=1.352	GT:AD:DP:GQ:PL	0/1:12,33:45:99:890,0,256	5	0	1	0
chr16	84101767	84101767	A	G	exonic	MBTPS1	.	nonsynonymous SNV	MBTPS1:NM_003791:exon2:c.T17C:p.I6T	.	430	1077	15	0	0	15	0.00691563	.	.	.	1660957	MBTPS1-related_disorder|Spondyloepiphyseal_dysplasia,_kondo-fu_type|not_provided	.|MONDO:MONDO:0032721,MedGen:C5193071,OMIM:618392|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00319489	0.0101	0.0008	0.0030	0	0.0361	0.0129	0.0177	0.0038	0.0092431	1429	154602	rs34701895	0.0093	0.0093	0.0093	0.0094	0.0177	0.0092	0.0091	0.0149	0.0139	0.0016	0.0049	0.0037	5.038e-05	0.0325	0.0177	0.0095	0.0089	0.0040	0.0095	0.0095	0.0090	0.0101	0.0127	0.0091	0.0089	0.0120	0.0117	0.0015	0.0241	0.0065	0.0026	0	0.0335	0.0102	0.0127	0.0071	0.0037	0.391	0.10802	T	0.312	0.19599	T	0.02	0.18235	B	0.018	0.18489	B	0.005113	0.33089	N	0.355612	0.830314	0.28768	N	1.1	0.28011	L	1.41	0.33412	T	-0.15	0.82341	N	0.138	0.13626	-1.0449	0.15854	T	0.024	0.10103	T	10	0.0053536	0.00117	T	.	.	.	0.014	0.01968	.	.	.	.	0.4517386798585098	0.45091	0.049455207647	0.05415	0.604184746742	0.53495	T	0.213298	0.57457	T	-0.530541	0.00381	T	-0.520582	0.20234	T	0.00792578813983689	0.00093	T	0.69753	0.30746	T	0.023626905	0.01118	0.0472831	0.06776	0.023548719	0.01103	0.0472831	0.06776	-3.553	0.17182	T	.	.	0.117	0.23709	B	.;.	.;.	1.985030	0.25217	16.68	0.85071971645797162	0.15668	0.89986	0.50819	D	AEFBI	0.280595	0.39438	N	-0.468875365613916	0.23106	1.23843	-0.253978555040062	0.29633	1.661854	0.998649430173461	0.37371	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	2.62	0.30337	3.754000	0.54903	3.086000	0.36259	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.811:0.0:0.189:0.0	10.258	0.42586	702	0.57624	.;.	.	.	.	.	rs34701895	Likely benign	0	0	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	0.005051	0.013587	0.011696	0.000000	0.017241	0.015244	0.003788	0.1667	1391.06	33	chr16	84101767	.	A	G	1391.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.093;DP=249;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.229;SOR=0.624	GT:AD:DP:GQ:PL	0/1:26,26:52:99:618,0,637	4	0	2	0
chr16	84179605	84179605	G	A	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.C950T:p.A317V,TAF1C:NM_001243157:exon12:c.C950T:p.A317V,TAF1C:NM_001243160:exon12:c.C515T:p.A172V,TAF1C:NM_001243159:exon14:c.C719T:p.A240V,TAF1C:NM_005679:exon14:c.C1946T:p.A649V,TAF1C:NM_001243156:exon15:c.C1868T:p.A623V,TAF1C:NM_139353:exon15:c.C1664T:p.A555V	.	395	1122	4	1	0	6	0.00266667	.	.	.	2817853	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.0147665743045	0.0008	0.000599042	0.0008	0.0003	0.0002	0	0	0.0013	0.0024	0.0006	0.0008215	127	154602	rs139380627	0.0012	0.0012	0.0012	0.0012	0.0018	0.0012	0.0012	0.0014	0.0013	0.0001	0.0006	0.0015	0	5.71e-05	0.0018	0.0014	0.0011	0.0008	0.0012	0.0012	0.0012	0.0013	0.0038	0.0011	0.0010	0.0030	0.0027	0.0003	0	0.0038	0.0026	0	0	0.0068	0.0015	0.0019	0.0004	0.077	0.40068	T	0.053	0.54541	T	0.037	0.44108	B	0.012	0.41250	B	0.536896	0.05290	N	1.271510	1	0.08975	N	1.495	0.37439	L	3.6	0.05071	T	-1.19	0.30346	N	0.11	0.23380	-0.9637	0.38468	T	0.012	0.04605	T	10	0.00704208	0.00160	T	0.014767	0.35101	T	0.018	0.03083	.	.	0.156986980423	0.15292	0.12379529269135672	0.12305	.	.	0.255018651485	0.04315	T	0.007564	0.06959	T	-0.569409	0.00223	T	-0.615321	0.11556	T	0.0109394200561875	0.00157	T	0.665433	0.27458	T	0.03879356	0.05237	0.05869657	0.10888	0.03879356	0.05237	0.05869657	0.10888	-4.429	0.30665	T	.	.	0.086	0.16494	B	.;.;.;.;.	.;.;.;.;.	0.744823	0.11144	7.785	0.99575624112286032	0.72682	0.18124	0.20129	N	AEFDBCI	0.126936	0.24409	N	-0.863720242708867	0.11713	0.5668247	-0.907794979046585	0.11909	0.6096361	0.999989958459192	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.95	2.95	0.33285	2.457000	0.44662	1.652000	0.27851	-0.194000	0.09177	0.369000	0.25916	0.004000	0.18990	0.008000	0.08271	0.099:0.0:0.696:0.205	5.95	0.18476	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	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	1678.06	46	chr16	84179605	.	G	A	1678.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.437;DP=239;ExcessHet=0.4139;FS=1.833;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=-1.05;SOR=0.836	GT:AD:DP:GQ:PL	0/1:17,32:49:99:958,0,422	4	0	2	0
chr16	85918797	85918797	T	G	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363908:exon5:c.T370G:p.F124V,IRF8:NM_001363907:exon7:c.T1012G:p.F338V,IRF8:NM_002163:exon7:c.T982G:p.F328V	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	0	1501	19	2	0	23	0.00760331	.	.	.	486158	not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Immunodeficiency_32B|IRF8-related_disorder	MedGen:C3661900|MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	0.20769611581	0.0002	0.000998403	0.0012	0.0002	0.0004	0.0001	0	0.0003	0.0023	0.0070	0.001009	156	154602	rs202046728	0.0006	0.0006	0.0004	0.0008	0.0055	0.0006	0.0005	0.0051	0.0049	0.0001	0.0005	0	2.519e-05	0	0.0047	0.0002	0.0009	0.0055	0.0005	0.0005	0.0004	0.0005	0.0050	0.0004	0.0003	0.0034	0.0029	0.0002	0	0.0010	0	0	0	0.0034	0.0003	0.0005	0.0050	0.02	0.55530	D	0.037	0.67890	D	0.001	0.07471	B	0.009	0.14300	B	0.009152	0.30494	N	0.401655	0.619357	0.30793	N	1.605	0.40863	L	-3.19	0.93170	D	0.35	0.05035	N	0.425	0.46649	-0.2654	0.75939	T	0.632	0.87102	D	10	0.0115574	0.00261	T	0.207696	0.87107	D	0.351	0.67234	.	.	0.658593015935	0.65573	0.3841033044616251	0.38325	0.749371048524	0.63688	0.463641107082	0.33810	T	0.517141	0.83044	D	-0.232603	0.16306	T	-0.105252	0.62988	T	0.0275112459255449	0.01618	T	0.713829	0.33319	T	0.08052185	0.18456	0.0643025	0.12868	0.06332419	0.13322	0.05643354	0.10080	-3.422	0.15354	T	0.16528918988687305	0.20481	0.161	0.46700	B	.;.;.;.	.;.;.;.	2.953947	0.39315	20.9	0.97486410063945161	0.34219	0.81664	0.41023	D	AEFGBHCI	0.386683	0.46695	N	-0.439020089020507	0.24114	1.299763	-0.355132035847008	0.26351	1.454916	0.997251064563144	0.35425	0.645754	0.44609	0	0.696144	0.67643	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.1	0.112	0.13929	0.296000	0.18839	0.261000	0.16544	0.665000	0.62972	0.974000	0.34632	0.996000	0.32793	0.974000	0.55675	0.253:0.2889:0.0:0.4582	3.736	0.08035	969	0.06854	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.017241	0.006098	0.003788	0.1667	2472.06	34	chr16	85918797	.	T	G	2472.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.099;DP=360;ExcessHet=0.4139;FS=3.069;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.775;SOR=0.909	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1344,0,1162	4	0	2	0
chr16	88736210	88736210	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon12:c.G1495A:p.V499I	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	426	1085	9	2	0	13	0.00595511	.	.	.	1196174	not_provided|Inborn_genetic_diseases|PIEZO1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.177545364407	.	0.000399361	0.0005	0	0.0029	0	0	0.0007	0	0.0004	0.000207	32	154602	rs530486445	0.0009	0.0009	0.0010	0.0009	0.0079	0.0009	0.0009	0.0060	0.0054	0.0004	0.0007	0.0014	5.597e-05	0.0001	0.0079	0.0010	0.0008	0.0005	0.0007	0.0007	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0012	0.0014	0	0	0.0068	0.0010	0	0.0006	0.799	0.03125	T	0.351	0.17425	T	0.014	0.16867	B	0.005	0.11217	B	0.000024	0.55875	D	0.065276	0.699722	0.30114	N	0.63	0.15941	N	-1.82	0.84047	D	0.15	0.05310	N	0.109	0.09490	-0.7264	0.59145	T	0.340	0.70608	T	10	0.010295153	0.00230	T	0.177545	0.85296	D	0.285	0.60338	.	.	0.0675242888579	0.06100	0.08238491071398324	0.08173	.	.	0.566157817841	0.48135	T	0.00317	0.02576	T	-0.364518	0.03881	T	-0.356979	0.38403	T	0.0145007613998494	0.00295	T	0.742326	0.36163	T	0.013507873	0.00061	0.026395345	0.00727	0.013507873	0.00061	0.026395345	0.00727	-5.198	0.38921	T	.	.	0.081	0.08272	B	.	.	1.982115	0.25182	16.67	0.99570214088054965	0.72318	0.37958	0.25879	N	AEFBHCI	0.170467	0.29737	N	-0.334845440161081	0.27833	1.530253	-0.168228459271217	0.32714	1.863874	0.99998444847203	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	3.52	0.39415	0.534000	0.22807	0.199000	0.15831	-0.256000	0.07045	0.908000	0.31627	0.008000	0.19753	0.963000	0.52385	0.0:0.626:0.0:0.374	3.711	0.07949	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004310	0.000000	0.000000	0.016807	0.000000	0.000000	0.000000	0.000000	0.1667	1254.06	43	chr16	88736210	.	C	T	1254.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.38;DP=258;ExcessHet=0.4139;FS=0.806;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=1.6;SOR=0.588	GT:AD:DP:GQ:PL	0/1:19,27:46:99:785,0,444	4	0	2	0
chr16	88863762	88863762	C	T	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001294328:exon8:c.G743A:p.R248H,PABPN1L:NM_001385709:exon8:c.G724A:p.V242I	.	401	1118	3	0	0	3	0.00133988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.007418603037	.	.	7.685e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs754129649	6.938e-05	6.704e-05	5.136e-05	8.788e-05	0.0007	5.805e-05	5.395e-05	0.0004	0.0004	6.33e-05	2.802e-05	0	0	0	0.0007	3.615e-05	6.908e-05	0.0006	7.226e-05	7.223e-05	7.706e-05	6.724e-05	0.0006	3.97e-05	3.127e-05	0.0002	8.981e-05	4.824e-05	0	6.54e-05	0	0	9.411e-05	0	5.88e-05	0	0.0006	0.0	0.91255	D	0.059	0.45961	T	0.998	0.73220	D	0.801	0.58220	P	.	.	.	.	1	0.19781	N	.	.	.	.	.	.	-1.99	0.45949	N	0.102	0.08506	-1.0244	0.22279	T	0.061	0.25455	T	7	0.0610677	0.07599	T	0.007419	0.19685	T	0.121	0.33580	0.454	0.51775	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.270658	0.11684	T	-0.270181	0.47801	T	0.0322419626470799	0.02345	T	0.424958	0.11391	T	.	.	.	.	.	.	.	.	-4.135	0.25804	T	.	.	0.088	0.11510	B	.	.	-0.483253	0.01921	0.161	0.79017397360053321	0.12553	0.00804	0.03270	N	AEFBCI	0.016906	0.00409	N	-1.57143446848086	0.01413	0.0616215	-1.75861341519035	0.00901	0.04029479	0.999917649973834	0.45857	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.21	-8.42	0.00836	-2.910000	0.00766	-11.403000	0.00608	-0.319000	0.05888	0.006000	0.17386	0.000000	0.08366	0.051000	0.15275	0.0864:0.094:0.2737:0.546	5.225	0.14712	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1364.06	35	chr16	88863762	.	C	T	1364.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.61;DP=269;ExcessHet=0.4139;FS=4.227;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.75;SOR=0.87	GT:AD:DP:GQ:PL	0/1:36,33:69:99:719,0,851	4	0	2	0
chr16	88866361	88866361	C	G	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon3:c.G246C:p.L82F,PABPN1L:NM_001294328:exon3:c.G246C:p.L82F,PABPN1L:NM_001385709:exon3:c.G246C:p.L82F	.	377	1130	15	0	0	15	0.00659341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0067	0.00678914	0.0079	0.0023	0.0101	0	0	0.0148	0.0109	0.0023	0.0031436	486	154602	rs146771138	0.0098	0.0094	0.0097	0.0098	0.0223	0.0096	0.0096	0.0191	0.0179	0.0024	0.0133	0.0142	2.798e-05	0.0072	0.0223	0.0106	0.0105	0.0025	0.0096	0.0096	0.0098	0.0095	0.0146	0.0092	0.0090	0.0136	0.0133	0.0024	0	0.0146	0.0138	0.0002	0.0072	0.0306	0.0143	0.0114	0.0019	0.405	0.10311	T	0.668	0.06386	T	0.01	0.50336	B	0.008	0.42432	B	0.253097	0.03659	N	1.539410	1	0.08975	N	0	0.06538	N	2.7	0.12162	T	-1.15	0.30555	N	0.051	0.03613	-1.0313	0.20034	T	0.006	0.02206	T	10	0.004073918	0.00080	T	.	.	.	0.019	0.03383	0.142	0.04556	0.0401082797425	0.02173	0.07926362312666765	0.07861	0.00999591242172	0.00916	0.277724415064	0.07177	T	0.008757	0.08018	T	-0.711087	0.00031	T	-0.777947	0.02516	T	0.00569000085141165	0.00062	T	0.152385	0.03851	T	0.04209838	0.06321	0.04503431	0.05971	0.04209838	0.06321	0.04503431	0.05971	-5.191	0.41568	T	.	.	0.099	0.23952	B	.;.;.	.;.;.	-0.354339	0.02388	0.265	0.51160133314860212	0.04513	0.01813	0.05646	N	AEFDGBI	0.111747	0.22114	N	-1.77571958482515	0.00607	0.02617288	-1.92697036149558	0.00433	0.01914093	0.9999656905403	0.48965	0.580535	0.33130	0	0.759151	0.99529	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.68	-9.36	0.00533	-2.326000	0.01195	-4.577000	0.02086	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1883:0.5072:0.1893:0.1152	5.089	0.14031	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	0.013158	0.041237	0.011673	0.000000	0.000000	0.025000	0.014815	0.004950	0.25	2326.03	54	chr16	88866361	.	C	G	2326.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.506;DP=285;ExcessHet=1.383;FS=2.708;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.02;SOR=0.51	GT:AD:DP:GQ:PL	0/1:22,36:58:99:946,0,572	3	0	3	0
chr17	1496787	1496787	G	C	exonic	INPP5K	.	nonsynonymous SNV	INPP5K:NM_016532:exon9:c.C980G:p.S327C,INPP5K:NM_130766:exon10:c.C752G:p.S251C,INPP5K:NM_001135642:exon11:c.C752G:p.S251C	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.412300689621	.	0.000199681	9.364e-05	0	0.0002	0	0	0.0001	0	0	7.76e-05	12	154602	rs148663737	2.6e-05	2.599e-05	2.45e-05	2.75e-05	0.0005	1.932e-05	1.692e-05	0.0001	7.541e-05	0	6.71e-05	0	0	0	0.0005	2.698e-05	1.656e-05	1.159e-05	1.969e-05	1.968e-05	1.285e-05	2.684e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.025	0.47320	D	0.027	0.55341	D	0.997	0.70673	D	0.848	0.60574	P	0.024738	0.26212	N	0.449031	1	0.08975	N	2.665	0.77964	M	-5.08	0.98667	D	-3.2	0.64710	D	0.467	0.50958	0.636	0.92365	D	0.918	0.97271	D	10	0.3221498	0.49569	T	0.412301	0.93624	D	0.358	0.67872	.	.	0.816319882103	0.81459	0.32869735130401917	0.32782	0.790129032098	0.65737	0.345968753099	0.17326	T	0.514943	0.82926	D	0.0158956	0.53826	T	0.000391494	0.70360	D	0.449623435735703	0.30783	T	0.848715	0.53056	T	0.094839364	0.22306	0.08112273	0.18409	0.094839364	0.22306	0.08112273	0.18408	-5.183	0.47444	T	0.2416545928320369	0.32735	0.098	0.17402	B	.;.;.;.	.;.;.;.	2.622588	0.34083	19.53	0.97881396996450321	0.36607	0.25204	0.22628	N	AEFGBI	0.116272	0.22826	N	-0.179274034360619	0.33999	1.935358	-0.353391295735086	0.26404	1.458217	0.999925209262256	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.85	2.31	0.27816	2.022000	0.40651	4.481000	0.43534	-0.159000	0.11634	0.136000	0.23442	0.993000	0.31925	0.022000	0.11911	0.1667:0.0:0.6929:0.1405	7.357	0.25898	792	0.45996	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1221.83	38	chr17	1496787	.	G	C	1221.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.513;DP=310;ExcessHet=0;FS=1.522;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=1.02;SOR=0.876	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1232,0,1954	5	0	1	0
chr17	4554215	4554215	C	G	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon3:c.G358C:p.D120H,MYBBP1A:NM_014520:exon3:c.G358C:p.D120H	.	418	1082	21	1	0	23	0.0105167	.	.	.	2814743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0076	0.00199681	0.0078	0.0014	0.0012	0	0.0070	0.0118	0.0066	0.0049	0.0074579	1153	154602	rs142004671	0.0080	0.0080	0.0081	0.0079	0.0109	0.0078	0.0078	0.0088	0.0081	0.0013	0.0012	0.0391	0	0.0058	0.0109	0.0083	0.0085	0.0046	0.0062	0.0062	0.0061	0.0062	0.0085	0.0058	0.0057	0.0079	0.0077	0.0015	0	0.0035	0.0352	0	0.0071	0.0102	0.0085	0.0062	0.0070	0.023	0.49613	D	0.031	0.54159	D	0.928	0.52977	P	0.682	0.57594	P	0.210206	0.16384	N	0.640390	1	0.08975	N	2.24	0.63355	M	0.96	0.42888	T	-1.54	0.37375	N	0.333	0.37405	-1.0151	0.25304	T	0.102	0.37593	T	10	0.0081909	0.00186	T	.	.	.	0.103	0.29403	.	.	0.557519804684	0.55412	0.2207044583696533	0.21985	.	.	0.322130858898	0.13744	T	0.036362	0.24073	T	-0.476759	0.00773	T	-0.449646	0.27737	T	0.0315098894913136	0.02228	T	0.90121	0.65680	D	0.07455327	0.16739	0.09663519	0.22970	0.07455327	0.16739	0.09663519	0.22969	-7.802	0.59713	D	.	.	0.155	0.35098	B	.;.	.;.	2.340211	0.29987	18.30	0.99218316548581387	0.55808	0.45620	0.27579	N	AEFGBI	0.214466	0.33993	N	-0.228159475054488	0.31982	1.798906	-0.382606708469777	0.25515	1.403658	0.999905578868255	0.45458	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	0.588	0.16630	0.053000	0.14067	0.090000	0.14504	0.599000	0.40250	0.025000	0.20085	0.000000	0.08366	0.830000	0.39126	0.0:0.4527:0.0:0.5473	8.507	0.32356	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.006793	0.026316	0.000000	0.000000	0.003049	0.000000	0.1667	1261.06	36	chr17	4554215	.	C	G	1261.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.542;DP=242;ExcessHet=0.4139;FS=2.817;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.144;SOR=1.061	GT:AD:DP:GQ:PL	0/1:31,28:59:99:768,0,872	4	0	2	0
chr17	5444279	5444279	C	G	exonic	DHX33	.	nonsynonymous SNV	DHX33:NM_001199699:exon11:c.G1531C:p.V511L,DHX33:NM_020162:exon12:c.G2050C:p.V684L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00700795647911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.37750	T	0.431	0.15456	T	0.022	0.36638	B	0.053	0.38946	B	0.000076	0.52346	N	0.129428	0.999528	0.47407	D	1.79	0.46772	L	4.06	0.11407	T	-1.3	0.33798	N	0.099	0.15888	-1.0935	0.04974	T	0.034	0.14683	T	10	0.1486288	0.28142	T	0.007008	0.18567	T	0.051	0.14325	0.359	0.36222	0.594874987132	0.59165	0.41446656259253273	0.41362	0.293512613635	0.31773	0.519453823566	0.41549	T	0.023836	0.23026	T	-0.234044	0.16118	T	-0.573964	0.15087	T	0.322547672419926	0.25925	T	0.813419	0.50261	T	0.063225	0.13291	0.11203683	0.27031	0.063225	0.13290	0.11203683	0.27030	-5.608	0.42865	T	.	.	0.235	0.51359	B	.;.	.;.	1.920929	0.24395	16.38	0.95629214491599779	0.27408	0.89442	0.49909	D	AEFBI	0.204432	0.33087	N	-0.274458695972809	0.30139	1.677692	-0.196935141287074	0.31649	1.793091	0.59126744337202	0.21649	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.6	3.61	0.40494	2.200000	0.42358	2.757000	0.34577	-0.214000	0.08267	0.981000	0.35396	0.994000	0.32194	0.231000	0.22761	0.0:0.8496:0.1504:0.0	14.220	0.65367	623	0.65786	Domain of unknown function DUF1605;Domain of unknown function DUF1605	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2932.06	35	chr17	5444279	.	C	G	2932.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.94;DP=366;ExcessHet=0.4139;FS=0.494;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.14;SOR=0.758	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1410,0,1363	4	0	2	0
chr17	5517800	5517800	G	A	exonic	NLRP1	.	stopgain	NLRP1:NM_033007:exon13:c.C3781T:p.Q1261X,NLRP1:NM_014922:exon14:c.C3871T:p.Q1291X,NLRP1:NM_033006:exon14:c.C3913T:p.Q1305X,NLRP1:NM_001033053:exon15:c.C4015T:p.Q1339X,NLRP1:NM_033004:exon15:c.C4003T:p.Q1335X	Autoinflammation with arthritis and dyskeratosis, Autosomal recessive, Autosomal dominant;Palmoplantar carcinoma, multiple self-healing	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239830	0.15736	N	0.471873	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.775	0.90251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309596	0.83715	D	0.206937	0.83504	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.;.;.	.;.;.;.;High;.;.;.;.;.	8.201654	0.97290	37	0.94358168006325238	0.24714	0.03892	0.09266	N	AEFGBI	0.028168	0.02433	N	0.0637027734054764	0.44775	2.745457	-0.359112027983121	0.26228	1.447348	0.997813962823436	0.36062	0.706298	0.61202	0	0.709663	0.81188	0	0.573078	0.19857	0	0.711	0.71501	0	.	.	3.85	-1.4	0.08499	-0.510000	0.06411	-0.734000	0.07648	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.341000	0.25455	0.0:0.304:0.414:0.282	7.169	0.24883	682	0.59757	.;.;FIIND domain|FIIND domain;FIIND domain|FIIND domain;FIIND domain|FIIND domain;.;.;.;FIIND domain|FIIND domain;FIIND domain|FIIND 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	.	.	.	.	.	.	.	.	0.08333	1489.83	35	chr17	5517800	.	G	A	1489.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.37;DP=324;ExcessHet=0;FS=2.993;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.217;SOR=0.652	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1500,0,1866	5	0	1	0
chr17	9808871	9808871	A	G	exonic	GSG1L2	.	nonsynonymous SNV	GSG1L2:NM_001310219:exon3:c.T470C:p.L157P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.266441552101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000007	0.62929	U	0.000000	.	.	.	.	.	.	-3.47	0.94546	D	.	.	.	0.822	0.81758	1.058	0.98289	D	0.865	0.95502	D	6	0.9671967	0.96227	D	0.266442	0.89711	D	0.946	0.98921	0.804	0.92230	0.794864485838	0.79295	0.9482244358027837	0.94805	.	.	.	.	.	0.262681	0.63428	T	0.34314	0.86046	D	0.25512	0.85863	D	0.977516770362854	0.71881	D	0.383462	0.09368	T	0.35348418	0.57336	0.44387156	0.67588	0.35348418	0.57337	0.44387156	0.67589	-7.75	0.59354	D	.	.	0.113	0.22318	B	.	.	3.740828	0.53561	23.4	0.68803796543059514	0.08772	0.98563	0.84133	D	AEFGBI	0.935835	0.93128	D	0.245795622243078	0.53431	3.512011	0.245214750305913	0.52377	3.412967	0.81108636824517	0.24356	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	4.23	0.49319	8.428000	0.90146	6.360000	0.55506	0.756000	0.94297	0.988000	0.36536	0.999000	0.35428	0.454000	0.27984	1.0:0.0:0.0:0.0	12.739	0.56613	889	0.27310	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1630.83	47	chr17	9808871	.	A	G	1630.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.7;DP=357;ExcessHet=0;FS=0.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.943;SOR=0.813	GT:AD:DP:GQ:PL	0/1:65,62:127:99:1641,0,1612	5	0	1	0
chr17	20579850	20579850	G	A	exonic	CDRT15L2	.	nonsynonymous SNV	CDRT15L2:NM_001190790:exon1:c.G107A:p.R36H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00508874945449	.	.	1.252e-05	0	0	0	0	0	0	8.003e-05	3.84e-05	1	26028	rs775897182	1.096e-05	1.094e-05	5.451e-06	1.653e-05	0.0001	6.49e-06	5.25e-06	6.267e-05	4.773e-05	2.99e-05	0	0	2.52e-05	0	0	3.599e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.33	0.33268	L	0.14	0.60854	T	-2.78	0.58896	D	0.155	0.16028	-0.9497	0.41023	T	0.149	0.47610	T	7	0.11070377	0.20702	T	0.005089	0.12908	T	0.093	0.26882	0.292	0.25400	0.270001397563	0.26616	0.041626339339827075	0.04107	0.641984679815	0.57776	0.48286396265	0.36451	T	0.08074	0.36434	T	-0.370251	0.03581	T	-0.56411	0.15992	T	0.134818294350909	0.15820	T	0.573543	0.20534	T	0.04210463	0.06324	0.041941147	0.04881	0.04210463	0.06324	0.041941147	0.04880	-5.6	0.42792	T	.	.	0.119	0.24430	B	.	.	0.185251	0.05720	2.167	0.98041087854755971	0.37789	0.00379	0.01920	N	AEFI	0.027827	0.02344	N	-0.688117120222835	0.16359	0.8327669	-0.883837606019797	0.12477	0.6419983	3.04135220058678E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	1.05	0.19280	-0.105000	0.10876	-1.034000	0.06538	-0.916000	0.02226	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.426	0.15725	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1570.83	38	chr17	20579850	.	G	A	1570.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=51.48;MQRankSum=-2.511;QD=14.68;ReadPosRankSum=2.11;SOR=0.643	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1581,0,1127	5	0	1	0
chr17	28642973	28642973	A	C	exonic	KIAA0100	.	nonsynonymous SNV	KIAA0100:NM_001321560:exon5:c.T411G:p.H137Q,KIAA0100:NM_001321561:exon5:c.T411G:p.H137Q,KIAA0100:NM_014680:exon5:c.T411G:p.H137Q	.	417	1074	31	0	0	31	0.0142267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	.	0.0018	0.00439297	0.0035	0.0006	0.0009	0	0.0021	0.0032	0.0022	0.0108	0.0032082	496	154602	rs149451782	0.0024	0.0025	0.0022	0.0027	0.0097	0.0024	0.0024	0.0091	0.0089	0.0005	0.0017	0.0128	2.525e-05	0.0019	0.0084	0.0018	0.0030	0.0097	0.0019	0.0019	0.0018	0.0020	0.0103	0.0017	0.0016	0.0081	0.0072	0.0002	0	0.0024	0.0092	0	0.0020	0.0068	0.0020	0.0028	0.0103	0.006	0.61437	D	0.022	0.57587	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.998413	0.81001	D	1.1	0.28011	L	1.64	0.27822	T	-5.28	0.84246	D	0.885	0.88356	-1.0606	0.11607	T	0.105	0.38562	T	10	0.010204822	0.00228	T	.	.	.	0.370	0.68930	0.727	0.86111	0.39843156188	0.39459	0.6512935834994144	0.65065	0.787135550777	0.65582	0.709600806236	0.68535	T	0.087091	0.37866	T	-0.268044	0.11976	T	-0.149842	0.59257	T	0.0463707807414464	0.04851	T	0.830817	0.49719	T	0.56363624	0.70710	0.56988955	0.75096	0.56363624	0.70711	0.56988955	0.75097	-2.606	0.06549	T	.	.	0.426	0.60983	A	.	.	1.724629	0.21953	15.42	0.98977952168684424	0.49680	0.80445	0.40081	D	AEFDBCI	0.239770	0.36167	N	0.0789139029398264	0.45480	2.803825	-0.00260116357693962	0.39599	2.350308	0.999404282954691	0.39524	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.39	-0.728	0.10599	0.558000	0.23174	-0.616000	0.08197	0.756000	0.94297	0.989000	0.36753	0.000000	0.08366	0.983000	0.59808	0.4938:0.0:0.5062:0.0	10.700	0.45115	242	0.90534	FMP27, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.005051	0.009511	0.002924	0.000000	0.000000	0.006098	0.015152	0.08333	784.83	33	chr17	28642973	.	A	C	784.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.44;DP=245;ExcessHet=0;FS=1.944;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=3.02;SOR=0.485	GT:AD:DP:GQ:PL	0/1:41,33:74:99:795,0,1042	5	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3282.55	76	chr17	37257713	.	C	T	3282.55	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.842;DP=421;ExcessHet=11.5949;FS=462.603;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.71;SOR=10.961	GT:AD:DP:GQ:PL	0/1:37,46:83:99:618,0,529	0	0	6	0
chr17	37625924	37625924	G	C	exonic	DDX52	.	nonsynonymous SNV	DDX52:NM_007010:exon8:c.C1107G:p.D369E,DDX52:NM_001291476:exon9:c.C783G:p.D261E	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00674468930645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1471024863	8.209e-06	8.209e-06	6.806e-06	9.626e-06	0.0002	4.38e-06	3.46e-06	3.85e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.15842	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999957	0.52396	D	.	.	.	.	.	.	.	.	.	0.675	0.68255	-0.9427	0.42185	T	0.014	0.05705	T	10	0.42633137	0.57198	T	0.006745	0.17812	T	.	.	0.414	0.45216	0.401042353794	0.39719	0.47013895772493475	0.46932	.	.	0.59490275383	0.52185	T	.	.	.	0.164581	0.70624	D	0.0141193	0.71249	D	0.24976971745491	0.22862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.72258	P	.	.	3.069166	0.41247	21.3	0.98937906262715392	0.48883	0.98382	0.82208	D	AEFGBI	0.554769	0.56548	D	-0.191418076448726	0.33491	1.900634	-0.0379065778202122	0.38018	2.233966	0.0269926188882844	0.13747	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	2.67	0.30756	3.967000	0.56509	4.045000	0.41458	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2037:0.0:0.7963:0.0	11.242	0.48205	47	0.97709	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1212.83	42	chr17	37625924	.	G	C	1212.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.213;DP=316;ExcessHet=0;FS=1.494;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-0.102;SOR=0.9	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1223,0,1697	5	0	1	0
chr17	37980022	37980022	G	A	exonic	TBC1D3D;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369501:exon11:c.C1013T:p.P338L,TBC1D3L:NM_001369499:exon12:c.C1262T:p.P421L,TBC1D3L:NM_001369500:exon12:c.C1079T:p.P360L,TBC1D3H:NM_001123392:exon13:c.C1079T:p.P360L,TBC1D3L:NM_001291459:exon13:c.C1079T:p.P360L,TBC1D3I:NM_001291463:exon13:c.C1079T:p.P360L,TBC1D3D:NM_001291465:exon13:c.C1079T:p.P360L,TBC1D3L:NM_001369503:exon13:c.C329T:p.P110L	.	.	.	.	.	.	.	.	0.1154	0.368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0263983380715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.909e-06	5.663e-06	1.473e-06	1.037e-05	0.0006	2.54e-06	1.84e-06	0.0001	4.43e-05	0	0	0	0	0	0.0006	1.891e-06	1.807e-05	3.67e-05	1.741e-05	1.567e-05	0	3.561e-05	0.0005	2.89e-06	1.08e-06	8.643e-05	3.594e-05	0	0	0	0	0	0	0	0	0	0.0005	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000021	0.55875	U	0.071532	0.999877	0.81001	D	.	.	.	.	.	.	.	.	.	0.146	0.15749	-1.1082	0.03229	T	0.086	0.33494	T	9	0.17176199	0.31913	T	0.026398	0.49309	D	.	.	0.322	0.30226	0.337135696972	0.33324	0.0570103337567192	0.05642	.	.	0.517232656479	0.41236	T	0.224467	0.58891	T	-0.0461105	0.45034	T	-0.304011	0.44300	T	0.587821483612061	0.35920	D	0.822218	0.48193	T	0.13838226	0.32006	0.11591273	0.27982	0.13838226	0.32006	0.11591273	0.27982	-3.547	0.17096	T	.	.	0.102	0.18206	B	.;.	.;.	3.055247	0.41009	21.3	0.9406609643888878	0.24204	0.19015	0.20494	N	AEFI	0.203981	0.33045	N	-0.570257310090343	0.19853	1.042285	-0.834354698888542	0.13663	0.7100639	1.13579071790145E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.109	-0.218	0.12495	2.418000	0.44316	-4.902000	0.01934	0.235000	0.18186	0.931000	0.32310	0.000000	0.08366	0.108000	0.18652	.	.	.	158	0.93861	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	839.75	35	chr17	37980022	.	G	A	839.75	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.49;DP=221;ExcessHet=0;FS=10.205;MLEAC=1;MLEAF=0.1;MQ=34.93;MQRankSum=-4.326;QD=9.13;ReadPosRankSum=0.403;SOR=1.405	GT:AD:DP:GQ:PL	0/1:49,43:92:99:849,0,962	4	0	1	1
chr17	38352537	38352537	C	T	exonic	SOCS7	.	nonsynonymous SNV	SOCS7:NM_014598:exon1:c.C485T:p.A162V	.	353	1149	18	2	0	22	0.00948276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0028	0.00179712	0.0106	0	0.0060	0	0	0.0272	0.0086	0.0043	0.0016817	260	154602	rs201577908	0.0070	0.0067	0.0069	0.0070	0.0157	0.0069	0.0068	0.0131	0.0121	0.0010	0.0035	0.0330	2.803e-05	0.0055	0.0157	0.0072	0.0076	0.0032	0.0055	0.0055	0.0058	0.0053	0.0076	0.0052	0.0051	0.0070	0.0068	0.0011	0.0044	0.0048	0.0349	0.0002	0.0046	0.0102	0.0076	0.0080	0.0037	.	.	.	0.353	0.17320	T	0.0	0.02946	B	0.0	0.01387	B	0.136634	0.18440	N	0.427989	0.990365	0.24180	N	-0.55	0.02420	N	.	.	.	.	.	.	0.194	0.26596	-1.0624	0.11166	T	0.032	0.13942	T	10	0.0034009516	0.00059	T	.	.	.	.	.	.	.	0.342376198884	0.33841	0.21693401798877182	0.21609	.	.	0.82646381855	0.86020	D	0.185673	0.53871	T	-0.461897	0.00957	T	-0.429011	0.30047	T	0.0266198450500308	0.01491	T	.	.	.	0.063396886	0.13344	0.120725855	0.29132	0.063396886	0.13344	0.120725855	0.29132	-5.472	0.41606	T	.	.	.	.	.	.;.	.;.	3.836651	0.55490	23.6	0.94707138394335744	0.25366	0.41057	0.26573	N	AEFDBCI	0.049406	0.08533	N	-0.619744559155887	0.18351	0.9520818	-0.501223864985424	0.22121	1.199909	0.999950952703517	0.48110	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	3.4	1.29	0.20717	0.284000	0.18624	2.964000	0.35768	0.571000	0.28931	0.974000	0.34632	1.000000	0.68203	0.996000	0.76049	0.0:0.4477:0.4269:0.1254	5.095	0.14062	172	0.93355	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012987	0.013699	0.003788	0.034351	0.000000	0.000000	0.004762	0.000000	0.08333	677.83	36	chr17	38352537	.	C	T	677.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.809;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.16;SOR=0.601	GT:AD:DP:GQ:PL	0/1:24,33:57:99:688,0,524	5	0	1	0
chr17	38466942	38466942	G	A	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon7:c.G1259A:p.R420Q	.	412	1101	9	0	0	9	0.00407056	.	.	.	2391301	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.011803118005	.	0.000399361	0.0005	0.0009	0	0	0	0.0012	0	0	0.00011	17	154602	rs199766741	0.0013	0.0013	0.0013	0.0013	0.0044	0.0013	0.0012	0.0030	0.0026	0.0001	0.0008	0.0012	5.597e-05	0.0003	0.0044	0.0015	0.0011	0.0001	0.0009	0.0009	0.0012	0.0007	0.0015	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0015	0.0014	0	0.0004	0	0.0014	0.0019	0	.	.	.	0.144	0.35840	T	0.58	0.90584	P	0.068	0.68407	B	0.000001	0.84330	D	0.000000	0.539769	0.31422	N	1.955	0.52871	M	.	.	.	.	.	.	0.411	0.45142	-0.8899	0.48943	T	0.100	0.37137	T	10	0.028384745	0.00971	T	0.011803	0.29782	T	.	.	.	.	0.451599300725	0.44785	0.692000541036402	0.69140	.	.	0.752668440342	0.74840	T	0.061732	0.31730	T	-0.427233	0.01541	T	-0.393252	0.34170	T	0.157365947961807	0.17674	T	.	.	.	0.21831653	0.44336	0.19620503	0.43338	0.21831653	0.44336	0.19620503	0.43337	-11.318	0.81373	D	.	.	0.454	0.62401	A	.;.	.;.	4.652954	0.74191	26.1	0.99768749097875431	0.85666	0.99128	0.91637	D	AEFDBI	0.846071	0.76296	D	0.185954620141275	0.50524	3.241638	0.229496394395113	0.51490	3.33116	0.999999991618231	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.65	3.68	0.41359	8.801000	0.91525	9.855000	0.82016	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0894:0.0:0.9106:0.0	11.684	0.50739	115	0.95340	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001124	0.000000	0.000000	0.004386	0.000000	0.000000	0.000000	0.000000	0.08333	886.83	46	chr17	38466942	.	G	A	886.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.815;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.02;SOR=0.754	GT:AD:DP:GQ:PL	0/1:40,37:77:99:897,0,922	5	0	1	0
chr17	39684607	39684607	G	C	exonic	PGAP3	.	nonsynonymous SNV	PGAP3:NM_001291728:exon3:c.C422G:p.A141G,PGAP3:NM_001291730:exon3:c.C422G:p.A141G,PGAP3:NM_001291732:exon3:c.C422G:p.A141G,PGAP3:NM_001291733:exon3:c.C422G:p.A141G,PGAP3:NM_033419:exon3:c.C422G:p.A141G	Hyperphosphatasia with mental retardation syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	237370	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.143	.	0.0060	0.00299521	0.0085	0.0015	0.0009	0	0.0347	0.0116	0.0069	0	0.0080853	1250	154602	rs35464006	0.0083	0.0083	0.0085	0.0080	0.0087	0.0081	0.0081	0.0086	0.0085	0.0014	0.0011	0.0048	0	0.0332	0	0.0087	0.0058	4.655e-05	0.0075	0.0075	0.0067	0.0084	0.0094	0.0072	0.0070	0.0088	0.0086	0.0013	0	0.0027	0.0075	0	0.0354	0	0.0094	0.0052	0	0.277	0.44358	T	0.49	0.18789	T	0.314	0.32870	B	0.22	0.37792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.565	0.39561	L	.	.	.	-2.21	0.49684	N	0.655	0.68777	-0.8880	0.49105	T	0.148	0.47451	T	9	0.0071570873	0.00163	T	.	.	.	0.143	0.38195	.	.	0.636784704464	0.63380	0.40331586679586834	0.40247	0.4632225215	0.45833	0.659490644932	0.61336	T	0.402397	0.80037	T	-0.256542	0.13307	T	-0.13025	0.60951	T	0.0221618474404852	0.00927	T	0.90161	0.72788	D	0.5174382	0.68112	0.47687602	0.69691	0.5308014	0.68877	0.4585404	0.68541	-8.069	0.61540	D	0.13025508845020842	0.13684	0.118	0.33504	B	.;.;.;.	.;.;.;.	4.345752	0.66707	25.0	0.99430352471829209	0.64227	0.99472	0.96450	D	AEFBI	0.927976	0.91147	D	0.149599571392518	0.48792	3.087262	0.292766874032707	0.55115	3.675027	0.999999928267346	0.74766	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.5	4.5	0.54382	8.514000	0.90373	8.660000	0.77968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.474	0.83970	552	0.72024	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001012	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.08333	486.83	39	chr17	39684607	.	G	C	486.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.766;DP=209;ExcessHet=0;FS=1.402;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=-1.36;SOR=1.022	GT:AD:DP:GQ:PL	0/1:12,19:31:99:497,0,334	5	0	1	0
chr17	39974278	39974278	G	A	exonic	GSDMA	.	nonsynonymous SNV	GSDMA:NM_178171:exon9:c.G757A:p.V253I	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00279396523765	0.0002	0.00119808	0.0014	0.0001	0.0002	0	0	0.0002	0.0015	0.0100	0.001022	158	154602	rs200722398	0.0006	0.0006	0.0004	0.0009	0.0083	0.0006	0.0006	0.0078	0.0076	0	9.113e-05	0	5.043e-05	0	0.0024	0.0001	0.0007	0.0083	0.0003	0.0003	0.0003	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	0	0.0011	0	0	0	0	0	0.0002	0.0005	0.0068	0.452	0.08943	T	0.732	0.05128	T	0.002	0.09854	B	0.001	0.04355	B	0.959492	0.08233	N	0.977537	1	0.08975	N	1.04	0.26193	L	1.99	0.21666	T	-0.11	0.08653	N	0.086	0.06322	-0.9674	0.37733	T	0.019	0.07939	T	10	0.0049937367	0.00107	T	0.002794	0.05810	T	0.038	0.09825	.	.	0.0297737177859	0.01360	0.09921580017986624	0.09852	0.0598782766333	0.06659	0.284895420074	0.08185	T	0.003831	0.03242	T	-0.732285	0.00023	T	-0.818538	0.01482	T	0.00673396509254671	0.00076	T	0.420158	0.11156	T	0.019484436	0.00480	0.021492226	0.00199	0.019484436	0.00479	0.021492226	0.00199	-3.811	0.20969	T	.	.	0.071	0.03925	B	.;.	.;.	0.804128	0.11749	8.324	0.19541576626061555	0.00664	0.06998	0.13024	N	AEFBI	0.034783	0.04367	N	-0.994334959763885	0.08724	0.4101539	-0.920376276963245	0.11614	0.5927452	0.935632730746567	0.27221	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.59	1.3	0.20778	0.990000	0.29242	1.034000	0.23503	0.676000	0.76740	0.513000	0.27056	0.000000	0.08366	0.012000	0.09680	0.2625:0.0:0.5816:0.1559	4.364	0.10651	274	0.89249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003535	0.000000	0.002717	0.000000	0.000000	0.000000	0.003086	0.011364	0.08333	698.83	35	chr17	39974278	.	G	A	698.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.604;DP=256;ExcessHet=0;FS=2.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-1.988;SOR=0.697	GT:AD:DP:GQ:PL	0/1:35,30:65:99:709,0,835	5	0	1	0
chr17	40864903	40864903	C	T	exonic	KRT12	.	nonsynonymous SNV	KRT12:NM_000223:exon3:c.G710A:p.R237Q	Meesmann corneal dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0409719988233	.	.	1.647e-05	0	8.637e-05	0	0.0002	0	0	0	1.29e-05	2	154602	rs779768900	1.573e-05	1.573e-05	1.906e-05	1.238e-05	2.519e-05	1.048e-05	8.75e-06	7.31e-06	5.72e-06	0	2.236e-05	0	2.519e-05	1.872e-05	0	1.259e-05	9.935e-05	0	3.941e-05	3.94e-05	3.853e-05	4.034e-05	0.0002	1.715e-05	1.129e-05	5.287e-05	2.835e-05	0	0	0.0002	0	0	0.0002	0	1.47e-05	0	0	0.005	0.63226	D	0.067	0.44302	T	0.569	0.38523	P	0.099	0.30579	B	0.003809	0.34463	N	0.120677	0.999998	0.08975	N	1.43	0.35840	L	-2.54	0.89496	D	-3.04	0.62863	D	0.353	0.39457	-0.3461	0.73666	T	0.541	0.83084	D	10	0.23758203	0.40862	T	0.040972	0.59674	D	0.291	0.61040	0.58	0.70604	0.866756019994	0.86546	0.7168756012605785	0.71630	0.313697373287	0.33660	0.298485159874	0.10176	T	0.760073	0.93493	D	-0.118299	0.33402	T	-0.32484	0.42043	T	0.78573477268219	0.45412	D	0.814918	0.46941	T	0.32884648	0.55376	0.28650543	0.54658	0.32884648	0.55376	0.28650543	0.54657	-8.531	0.64634	D	0.3320612153189012	0.43005	0.121	0.40921	B	.;.;.	.;.;.	2.881535	0.38135	20.7	0.99899857695863103	0.97199	0.15506	0.18945	N	AEFDBI	0.132797	0.25223	N	-0.377745713296958	0.26264	1.432044	-0.433440577589994	0.24023	1.313193	0.180352400684773	0.17863	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.96	0.639	0.16919	-0.065000	0.11575	0.084000	0.14428	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.6335:0.0:0.3665	11.023	0.46944	99	0.95913	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1585.83	34	chr17	40864903	.	C	T	1585.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.74;DP=379;ExcessHet=0;FS=1.175;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-0.945;SOR=0.707	GT:AD:DP:GQ:PL	0/1:121,68:189:99:1596,0,2910	5	0	1	0
chr17	40993808	40993808	C	T	exonic	KRTAP3-3	.	nonsynonymous SNV	KRTAP3-3:NM_033185:exon1:c.G290A:p.G97D	.	420	1081	21	0	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00280950989534	7.7e-05	0.000199681	0.0006	9.632e-05	0.0009	0	0	0.0004	0	0.0024	0.0005433	84	154602	rs368702159	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0027	0.0023	5.974e-05	0.0005	0.0008	0	0	0.0040	0.0002	0.0009	0.0024	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	7.215e-05	0	0.0003	0.0012	0	0	0	0.0004	0.0019	0.0002	0.747	0.03620	T	0.152	0.32249	T	0.085	0.24868	B	0.057	0.26280	B	0.252389	0.15482	N	0.630917	0.992893	0.23807	N	.	.	.	1.87	0.24085	T	-0.82	0.22508	N	0.183	0.19861	-1.0386	0.17740	T	0.053	0.22307	T	9	0.013206512	0.00281	T	0.00281	0.05869	T	0.041	0.10877	.	.	0.314716216878	0.31082	0.09344851848870168	0.09276	0.34989876258	0.36836	0.30668258667	0.11406	T	0.005354	0.04800	T	-0.571177	0.00218	T	-0.599709	0.12835	T	0.0120510934403371	0.00191	T	.	.	.	0.048656538	0.08516	0.07998882	0.18057	0.048656538	0.08515	0.07998882	0.18056	-4.65	0.32794	T	.	.	0.085	0.10111	B	.	.	0.861408	0.12337	8.878	0.17646016997763231	0.00523	0.18353	0.20225	N	AEFGBI	0.072297	0.14424	N	-0.353712650571673	0.27136	1.48641	-0.290783467502863	0.28401	1.583308	0.00111137648523761	0.08239	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.79	4.8	0.61157	0.468000	0.21763	0.043000	0.13895	0.581000	0.30040	0.353000	0.25784	0.000000	0.08366	0.060000	0.15972	0.0:0.8968:0.0:0.1032	9.510	0.38234	213	0.91726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.08333	1524.83	36	chr17	40993808	.	C	T	1524.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.423;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.83;MQRankSum=1.41;QD=11.91;ReadPosRankSum=1.42;SOR=0.704	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1535,0,1573	5	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1617.41	219	chr17	41041286	.	G	*	1617.41	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.57;DP=573;ExcessHet=0;FS=2.341;MLEAC=2;MLEAF=0.167;MQ=58.87;MQRankSum=-2.599;QD=3.81;ReadPosRankSum=0.255;SOR=0.981	GT:AD:DP:GQ:PL	0/1:81,92:206:99:2594,0,3546	4	0	2	0
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1576.02	218	chr17	41041341	.	G	*	1576.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.404;DP=560;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=58.83;MQRankSum=-2.528;QD=3.82;ReadPosRankSum=-2.339;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,89:195:99:0|1:41041341_G_*:2661,0,2994:41041341	4	0	2	0
chr17	41041366	41041366	A	0	exonic	KRTAP1-1	.	.	.	.	420	996	92	0	14	106	0.0441459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1324.02	212	chr17	41041366	.	A	*	1324.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.226;DP=552;ExcessHet=0;FS=0.68;MLEAC=2;MLEAF=0.167;MQ=58.84;MQRankSum=-2.611;QD=3.25;ReadPosRankSum=-2.651;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,89:195:99:0|1:41041341_G_*:2664,0,2989:41041341	4	0	2	0
chr17	41041386	41041386	A	0	exonic	KRTAP1-1	.	.	.	.	419	1075	14	0	14	28	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	271.02	188	chr17	41041386	.	A	*	271.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.2;DP=507;ExcessHet=0;FS=3.079;MLEAC=2;MLEAF=0.167;MQ=58.73;MQRankSum=-2.308;QD=0.75;ReadPosRankSum=-2.295;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,90:174:99:0|1:41041341_G_*:2696,0,2529:41041341	4	0	2	0
chr17	41097654	41097654	C	G	exonic	KRTAP4-8	.	nonsynonymous SNV	KRTAP4-8:NM_031960:exon1:c.G431C:p.C144S	.	411	1108	3	0	0	3	0.00135196	.	.	.	2699129	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00168855006843	.	.	0.0007	0.0003	0	0	0.0004	0.0011	0	9.088e-05	3.84e-05	1	26028	rs755100550	0.0006	0.0006	0.0007	0.0006	0.0020	0.0006	0.0006	0.0011	0.0008	6.155e-05	0.0002	3.894e-05	0	0.0003	0.0020	0.0008	0.0005	1.187e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	2.445e-05	0	0.0001	0	0	0.0002	0	0.0005	0.0010	0	0.054	0.38633	T	0.033	0.54541	D	0.998	0.73220	D	0.966	0.71341	D	0.000125	0.49741	U	0.000000	0.62067	0.30782	N	3.47	0.92451	M	4.34	0.02341	T	-8.29	0.96961	D	0.236	0.40063	-1.1018	0.03880	T	0.035	0.14943	T	10	0.14781702	0.28003	T	0.001689	0.02805	T	0.140	0.37593	0.63	0.76588	0.151104730317	0.14643	0.3129882640765517	0.31211	0.111146524575	0.12538	0.249220967293	0.03686	T	0.085565	0.37529	T	-0.441681	0.01264	T	-0.499956	0.22351	T	0.364176571369171	0.27572	T	0.523548	0.40135	T	0.44810757	0.63921	0.39614582	0.64264	0.44810757	0.63922	0.39614582	0.64264	-7.849	0.60036	D	.	.	0.192	0.44240	B	.;.	.;.	3.297926	0.45254	22.1	0.65935547724222021	0.07914	0.91106	0.52872	D	AEFBI	0.346558	0.44133	N	0.329765093095938	0.57681	3.936514	0.138488689843416	0.46534	2.897936	0.0073815990307401	0.11453	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.73	3.73	0.41982	0.085000	0.14759	1.104000	0.24096	0.568000	0.28809	0.004000	0.16614	0.677000	0.26099	0.492000	0.28837	0.0:0.8775:0.0:0.1225	7.554	0.26980	312	0.87382	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002193	0.000000	0.004132	0.000000	0.000000	0.000000	0.003226	0.000000	0.08333	1778.83	66	chr17	41097654	.	C	G	1778.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.38;DP=396;ExcessHet=0;FS=1.955;MLEAC=1;MLEAF=0.083;MQ=40.91;MQRankSum=-1.303;QD=19.34;ReadPosRankSum=1.67;SOR=0.444	GT:AD:DP:GQ:PL	0/1:37,55:92:99:1789,0,1221	5	0	1	0
chr17	41350572	41350572	G	A	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon1:c.C196T:p.R66C	.	410	1058	53	1	0	55	0.0253339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.922	0.436287017873	0.0035	0.000798722	0.0043	0.0006	0.0037	0.0001	0.0008	0.0053	0.0055	0.0065	0.0040038	619	154602	rs140696036	0.0036	0.0036	0.0033	0.0038	0.0201	0.0035	0.0034	0.0171	0.0160	0.0005	0.0040	0.0231	5.038e-05	0.0009	0.0201	0.0030	0.0058	0.0061	0.0031	0.0031	0.0033	0.0029	0.0041	0.0028	0.0027	0.0033	0.0032	0.0006	0	0.0041	0.0236	0	0.0011	0.0034	0.0037	0.0071	0.0039	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.976	0.73562	D	0.000007	0.62929	D	0.000000	0.999999	0.58761	D	3.46	0.92336	M	-3.36	0.94067	D	-7.9	0.96191	D	0.976	0.98657	1.017	0.97482	D	0.898	0.96625	D	10	0.02853188	0.00984	T	0.436287	0.94078	D	0.922	0.98041	.	.	0.538421760271	0.53494	0.9097202378544089	0.90946	0.757084658312	0.64061	0.711831569672	0.68859	T	0.690892	0.91012	D	0.187443	0.72727	D	0.498946	0.94577	D	0.0767523785386575	0.09567	T	.	.	.	0.7987579	0.83826	0.78658015	0.87434	0.7987579	0.83828	0.78658015	0.87435	-9.252	0.69305	D	.	.	0.846	0.79557	P	.	.	5.387492	0.90267	31	0.9993401679230427	0.99535	0.99283	0.93924	D	AEFBI	0.909503	0.86623	D	0.807964928911192	0.86601	8.938252	0.733904308135246	0.84951	8.437471	0.683773634918903	0.22510	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.22	4.23	0.49319	8.096000	0.89369	6.317000	0.55438	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8528:0.1472	14.546	0.67619	150	0.94078	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018499	0.015152	0.013587	0.008197	0.050000	0.017241	0.030488	0.015152	0.08333	1901.83	34	chr17	41350572	.	G	A	1901.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.96;DP=333;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.588;SOR=0.7	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1912,0,1480	5	0	1	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	282.06	33	chr17	41382308	.	A	G	282.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.646;DP=403;ExcessHet=0.4139;FS=155.381;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.83;SOR=7.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,21:153:67:0|1:41382308_A_G:67,0,5140:41382308	4	0	2	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	214.06	33	chr17	41382311	.	C	G	214.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.958;DP=400;ExcessHet=0.4139;FS=155.381;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.74;SOR=7.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,21:153:67:0|1:41382308_A_G:67,0,5140:41382308	4	0	2	0
chr17	41621625	41621625	G	A	exonic	KRT17	.	nonsynonymous SNV	KRT17:NM_000422:exon4:c.C802T:p.R268C	Pachyonychia congenita 2, Autosomal dominant;Steatocystoma multiplex, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.260381732634	.	0.000199681	2.471e-05	0	8.637e-05	0	0	1.498e-05	0	6.056e-05	2.59e-05	4	154602	rs560576342	1.439e-05	1.573e-05	1.091e-05	1.79e-05	0.0002	9.24e-06	7.85e-06	9.25e-06	5.03e-06	0	4.473e-05	0	0	0	0.0002	1.169e-05	3.321e-05	3.482e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.011	0.55530	D	0.0	0.92824	D	0.726	0.42471	P	0.344	0.42549	B	0.000202	0.47681	D	0.000000	0.999797	0.81001	D	3.285	0.90273	M	-2.63	0.90083	D	-7.32	0.94537	D	0.755	0.77132	0.947	0.96346	D	0.820	0.93944	D	10	0.84648466	0.83815	D	0.260382	0.89483	D	0.729	0.90501	.	.	0.953522039099	0.95302	0.726774565108666	0.72621	0.508316111948	0.48989	0.634018063545	0.57714	T	0.948708	0.99246	D	0.0823191	0.62312	D	0.0563161	0.74000	D	0.73609560783668	0.42529	D	0.914708	0.73422	D	0.7097684	0.78595	0.7395276	0.84604	0.7097684	0.78596	0.7395276	0.84605	-10.074	0.74354	D	0.3605044837147235	0.45699	0.435	0.61993	A	.;.;.;.	.;.;.;.	5.640210	0.92738	33	0.99918117442906951	0.98586	0.94433	0.61150	D	AEFBCI	0.813809	0.73619	D	0.537077502408743	0.69297	5.33722	0.47183765035194	0.66132	4.912284	0.999999993907248	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.82	3.82	0.43153	4.444000	0.59743	11.775000	0.95959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.279	0.82485	353	0.85335	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000575	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	528.83	20	chr17	41621625	.	G	A	528.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.77;DP=170;ExcessHet=0;FS=6.369;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.602;SOR=0.2	GT:AD:DP:GQ:PL	0/1:23,22:45:99:539,0,513	5	0	1	0
chr17	41811518	41811518	C	T	exonic	P3H4	.	nonsynonymous SNV	P3H4:NM_006455:exon1:c.G398A:p.R133Q	.	89	1423	10	0	0	10	0.0035014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.900194473924	0.0041	0.00219649	0.0053	0.0019	0.0030	0	0.0035	0.0073	0.0041	0.0045	0.0042367	655	154602	rs200433757	0.0067	0.0066	0.0066	0.0067	0.0078	0.0065	0.0065	0.0076	0.0076	0.0015	0.0033	0.0013	0	0.0026	0.0023	0.0078	0.0047	0.0049	0.0050	0.0050	0.0049	0.0051	0.0081	0.0047	0.0046	0.0075	0.0073	0.0015	0.0363	0.0028	0.0017	0	0.0037	0	0.0081	0.0057	0.0037	0.099	0.30656	T	0.023	0.57104	D	0.991	0.64070	D	0.586	0.50343	P	0.000003	0.62929	D	0.056832	0.947752	0.26590	N	1.545	0.39105	L	-0.7	0.72785	T	-1.66	0.39692	N	0.218	0.24385	-0.7862	0.55950	T	0.234	0.60124	T	10	0.011135012	0.00245	T	0.900194	0.99248	D	0.277	0.59375	.	.	0.0762999501168	0.06990	0.39654065555026535	0.39569	0.855501403435	0.68735	0.796865165234	0.81485	T	0.038968	0.25026	T	-0.416183	0.01810	T	-0.365326	0.37434	T	0.0187566151484882	0.00587	T	0.840916	0.51656	T	0.09635647	0.22694	0.14154294	0.33703	0.09635647	0.22694	0.14154294	0.33702	-5.222	0.39165	T	.	.	0.113	0.22969	B	.;.	.;.	4.002391	0.58988	24.0	0.99821739916919339	0.90414	0.21155	0.21301	N	ALL	0.212340	0.33804	N	-0.233174938384371	0.31779	1.785467	-0.320889949082285	0.27424	1.521665	0.999999999235026	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.37	3.41	0.38145	1.537000	0.35689	0.878000	0.22371	-0.189000	0.09497	0.002000	0.15269	0.351000	0.24472	0.643000	0.32503	0.0:0.7428:0.164:0.0932	7.848	0.28602	554	0.71839	.;.	CNP	Breast_Mammary_Tissue	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001520	0.000000	0.000000	0.005882	0.000000	0.000000	0.003086	0.000000	0.08333	337.83	37	chr17	41811518	.	C	T	337.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.68;DP=168;ExcessHet=0;FS=3.981;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=-0.109;SOR=0.215	GT:AD:DP:GQ:PL	0/1:8,13:21:99:348,0,247	5	0	1	0
chr17	42554533	42554533	G	A	exonic	HSD17B1	.	nonsynonymous SNV	HSD17B1:NM_000413:exon5:c.G668A:p.S223N,HSD17B1:NM_001330219:exon5:c.G671A:p.S224N	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0262788258756	0.0018	0.00119808	0.0019	0.0004	0.0026	0	0	0.0023	0.0023	0.0023	0.0018564	287	154602	rs146195480	0.0020	0.0020	0.0020	0.0020	0.0025	0.0020	0.0019	0.0022	0.0020	0.0003	0.0025	0.0181	0	0	0.0005	0.0018	0.0029	0.0019	0.0016	0.0016	0.0015	0.0016	0.0031	0.0014	0.0013	0.0024	0.0021	0.0003	0.0022	0.0031	0.0144	0	0	0	0.0017	0.0028	0.0014	.	.	.	0.308	0.19845	T	0.001	0.07471	B	0.001	0.04355	B	0.034470	0.24766	N	0.468226	1	0.08975	N	1.47	0.36993	L	-3.15	0.92938	D	.	.	.	0.07	0.04307	-1.0667	0.10154	T	0.022	0.09147	T	9	0.003371209	0.00059	T	0.026279	0.49198	D	0.067	0.19503	.	.	0.696815536761	0.69419	0.2942490535099158	0.29337	0.278946880177	0.30372	0.330719292164	0.15044	T	0.248342	0.61813	T	-0.4029	0.02216	T	-0.34751	0.39490	T	0.010457578991876	0.00144	T	0.274073	0.04660	T	0.17813762	0.38816	0.1267093	0.30513	0.17813762	0.38816	0.1267093	0.30513	-5.969	0.46019	T	.	.	0.203	0.48365	B	.;.	.;.	-0.070497	0.03821	0.815	0.82126623377764441	0.14032	0.07158	0.13183	N	ALL	0.052726	0.09439	N	-1.63622708282546	0.01094	0.0475011	-1.75995056314822	0.00896	0.04007579	0.999999999998603	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.02	-8.04	0.00980	-0.836000	0.04489	0.412000	0.18122	-0.483000	0.05064	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.2555:0.2284:0.1701:0.346	0.191	0.00125	199	0.92292	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.008621	0.000000	0.000000	0.08333	1676.83	33	chr17	42554533	.	G	A	1676.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.434;DP=283;ExcessHet=0;FS=0.714;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.238;SOR=0.793	GT:AD:DP:GQ:PL	0/1:48,61:109:99:1687,0,1141	5	0	1	0
chr17	42688996	42688996	G	A	exonic	CNTNAP1	.	nonsynonymous SNV	CNTNAP1:NM_003632:exon10:c.G1577A:p.R526Q	Lethal congenital contracture syndrome 7, Autosomal recessive	430	1087	5	0	0	5	0.00229463	.	.	.	740766	not_provided|CNTNAP1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.0159927000698	0.0012	0.000399361	0.0016	0.0007	0.0009	0.0015	0	0.0017	0.0012	0.0031	0.0014489	224	154602	rs137982413	0.0017	0.0017	0.0016	0.0018	0.0027	0.0016	0.0016	0.0024	0.0023	0.0004	0.0008	0.0017	0.0011	9.368e-05	0.0003	0.0018	0.0015	0.0027	0.0013	0.0013	0.0012	0.0013	0.0021	0.0011	0.0011	0.0017	0.0016	0.0007	0	0.0006	0.0012	0.0010	0.0004	0	0.0019	0	0.0021	0.457	0.08813	T	0.314	0.19480	T	0.002	0.09854	B	0.002	0.06944	B	0.009847	0.30173	N	0.230563	0.895557	0.27801	N	0.345	0.11182	N	-1.01	0.76168	T	-0.21	0.10308	N	0.197	0.21710	-0.9623	0.38742	T	0.181	0.52874	T	10	0.01132682	0.00248	T	0.015993	0.37021	T	0.183	0.45592	.	.	0.603876675548	0.60071	0.5201364610363866	0.51936	0.454858999474	0.45167	0.381955206394	0.22533	T	0.05685	0.30404	T	-0.359094	0.04181	T	-0.293206	0.45439	T	0.00830203906857977	0.00100	T	0.80082	0.44648	T	0.028492136	0.02194	0.037494153	0.03413	0.028492136	0.02194	0.037494153	0.03413	-4.854	0.35214	T	0.28241796576326245	0.37792	0.095	0.14706	B	.	.	2.570512	0.33311	19.30	0.99567343019183407	0.72136	0.96119	0.67620	D	AEFBI	0.556634	0.56659	D	-0.379320972913189	0.26207	1.42853	-0.174809806435855	0.32467	1.847344	0.984042134943613	0.30654	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	4.73	3.76	0.42368	2.062000	0.41039	5.194000	0.47909	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.998000	0.85391	0.0863:0.0:0.7474:0.1663	7.377	0.26007	268	0.89479	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	1656.83	34	chr17	42688996	.	G	A	1656.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.57;DP=293;ExcessHet=0;FS=3.462;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.974;SOR=0.44	GT:AD:DP:GQ:PL	0/1:50,63:113:99:1667,0,1177	5	0	1	0
chr17	43013137	43013137	C	T	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon3:c.C211T:p.R71W,IFI35:NM_005533:exon3:c.C211T:p.R71W	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0407514675776	0.0008	0.000599042	0.0010	0.0005	0.0010	0.0002	0	0.0010	0	0.0019	0.0009185	142	154602	rs139469566	0.0013	0.0013	0.0013	0.0013	0.0021	0.0013	0.0012	0.0018	0.0017	0.0003	0.0009	0.0002	0.0002	1.872e-05	0.0002	0.0015	0.0009	0.0021	0.0007	0.0007	0.0007	0.0007	0.0015	0.0006	0.0006	0.0009	0.0008	0.0004	0	0.0005	0	0.0004	0.0002	0	0.0011	0	0.0015	0.003	0.68238	D	0.017	0.60972	D	0.999	0.77913	D	0.91	0.64641	D	0.004331	0.33859	N	0.281959	1	0.08975	N	2.135	0.59519	M	0.64	0.52867	T	-4.07	0.75695	D	0.434	0.47301	-0.8304	0.53276	T	0.215	0.57626	T	10	0.026437521	0.00810	T	0.040751	0.59547	D	0.165	0.42395	.	.	0.626000124322	0.62295	0.5878690323945133	0.58716	0.402954233708	0.41245	0.2135104388	0.00969	T	0.185368	0.53832	T	-0.409811	0.01993	T	-0.367608	0.37169	T	0.0360937052369715	0.02997	T	0.863414	0.55914	D	0.31382996	0.54115	0.23268425	0.48437	0.31382996	0.54115	0.23268425	0.48436	-7.414	0.57003	T	.	.	0.115	0.23430	B	.;.	.;.	2.913475	0.38653	20.8	0.99774793208082246	0.86260	0.08689	0.14582	N	AEFBCI	0.190001	0.31724	N	-0.37730709519006	0.26280	1.433029	-0.585490439647299	0.19871	1.068095	0.740976060941773	0.23211	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.592323	0.36904	0	.	.	5.03	1.64	0.22949	-0.104000	0.10893	0.456000	0.18569	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.5556:0.4444:0.0:0.0	11.813	0.51467	316	0.87161	Nmi/IFP 35 domain, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.08333	1455.83	34	chr17	43013137	.	C	T	1455.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.125;DP=291;ExcessHet=0;FS=4.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.09;SOR=0.594	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1466,0,1522	5	0	1	0
chr17	44399835	44399835	G	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2008T:p.R670W,GPATCH8:NM_001304939:exon7:c.C2167T:p.R723W,GPATCH8:NM_001304942:exon7:c.C2008T:p.R670W,GPATCH8:NM_001002909:exon8:c.C2242T:p.R748W,GPATCH8:NM_001304941:exon9:c.C2008T:p.R670W,GPATCH8:NM_001304940:exon10:c.C2008T:p.R670W	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0164068121102	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.069e-05	3.23e-05	5	154602	rs770210247	1.368e-05	1.368e-05	1.225e-05	1.513e-05	1.709e-05	8.94e-06	7.26e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	0	1.159e-05	6.591e-06	6.57e-06	0	1.35e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	0.012	0.63918	D	1.0	0.90584	D	0.874	0.62049	P	0.000011	0.62929	D	0.062950	1	0.08975	N	1.59	0.40313	L	2.46	0.14907	T	.	.	.	0.213	0.23758	-1.1095	0.03113	T	0.043	0.18410	T	10	0.21068513	0.37471	T	0.016407	0.37653	T	.	.	0.234	0.16305	0.209943299407	0.20609	0.23969147870145646	0.23883	0.623617066207	0.56593	0.63408768177	0.57724	T	0.133418	0.46408	T	-0.23337	0.16206	T	-0.476142	0.24858	T	0.856830954551697	0.50764	D	0.914409	0.69449	D	0.14230692	0.32754	0.10286383	0.24665	0.14230692	0.32754	0.10286383	0.24665	-7.266	0.55953	T	.	.	0.198	0.42052	B	.	.	3.310529	0.45487	22.1	0.98473944521307155	0.41896	0.77959	0.38395	D	AEFBCI	0.297703	0.40721	N	0.218778252448068	0.52111	3.387279	0.185123410194699	0.49033	3.111349	0.113198404328728	0.16702	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	3.16	0.35406	1.463000	0.34887	5.849000	0.50320	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.235000	0.22869	0.0727:0.0:0.5066:0.4207	7.745	0.28032	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1175.83	40	chr17	44399835	.	G	A	1175.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.88;DP=348;ExcessHet=0;FS=2.583;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.423;SOR=0.978	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1186,0,1428	5	0	1	0
chr17	44759745	44759745	G	A	exonic	ADAM11	.	nonsynonymous SNV	ADAM11:NM_002390:exon2:c.G85A:p.G29R	.	408	1110	4	0	0	4	0.00179856	.	.	.	2379753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.0491880721029	.	0.000199681	0.0001	0	0	0	0	4.905e-05	0.0013	0.0010	0.0001229	19	154602	rs531659022	4.686e-05	6.909e-05	3.612e-05	5.845e-05	0.0012	3.685e-05	3.307e-05	0.0009	0.0008	0	0	0	0	0	0.0002	8.311e-06	0.0002	0.0012	3.281e-05	3.28e-05	1.284e-05	5.368e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.004	0.65419	D	0.005	0.72224	D	0.392	0.34646	B	0.106	0.31143	B	0.000525	0.43581	D	0.000000	1	0.81001	D	0	0.06538	N	4.31	0.02412	T	-0.51	0.15986	N	0.673	0.68082	-0.5980	0.64899	T	0.006	0.01907	T	10	0.1596052	0.29985	T	0.049188	0.63702	D	0.216	0.50959	0.54	0.65161	0.371344866733	0.36741	0.45736453302573615	0.45654	0.574880451545	0.53506	0.772888541222	0.77857	T	0.080025	0.36266	T	-0.399273	0.02341	T	-0.425565	0.30439	T	0.0535967454179689	0.06120	T	0.728327	0.34315	T	0.21395431	0.43788	0.28150257	0.54132	0.21395431	0.43788	0.28150257	0.54131	-4.083	0.25039	T	.	.	0.12	0.24767	B	.	.	3.505550	0.49069	22.7	0.6607662643066734	0.07954	0.79416	0.39348	D	AEFDBHCI	0.337306	0.43514	N	-0.38948392807271	0.25842	1.405895	-0.302795463519248	0.28008	1.558323	0.999999800275137	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.35	4.35	0.51454	2.541000	0.45394	5.568000	0.48935	0.575000	0.29119	0.576000	0.27554	1.000000	0.68203	0.278000	0.23967	0.0:0.0:1.0:0.0	12.343	0.54431	467	0.78285	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003817	0.08333	603.83	35	chr17	44759745	.	G	A	603.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.182;DP=194;ExcessHet=0;FS=1.307;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.775;SOR=0.465	GT:AD:DP:GQ:PL	0/1:13,26:39:99:614,0,255	5	0	1	0
chr17	45405857	45405857	A	G	exonic	ARHGAP27	.	nonsynonymous SNV	ARHGAP27:NM_001385385:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385386:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385387:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385388:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385389:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385390:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385391:exon2:c.T284C:p.V95A,ARHGAP27:NM_001385392:exon2:c.T284C:p.V95A,ARHGAP27:NM_001282290:exon5:c.T884C:p.V295A,ARHGAP27:NM_001385384:exon5:c.T884C:p.V295A	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0141595204304	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399330561	4.335e-06	4.104e-06	2.853e-06	5.857e-06	0.0005	1.56e-06	1.03e-06	0.0001	7.636e-05	0	0	0	0	0	0.0005	2.781e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.13699	T	1.0	0.13215	T	.	.	.	.	.	.	0.306209	0.03986	N	1.446160	1	0.19925	N	1.63	0.41750	L	3.54	0.43279	T	0.42	0.07299	N	0.063	0.03502	-1.0222	0.22998	T	0.042	0.18243	T	9	0.038904727	0.02341	T	0.01416	0.34088	T	0.041	0.10877	0.183	0.09131	0.202949470691	0.19918	0.4443498175461873	0.44352	.	.	.	.	.	0.003815	0.07757	T	-0.223458	0.17522	T	-0.558758	0.16493	T	0.200626283884048	0.20450	T	0.532847	0.22875	T	0.023885956	0.01167	0.027719004	0.00946	0.023885956	0.01167	0.027719004	0.00946	-2.617	0.06633	T	.	.	0.075	0.05711	B	.;.;.;.	.;.;.;.	1.518979	0.19502	14.30	0.6709542234353516	0.08253	0.04038	0.09478	N	AEFDBHI	0.068570	0.13532	N	-0.744246134999096	0.14791	0.739762	-0.670128001064713	0.17709	0.9428559	0.999998993406041	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.519653	0.09787	0	0.655142	0.61905	0	.	.	5.04	1.36	0.21139	0.148000	0.16042	4.542000	0.43768	0.740000	0.86194	0.000000	0.06391	1.000000	0.68203	0.706000	0.34326	0.6161:0.0:0.2016:0.1823	2.942	0.05477	385	0.83500	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1473.83	34	chr17	45405857	.	A	G	1473.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.595;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.546;SOR=0.746	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1484,0,1171	5	0	1	0
chr17	50375775	50375775	T	A	exonic	EME1	.	nonsynonymous SNV	EME1:NM_001166131:exon2:c.T567A:p.N189K,EME1:NM_152463:exon2:c.T567A:p.N189K	.	417	1083	22	0	0	22	0.0100548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0012	0.00259585	0.0024	0.0002	0.0008	0	0	0.0014	0.0044	0.0110	0.0021474	332	154602	rs150118812	0.0016	0.0016	0.0013	0.0020	0.0120	0.0016	0.0016	0.0114	0.0111	5.974e-05	0.0008	0.0014	2.519e-05	7.489e-05	0.0080	0.0010	0.0019	0.0120	0.0012	0.0012	0.0009	0.0015	0.0129	0.0010	0.0010	0.0103	0.0094	0.0003	0	0.0007	0.0012	0.0002	0	0.0103	0.0012	0.0019	0.0129	0.324	0.13392	T	0.195	0.28032	T	0.019	0.17989	B	0.011	0.15521	B	0.006543	0.31955	N	0.241878	1	0.08975	N	1.59	0.40313	L	2.95	0.09635	T	-1.41	0.34795	N	0.047	0.02964	-1.0182	0.24301	T	0.024	0.10374	T	10	0.0027058125	0.00042	T	.	.	.	0.023	0.04649	0.179	0.08626	0.43912465853	0.43530	0.07992941132986522	0.07927	0.0700650985823	0.07848	0.287010222673	0.08489	T	0.007827	0.07211	T	-0.664322	0.00059	T	-0.717634	0.04911	T	0.00915201793787544	0.00115	T	0.383062	0.09347	T	0.06320632	0.13284	0.0655125	0.13287	0.06320632	0.13284	0.0655125	0.13287	-2.843	0.08586	T	.	.	0.138	0.30264	B	.;.;.	.;.;.	1.567081	0.20069	14.57	0.82479443836745459	0.14213	0.15640	0.19010	N	AEFBI	0.199897	0.32666	N	-0.743084202312359	0.14822	0.7416366	-0.771456895211419	0.15195	0.7979896	0.997124829741262	0.35298	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.58	3.48	0.38946	0.860000	0.27527	-0.119000	0.11742	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.460000	0.28118	0.1398:0.0:0.243:0.6172	6.473	0.21218	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.012228	0.002924	0.000000	0.008621	0.021341	0.015152	0.08333	2250.83	45	chr17	50375775	.	T	A	2250.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.65;DP=414;ExcessHet=0;FS=1.07;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.818;SOR=0.595	GT:AD:DP:GQ:PL	0/1:123,92:215:99:2261,0,3104	5	0	1	0
chr17	50380907	50380907	C	T	exonic	EME1	.	stopgain	EME1:NM_001166131:exon9:c.C1720T:p.Q574X,EME1:NM_152463:exon9:c.C1681T:p.Q561X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs753020589	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004030	0.34196	N	0.233151	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.674	0.69562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.40185	0.90019	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	8.740342	0.97959	38	0.99448065024708698	0.65122	0.97912	0.78070	D	AEFDBHCI	0.180135	0.30744	N	0.904479014301403	0.91979	11.16663	0.726585418007053	0.84395	8.280572	0.999999223525419	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	6.16	5.14	0.70008	1.567000	0.36016	4.798000	0.44948	0.599000	0.40250	0.923000	0.32050	1.000000	0.68203	0.814000	0.38357	0.2236:0.5415:0.2349:0.0	9.084	0.35731	934	0.15400	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	2025.83	38	chr17	50380907	.	C	T	2025.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.217;DP=337;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.592;SOR=0.709	GT:AD:DP:GQ:PL	0/1:74,84:158:99:2036,0,1869	5	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	220.57	67	chr17	59737489	.	A	C	220.57	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.594;DP=346;ExcessHet=1.383;FS=296.711;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=0.115;SOR=8.189	GT:AD:DP:GQ:PL	0/1:48,18:66:99:108,0,718	1	0	3	2
chr17	61015775	61015775	A	G	exonic	BCAS3	.	nonsynonymous SNV	BCAS3:NM_001099432:exon16:c.A1511G:p.Y504C,BCAS3:NM_001320470:exon16:c.A1511G:p.Y504C,BCAS3:NM_001330413:exon16:c.A1511G:p.Y504C,BCAS3:NM_001330414:exon16:c.A1511G:p.Y504C,BCAS3:NM_001353146:exon16:c.A1511G:p.Y504C,BCAS3:NM_017679:exon16:c.A1511G:p.Y504C,BCAS3:NM_001353144:exon17:c.A1601G:p.Y534C,BCAS3:NM_001353145:exon17:c.A1601G:p.Y534C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0279022350648	.	.	1.657e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs752333817	8.893e-06	8.893e-06	8.168e-06	9.626e-06	2.988e-05	4.96e-06	3.82e-06	4.55e-06	3.32e-06	2.988e-05	0	0	0	0	0	8.993e-06	0	2.319e-05	2.631e-05	2.627e-05	2.571e-05	2.694e-05	4.412e-05	8.15e-06	5.15e-06	1.171e-05	6.25e-06	2.416e-05	0	0	0	0	0	0	4.412e-05	0	0	0.008	0.58626	D	0.017	0.60337	D	0.995	0.67487	D	0.847	0.60522	P	0.000006	0.62929	D	0.065742	0.999904	0.50806	D	0.895	0.22405	L	1.41	0.34452	T	-2.22	0.49846	N	0.859	0.88687	-0.9459	0.41665	T	0.132	0.44347	T	10	0.6426832	0.69148	D	0.027902	0.50651	D	0.210	0.50028	.	.	0.624357547178	0.62130	0.5836763583259523	0.58296	0.961066972073	0.73010	0.869707405567	0.92526	D	0.057333	0.43501	T	0.172021	0.71309	D	0.0248059	0.71942	D	0.753855347633362	0.43501	D	0.981102	0.93484	D	0.20967126	0.43242	0.26203167	0.51989	0.20967126	0.43242	0.26203167	0.51988	-3.871	0.27570	T	.	.	0.070	0.03625	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.588974	0.72566	25.8	0.9975380830314784	0.84460	0.96459	0.69244	D	AEFGBI	0.878507	0.80382	D	0.545489561976971	0.69808	5.409897	0.600303979536694	0.74962	6.227231	0.999996884983001	0.74766	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.59	5.59	0.84677	6.767000	0.74770	8.072000	0.76444	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.774	0.77964	379	0.83778	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1083.83	35	chr17	61015775	.	A	G	1083.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.074;SOR=0.69	GT:AD:DP:GQ:PL	0/1:62,44:106:99:1094,0,1562	5	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	42.79	48	chr17	61968034	.	C	G	42.79	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.909;DP=297;ExcessHet=0;FS=164.3;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.545;SOR=8.38	GT:AD:DP:GQ:PL	0/1:36,18:61:52:52,0,403	4	0	1	1
chr17	62688517	62688517	C	G	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon22:c.C3078G:p.S1026R	.	426	1081	15	0	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0125372173561	0.0003	0.00199681	0.0014	9.61e-05	8.637e-05	0	0.0008	0.0006	0.0044	0.0075	0.0012678	196	154602	rs141422219	0.0008	0.0008	0.0006	0.0010	0.0066	0.0008	0.0007	0.0062	0.0060	2.987e-05	0.0002	3.826e-05	2.519e-05	0.0005	0.0028	0.0004	0.0009	0.0066	0.0005	0.0005	0.0006	0.0005	0.0062	0.0004	0.0004	0.0045	0.0039	0.0002	0	0.0003	0	0	0.0007	0	0.0005	0	0.0062	0.079	0.33753	T	0.024	0.56640	D	0.119	0.26641	B	0.078	0.28627	B	0.000130	0.49741	D	0.192272	0.819916	0.81001	D	0.4	0.12274	N	2.33	0.16492	T	-0.26	0.11185	N	0.447	0.48504	-1.0031	0.29021	T	0.022	0.09147	T	10	0.011034459	0.00243	T	0.012537	0.31203	T	0.118	0.32913	0.778	0.90312	0.168254554758	0.16434	.	.	0.433256255044	0.43490	0.341824680567	0.16711	T	0.043083	0.26389	T	-0.482191	0.00718	T	-0.462103	0.26371	T	0.0249710851349195	0.01269	T	0.69993	0.30971	T	0.060875803	0.12541	0.084481135	0.19436	0.060875803	0.12541	0.084481135	0.19436	-3.255	0.13164	T	.	.	0.206	0.43200	B	.	.	2.492508	0.32161	18.96	0.98565137425745464	0.43025	0.58258	0.30594	D	AEFDGBI	0.080845	0.16351	N	-0.590178458352782	0.19242	1.00552	-0.466255868333516	0.23089	1.257398	0.0230154234031307	0.13476	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.49	1.15	0.19876	1.793000	0.38397	1.320000	0.25596	-0.326000	0.05813	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.1355:0.2929:0.2957:0.2759	1.180	0.01731	552	0.72024	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	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.012195	0.000000	0.08333	2424.83	35	chr17	62688517	.	C	G	2424.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.253;DP=409;ExcessHet=0;FS=0.487;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.187;SOR=0.741	GT:AD:DP:GQ:PL	0/1:126,100:226:99:2435,0,3331	5	0	1	0
chr17	74237346	74237346	G	A	exonic	TTYH2	.	nonsynonymous SNV	TTYH2:NM_001330453:exon4:c.G404A:p.R135Q,TTYH2:NM_032646:exon4:c.G467A:p.R156Q	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0107601053783	0.0007	0.000599042	0.0014	9.625e-05	0.0003	0	0.0002	0.0006	0.0033	0.0073	0.0011707	181	154602	rs146838126	0.0008	0.0008	0.0006	0.0011	0.0070	0.0008	0.0008	0.0066	0.0064	5.974e-05	0.0004	7.652e-05	0	1.873e-05	0.0047	0.0005	0.0010	0.0070	0.0005	0.0005	0.0004	0.0007	0.0054	0.0004	0.0004	0.0038	0.0032	0.0001	0	0.0004	0	0.0002	0	0.0034	0.0005	0.0005	0.0054	0.443	0.09182	T	0.165	0.33330	T	0.95	0.70673	P	0.595	0.64797	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.825	0.47900	L	2.79	0.11189	T	-0.63	0.18459	N	0.323	0.36884	-1.1804	0.00364	T	0.067	0.27502	T	10	0.015330344	0.00322	T	0.01076	0.27663	T	0.175	0.44197	.	.	0.18274738541	0.17906	0.5602875507672628	0.55955	0.175573129607	0.19762	0.39073485136	0.23773	T	0.038885	0.36818	T	-0.304911	0.08204	T	-0.206894	0.53992	T	0.0681554750203357	0.08390	T	0.943306	0.78595	D	0.21390936	0.43783	0.2031201	0.44373	0.21390936	0.43783	0.2031201	0.44372	-3.629	0.18277	T	.	.	0.091	0.15296	B	.;.	.;.	4.211319	0.63621	24.6	0.99942855451748114	0.99848	0.97006	0.72147	D	AEFDGI	0.746015	0.68852	D	0.580847877510304	0.71982	5.734214	0.61186407467257	0.75802	6.37513	0.999999999373119	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.616094	0.41390	0	0.620846	0.47308	0	.	.	5.52	5.52	0.82153	5.273000	0.65375	7.113000	0.57572	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.061	0.93075	738	0.53389	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.003788	0.08333	810.83	61	chr17	74237346	.	G	A	810.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.7;DP=315;ExcessHet=0;FS=1.791;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.58;SOR=0.516	GT:AD:DP:GQ:PL	0/1:49,34:83:99:821,0,1229	5	0	1	0
chr17	75626100	75626100	C	T	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon62:c.C8971T:p.R2991C	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.000798722	0.0008	0.0018	0	0	0.0023	0.0016	0	0.0001	0.0005239	81	154602	rs75081344	0.0026	0.0023	0.0028	0.0025	0.0038	0.0025	0.0025	0.0036	0.0035	0.0005	0.0004	0.0007	0	0.0035	0.0027	0.0038	0.0025	0.0003	0.0022	0.0022	0.0020	0.0023	0.0035	0.0020	0.0019	0.0032	0.0030	0.0009	0	0.0007	0.0003	0	0.0030	0.0102	0.0035	0.0033	0.0002	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.299	0.33796	-0.6758	0.61566	T	0.408	0.75706	T	8	0.004975587	0.00107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030608	0.21659	T	.	.	.	.	.	.	.	.	.	0.605339	0.22845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09675	B	.;.	.;.	1.540784	0.19760	14.42	0.73641456201959177	0.10402	0.00049	0.00384	N	ALL	.	.	.	-1.1626882262665	0.05574	0.2544628	-1.19380420959418	0.06012	0.2881587	0.999999978956456	0.74766	0.653496	0.48692	0	0.550933	0.16991	0	0.440796	0.06475	0	0.683535	0.66460	0	0.10771	0.23274	5.09	1.56	0.22423	0.165000	0.16380	0.873000	0.22330	-0.972000	0.01937	0.000000	0.06391	0.640000	0.25910	0.001000	0.02609	0.3921:0.1547:0.0:0.4532	3.709	0.07942	976	0.04745	FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1170.83	34	chr17	75626100	.	C	T	1170.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.765;DP=270;ExcessHet=0;FS=3.258;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-2.042;SOR=1.154	GT:AD:DP:GQ:PL	0/1:31,46:77:99:1181,0,739	5	0	1	0
chr17	75650701	75650701	-	G	exonic	RECQL5	.	frameshift insertion	RECQL5:NM_001003715:exon9:c.1246dupC:p.H416Pfs*11	.	423	1097	1	1	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.682e-05	0	0	0	0	1.622e-05	0	0.0001	1.94e-05	3	154602	rs771207358	1.71e-05	1.71e-05	1.361e-05	2.063e-05	0.0010	1.174e-05	9.92e-06	0.0005	0.0003	0	4.475e-05	3.827e-05	0	0	0.0010	7.195e-06	0	9.282e-05	2.626e-05	2.625e-05	3.854e-05	1.342e-05	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0	0.0102	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1667	3260.03	36	chr17	75650701	.	T	TG	3260.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.506;DP=387;ExcessHet=0.4139;FS=1.012;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.476;SOR=0.771	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1678,0,1983	4	0	2	0
chr17	75878277	75878277	G	C	exonic	TRIM47	.	nonsynonymous SNV	TRIM47:NM_033452:exon1:c.C272G:p.P91R	.	411	1098	12	1	0	14	0.00633484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	.	0.00698882	0.0556	0.5	.	.	.	0	.	0	0.0004398	68	154602	rs577782968	0.0012	0.0010	0.0012	0.0012	0.0171	0.0011	0.0011	0.0157	0.0151	0.0171	0.0034	0.0110	0	8.509e-05	0.0162	0.0005	0.0038	0.0011	0.0057	0.0057	0.0063	0.0051	0.0167	0.0054	0.0053	0.0157	0.0153	0.0167	0.0011	0.0037	0.0127	0	9.526e-05	0.0342	0.0008	0.0038	0.0004	0.136	0.26085	T	0.034	0.52727	D	0.93	0.51791	P	0.578	0.50118	P	0.050333	0.23081	U	0.219521	1	0.08975	N	1.74	0.45129	L	0.93	0.44065	T	0.48	0.03041	N	0.258	0.29197	-0.8804	0.49730	T	0.092	0.35092	T	10	0.0017648935	0.00023	T	.	.	.	0.054	0.15330	.	.	0.503063991398	0.49945	.	.	2.12493175433	0.95057	0.833705663681	0.87130	D	0.022488	0.17329	T	-0.524503	0.00414	T	-0.511908	0.21119	T	0.0423051338128606	0.04110	T	0.322368	0.06563	T	0.049451187	0.08783	0.1390573	0.33192	0.049451187	0.08782	0.1390573	0.33191	-6.204	0.47955	T	.	.	0.089	0.12228	B	.	.	2.120363	0.26987	17.31	0.98909838452120091	0.48345	0.77563	0.38150	D	AEFDBHCI	0.246767	0.36746	N	-0.066640446153496	0.38862	2.282715	-0.170089722099639	0.32642	1.859201	0.99999962251974	0.74766	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.372554	0.06265	0	.	.	2.37	2.37	0.28337	1.262000	0.32594	0.658000	0.20477	0.484000	0.22197	0.009000	0.18154	0.000000	0.08366	0.047000	0.14932	0.0:0.0:1.0:0.0	8.343	0.31418	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007991	0.007042	0.000000	0.028037	0.000000	0.000000	0.000000	0.000000	0.08333	97.9	35	chr17	75878277	.	G	C	97.9	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.019;DP=108;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.063;SOR=0.804	GT:AD:DP:GQ:PL	0/1:9,5:14:99:108,0,235	5	0	1	0
chr17	75921991	75921991	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon14:c.G1480A:p.G494R	.	404	1104	13	1	0	15	0.00674764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0008	0.00159744	0.0030	0.0040	0.0073	0	0	0.0040	0.0126	0.0018	0.0006856	106	154602	rs61744136	0.0011	0.0011	0.0010	0.0012	0.0260	0.0011	0.0010	0.0226	0.0213	0.0031	0.0028	0.0115	2.798e-05	6.08e-05	0.0260	0.0006	0.0028	0.0016	0.0015	0.0015	0.0017	0.0013	0.0022	0.0013	0.0013	0.0016	0.0015	0.0019	0.0011	0.0022	0.0124	0	9.418e-05	0.0340	0.0008	0.0014	0.0006	.	.	.	0.367	0.16668	T	0.127	0.26966	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.73	0.44655	L	2.29	0.17113	T	.	.	.	0.075	0.04913	-1.0274	0.21299	T	0.038	0.16203	T	9	0.005048305	0.00109	T	.	.	.	.	.	0.225	0.14960	0.151104730317	0.14643	0.1328563028633864	0.13209	.	.	0.311471223831	0.12129	T	0.024036	0.18239	T	-0.590542	0.00166	T	-0.625352	0.10769	T	0.00954904533907244	0.00124	T	0.716128	0.32863	T	0.042809766	0.06560	0.08133094	0.18473	0.042809766	0.06559	0.08133094	0.18472	-4.674	0.33149	T	.	.	0.109	0.24666	B	.;.;.	.;.;.	1.000004	0.13782	10.33	0.92157115828463076	0.21518	0.07827	0.13821	N	AEFBI	0.035051	0.04446	N	-0.634884174838293	0.17904	0.9252401	-0.656243889262236	0.18059	0.9630712	0.201818496286435	0.18132	0.646311	0.45356	0	0.670034	0.63936	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.6	4.4	0.52402	0.214000	0.17331	2.441000	0.32772	0.599000	0.40250	0.000000	0.06391	0.026000	0.21063	0.008000	0.08271	0.0:0.8541:0.0:0.1459	8.111	0.30072	823	0.40596	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013189	0.005051	0.019366	0.031646	0.000000	0.000000	0.010204	0.004808	0.08333	700.83	36	chr17	75921991	.	C	T	700.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.693;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=0.149;SOR=0.793	GT:AD:DP:GQ:PL	0/1:50,33:83:99:711,0,1301	5	0	1	0
chr17	75978994	75978994	G	A	exonic	ACOX1	.	nonsynonymous SNV	ACOX1:NM_004035:exon1:c.C80T:p.P27L,ACOX1:NM_007292:exon1:c.C80T:p.P27L	Peroxisomal acyl-CoA oxidase deficiency, Autosomal recessive	0	1502	18	2	0	22	0.00727032	.	.	.	237439	not_provided|Acyl-CoA_oxidase_deficiency	MedGen:C3661900|MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.114	.	0.0072	0.00559105	0.0033	0.0183	0.0051	0	0.0002	0.0018	0.0077	0.0014	0.0030918	478	154602	rs145082938	0.0016	0.0016	0.0016	0.0016	0.0285	0.0016	0.0015	0.0249	0.0235	0.0183	0.0042	0.0114	2.519e-05	7.907e-05	0.0285	0.0006	0.0040	0.0016	0.0063	0.0063	0.0066	0.0060	0.0186	0.0060	0.0059	0.0175	0.0171	0.0186	0.0011	0.0041	0.0127	0	9.409e-05	0.0340	0.0009	0.0057	0.0006	0.09	0.31987	T	0.202	0.28300	T	0.0	0.07471	B	0.002	0.06944	B	0.002795	0.35935	N	0.296932	0.999699	0.81001	D	1.95	0.52479	M	-0.13	0.64818	T	-3.52	0.68412	D	0.168	0.19459	-0.8747	0.50173	T	0.113	0.40377	T	10	0.00561586	0.00125	T	.	.	.	0.114	0.32008	.	.	0.697566865013	0.69495	0.6616722337909623	0.66104	0.659582380596	0.58814	0.479379892349	0.35971	T	0.467308	0.80169	T	-0.463065	0.00941	T	-0.423657	0.30658	T	0.0533136793918528	0.06073	T	0.90211	0.65873	D	0.19369115	0.41090	0.26735798	0.52592	0.20065153	0.42047	0.28335834	0.54328	-3.908	0.28008	T	.	.	0.09	0.17488	B	.;.;.	.;.;.	3.891890	0.56638	23.8	0.99720487541705172	0.81984	0.93706	0.58959	D	ALL	0.542320	0.55811	D	0.0254650949938461	0.43015	2.602847	0.156769912805385	0.47500	2.979432	0.999999999857169	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.74	3.75	0.42236	4.244000	0.58522	6.122000	0.53799	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.151:0.0:0.849:0.0	10.865	0.46054	726	0.54788	.;Acyl-coenzyme A oxidase, N-terminal;Acyl-coenzyme A oxidase, 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	0.019153	0.020202	0.020380	0.052632	0.000000	0.025862	0.006135	0.003788	0.08333	1004.83	37	chr17	75978994	.	G	A	1004.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.518;DP=259;ExcessHet=0;FS=0.859;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.223;SOR=0.889	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1015,0,935	5	0	1	0
chr17	81461259	81461259	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon26:c.G6596A:p.R2199Q,BAHCC1:NM_001291324:exon27:c.G6689A:p.R2230Q	.	357	1164	1	0	0	1	0.000429369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.148827826918	.	0.000998403	0.0021	0	0.0052	0	0	0.0003	0.0072	0.0077	0.000705	109	154602	rs369588790	0.0007	0.0007	0.0005	0.0009	0.0050	0.0006	0.0006	0.0045	0.0043	6.375e-05	0.0008	0	3.051e-05	0	0.0005	0.0001	0.0007	0.0050	0.0003	0.0003	0.0002	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	2.406e-05	0	0.0003	0.0006	0.0002	0	0	5.881e-05	0	0.0068	0.044	0.41096	D	0.341	0.18178	T	0.998	0.73220	D	0.852	0.60758	P	0.003643	0.34662	N	0.111856	0.600294	0.30946	N	.	.	.	2.67	0.12473	T	-1.79	0.42191	N	0.4	0.45992	-1.0190	0.24041	T	0.082	0.32207	T	10	0.0058084726	0.00130	T	0.148828	0.83071	D	0.085	0.24743	0.243	0.17677	0.0806252709748	0.07271	0.29755636023076176	0.29668	0.490117653545	0.47753	0.720437049866	0.70110	T	0.063578	0.32212	T	-0.47298	0.00815	T	-0.451639	0.27516	T	0.0520052614190075	0.05848	T	0.878612	0.59406	D	0.12198696	0.28674	0.15273169	0.35922	0.12198696	0.28674	0.15273169	0.35921	-6.159	0.47590	T	.	.	0.133	0.28664	B	.;.	.;.	4.044608	0.59904	24.2	0.99918589436188165	0.98586	0.85769	0.44939	D	AEFGBHCIJ	0.521916	0.54615	D	0.391278033739046	0.60949	4.289709	0.348043698379776	0.58389	4.009204	0.999999999959189	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.35	5.35	0.76297	1.779000	0.38254	11.642000	0.93799	0.672000	0.70159	0.994000	0.38300	1.000000	0.68203	0.395000	0.26670	0.0:0.0:1.0:0.0	17.806	0.88511	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001523	0.005208	0.001374	0.000000	0.000000	0.000000	0.000000	0.003846	0.08333	436.83	36	chr17	81461259	.	G	A	436.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=212;ExcessHet=0;FS=7.791;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.235;SOR=1.336	GT:AD:DP:GQ:PL	0/1:18,15:33:99:447,0,490	5	0	1	0
chr17	82025504	82025504	G	A	exonic	LRRC45	.	nonsynonymous SNV	LRRC45:NM_144999:exon5:c.G658A:p.V220M	.	408	1111	3	0	0	3	0.00134831	.	.	.	3511923	LRRC45-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.168	0.0547945598441	.	0.000998403	0.0010	0	8.703e-05	0	0	0	0	0.0086	0.0007697	119	154602	rs557866291	0.0004	0.0004	0.0002	0.0005	0.0060	0.0004	0.0003	0.0056	0.0054	0	2.28e-05	3.935e-05	5.05e-05	7.715e-05	0	3.618e-06	0.0005	0.0060	0.0002	0.0002	0.0002	0.0003	0.0070	0.0002	0.0002	0.0052	0.0045	7.215e-05	0	0	0	0	0	0	0	0	0.0070	0.006	0.61437	D	0.02	0.58613	D	0.994	0.66517	D	0.754	0.56161	P	0.009330	0.30410	N	0.277471	0.980043	0.39625	D	2.38	0.68558	M	0.6	0.53731	T	-1.59	0.38345	N	0.641	0.65330	-0.9466	0.41549	T	0.150	0.47663	T	9	0.011545956	0.00252	T	0.054795	0.65991	D	0.168	0.42943	0.487	0.57098	0.313518423057	0.30959	0.39159803848690156	0.39074	0.641525643221	0.57744	0.451737105846	0.32181	T	0.033681	0.23013	T	-0.338582	0.05488	T	-0.256098	0.49213	T	0.0552821057941027	0.06405	T	0.940506	0.77585	D	0.0873989	0.20350	0.1373582	0.32835	0.0873989	0.20349	0.1373582	0.32834	-6.956	0.53712	T	.	.	0.104	0.18705	B	.	.	4.474445	0.69757	25.4	0.99843712796750306	0.92403	0.87373	0.46892	D	AEFGBI	0.263123	0.38073	N	0.254652232196385	0.53870	3.554114	0.23320182105511	0.51698	3.350205	0.999967326575799	0.48965	0.626454	0.40138	0	0.80507	0.99744	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.4	3.34	0.37357	3.033000	0.49433	7.286000	0.58039	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.361000	0.25909	0.0894:0.1681:0.7425:0.0	7.576	0.27104	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.001359	0.002959	0.000000	0.000000	0.003049	0.000000	0.08333	326.83	33	chr17	82025504	.	G	A	326.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.231;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.437;SOR=0.719	GT:AD:DP:GQ:PL	0/1:19,14:33:99:337,0,498	5	0	1	0
chr18	669146	669146	A	G	exonic	TYMS	.	nonsynonymous SNV	TYMS:NM_001354868:exon2:c.A280G:p.I94V,TYMS:NM_001071:exon4:c.A529G:p.I177V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0150012600929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.487	0.36886	P	0.573	0.49966	P	0.000000	0.84330	D	0.090944	1	0.81001	D	3.18	0.88827	M	.	.	.	-0.67	0.20576	N	0.435	0.47395	0.084	0.83871	D	0.460	0.79061	T	9	0.5036172	0.61691	D	0.015001	0.35474	T	0.609	0.84666	0.642	0.77903	0.340919117937	0.33698	0.57782318669284	0.57711	0.876382934453	0.69585	0.559849262238	0.47247	T	0.352247	0.71971	T	0.0461689	0.57847	T	-0.171458	0.57309	T	0.938693404197693	0.60952	D	0.974802	0.92791	D	0.5951796	0.72431	0.33740193	0.59531	0.5951796	0.72432	0.33740193	0.59530	-10.087	0.74431	D	.	.	0.265	0.52977	B	.;.	.;.	3.839067	0.55545	23.6	0.99873322863001357	0.95076	0.97660	0.76227	D	AEFDBCI	0.737997	0.68302	D	0.471780638985753	0.65449	4.823928	0.424275414619141	0.63080	4.53498	0.999999747572527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.57	3.02	0.33970	5.743000	0.68292	7.836000	0.70319	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7349:0.2651:0.0:0.0	12.411	0.54800	840	0.37365	Thymidylate synthase/dCMP hydroxymethylase domain|Thymidylate synthase/dCMP hydroxymethylase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	88.12	43	chr18	669146	.	A	G	88.12	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.204;DP=390;ExcessHet=0.4139;FS=154.922;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=-0.219;SOR=7.427	GT:AD:DP:GQ:PL	0/1:72,13:85:4:4,0,1486	3	0	2	1
chr18	13116385	13116385	A	G	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon43:c.A7298G:p.D2433G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00941870165092	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459419786	4.11e-06	4.104e-06	1.363e-06	6.886e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.02	0.58613	D	.	.	.	.	.	.	0.002763	0.35968	N	0.293295	0.999965	0.18878	N	.	.	.	3.31	0.06291	T	-2.83	0.59710	D	0.494	0.52740	-1.0503	0.14313	T	0.023	0.09878	T	10	0.3818214	0.54250	T	0.009419	0.24693	T	0.137	0.36984	.	.	0.449474494731	0.44571	0.45428174925077996	0.45346	0.367735961394	0.38336	0.341391682625	0.16647	T	0.082873	0.36927	T	-0.0917946	0.37780	T	-0.369633	0.36932	T	0.951705873012543	0.63622	D	0.70183	0.31167	T	0.13916868	0.32158	0.1021993	0.24488	0.13916868	0.32157	0.1021993	0.24488	-3.739	0.19895	T	.	.	0.102	0.17869	B	.;.	.;.	1.727586	0.21986	15.43	0.99178137229410157	0.54585	0.85216	0.44329	D	AEFBI	0.480731	0.52233	N	-0.0229241201889724	0.40818	2.430703	-0.0379634348559805	0.38015	2.233791	0.998999497677086	0.38161	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	3.261000	0.51233	5.778000	0.49786	-0.181000	0.10308	0.978000	0.35038	1.000000	0.68203	0.004000	0.06068	1.0:0.0:0.0:0.0	14.280	0.65753	512	0.75040	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	987.06	24	chr18	13116385	.	A	G	987.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.63;DP=211;ExcessHet=0.4139;FS=4.204;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.049;SOR=1.196	GT:AD:DP:GQ:PL	0/1:30,14:44:99:315,0,751	4	0	2	0
chr18	13746298	13746298	T	A	exonic	RNMT	.	nonsynonymous SNV	RNMT:NM_001378132:exon8:c.T684A:p.N228K,RNMT:NM_001378134:exon8:c.T1218A:p.N406K,RNMT:NM_001378135:exon8:c.T1218A:p.N406K,RNMT:NM_001308263:exon9:c.T1218A:p.N406K,RNMT:NM_003799:exon9:c.T1218A:p.N406K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00284342970162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.05899	T	0.916	0.02917	T	0.014	0.16867	B	0.02	0.19048	B	0.013786	0.28730	N	0.428927	0.66627	0.33099	D	-0.625	0.02162	N	.	.	.	-0.94	0.25118	N	0.291	0.33140	-0.9754	0.36037	T	0.024	0.10239	T	9	0.0581685	0.06798	T	0.002843	0.05956	T	0.094	0.27141	0.415	0.45380	0.261217442401	0.25729	0.33841462012339785	0.33754	0.285941018328	0.31003	0.441241592169	0.30746	T	0.024338	0.18409	T	-0.244371	0.14796	T	-0.588798	0.13769	T	0.142745152115822	0.16509	T	0.80282	0.44919	T	0.17397603	0.38175	0.11765705	0.28401	0.17397603	0.38175	0.11765705	0.28401	-7.303	0.56217	T	.	.	0.120	0.36889	B	.;.;.;.;.	.;.;.;.;.	1.700623	0.21659	15.30	0.83049473681918529	0.14515	0.79351	0.39304	D	AEFGBI	0.092879	0.18799	N	-0.796120001259072	0.13411	0.6604495	-0.56706654028791	0.20354	1.096247	0.836610804700243	0.24790	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	0.914	0.18488	0.504000	0.22335	-0.065000	0.12373	-0.165000	0.11486	0.998000	0.41325	0.002000	0.18203	0.997000	0.79791	0.0:0.2066:0.2046:0.5888	6.238	0.19985	707	0.57054	mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain;mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain;.;mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain;mRNA (guanine-N(7))-methyltransferase domain|mRNA (guanine-N(7))-methyltransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1219.06	33	chr18	13746298	.	T	A	1219.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.05;DP=252;ExcessHet=0.4139;FS=0.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=2.12;SOR=0.62	GT:AD:DP:GQ:PL	0/1:41,32:73:99:762,0,976	4	0	2	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	.	.	.	.	.	.	.	.	0.25	589.03	33	chr18	14513679	.	T	G	589.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.66;DP=539;ExcessHet=1.383;FS=10.147;MLEAC=3;MLEAF=0.25;MQ=50.73;MQRankSum=-7.677;QD=1.38;ReadPosRankSum=-2.477;SOR=1.638	GT:AD:DP:GQ:PL	0/1:150,20:170:99:116,0,3776	3	0	3	0
chr18	36199814	36199814	G	A	exonic	MOCOS	.	nonsynonymous SNV	MOCOS:NM_017947:exon4:c.G431A:p.R144H	Xanthinuria, type II, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	1127226	Xanthinuria_type_II	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.263	0.0185619323915	0.0018	0.000599042	0.0004	0.0045	8.645e-05	0	0	1.504e-05	0	0	0.0003687	57	154602	rs141483411	0.0001	0.0001	0.0001	9.763e-05	0.0036	9.266e-05	8.731e-05	0.0031	0.0029	0.0036	0.0002	0	2.519e-05	1.873e-05	0	4.496e-06	0.0003	3.478e-05	0.0013	0.0013	0.0014	0.0013	0.0046	0.0012	0.0011	0.0040	0.0038	0.0046	0	0.0005	0	0.0002	9.416e-05	0.0068	0	0	0	0.8	0.03117	T	0.731	0.05146	T	0.003	0.11197	B	0.003	0.08700	B	0.175184	0.03141	N	1.590360	1	0.08975	N	0.995	0.25082	L	-2.15	0.86481	D	0.23	0.04613	N	0.049	0.02088	-0.6968	0.60591	T	0.405	0.75529	T	10	0.0100905895	0.00226	T	0.018562	0.40664	T	0.263	0.57612	.	.	0.601307451256	0.59812	0.29384607172841604	0.29297	0.094433556557	0.10659	0.207037031651	0.00692	T	0.051876	0.29003	T	-0.505681	0.00531	T	-0.49751	0.22607	T	0.0100304632258765	0.00134	T	0.324768	0.06643	T	0.024188593	0.01226	0.026310228	0.00713	0.024188593	0.01226	0.026310228	0.00713	-1.87	0.02726	T	0.11721766159409595	0.10682	0.060	0.01011	B	.	.	-0.536132	0.01755	0.132	0.84333854483777182	0.15231	0.11406	0.16613	N	AEFBCI	0.085240	0.17279	N	-1.69939941649127	0.00844	0.03650588	-1.82179528065405	0.00692	0.03080909	0.999999999556065	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.54	-10.1	0.00330	-0.104000	0.10893	-0.755000	0.07560	-1.909000	0.00517	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.3194:0.0858:0.5088:0.086	6.093	0.19228	863	0.32847	Aminotransferase class V domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	3412.06	35	chr18	36199814	.	G	A	3412.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.08;DP=475;ExcessHet=0.4139;FS=2.701;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.866;SOR=0.869	GT:AD:DP:GQ:PL	0/1:73,44:117:99:1146,0,1999	4	0	2	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	137.05	33	chr18	37067197	.	G	A	137.05	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-6.333;DP=603;ExcessHet=0.4139;FS=151.123;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.672;SOR=8.688	GT:AD:DP:GQ:PL	0/1:199,46:245:99:134,0,4792	4	0	2	0
chr18	50920751	50920751	C	T	exonic	ME2	.	nonsynonymous SNV	ME2:NM_001168335:exon9:c.C935T:p.A312V,ME2:NM_002396:exon9:c.C935T:p.A312V	.	.	.	.	.	.	.	.	.	.	.	3453510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.700	0.120092993348	.	.	8.318e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs767927111	1.378e-06	1.368e-06	1.371e-06	1.385e-06	2.358e-05	2.3e-07	9e-08	.	.	0	2.358e-05	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	0.25	0.59449	T	-3.95	0.73477	D	0.949	0.95725	0.034	0.82928	D	0.474	0.79795	T	10	0.97561234	0.97317	D	0.120093	0.80055	D	0.700	0.89192	0.938	0.99130	0.869993256652	0.86873	0.8974001471242238	0.89711	1.02579315666	0.75269	0.717810511589	0.69727	T	0.171092	0.51908	T	0.299969	0.82965	D	0.282839	0.87274	D	0.966074645519257	0.67467	D	0.988501	0.97149	D	0.9611285	0.97394	0.92857295	0.96997	0.9611285	0.97394	0.92857295	0.96997	-9.296	0.71026	D	.	.	0.852	0.84397	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.293540	0.88880	29.8	0.99912180625435265	0.98095	0.98672	0.85404	D	AEFBI	0.901821	0.84896	D	0.95673578566189	0.94250	12.613	0.91428009280917	0.96164	14.37591	0.999999999932028	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	7.898000	0.85965	7.632000	0.62779	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.685	0.91519	632	0.64850	Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;.;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding;Malic enzyme, NAD-binding|Malic enzyme, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	448.83	39	chr18	50920751	.	C	T	448.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.248;DP=235;ExcessHet=0;FS=2.354;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-3.175;SOR=0.881	GT:AD:DP:GQ:PL	0/1:35,21:56:99:459,0,869	5	0	1	0
chr18	58504006	58504006	C	A	exonic	ALPK2	.	nonsynonymous SNV	ALPK2:NM_052947:exon11:c.G6172T:p.G2058C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0908518160745	.	.	6.591e-05	9.615e-05	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs753647182	4.788e-05	4.788e-05	4.764e-05	4.813e-05	5.486e-05	3.86e-05	3.54e-05	4.351e-05	3.944e-05	2.987e-05	0	0	0	1.872e-05	0	5.486e-05	0.0001	0	1.314e-05	1.313e-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	0.001	0.78490	D	0.003	0.76473	D	0.986	0.61523	D	0.943	0.67921	D	0.000123	0.49741	D	0.080490	1	0.81001	D	2.175	0.60977	M	3.15	0.07820	T	-5.64	0.86914	D	0.824	0.81957	-1.2103	0.00088	T	0.058	0.24502	T	10	0.78826225	0.78435	D	0.090852	0.75595	D	0.445	0.74727	0.642	0.77903	0.469742815239	0.46599	0.8231535046470219	0.82272	0.514025229606	0.49365	0.802179515362	0.82295	T	0.038957	0.25023	T	0.0460064	0.57828	T	0.0142124	0.71255	D	0.964535534381866	0.66987	D	0.868113	0.56980	D	0.8145125	0.84852	0.78544784	0.87363	0.8145125	0.84853	0.78544784	0.87364	-10.58	0.77305	D	.	.	0.967	0.88983	P	.	.	4.955314	0.81888	27.7	0.99507938654798578	0.68440	0.98043	0.79119	D	AEFBI	0.974558	0.99566	D	0.758016723698828	0.83426	8.014441	0.776590226363211	0.88121	9.465541	0.999999999998139	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	7.510000	0.80594	7.645000	0.63394	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.352	0.94378	965	0.07246	MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	948.83	33	chr18	58504006	.	C	A	948.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.39;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.902;SOR=0.651	GT:AD:DP:GQ:PL	0/1:53,37:90:99:959,0,1368	5	0	1	0
chr18	58538141	58538141	-	G	exonic	ALPK2	.	frameshift insertion	ALPK2:NM_052947:exon5:c.2045dupC:p.F683Ifs*38	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.000599042	0.0018	0.0005	0.0007	0	0.0005	0.0030	0.0022	0.0005	0.0003074	8	26028	rs561573547	0.0028	0.0028	0.0029	0.0027	0.0032	0.0027	0.0027	0.0031	0.0031	0.0004	0.0013	0.0061	2.52e-05	0.0009	0.0016	0.0032	0.0029	0.0007	0.0020	0.0020	0.0021	0.0020	0.0033	0.0019	0.0018	0.0026	0.0025	0.0006	0	0.0033	0.0058	0	0.0008	0.0068	0.0029	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.000000	0.002924	0.050000	0.008621	0.000000	0.003788	0.08333	1691.79	57	chr18	58538141	.	T	TG	1691.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.3;DP=361;ExcessHet=0;FS=0.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-1.81;SOR=0.832	GT:AD:DP:GQ:PL	0/1:48,63:111:99:1702,0,1234	5	0	1	0
chr18	65824683	65824683	C	T	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833T:p.A278V,CDH7:NM_001362438:exon6:c.C833T:p.A278V,CDH7:NM_004361:exon6:c.C833T:p.A278V,CDH7:NM_033646:exon6:c.C833T:p.A278V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0119740858645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213232655	6.859e-07	1.368e-06	0	1.379e-06	2.525e-05	0	0	.	.	0	0	0	2.525e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	0.053	0.24253	B	0.051	0.26930	B	0.072800	0.21387	N	0.451193	0.986877	0.40500	D	0.805	0.20218	L	1.15	0.38236	T	-2.81	0.59389	D	0.454	0.50146	-1.0412	0.16951	T	0.080	0.31556	T	10	0.21349788	0.37843	T	0.011974	0.30115	T	0.070	0.20419	0.699	0.83592	0.261638197198	0.25763	0.4085079323775005	0.40766	0.370824421453	0.38592	0.661295115948	0.61595	T	0.228038	0.59348	T	-0.238498	0.15540	T	-0.411234	0.32083	T	0.696423768997192	0.40549	D	0.949105	0.80429	D	0.53637636	0.69193	0.71984893	0.83460	0.53637636	0.69194	0.71984893	0.83461	-5.187	0.38809	T	.	.	0.152	0.34906	B	.;.;.	.;.;.	3.691616	0.52601	23.3	0.99730261738919113	0.82690	0.78981	0.39054	D	AEFDGBI	0.170287	0.29718	N	-0.176406446080971	0.34119	1.94363	-0.0550690402966551	0.37272	2.180049	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	229.06	59	chr18	65824683	.	C	T	229.06	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.603;DP=273;ExcessHet=0.6695;FS=191.009;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=-0.122;SOR=8.015	GT:AD:DP:GQ:PL	0/1:37,26:63:99:135,0,391	2	0	1	3
chr18	74354225	74354225	C	A	exonic	C18orf63	.	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.C1958A:p.S653Y	.	430	1088	2	0	2	4	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0136637401253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.232e-07	6.84e-07	1.428e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.725e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	0.924	0.51285	P	0.512	0.47969	P	0.183814	0.17031	N	0.497784	1	0.08975	N	2.34	0.67151	M	0.87	0.46412	T	.	.	.	0.107	0.09207	-0.9338	0.43575	T	0.126	0.43132	T	9	0.10772708	0.20022	T	0.013664	0.33231	T	.	.	0.113	0.02240	0.278968121808	0.27521	0.1621428313516769	0.16134	.	.	.	.	.	0.017042	0.13973	T	-0.147164	0.28757	T	-0.449168	0.27790	T	0.558772734597939	0.34809	D	0.561544	0.19673	T	0.14806537	0.33820	0.21886243	0.46604	0.14806537	0.33819	0.21886243	0.46603	-5.207	0.39013	T	.	.	0.105	0.19316	B	.	.	2.386290	0.30640	18.50	0.53383295509664475	0.04929	0.17680	0.19941	N	AEFBI	0.045484	0.07443	N	-0.0281024362642582	0.40586	2.412767	-0.156787595150334	0.33149	1.893161	0.152650626329827	0.17466	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.95	4.09	0.47038	0.419000	0.20967	1.806000	0.28922	0.596000	0.33519	0.000000	0.06391	0.003000	0.18671	0.030000	0.13115	0.1563:0.7641:0.0:0.0796	8.287	0.31097	988	0.01987	Domain of unknown function DUF4708	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1213.83	33	chr18	74354225	.	C	A	1213.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.939;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.264;SOR=0.651	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1224,0,933	5	0	1	0
chr18	74634091	74634091	T	G	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001146189:exon1:c.T3072G:p.F1024L,ZNF407:NM_001146190:exon1:c.T3072G:p.F1024L,ZNF407:NM_001384475:exon2:c.T3072G:p.F1024L,ZNF407:NM_017757:exon2:c.T3072G:p.F1024L	.	426	1085	11	0	0	11	0.00504356	.	.	.	208484	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.0610481038886	8.1e-05	.	0.0002	0.0001	0.0004	0	0	0.0003	0	0.0003	0.0002135	33	154602	rs199675086	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0034	0.0030	2.987e-05	0.0002	0	0	1.873e-05	0.0049	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0006	9.139e-05	7.696e-05	0.0002	0.0001	2.404e-05	0	6.532e-05	0	0	0	0.0034	0.0002	0	0.0006	0.001	0.78490	D	0.528	0.39954	T	1.0	0.90584	D	0.998	0.88582	D	0.001496	0.38855	N	0.203180	1	0.08975	N	2.455	0.71248	M	2.52	0.14160	T	-1.85	0.53258	N	0.466	0.62103	-1.0611	0.11483	T	0.051	0.21883	T	10	0.18171942	0.33417	T	0.061048	0.68202	D	0.162	0.41843	0.447	0.50629	0.379214838424	0.37538	0.3061656667013605	0.30529	0.50281439346	0.48633	0.72247338295	0.70406	T	0.545374	0.84508	D	-0.308967	0.07839	T	-0.389438	0.34618	T	0.0965575097583031	0.11974	T	0.813219	0.48908	T	0.23898204	0.46782	0.28000823	0.53973	0.23898204	0.46782	0.28000823	0.53972	-10.169	0.75395	D	.	.	0.999	0.97850	P	.;.;.;.	.;.;.;.	2.657274	0.34614	19.67	0.98290965241646433	0.39945	0.61656	0.31549	D	AEFDGBCI	0.174311	0.30144	N	-0.364233240025595	0.26751	1.462465	-0.508390567796062	0.21925	1.188392	0.999999328378259	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.03	-1.2	0.09062	0.570000	0.23357	-2.019000	0.04336	-0.133000	0.13014	0.848000	0.30412	0.000000	0.08366	0.904000	0.43992	0.0:0.4969:0.0:0.5031	12.469	0.55116	730	0.54327	.;.;.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.008621	0.003049	0.000000	0.08333	3853.83	37	chr18	74634091	.	T	G	3853.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.64;DP=887;ExcessHet=0;FS=0.418;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.375;SOR=0.734	GT:AD:DP:GQ:PL	0/1:162,140:302:99:3864,0,4453	5	0	1	0
chr18	78994584	78994584	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G2593A:p.V865M	.	418	1083	21	0	0	21	0.00960219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0057	0.00499201	0.0063	0.0017	0.0032	0.0001	0.0026	0.0078	0.0024	0.0102	0.0060478	935	154602	rs139777889	0.0077	0.0077	0.0076	0.0077	0.0132	0.0075	0.0075	0.0108	0.0099	0.0011	0.0035	0.0013	2.521e-05	0.0024	0.0132	0.0085	0.0080	0.0091	0.0055	0.0055	0.0055	0.0054	0.0098	0.0051	0.0050	0.0078	0.0076	0.0017	0	0.0064	0.0012	0.0002	0.0027	0	0.0084	0.0048	0.0098	0.084	0.32929	T	0.311	0.24193	T	0.089	0.25085	B	0.007	0.12992	B	0.392044	0.13242	N	0.640689	1	0.08975	N	-0.2	0.04182	N	3.2	0.09915	T	-0.98	0.25986	N	0.071	0.04426	-0.9937	0.31643	T	0.008	0.02926	T	10	0.0037801266	0.00070	T	.	.	.	0.040	0.10527	.	.	0.197625483188	0.19356	0.1434755882111462	0.14270	0.402279318707	0.41185	0.217062205076	0.01147	T	0.013241	0.32070	T	-0.74162	0.00020	T	-0.830243	0.01258	T	0.00211964490454904	0.00022	T	0.756924	0.41972	T	0.03708445	0.04688	0.041662402	0.04785	0.03708445	0.04688	0.041662402	0.04785	-3.798	0.22693	T	.	.	0.086	0.10739	B	.;.;.;.	.;.;.;.	0.712529	0.10815	7.496	0.7338969917002045	0.10310	0.06484	0.12493	N	AEFDBI	0.090973	0.18432	N	-1.39379364265766	0.02696	0.119399	-1.44644555773359	0.02802	0.1295701	0.999381314741562	0.39415	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.49	-5.98	0.02034	-0.235000	0.09031	-0.714000	0.07736	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.5063:0.2986:0.1951:0.0	8.865	0.34439	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006552	0.000000	0.009537	0.000000	0.000000	0.008621	0.012195	0.000000	0.08333	1012.83	37	chr18	78994584	.	G	A	1012.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.56;DP=281;ExcessHet=0;FS=1.814;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.844;SOR=0.488	GT:AD:DP:GQ:PL	0/1:45,39:84:99:1023,0,1049	5	0	1	0
chr19	408325	408325	G	A	exonic	C2CD4C	.	nonsynonymous SNV	C2CD4C:NM_001136263:exon2:c.C37T:p.R13W	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	.	.	0.00159744	0.0033	0.0006	0.0065	0	0.0018	0.0032	0.0116	0.0040	0.0011772	182	154602	rs184993923	0.0042	0.0040	0.0043	0.0042	0.0063	0.0041	0.0041	0.0047	0.0046	0.0009	0.0024	7.985e-05	0	0.0014	0.0063	0.0048	0.0038	0.0042	0.0031	0.0031	0.0032	0.0030	0.0048	0.0029	0.0028	0.0044	0.0042	0.0010	0	0.0037	0	0	0.0024	0	0.0048	0.0033	0.0037	0.005	0.63226	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	U	0.000000	0.999988	0.54805	D	2.865	0.83145	M	-1.18	0.78314	T	-4.67	0.79571	D	0.507	0.53884	0.037	0.82983	D	0.466	0.79400	T	10	0.01715219	0.00365	T	.	.	.	0.597	0.84019	.	.	0.597153157781	0.59395	0.6444122939753404	0.64376	.	.	0.882273554802	0.94264	D	0.259927	0.63124	T	-0.155467	0.27459	T	0.00651821	0.70757	D	0.045585966587592	0.04708	T	0.89491	0.63503	D	0.41155416	0.61524	0.19189295	0.42674	0.41155416	0.61525	0.19189295	0.42673	-5.526	0.42110	T	.	.	0.300	0.52953	B	.	.	4.444749	0.69046	25.3	0.99903675585674212	0.97502	0.58178	0.30572	D	AEFDBI	0.425607	0.49030	N	0.286642909147022	0.55471	3.711124	0.135149387963788	0.46360	2.883249	0.913922079582061	0.26438	0.635344	0.42169	0	0.547309	0.14657	0	0.654045	0.52621	0	0.562822	0.20929	0	.	.	3.2	1.96	0.25203	2.336000	0.43597	6.980000	0.57122	0.562000	0.28470	0.334000	0.25623	1.000000	0.68203	0.150000	0.20306	0.0:0.0:0.8062:0.1938	11.454	0.49417	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	0.004090	0.000000	0.000000	0.008475	0.000000	0.029412	0.000000	0.009434	0.08333	530.83	36	chr19	408325	.	G	A	530.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.838;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-2.076;SOR=0.565	GT:AD:DP:GQ:PL	0/1:36,24:60:99:541,0,967	5	0	1	0
chr19	740436	740436	G	A	exonic	PALM	.	nonsynonymous SNV	PALM:NM_002579:exon8:c.G587A:p.R196Q	.	377	1111	30	4	0	38	0.0168142	.	.	.	1621028	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0034	0.00179712	0.0070	0.0019	0.0025	0	0	0.0056	0.0110	0.0108	0.0025873	400	154602	rs149788617	0.0053	0.0053	0.0052	0.0055	0.0109	0.0052	0.0052	0.0103	0.0101	0.0008	0.0032	0.0044	0.0001	0.0012	0.0054	0.0055	0.0050	0.0109	0.0032	0.0032	0.0032	0.0033	0.0120	0.0030	0.0029	0.0095	0.0086	0.0012	0	0.0016	0.0023	0	0.0015	0.0034	0.0049	0.0028	0.0120	0.396	0.10623	T	0.555	0.09555	T	0.038	0.21002	B	0.003	0.08700	B	0.726794	0.09889	N	0.878657	1	0.81001	D	0.53	0.13656	N	2.03	0.20959	T	0.1	0.05810	N	0.131	0.16028	-0.9859	0.33615	T	0.034	0.14683	T	10	0.0061908364	0.00139	T	.	.	.	0.073	0.21317	.	.	0.243972157842	0.24002	0.20475948709286385	0.20392	0.171325869672	0.19303	0.240267768502	0.02815	T	0.018994	0.15211	T	-0.556514	0.00266	T	-0.564209	0.15984	T	0.0147694696718444	0.00309	T	0.780422	0.41514	T	0.026782995	0.01780	0.029422328	0.01278	0.026782995	0.01780	0.029422328	0.01278	-1.811	0.02542	T	.	.	0.062	0.01387	B	.;.	.;.	2.754484	0.36112	20.2	0.96348052000919482	0.29506	0.73002	0.35716	D	AEFDBHCI	0.180948	0.30826	N	-0.40913207807163	0.25149	1.363026	-0.322086197029723	0.27385	1.519283	0.99999999595144	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.96	1.55	0.22356	3.714000	0.54618	7.239000	0.57895	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.126000	0.19410	0.5439:0.0:0.4561:0.0	4.463	0.11095	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	0.004707	0.000000	0.002786	0.000000	0.000000	0.000000	0.003311	0.019231	0.25	3906.03	36	chr19	740436	.	G	A	3906.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.51;DP=395;ExcessHet=1.383;FS=15.571;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.063;SOR=1.382	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1175,0,1172	3	0	3	0
chr19	1003349	1003349	C	T	exonic	GRIN3B	.	nonsynonymous SNV	GRIN3B:NM_138690:exon2:c.C646T:p.R216W	.	422	1061	35	4	0	43	0.0198614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0011	0.00259585	0.0039	0.0008	0.0005	0.0003	0	0.0017	0.0147	0.0137	0.0013907	215	154602	rs186778870	0.0010	0.0011	0.0008	0.0013	0.0081	0.0010	0.0010	0.0076	0.0074	0.0002	0.0005	0.0019	5.219e-05	0	0.0048	0.0006	0.0014	0.0081	0.0009	0.0009	0.0007	0.0011	0.0091	0.0008	0.0007	0.0070	0.0062	0.0002	0	0.0010	0.0035	0	0	0	0.0009	0.0009	0.0091	0.061	0.37118	T	0.127	0.35082	T	0.979	0.59044	D	0.252	0.39069	B	0.339006	0.04176	U	1.561990	1	0.08975	N	1.59	0.40313	L	2.76	0.11515	T	-0.98	0.25986	N	0.184	0.19995	-0.9718	0.36819	T	0.019	0.07800	T	10	0.006773919	0.00154	T	.	.	.	0.070	0.20419	.	.	0.396044805602	0.39223	0.40497727324869415	0.40413	0.33433436957	0.35451	0.742625892162	0.73360	T	0.192655	0.54787	T	-0.593157	0.00160	T	-0.619959	0.11189	T	0.0161656329308806	0.00392	T	0.70483	0.31518	T	0.06804001	0.14790	0.049404286	0.07543	0.06804001	0.14789	0.049404286	0.07542	-8.27	0.62895	D	.	.	0.107	0.20078	B	.	.	2.310768	0.29582	18.17	0.99747818164571589	0.84002	0.14887	0.18636	N	AEFDBCI	0.171133	0.29808	N	-0.64841780993473	0.17507	0.9014388	-0.806597548780862	0.14337	0.7485406	8.135302757185E-4	0.07857	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.44	1.05	0.19280	-0.022000	0.12424	0.935000	0.22809	0.523000	0.23987	0.000000	0.06391	0.464000	0.25017	0.010000	0.09038	0.1943:0.6175:0.1882:0.0	7.225	0.25185	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	0.004611	0.000000	0.004087	0.000000	0.000000	0.008929	0.012422	0.003788	0.1667	1222.06	35	chr19	1003349	.	C	T	1222.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.52;DP=215;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.01;SOR=0.613	GT:AD:DP:GQ:PL	0/1:16,22:38:99:614,0,336	4	0	2	0
chr19	5693607	5693607	T	C	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_001276480:exon16:c.A1895G:p.H632R,LONP1:NM_004793:exon16:c.A2483G:p.H828R,LONP1:NM_001276479:exon17:c.A2291G:p.H764R	CODAS syndrome, Autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0129082212686	.	.	8.273e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs759128465	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.07619	T	0.712	0.13713	T	0.001	0.07471	B	0.003	0.08700	B	0.278227	0.14995	N	0.665110	1	0.08975	N	0.26	0.09897	N	1.6	0.28604	T	-0.96	0.25551	N	0.131	0.14905	-1.0093	0.27136	T	0.037	0.15770	T	10	0.059069097	0.07044	T	0.012908	0.31889	T	0.046	0.12618	0.559	0.67821	0.253981072376	0.25009	0.5191698308143036	0.51839	0.399117254086	0.40948	0.324678421021	0.14130	T	0.169207	0.51650	T	-0.271844	0.11552	T	-0.628262	0.10546	T	0.0148508567363024	0.00314	T	0.734227	0.36599	T	0.27707416	0.50766	0.10011906	0.23927	0.27707416	0.50766	0.10011906	0.23926	-5.298	0.39923	T	0.094938388421462	0.06407	0.059	0.09530	B	.;.;.;.;.;.	.;.;.;.;.;.	0.499667	0.08688	5.460	0.81264885097623973	0.13600	0.77519	0.38124	D	AEFDBHCIJ	0.190091	0.31733	N	-0.769273331056462	0.14116	0.7005552	-0.685457524216697	0.17324	0.9206768	0.999999987702434	0.74766	0.675202	0.55065	0	0.672317	0.65289	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	4.33	1.05	0.19280	1.537000	0.35689	-1.310000	0.05750	0.654000	0.53741	0.310000	0.25414	0.000000	0.08366	0.817000	0.38496	0.0:0.2953:0.0:0.7047	7.072	0.24362	819	0.41190	Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;.;.;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1896.06	34	chr19	5693607	.	T	C	1896.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.05;DP=314;ExcessHet=0.4139;FS=1.887;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=2.07;SOR=0.7	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1056,0,1333	4	0	2	0
chr19	6822306	6822306	C	A	exonic	VAV1	.	nonsynonymous SNV	VAV1:NM_001258206:exon5:c.C535A:p.R179S,VAV1:NM_001258207:exon5:c.C535A:p.R179S,VAV1:NM_005428:exon5:c.C535A:p.R179S	.	429	1088	5	0	0	5	0.00229253	.	.	.	1344508	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0528587382978	.	.	5.062e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs745430064	2.999e-05	3.215e-05	1.555e-05	4.472e-05	0.0003	2.246e-05	1.991e-05	0.0002	0.0002	0	0	0	0	0	0.0002	1.669e-05	0	0.0003	6.684e-06	6.644e-06	1.306e-05	0	1.488e-05	0	0	.	.	0	0	0	0	0	0	0	1.488e-05	0	0	0.024	0.47745	D	0.011	0.76473	D	0.858	0.47274	P	0.625	0.51564	P	0.002036	0.37411	N	0.179433	0.99141	0.44627	D	1.845	0.48678	L	1.46	0.32238	T	-2.61	0.56144	D	0.572	0.74826	-1.1382	0.01427	T	0.072	0.29323	T	10	0.4956239	0.61249	T	0.052859	0.65237	D	0.106	0.30130	.	.	0.426936546926	0.42313	0.602312451386527	0.60162	1.92046280059	0.92997	0.486159324646	0.36907	T	0.450281	0.79145	T	-0.172169	0.24907	T	-0.225406	0.52216	T	0.867542386054993	0.51755	D	0.917708	0.79334	D	0.64313364	0.74998	0.42691284	0.66452	0.64313364	0.75000	0.42691284	0.66452	-11.344	0.81511	D	.	.	0.771	0.82667	P	.;.;.;.;.	.;.;.;.;.	4.573627	0.72187	25.8	0.99770987802155997	0.85918	0.71393	0.34994	D	AEFDBI	0.242478	0.36392	N	0.11463189025531	0.47145	2.944347	0.177584138555765	0.48621	3.075604	0.453465907711224	0.20561	0.67177	0.52595	0	0.702456	0.74545	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.17	4.17	0.48303	1.152000	0.31275	4.693000	0.44374	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:1.0:0.0:0.0	12.165	0.53428	976	0.04745	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	929.83	35	chr19	6822306	.	C	A	929.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.416;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.33;SOR=0.739	GT:AD:DP:GQ:PL	0/1:31,32:63:99:940,0,879	5	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	30.01	327	chr19	8888826	.	T	*	30.01	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.99;DP=1785;ExcessHet=11.5949;FS=9.468;MLEAC=5;MLEAF=0.417;MQ=57.66;MQRankSum=-5.836;QD=0.02;ReadPosRankSum=1.12;SOR=1.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:264,61:374:99:0|1:8888826_T_*:1767,0,10902:8888826	1	0	5	0
chr19	8964345	8964345	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C12425T:p.P4142L	.	430	1066	26	0	0	26	0.0120482	.	.	.	3220290	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0019	0.033147	0.0146	0.0015	0.0403	0.1183	0	0.0023	0.0111	0.0062	0.0134992	2087	154602	rs17000819	0.0068	0.0068	0.0069	0.0067	0.1408	0.0067	0.0066	0.1377	0.1364	0.0003	0.0331	0.0028	0.1408	0.0003	0.0073	0.0014	0.0087	0.0069	0.0074	0.0074	0.0071	0.0077	0.1192	0.0070	0.0069	0.1114	0.1083	0.0013	0	0.0146	0.0040	0.1192	0.0004	0	0.0023	0.0132	0.0064	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.32	0.35219	T	-2.41	0.52938	N	0.024	0.00445	-1.0787	0.07602	T	0.001	0.00255	T	8	0.0019057095	0.00026	T	.	.	.	0.049	0.13647	.	.	.	.	0.028977685498381863	0.02846	.	.	0.208943784237	0.00767	T	.	.	.	-0.687407	0.00043	T	-0.630368	0.10387	T	0.0268780047867509	0.01528	T	0.334967	0.07125	T	.	.	.	.	.	.	.	.	-5.323	0.40170	T	.	.	0.120	0.24733	B	.	.	0.636195	0.10045	6.797	0.81400915962711162	0.13667	0.05249	0.11084	N	AEFBI	0.018723	0.00590	N	-0.327044557698409	0.28124	1.548697	-0.566832119775669	0.20361	1.096597	9.65795220478155E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.58	0.446	0.15813	0.052000	0.14046	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3526:0.6474:0.0	5.571	0.16482	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	1	0	0.009063	0.000000	0.006793	0.000000	0.000000	0.008621	0.021341	0.022727	0.1667	3188.06	94	chr19	8964345	.	G	A	3188.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.745;DP=591;ExcessHet=0.4139;FS=0.955;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=1.77;SOR=0.76	GT:AD:DP:GQ:PL	0/1:79,52:131:99:1334,0,2076	4	0	2	0
chr19	8965330	8965330	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T11440C:p.S3814P	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00120480050086	0.0009	0.000399361	0.0012	0.0001	0.0005	0	0	0.0015	0.0011	0.0021	0.0011061	171	154602	rs145105175	0.0011	0.0011	0.0010	0.0011	0.0057	0.0010	0.0010	0.0042	0.0037	8.979e-05	0.0009	0.0013	2.526e-05	7.499e-05	0.0057	0.0010	0.0012	0.0028	0.0009	0.0009	0.0009	0.0009	0.0023	0.0008	0.0007	0.0013	0.0012	0.0001	0	0.0006	0.0020	0	0.0003	0	0.0015	0.0019	0.0023	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.2	0.30555	N	0.057	0.02861	-0.9537	0.40327	T	0.006	0.02055	T	8	0.007739842	0.00176	T	0.001205	0.01558	T	0.079	0.23065	.	.	0.0716867268079	0.06686	0.07300417843481892	0.07237	.	.	0.292891085148	0.09345	T	.	.	.	-0.593488	0.00160	T	-0.630519	0.10376	T	0.0151501590845091	0.00330	T	0.187481	0.01957	T	.	.	.	.	.	.	.	.	-4.511	0.31032	T	.	.	0.140	0.30739	B	.	.	1.173890	0.15638	12.00	0.42603622507811872	0.03152	0.02125	0.06275	N	AEFBI	0.043023	0.06751	N	-1.04693928057025	0.07648	0.3559739	-1.11636432307811	0.07387	0.3591289	1.03372819345948E-4	0.05123	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.9	0.865	0.18211	0.044000	0.13876	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.463000	0.28185	0.7885:0.0:0.2115:0.0	3.512	0.07271	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.000000	0.000000	0.000000	0.021341	0.003788	0.1667	2666.06	89	chr19	8965330	.	A	G	2666.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.253;DP=451;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.4;SOR=0.704	GT:AD:DP:GQ:PL	0/1:47,46:93:99:1179,0,1335	4	0	2	0
chr19	8975467	8975467	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G5672A:p.S1891N	.	434	1069	19	0	0	19	0.00880853	.	.	.	3208423	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.00179810945064	0.0027	0.00199681	0.0043	0.0013	0.0014	0	0.0095	0.0057	0.0011	0.0025	0.0039909	617	154602	rs138381516	0.0041	0.0041	0.0041	0.0042	0.0044	0.0041	0.0040	0.0043	0.0042	0.0005	0.0016	0.0050	0	0.0101	0.0024	0.0044	0.0037	0.0023	0.0035	0.0035	0.0033	0.0037	0.0044	0.0032	0.0031	0.0040	0.0038	0.0006	0	0.0044	0.0032	0	0.0107	0.0068	0.0044	0.0028	0.0017	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.21	0.02664	T	-0.72	0.20358	N	0.029	0.00666	-0.9098	0.46879	T	0.006	0.02018	T	7	0.0061928034	0.00139	T	0.001798	0.03089	T	0.074	0.21613	.	.	0.0954503805726	0.09146	0.0777041636419737	0.07706	.	.	0.255685806274	0.04390	T	.	.	.	-0.707094	0.00033	T	-0.787102	0.02246	T	0.0210152579785477	0.00802	T	0.206179	0.02447	T	.	.	.	.	.	.	.	.	-4.977	0.36589	T	.	.	0.262	0.49673	B	.	.	0.132691	0.05280	1.777	0.45457973557953463	0.03569	0.00122	0.00764	N	AEFBI	0.019231	0.00649	N	-0.755817455938322	0.14476	0.7213874	-0.992618378551014	0.09950	0.4981169	9.78190115938903E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.225	0.225	0.14598	-0.501000	0.06479	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	.	.	.	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	1	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	1455.83	125	chr19	8975467	.	C	T	1455.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-5.319;DP=596;ExcessHet=0;FS=1.436;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.83;SOR=0.823	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1466,0,2266	5	0	1	0
chr19	10091546	10091546	C	A	exonic	SHFL	.	nonsynonymous SNV	SHFL:NM_018381:exon7:c.C559A:p.L187I	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00768630518959	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327653152	7.151e-07	2.052e-06	0	1.45e-06	1.263e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.263e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.085	0.41573	T	.	.	.	.	.	.	0.016754	0.27897	N	0.150439	0.991751	0.81001	D	.	.	.	.	.	.	-1.05	0.27463	N	0.363	0.40465	-0.8645	0.50937	T	0.131	0.44208	T	9	0.23068118	0.40025	T	0.007686	0.20404	T	0.080	0.23350	0.162	0.06618	0.220282294035	0.21616	0.5314722808493412	0.53072	1.76035964692	0.91122	.	.	.	.	.	.	-0.0385912	0.46159	T	-0.29321	0.45439	T	0.720200717449188	0.41709	D	0.749125	0.37025	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.36869	B	.;.	.;.	2.784100	0.36579	20.3	0.99082735723328597	0.52002	0.84984	0.44082	D	AEFBCI	0.712879	0.66586	D	0.195438631183773	0.50979	3.28303	0.23506401937308	0.51805	3.359838	0.999999467926837	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.56	3.56	0.39892	2.460000	0.44689	2.956000	0.35735	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	14.417	0.66730	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	.	.	.	.	.	.	.	.	0.08333	1139.83	41	chr19	10091546	.	C	A	1139.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.646;DP=267;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.267;SOR=0.885	GT:AD:DP:GQ:PL	0/1:34,44:78:99:1150,0,925	5	0	1	0
chr19	10338823	10338823	A	T	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.T202A:p.S68T,ICAM3:NM_002162:exon2:c.T202A:p.S68T	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0111873395115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12345	T	0.56	0.09113	T	0.644	0.40509	P	0.484	0.47189	P	0.845324	0.09003	N	0.922101	1	0.08975	N	1.75	0.45442	L	2.42	0.15376	T	-1.35	0.33598	N	0.106	0.09066	-0.9869	0.33371	T	0.047	0.20195	T	10	0.13681394	0.26029	T	0.011187	0.28559	T	0.046	0.12618	0.398	0.42590	0.176091768786	0.17195	0.43619765433563257	0.43536	0.830373386728	0.67598	0.27871337533	0.07313	T	0.043011	0.26367	T	-0.368256	0.03683	T	-0.76675	0.02877	T	0.174607753753662	0.18888	T	0.530647	0.17608	T	0.4152121	0.61771	0.11714897	0.28280	0.4152121	0.61772	0.11714897	0.28280	-6.386	0.49400	T	.	.	0.112	0.26607	B	.;.	.;.	0.601850	0.09701	6.473	0.92899100959644543	0.22454	0.04405	0.09992	N	AEFBCI	0.052770	0.09450	N	-0.628759364781396	0.18083	0.9360525	-0.7858936548561	0.14840	0.7775478	0.999667674259279	0.41534	0.643511	0.44296	0	0.685571	0.66316	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.66	-1.14	0.09241	-0.020000	0.12466	0.153000	0.15315	0.669000	0.69127	0.000000	0.06391	0.000000	0.08366	0.104000	0.18471	0.4881:0.3446:0.1673:0.0	6.043	0.18968	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2609.06	37	chr19	10338823	.	A	T	2609.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.969;DP=451;ExcessHet=0.4139;FS=0.468;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.656;SOR=0.727	GT:AD:DP:GQ:PL	0/1:61,44:105:99:1085,0,1520	4	0	2	0
chr19	10546953	10546953	C	T	exonic	ATG4D	.	nonsynonymous SNV	ATG4D:NM_001281504:exon4:c.C419T:p.A140V,ATG4D:NM_032885:exon4:c.C608T:p.A203V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0116354357597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	2.052e-06	1.364e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.174	0.30045	T	0.04	0.21238	B	0.062	0.26930	B	0.379958	0.04413	N	1.469850	1	0.25380	N	2.565	0.75005	M	.	.	.	-1.0	0.26422	N	0.219	0.24510	-0.9936	0.31670	T	0.108	0.39075	T	9	0.07417953	0.11306	T	0.011635	0.29446	T	0.013	0.01715	0.34	0.33141	0.218112801441	0.21410	0.14859234000529856	0.14781	0.396786836768	0.40786	0.374933153391	0.21536	T	0.024527	0.18515	T	-0.143265	0.29370	T	-0.443567	0.28410	T	0.118229561405242	0.14256	T	0.759724	0.38711	T	0.03291175	0.03406	0.056351785	0.10053	0.03291175	0.03406	0.056351785	0.10052	-4.624	0.32472	T	.	.	0.072	0.05360	B	.;.	.;.	1.315460	0.17191	13.01	0.99564953133491019	0.72014	0.23238	0.22011	N	AEFDBI	0.100694	0.20241	N	-0.5946127001015	0.19107	0.9974452	-0.598634890238204	0.19528	1.048161	0.998127177076278	0.36460	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.31	3.14	0.35196	0.487000	0.22064	0.213000	0.15984	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.948000	0.49324	0.1527:0.766:0.0:0.0814	8.734	0.33679	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	.	.	.	.	.	.	.	.	0.08333	205.83	33	chr19	10546953	.	C	T	205.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.823;DP=228;ExcessHet=0;FS=2.754;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.96;ReadPosRankSum=1.07;SOR=1.151	GT:AD:DP:GQ:PL	0/1:41,11:54:99:216,0,1283	5	0	1	0
chr19	11830350	11830350	C	-	exonic	ZNF440	.	frameshift deletion	ZNF440:NM_152357:exon2:c.71delC:p.Q25Rfs*8	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7455.03	36	chr19	11830349	.	TC	T	7455.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.941;DP=554;ExcessHet=0.4139;FS=1.182;MLEAC=2;MLEAF=0.167;MQ=59.29;MQRankSum=-3.49;QD=19.12;ReadPosRankSum=-0.292;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,98:192:99:0|1:11830349_TC_T:3812,0,3626:11830349	4	0	2	0
chr19	11830353	11830353	A	G	exonic	ZNF440	.	nonsynonymous SNV	ZNF440:NM_152357:exon2:c.A74G:p.Q25R	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.000466004755903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.722e-06	2.75e-06	8.961e-05	6.4e-07	4.3e-07	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.988644	0.24387	N	3.585	0.93597	H	3.08	0.08460	T	-3.33	0.68999	D	0.472	0.50778	-1.0184	0.24236	T	0.113	0.40238	T	9	0.95037866	0.94373	D	4.66E-4	0.00116	T	0.176	0.44373	0.905	0.97985	0.54351673446	0.54005	0.30461171563045186	0.30374	0.289669501288	0.31379	0.304031908512	0.11005	T	0.087773	0.38014	T	-0.0228682	0.48445	T	-0.270625	0.47756	T	0.972949624061584	0.69898	D	0.648035	0.25918	T	0.56370175	0.70714	0.60875195	0.77247	0.56370175	0.70715	0.60875195	0.77247	-10.175	0.74953	D	.	.	0.614	0.75140	P	.;.;.	.;.;.	2.324712	0.29777	18.23	0.98371996315321097	0.40760	0.71566	0.35069	D	AEFBI	0.056496	0.10450	N	0.204371605825787	0.51409	3.322524	-0.125997059650085	0.34346	1.97457	1.31283105505015E-4	0.05486	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	1.74	1.74	0.23636	1.998000	0.40415	.	.	0.478000	0.22058	0.997000	0.40164	0.073000	0.22253	0.052000	0.15357	1.0:0.0:0.0:0.0	6.758	0.22711	934	0.15400	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	7511.06	36	chr19	11830353	.	A	G	7511.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.426;DP=545;ExcessHet=0.4139;FS=0.757;MLEAC=2;MLEAF=0.167;MQ=59.27;MQRankSum=-3.471;QD=19.11;ReadPosRankSum=-0.229;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,99:193:99:0|1:11830349_TC_T:3838,0,3623:11830349	4	0	2	0
chr19	12825879	12825879	C	T	exonic	RTBDN	.	nonsynonymous SNV	RTBDN:NM_001080997:exon6:c.G517A:p.V173M,RTBDN:NM_001270441:exon6:c.G517A:p.V173M,RTBDN:NM_001270442:exon6:c.G535A:p.V179M,RTBDN:NM_001270443:exon6:c.G517A:p.V173M,RTBDN:NM_001270444:exon6:c.G517A:p.V173M,RTBDN:NM_001270445:exon6:c.G499A:p.V167M,RTBDN:NM_031429:exon7:c.G613A:p.V205M	.	423	1064	35	0	0	35	0.0161812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	0.0062	0.00379393	0.0059	0.0014	0.0060	0.0001	0.0031	0.0086	0.0098	0.0019	0.0056079	867	154602	rs148952767	0.0055	0.0055	0.0054	0.0055	0.0194	0.0054	0.0053	0.0165	0.0154	0.0011	0.0065	0.0414	0	0.0032	0.0194	0.0051	0.0080	0.0018	0.0052	0.0052	0.0055	0.0050	0.0081	0.0049	0.0048	0.0069	0.0065	0.0014	0.0033	0.0081	0.0372	0.0002	0.0014	0.0204	0.0064	0.0080	0.0021	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.326316	0.14188	N	0.581337	1	0.18612	N	2.3	0.65703	M	-1.23	0.78860	T	-2.23	0.50012	N	0.142	0.19728	-0.5274	0.67639	T	0.449	0.78378	T	10	0.008632958	0.00196	T	.	.	.	0.333	0.65522	.	.	0.679993856582	0.67727	0.6243524136616043	0.62368	0.959251436941	0.72940	0.519055008888	0.41493	T	0.110779	0.45160	T	-0.395984	0.02460	T	-0.338552	0.40509	T	0.018487128007871	0.00564	T	0.833717	0.50261	T	0.13471617	0.31290	0.15347806	0.36063	0.13471617	0.31290	0.15347806	0.36062	-5.047	0.37346	T	.	.	0.269	0.55285	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.305741	0.29507	18.15	0.99645482826696152	0.76943	0.05403	0.11271	N	ALL	0.110435	0.21899	N	-0.147440916189132	0.35344	2.028895	-0.396753268390047	0.25093	1.377961	0.999999999977259	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.52208	0.10781	0	0.636	0.56748	0	.	.	4.36	1.89	0.24700	0.114000	0.15353	.	.	0.549000	0.26987	0.043000	0.21118	0.008000	0.19753	0.176000	0.21171	0.0:0.7037:0.0:0.2963	5.851	0.17945	495	0.76383	Folate receptor-like;.;.;Folate receptor-like;Folate receptor-like;Folate receptor-like;Folate receptor-like;Folate receptor-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	0.021169	0.040404	0.017663	0.005848	0.050000	0.017241	0.030675	0.011364	0.08333	748.83	35	chr19	12825879	.	C	T	748.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.758;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.76;SOR=0.627	GT:AD:DP:GQ:PL	0/1:30,33:63:99:759,0,685	5	0	1	0
chr19	13209372	13209372	G	C	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon45:c.C6469G:p.R2157G,CACNA1A:NM_001127222:exon45:c.C6466G:p.R2156G	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	4	1517	1	0	0	1	0.000329489	.	.	.	797733	EEG_with_focal_epileptiform_discharges|not_provided|Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42	Human_Phenotype_Ontology:HP:0010840,Human_Phenotype_Ontology:HP:0011185,MedGen:C4021199|MedGen:C3661900|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.389	0.433139985062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs554393704	3.699e-05	3.283e-05	4.045e-05	3.33e-05	0.0002	2.836e-05	2.536e-05	8.7e-05	6.513e-05	3.863e-05	0	0	0	0	0	3.19e-05	7.887e-05	0.0002	2.629e-05	2.627e-05	3.855e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.014	0.53172	D	0.022	0.60337	D	.	.	.	.	.	.	0.000000	0.00162	N	7739.210000	0.601483	0.32542	D	2.395	0.69210	M	-1.48	0.97583	T	-5.01	0.82450	D	0.259	0.36148	-0.2711	0.75782	T	0.577	0.84764	D	10	0.5237774	0.62792	D	0.43314	0.94021	D	0.389	0.70521	0.367	0.37524	0.851979344464	0.85055	0.42956321060431346	0.42873	0.346501304651	0.36554	0.81663942337	0.84511	D	0.734001	0.92578	D	-0.161307	0.26560	T	-0.190048	0.55586	T	0.895759463310242	0.54736	D	0.883312	0.67118	D	0.64007294	0.74835	0.43784794	0.67190	0.64007294	0.74836	0.43784794	0.67191	-5.709	0.49408	T	0.21799840223473396	0.29348	0.276	0.53587	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.847524	0.23471	16.03	0.90092486141612993	0.19375	0.31115	0.24256	N	AEFDGBHCI	0.246327	0.36710	N	-0.498210821757816	0.22139	1.18006	-0.670901627207533	0.17690	0.9417514	0.999998096444533	0.74766	0.718356	0.82227	0	0.484254	0.07192	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.14	-1.35	0.08638	0.490000	0.22112	1.702000	0.28138	-0.186000	0.09761	0.032000	0.20554	0.999000	0.35428	0.103000	0.18424	0.0:0.0:0.2558:0.7442	10.834	0.45879	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	0.001034	0.005319	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.1667	627.06	38	chr19	13209372	.	G	C	627.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.916;DP=198;ExcessHet=0.4139;FS=1.969;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.222;SOR=0.582	GT:AD:DP:GQ:PL	0/1:23,10:33:99:193,0,519	4	0	2	0
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y,CACNA1A:NM_001127222:exon26:c.G4247A:p.C1416Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	108.56	41	chr19	13261453	.	C	T	108.56	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.346;DP=260;ExcessHet=1.383;FS=142.291;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.05;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,15:48:53:.:.:53,0,497:.	2	0	3	1
chr19	16977386	16977386	C	G	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon15:c.G1740C:p.E580D	Anterior segement dysgenesis 8, Autosomal recessive	442	1073	7	0	0	7	0.00325128	.	.	.	1662127	CPAMD8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0078	0.00738818	0.0026	0.0234	0.0017	0	0.0002	0.0009	0.0022	0.0002	0.0024515	379	154602	rs138079023	0.0012	0.0012	0.0012	0.0011	0.0214	0.0011	0.0011	0.0201	0.0195	0.0214	0.0019	0.0046	0	7.496e-05	0.0065	0.0005	0.0024	0.0003	0.0065	0.0065	0.0067	0.0062	0.0211	0.0061	0.0060	0.0199	0.0195	0.0211	0	0.0023	0.0063	0	0	0.0102	0.0005	0.0062	0.0002	0.0	0.91255	D	0.032	0.53426	D	.	.	.	.	.	.	0.715225	0.06281	U	1.208260	0.999996	0.58761	D	.	.	.	-0.22	0.66474	T	-2.42	0.53096	N	0.173	0.18512	-1.0657	0.10386	T	0.051	0.21650	T	9	0.006012529	0.00135	T	.	.	.	.	.	.	.	0.618865024872	0.61577	.	.	0.397374807184	0.40824	0.42363139987	0.28336	T	.	.	.	-0.452281	0.01095	T	-0.404861	0.32820	T	0.0586524737989908	0.06954	T	0.79652	0.44001	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.400520	0.18148	13.57	0.99211913250283845	0.55624	0.65121	0.32631	D	AEFGBI	0.231397	0.35463	N	-0.271333916666909	0.30261	1.685597	-0.369269081640496	0.25918	1.428362	9.8379370650637E-4	0.08091	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	2.78	1.68	0.23219	2.446000	0.44566	-0.144000	0.11487	0.547000	0.25779	1.000000	0.71638	0.000000	0.08366	0.085000	0.17524	0.0:0.6183:0.1736:0.2081	5.314	0.15154	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	0.010595	0.010204	0.010870	0.026316	0.000000	0.000000	0.006135	0.000000	0.1667	2551.06	59	chr19	16977386	.	C	G	2551.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.355;DP=425;ExcessHet=0.4139;FS=1.685;MLEAC=2;MLEAF=0.167;MQ=59.07;MQRankSum=-2.718;QD=12.15;ReadPosRankSum=0.516;SOR=0.599	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1451,0,1591	4	0	2	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	645.65	42	chr19	17286690	.	GTT	*	645.65	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.284;DP=250;ExcessHet=2.3007;FS=1.471;MLEAC=3;MLEAF=0.25;MQ=59.9;MQRankSum=0;QD=4.3;ReadPosRankSum=0.656;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,28:36:99:.:.:1033,0,434:.	3	0	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	739.81	42	chr19	17286692	.	T	*	739.81	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.798;DP=247;ExcessHet=0.1336;FS=3.403;MLEAC=6;MLEAF=0.5;MQ=59.92;MQRankSum=0;QD=5.73;ReadPosRankSum=1.57;SOR=0.382	GT:AD:DP:GQ:PL	1/0:0,30:36:57:1849,192,57	1	1	4	0
chr19	21807887	21807887	C	T	exonic	ZNF43	.	nonsynonymous SNV	ZNF43:NM_001256651:exon3:c.G1955A:p.R652Q,ZNF43:NM_001256654:exon3:c.G1955A:p.R652Q,ZNF43:NM_001256653:exon4:c.G2177A:p.R726Q,ZNF43:NM_003423:exon4:c.G2150A:p.R717Q,ZNF43:NM_001256650:exon6:c.G2132A:p.R711Q,ZNF43:NM_001256648:exon7:c.G2132A:p.R711Q,ZNF43:NM_001256649:exon7:c.G2132A:p.R711Q	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0012786648347	.	0.000199681	3.335e-05	0	0	0	0	6.045e-05	0	0	3.88e-05	6	154602	rs560664191	2.602e-05	3.147e-05	2.044e-05	3.165e-05	4.641e-05	1.934e-05	1.693e-05	1.747e-05	1.504e-05	0	0	0	0	0	0	2.519e-05	9.943e-05	4.641e-05	2.699e-05	3.994e-05	2.632e-05	2.77e-05	2.981e-05	8.31e-06	5.25e-06	4.95e-06	1.85e-06	2.495e-05	0	0	0	0	0	0	2.981e-05	0.0005	0	1.0	0.00964	T	1.0	0.02733	T	0.084	0.24799	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	-0.325	0.03546	N	3.19	0.35960	T	-0.34	0.12661	N	0.063	0.04307	-0.9945	0.31432	T	0.042	0.17994	T	9	0.031441808	0.01279	T	0.001279	0.01759	T	0.006	0.00375	0.376	0.38994	0.29385284311	0.29004	0.011838944557071615	0.01143	0.0254987253627	0.02608	0.237254887819	0.02548	T	0.021032	0.16449	T	-0.301356	0.08532	T	-0.670653	0.07567	T	0.0184259192675756	0.00559	T	0.0169983	0.00095	T	0.010705286	0.00009	0.020856379	0.00159	0.010705286	0.00009	0.020856379	0.00159	-2.637	0.06790	T	.	.	0.250	0.48428	B	.;.;.;.;.	.;.;.;.;.	0.038927	0.04558	1.243	0.098929165228744675	0.00112	0.00016	0.00195	N	AEFBCI	0.013902	0.00201	N	-1.27505651504773	0.03978	0.1787162	-1.32551322881208	0.04103	0.1928375	2.69662795448923E-4	0.06244	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	1.76	-0.439	0.11652	-0.688000	0.05251	.	.	-1.790000	0.00639	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.763:0.0:0.237	6.454	0.21120	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2632.06	34	chr19	21807887	.	C	T	2632.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=341;ExcessHet=0.4139;FS=3.411;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.968;SOR=0.476	GT:AD:DP:GQ:PL	0/1:47,65:112:99:1610,0,1189	4	0	2	0
chr19	22314444	22314444	A	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.A1027G:p.T343A	.	430	1085	5	0	2	7	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00225949283744	.	.	0.0002	0.0001	0.0003	0	0.0002	0.0002	0	0	0.0001229	19	154602	rs764887966	0.0028	0.0041	0.0026	0.0030	0.0085	0.0027	0.0027	0.0078	0.0075	0.0006	0.0074	0.0019	0.0085	0.0053	0.0030	0.0020	0.0041	0.0072	0.0018	0.0040	0.0016	0.0019	0.0051	0.0016	0.0015	0.0035	0.0032	0.0002	0	0.0044	0.0003	0.0008	0.0019	0	0.0022	0.0010	0.0051	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.50570	L	5.48	0.00939	T	.	.	.	0.196	0.21580	-0.9677	0.37673	T	0.005	0.01506	T	6	0.0062211454	0.00140	T	0.002259	0.04314	T	.	.	.	.	0.0297737177859	0.01360	0.006950557827424315	0.00662	0.0117517464384	0.01108	0.406716108322	0.26003	T	0.013321	0.11547	T	-0.600712	0.00144	T	-0.630952	0.10343	T	0.00283690446206348	0.00030	T	0.00827695	0.00038	T	0.054282665	0.10392	0.09702577	0.23077	0.054282665	0.10391	0.09702577	0.23077	-7.621	0.58457	D	.	.	0.091	0.13080	B	.	.	1.310056	0.17132	12.98	0.43167113511087324	0.03231	0.35119	0.25227	N	AEFBCI	0.071668	0.14277	N	-0.7708437796746	0.14074	0.6981655	-0.983818581312014	0.10148	0.5092959	1.31273438236576E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.428	-0.855	0.10158	1.106000	0.30712	.	.	0.221000	0.18078	0.006000	0.17386	0.000000	0.08366	0.095000	0.18041	0.513:0.0:0.0:0.487	4.317	0.10440	988	0.01987	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	.	.	.	.	.	.	.	.	0.08333	168.83	36	chr19	22314444	.	A	G	168.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.94;DP=255;ExcessHet=0;FS=5.456;MLEAC=1;MLEAF=0.083;MQ=59.55;MQRankSum=-3.915;QD=2.25;ReadPosRankSum=-4.174;SOR=1.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,9:75:99:0|1:22314389_T_A:179,0,2589:22314389	5	0	1	0
chr19	24087311	24087311	C	G	exonic	ZNF254	.	nonsynonymous SNV	ZNF254:NM_001278665:exon1:c.C4G:p.P2A,ZNF254:NM_203282:exon1:c.C4G:p.P2A	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0019713139561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.008	0.92824	D	0.893	0.49136	P	0.328	0.42011	B	.	.	.	.	1	0.08975	N	1.475	0.37068	L	5.63	0.06681	T	-3.92	0.73151	D	0.291	0.32921	-0.9821	0.34515	T	0.016	0.06473	T	8	0.18383685	0.33729	T	0.001971	0.03535	T	0.027	0.05988	.	.	0.163833314356	0.15978	0.04684604338762711	0.04627	0.00249987597865	0.00216	0.416550576687	0.27363	T	0.002883	0.02278	T	-0.169629	0.25290	T	-0.481437	0.24294	T	0.409370094537735	0.29294	T	0.451355	0.12777	T	0.0632271	0.13291	0.16373292	0.37966	0.0632271	0.13290	0.16373292	0.37965	-0.505	0.00586	T	.	.	0.066	0.03128	B	.;.	.;.	1.072807	0.14550	11.12	0.7371561832591732	0.10429	0.01378	0.04696	N	ALL	0.024429	0.01512	N	-0.725143181326785	0.15317	0.7708464	-0.955046768352261	0.10806	0.5466583	0.999999980546581	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	0.225	0.225	0.14598	0.299000	0.18892	.	.	0.299000	0.18918	0.058000	0.21700	0.000000	0.08366	0.055000	0.15596	.	.	.	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	5612.06	39	chr19	24087311	.	C	G	5612.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.99;DP=603;ExcessHet=0.4139;FS=1.742;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.424;SOR=0.817	GT:AD:DP:GQ:PL	0/1:111,107:218:99:2723,0,2590	4	0	2	0
chr19	34196655	34196655	T	C	exonic	LSM14A	.	nonsynonymous SNV	LSM14A:NM_001114093:exon3:c.T307C:p.S103P,LSM14A:NM_001384420:exon3:c.T307C:p.S103P,LSM14A:NM_001384421:exon3:c.T307C:p.S103P,LSM14A:NM_001384423:exon3:c.T307C:p.S103P,LSM14A:NM_001384424:exon3:c.T307C:p.S103P,LSM14A:NM_001384425:exon3:c.T307C:p.S103P,LSM14A:NM_001384426:exon3:c.T307C:p.S103P,LSM14A:NM_001384427:exon3:c.T307C:p.S103P,LSM14A:NM_001384428:exon3:c.T307C:p.S103P,LSM14A:NM_001384429:exon3:c.T307C:p.S103P,LSM14A:NM_001384430:exon3:c.T25C:p.S9P,LSM14A:NM_001384435:exon3:c.T307C:p.S103P,LSM14A:NM_001384436:exon3:c.T307C:p.S103P,LSM14A:NM_015578:exon3:c.T307C:p.S103P	.	436	1063	22	1	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0039	0.00299521	0.0037	0.0002	0.0018	0.0001	0.0009	0.0040	0.0022	0.0088	0.0037968	587	154602	rs149170773	0.0050	0.0050	0.0049	0.0050	0.0095	0.0049	0.0048	0.0090	0.0088	0.0007	0.0013	0.0034	7.58e-05	0.0007	0.0044	0.0053	0.0047	0.0095	0.0033	0.0033	0.0034	0.0032	0.0109	0.0031	0.0030	0.0085	0.0077	0.0009	0.0022	0.0016	0.0029	0.0002	0.0007	0	0.0053	0.0024	0.0109	0.075	0.35165	T	0.318	0.22223	T	0.006	0.61912	B	0.009	0.70027	B	0.000060	0.53742	D	0.171191	0.999982	0.58761	D	2.24	0.63355	M	1.56	0.46777	T	-2.07	0.51157	N	0.368	0.40963	-0.9647	0.38270	T	0.123	0.42505	T	10	0.008370787	0.00190	T	.	.	.	0.089	0.25827	.	.	0.488687234069	0.48499	0.45877763395615406	0.45795	1.51235230355	0.87267	0.583367943764	0.50560	T	0.012023	0.12415	T	-0.471249	0.00835	T	-0.442302	0.28552	T	0.0700592920184135	0.08660	T	0.887811	0.61653	D	0.3325327	0.55677	0.46197814	0.68760	0.3325327	0.55677	0.46197814	0.68760	-4.892	0.40003	T	.	.	0.121	0.30765	B	.;.;.;.	.;.;.;.	3.321970	0.45692	22.2	0.99853812900237782	0.93279	0.90422	0.51585	D	AEFGBI	0.546051	0.56031	D	0.100066636690499	0.46465	2.886484	0.184242584179069	0.48982	3.107181	0.999456602423443	0.39788	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.477000	0.35039	6.020000	0.52779	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.324	0.73856	943	0.12886	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005061	0.000000	0.000000	0.008824	0.000000	0.008621	0.009434	0.011364	0.08333	703.83	33	chr19	34196655	.	T	C	703.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.54;DP=251;ExcessHet=0;FS=0.875;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.074;SOR=0.538	GT:AD:DP:GQ:PL	0/1:48,32:80:99:714,0,1153	5	0	1	0
chr19	34958015	34958015	C	T	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1840A:p.A614T	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0002	0.0197684	0.0113	0.0002	0.0010	0.0100	0	0.0003	0.0085	0.0785	0.0095212	1472	154602	rs200278064	0.0047	0.0047	0.0029	0.0065	0.0703	0.0046	0.0046	0.0688	0.0682	0.0003	0.0005	0.0013	0.0070	0.0003	0.0035	0.0001	0.0060	0.0703	0.0028	0.0028	0.0015	0.0041	0.0728	0.0026	0.0025	0.0665	0.0640	0.0002	0	0.0001	0.0026	0.0071	0	0	0.0001	0.0019	0.0728	0.084	0.32929	T	0.372	0.19362	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.34	0.06063	T	-0.2	0.10136	N	0.14	0.13911	-0.9359	0.43257	T	0.008	0.02926	T	9	0.0024052262	0.00036	T	.	.	.	0.033	0.08068	.	.	.	.	0.13585855362880117	0.13509	0.247095792662	0.27244	0.224681705236	0.01598	T	0.002028	0.10204	T	-0.646089	0.00076	T	-0.648189	0.09081	T	0.0184147399786136	0.00558	T	0.390461	0.09684	T	0.036278095	0.04431	0.05228279	0.08582	0.036278095	0.04430	0.05228279	0.08581	-2.71	0.07387	T	.	.	0.069	0.03093	B	.;.	.;.	1.257329	0.16549	12.61	0.99372635559404843	0.61498	0.00058	0.00432	N	AEFDBHCI	0.031105	0.03259	N	-1.10928015456417	0.06477	0.2982812	-1.15851108829091	0.06616	0.3190628	0.317559909742204	0.19351	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.64	0.355	0.15305	0.283000	0.18605	-2.383000	0.03823	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2321:0.3876:0.2278:0.1524	1.006	0.01394	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.026515	0.08333	1109.83	38	chr19	34958015	.	C	T	1109.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.01;DP=308;ExcessHet=0;FS=2.952;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.656;SOR=0.48	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1120,0,1067	5	0	1	0
chr19	34958041	34958041	C	G	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1814C:p.S605T	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	7.7e-05	0.0197684	0.0112	0.0002	0.0009	0.0099	0	4.833e-05	0.0085	0.0772	0.0093919	1452	154602	rs201800628	0.0046	0.0046	0.0028	0.0064	0.0702	0.0045	0.0045	0.0687	0.0681	0.0003	0.0005	0	0.0070	0	0.0028	3.239e-05	0.0057	0.0702	0.0027	0.0027	0.0014	0.0040	0.0732	0.0025	0.0024	0.0669	0.0644	0.0002	0	0.0001	0	0.0071	0	0	5.879e-05	0.0019	0.0732	0.855	0.02705	T	0.479	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.37	0.05847	T	-0.01	0.07155	N	0.142	0.14196	-0.9333	0.43650	T	0.006	0.02055	T	9	0.0021786094	0.00031	T	.	.	.	0.012	0.01476	.	.	.	.	0.0653250227160099	0.06471	0.16430499449	0.18538	0.245909079909	0.03349	T	4.45E-4	0.05823	T	-0.734228	0.00022	T	-0.774795	0.02614	T	0.000397459311521812	0.00003	T	0.160684	0.01448	T	0.023038864	0.01011	0.03799009	0.03572	0.023038864	0.01010	0.03799009	0.03571	-3.949	0.23038	T	.	.	0.068	0.03625	B	.;.	.;.	0.131981	0.05276	1.772	0.60119208613842268	0.06386	0.00090	0.00598	N	AEFDBHCI	0.038494	0.05455	N	-1.80736661476347	0.00527	0.02270495	-1.85435263990769	0.00600	0.02666944	0.654660405635976	0.22203	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.27	-3.6	0.04277	-0.933000	0.04067	-5.939000	0.01546	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.231000	0.22761	0.1689:0.4061:0.1664:0.2586	1.076	0.01530	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.026515	0.08333	900.83	38	chr19	34958041	.	C	G	900.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.43;DP=306;ExcessHet=0;FS=3.066;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.03;SOR=0.749	GT:AD:DP:GQ:PL	0/1:44,33:77:99:911,0,1124	5	0	1	0
chr19	35033703	35033703	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon3:c.G412A:p.V138I,SCN1B:NM_001321605:exon3:c.G313A:p.V105I,SCN1B:NM_199037:exon3:c.G412A:p.V138I	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	178737	Long_QT_syndrome|Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|SCN1B-related_disorder|Cardiovascular_phenotype|not_provided|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|.|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.262	.	0.0002	0.0209665	0.0117	0.0011	0.0008	0.0057	0	0.0001	0.0155	0.0804	0.0103621	1602	154602	rs72558029	0.0052	0.0052	0.0031	0.0072	0.0784	0.0051	0.0050	0.0768	0.0762	0.0007	0.0003	0	0.0030	1.872e-05	0.0035	8.453e-05	0.0086	0.0784	0.0034	0.0035	0.0020	0.0049	0.0882	0.0032	0.0031	0.0813	0.0785	0.0009	0	0.0002	0	0.0085	0	0	5.88e-05	0.0052	0.0882	0.398	0.26085	T	0.643	0.24477	T	0.279	0.52105	B	0.013	0.45631	B	0.058319	0.22412	N	0.436536	0.989249	0.40915	D	0.445	0.12748	N	-4.53	0.97713	D	-0.53	0.16393	N	0.041	0.01421	0.604	0.91953	D	0.795	0.93057	D	10	0.0017569363	0.00023	T	.	.	.	0.262	0.57482	.	.	.	.	0.6908096357470496	0.69020	0.712814376389	0.61783	0.553019821644	0.46284	T	0.075724	0.35245	T	-0.332975	0.05890	T	-0.191892	0.55411	T	0.00667188954088941	0.00075	T	0.755224	0.39577	T	0.068868704	0.15040	0.051318746	0.08236	0.089256935	0.20848	0.051318746	0.08236	-3.791	0.29312	T	0.11411305614658733	0.10062	0.075	0.26638	B	.;.;.;.;.	.;.;.;.;.	2.971009	0.39600	21.0	0.99838461454441818	0.91886	0.75004	0.36706	D	AEFBI	0.187454	0.31475	N	-0.0515020911810638	0.39536	2.333031	0.0647403313162013	0.42791	2.594436	0.958561964384985	0.28371	0.706548	0.73137	0	0.610034	0.51514	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	2.945000	0.48735	5.616000	0.49070	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.276	0.54054	895	0.25842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.045455	0.08333	3179.83	45	chr19	35033703	.	G	A	3179.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.258;DP=434;ExcessHet=0;FS=0.467;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.893;SOR=0.74	GT:AD:DP:GQ:PL	0/1:114,129:243:99:3190,0,2725	5	0	1	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	950.98	49	chr19	35511491	.	C	*	950.98	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.29;DP=331;ExcessHet=0.095;FS=2.688;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=0.252;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,32:69:99:.:.:1191,0,1361:.	3	1	2	0
chr19	35511809	35511809	G	A	exonic	DMKN	.	nonsynonymous SNV	DMKN:NM_001126056:exon4:c.C689T:p.T230M,DMKN:NM_001126057:exon4:c.C689T:p.T230M,DMKN:NM_001126058:exon4:c.C689T:p.T230M,DMKN:NM_001190347:exon4:c.C689T:p.T230M,DMKN:NM_001190348:exon4:c.C689T:p.T230M,DMKN:NM_001190349:exon4:c.C689T:p.T230M,DMKN:NM_033317:exon4:c.C689T:p.T230M	.	423	1088	10	1	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0408501596684	0.0013	0.000399361	0.0008	0	0.0011	0.0001	0	0.0011	0.0024	0.0002	0.0006856	106	154602	rs143821677	0.0009	0.0009	0.0009	0.0010	0.0114	0.0009	0.0009	0.0092	0.0084	0.0010	0.0009	0.0064	0.0003	3.747e-05	0.0114	0.0008	0.0015	0.0006	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0005	0.0006	0.0006	9.628e-05	0	0.0003	0.0066	0.0004	0	0.0238	0.0008	0.0005	0.0006	0.0	0.91255	D	0.03	0.56192	D	1.0	0.90584	D	0.982	0.84481	D	0.021082	0.26903	N	0.181162	0.94786	0.30517	N	2.35	0.67516	M	0.78	0.49358	T	-3.13	0.74427	D	0.389	0.47672	-0.5665	0.66154	T	0.247	0.61647	T	10	0.013833553	0.00292	T	0.04085	0.59602	D	0.166	0.42578	.	.	0.537495771734	0.53400	0.3212080843794247	0.32033	0.414822555637	0.42151	0.481433689594	0.36254	T	0.130357	0.45920	T	-0.259357	0.12976	T	-0.2031	0.54353	T	0.0600013646226494	0.07169	T	0.80342	0.47186	T	0.11771791	0.27747	0.19075215	0.42495	0.11771791	0.27746	0.19075215	0.42494	-5.371	0.42073	T	.	.	0.223	0.46700	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.086000	0.41532	21.4	0.99851530562455748	0.93102	0.75055	0.36733	D	AEFDBI	0.270895	0.38686	N	0.319240517857951	0.57137	3.879958	0.195817958105549	0.49616	3.16278	0.916752447316411	0.26521	0.497415	0.19182	0	0.59043	0.45803	0	0.39291	0.06387	1	0.530356	0.10902	0	.	.	4.31	3.27	0.36580	1.249000	0.32441	4.660000	0.44233	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.128000	0.19490	0.112:0.0:0.888:0.0	7.919	0.29000	830	0.39242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.012228	0.023392	0.000000	0.025862	0.003049	0.003788	0.1667	2791.06	40	chr19	35511809	.	G	A	2791.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.794;DP=332;ExcessHet=0.4139;FS=2.679;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=1.32;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,47:85:99:.:.:1156,0,954:.	4	0	2	0
chr19	35513073	35513073	C	A	exonic	DMKN	.	nonsynonymous SNV	DMKN:NM_001126056:exon1:c.G403T:p.V135L,DMKN:NM_001126057:exon1:c.G403T:p.V135L,DMKN:NM_001126058:exon1:c.G403T:p.V135L,DMKN:NM_001190347:exon1:c.G403T:p.V135L,DMKN:NM_001190348:exon1:c.G403T:p.V135L,DMKN:NM_001190349:exon1:c.G403T:p.V135L,DMKN:NM_033317:exon1:c.G403T:p.V135L	.	423	1088	10	1	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00279779739038	0.0012	0.000199681	0.0006	0	0.0004	0	0	0.0011	0.0022	6.06e-05	0.0006015	93	154602	rs78344601	0.0009	0.0009	0.0009	0.0009	0.0113	0.0008	0.0008	0.0091	0.0083	0.0007	0.0007	0.0065	0	3.769e-05	0.0113	0.0008	0.0014	0.0004	0.0006	0.0006	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0006	0.0002	0	0.0003	0.0066	0	0	0.0238	0.0008	0.0005	0.0006	0.05	0.46910	D	0.279	0.21745	T	0.003	0.38464	B	0.002	0.36557	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	2.74	0.18083	T	-0.44	0.18670	N	0.037	0.01911	-1.0326	0.19618	T	0.022	0.09421	T	9	0.005305171	0.00116	T	0.002798	0.05840	T	0.028	0.06331	0.246	0.18139	0.0482279557977	0.04254	0.09819339726820685	0.09750	0.135340312128	0.15256	0.250292241573	0.03799	T	0.001503	0.00951	T	-0.515422	0.00468	T	-0.598649	0.12925	T	0.00639803055176525	0.00071	T	0.762524	0.40088	T	0.048276193	0.08389	0.056383055	0.10063	0.048276193	0.08389	0.056383055	0.10063	-4.102	0.28093	T	.	.	0.121	0.33778	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.802564	0.01101	0.050	0.80022372196091296	0.13009	0.01733	0.05477	N	AEFDBI	0.132796	0.25223	N	-1.38098534990577	0.02816	0.1249092	-1.50995618861323	0.02267	0.1040025	0.947761271341412	0.27768	0.653281	0.48532	0	0.59043	0.45803	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	3.14	-4.62	0.03129	-1.624000	0.02141	-3.403000	0.02813	-0.341000	0.05685	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.4358:0.152:0.4122	5.617	0.16718	824	0.40336	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.010870	0.023392	0.000000	0.025862	0.003049	0.003788	0.1667	2094.06	81	chr19	35513073	.	C	A	2094.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=374;ExcessHet=0.4139;FS=1.246;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=1.94;SOR=0.839	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1111,0,1066	4	0	2	0
chr19	38193759	38193759	A	G	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon18:c.A4819G:p.S1607G	.	446	1074	2	0	0	2	0.000930233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00460867682745	9.9e-05	.	0.0002	0	0	0	0	0.0003	0	0.0004	0.0001294	20	154602	rs368637137	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	6.285e-05	0.0001	0	0	0	0.0007	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.164e-05	6.721e-05	0.0001	8.878e-05	7.219e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	0.446	0.09101	T	0.393	0.15355	T	0.0	0.02946	B	0.0	0.01387	B	0.003652	0.34662	N	0.238359	0.999457	0.21167	N	0.255	0.09829	N	1.54	0.30133	T	-0.89	0.24026	N	0.109	0.09490	-1.0513	0.14036	T	0.038	0.16376	T	10	0.031085193	0.01240	T	0.004609	0.11409	T	0.077	0.22490	.	.	0.0934897674506	0.08844	0.15025385662640006	0.14947	0.139067938041	0.15679	0.476527452469	0.35580	T	0.01212	0.10705	T	-0.516831	0.00459	T	-0.674192	0.07343	T	0.0174527469797103	0.00482	T	0.525647	0.17278	T	0.04953011	0.08809	0.032916024	0.02102	0.04953011	0.08809	0.032916024	0.02102	-2.931	0.09457	T	.	.	0.053	0.00269	B	.	.	0.787996	0.11583	8.175	0.6131801193180052	0.06679	0.17083	0.19681	N	AEFDBI	.	.	.	-0.740289987552836	0.14899	0.7461336	-0.659935151521523	0.17966	0.9576816	0.999999923728151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.01	3.98	0.45383	1.476000	0.35028	5.090000	0.47345	-0.060000	0.16637	0.043000	0.21118	1.000000	0.68203	0.001000	0.02609	0.9057:0.0:0.0943:0.0	8.127	0.30166	628	0.65206	Signal-induced proliferation-associated 1-like protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000535	0.000000	0.000000	0.003268	0.000000	0.000000	0.000000	0.000000	0.1667	550.06	16	chr19	38193759	.	A	G	550.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.329;DP=125;ExcessHet=0.4139;FS=1.061;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.125;SOR=0.536	GT:AD:DP:GQ:PL	0/1:16,14:30:99:313,0,438	4	0	2	0
chr19	39173257	39173257	G	A	exonic	PAK4	.	nonsynonymous SNV	PAK4:NM_001014832:exon3:c.G544A:p.G182R,PAK4:NM_005884:exon4:c.G544A:p.G182R,PAK4:NM_001014831:exon5:c.G544A:p.G182R	.	401	1119	2	0	0	2	0.000892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.242284229121	0.0002	0.000399361	0.0006	0	0	0	0.0013	0.0002	0	0.0020	0.0001811	28	154602	rs376102097	0.0001	0.0001	9.086e-05	0.0001	0.0011	9.943e-05	9.351e-05	0.0009	0.0009	3.015e-05	0.0001	0	0	0.0002	0	4.713e-05	0.0001	0.0011	0.0002	0.0002	7.712e-05	0.0002	0.0014	0.0001	8.717e-05	0.0007	0.0005	0.0002	0	0.0001	0	0.0002	9.416e-05	0	5.883e-05	0	0.0014	0.328	0.13219	T	0.244	0.24123	T	1.0	0.90584	D	0.999	0.92359	D	0.000038	0.55875	D	0.122244	1	0.81001	D	1.995	0.54099	M	-0.52	0.70717	T	-2.62	0.56301	D	0.449	0.50418	-0.3239	0.74313	T	0.449	0.78390	T	10	0.08051765	0.13077	T	0.242284	0.88753	D	0.386	0.70276	0.31	0.28289	0.764866947981	0.76272	0.26301525943541015	0.26214	0.573917383262	0.53435	0.869096398354	0.92439	D	0.659672	0.89771	D	-0.148421	0.28558	T	-0.0265059	0.68600	D	0.293306320905685	0.24728	T	0.914809	0.69637	D	0.30030245	0.52932	0.20507929	0.44660	0.30030245	0.52931	0.20507929	0.44659	-3.294	0.13660	T	.	.	0.38	0.58428	A	.;.;.	.;.;.	4.499932	0.70371	25.5	0.99746638791158748	0.83927	0.98214	0.80602	D	AEFDBI	0.844561	0.76151	D	0.470187450096887	0.65357	4.812342	0.406594588094812	0.61973	4.405476	0.999999879094452	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.23	4.23	0.49319	5.362000	0.65850	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.138000	0.19872	0.0:0.0:1.0:0.0	14.159	0.64968	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001526	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.08333	444.83	36	chr19	39173257	.	G	A	444.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.297;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=0.448;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,22:47:99:455,0,557	5	0	1	0
chr19	39902311	39902311	T	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon9:c.A4517G:p.H1506R	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.00523230134847	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450354748	8.314e-07	6.842e-07	1.649e-06	0	1.06e-06	0	0	.	.	0	0	0	0	0	0	1.06e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.19660	T	.	.	.	.	.	.	0.037056	0.24448	N	0.413124	0.999743	0.20516	N	.	.	.	.	.	.	.	.	.	.	.	-0.5443	0.67001	T	0.451	0.78491	T	10	0.34752682	0.51685	T	0.00593	0.15460	T	.	.	.	.	0.402043589563	0.39814	.	.	.	.	0.600498318672	0.52974	T	0.025075	0.18822	T	-0.0441584	0.45330	T	-0.301207	0.44598	T	0.55669516052353	0.34730	D	0.69743	0.30707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32153	B	.	.	3.433101	0.47720	22.5	0.9592308261777267	0.28192	0.41978	0.26776	N	AEFI	0.586246	0.58436	D	0.0417734361192832	0.43765	2.663057	-0.100614187665997	0.35365	2.045217	8.09746487323884E-5	0.04552	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.66	2.66	0.30672	6.221000	0.72188	.	.	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.0:1.0	9.973	0.40936	754	0.51307	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	4209.06	93	chr19	39902311	.	T	C	4209.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.326;DP=493;ExcessHet=0.4139;FS=0.45;MLEAC=2;MLEAF=0.167;MQ=43.39;MQRankSum=3.94;QD=14.98;ReadPosRankSum=1.03;SOR=0.66	GT:AD:DP:GQ:PL	0/1:17,90:107:99:2352,0,346	4	0	2	0
chr19	40570649	40570649	C	G	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon33:c.C7240G:p.P2414A	.	422	1089	10	1	0	12	0.00547945	.	.	.	1238397	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	.	0.0123802	0.0266	0	0.0021	0.0006	0	0	0.0211	0.0806	0.005692	880	154602	rs370564309	0.0029	0.0029	0.0015	0.0042	0.0479	0.0028	0.0027	0.0466	0.0461	0.0001	6.444e-05	0	9.705e-05	0	0.0026	1.866e-05	0.0030	0.0479	0.0018	0.0018	0.0010	0.0027	0.0553	0.0016	0.0016	0.0498	0.0477	7.215e-05	0	0.0001	0	0.0002	0	0	2.942e-05	0.0014	0.0553	0.506	0.07594	T	0.161	0.31326	T	0.948	0.53620	P	0.428	0.45338	B	0.000018	0.62929	U	0.000000	0.940361	0.37295	D	2.015	0.55033	M	1.62	0.28189	T	-2.05	0.47008	N	0.353	0.40063	-1.0504	0.14285	T	0.065	0.26807	T	10	0.0021221638	0.00030	T	.	.	.	0.062	0.17934	0.197	0.10975	0.511735687887	0.50815	0.41942925782414403	0.41858	.	.	0.795201599598	0.81233	T	0.021368	0.52628	T	-0.498772	0.00581	T	-0.451243	0.27561	T	0.112559668653959	0.13688	T	0.668433	0.27736	T	0.20288366	0.42348	0.2552489	0.51205	0.2071935	0.42917	0.2552489	0.51204	-4.077	0.24950	T	.	.	0.092	0.19919	B	.;.;.;.	.;.;.;.	3.440752	0.47869	22.5	0.99093410635369361	0.52272	0.70368	0.34562	D	ALL	0.271846	0.38761	N	0.172267448461034	0.49869	3.182748	0.208348261760268	0.50309	3.224414	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	4.64	4.64	0.57399	1.761000	0.38070	.	.	0.467000	0.21759	0.008000	0.17931	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.033	0.71385	744	0.52588	.;.;.;.	.	.	.	.	.	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	0.004702	0.005155	0.000000	0.003521	0.000000	0.000000	0.003106	0.019084	0.08333	761.83	37	chr19	40570649	.	C	G	761.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=247;ExcessHet=0;FS=3.502;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.661;SOR=1.22	GT:AD:DP:GQ:PL	0/1:35,29:64:99:772,0,862	5	0	1	0
chr19	42249729	42249729	A	C	exonic	ERF	.	nonsynonymous SNV	ERF:NM_001301035:exon4:c.T158G:p.V53G,ERF:NM_001308402:exon4:c.T158G:p.V53G,ERF:NM_001312656:exon4:c.T158G:p.V53G,ERF:NM_006494:exon4:c.T383G:p.V128G	Chitayat syndrome, Autosomal dominant;Craniosynostosis 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	679667	Inborn_genetic_diseases|Craniosynostosis_syndrome	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.0479306554676	.	.	6.036e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs781452659	2.965e-05	2.941e-05	1.781e-05	4.165e-05	0.0005	2.234e-05	1.985e-05	0.0004	0.0003	0	0	0	0	0	0.0004	0	1.669e-05	0.0005	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.002	0.79402	D	0.988	0.62325	D	0.621	0.51426	P	0.017066	0.27816	N	0.325909	1	0.81001	D	2.02	0.55341	M	0.48	0.55945	T	-2.64	0.62630	D	0.441	0.56489	-0.7700	0.56857	T	0.180	0.52736	T	10	0.27994004	0.45568	T	0.047931	0.63147	D	0.282	0.59981	0.414	0.45216	0.498282089621	0.49464	0.6296733072706407	0.62901	1.55285992361	0.87930	0.593680799007	0.52013	T	0.696458	0.91221	D	-0.103252	0.35885	T	-0.092604	0.63965	T	0.459747018543215	0.31156	T	0.909809	0.68064	D	0.52291423	0.68427	0.37089854	0.62330	0.52291423	0.68428	0.37089854	0.62330	-1.13	0.01155	T	0.5640658994147699	0.63163	0.581	0.68086	P	.;.;.	.;.;.	4.886562	0.80184	27.3	0.99662676109903237	0.78074	0.99318	0.94422	D	AEFDBHCI	0.943026	0.94834	D	0.543604280442607	0.69691	5.393433	0.558827081192153	0.72015	5.743503	0.999999999999797	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	2.793000	0.47537	11.029000	0.85041	0.740000	0.86194	0.854000	0.30511	1.000000	0.68203	0.899000	0.43558	1.0:0.0:0.0:0.0	12.472	0.55132	769	0.49307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1668.83	41	chr19	42249729	.	A	C	1668.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.389;DP=333;ExcessHet=0;FS=8.181;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.858;SOR=0.292	GT:AD:DP:GQ:PL	0/1:76,65:141:99:1679,0,2071	5	0	1	0
chr19	43996098	43996098	A	G	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A241G:p.K81E,ZNF155:NM_001260487:exon5:c.A241G:p.K81E,ZNF155:NM_003445:exon5:c.A241G:p.K81E,ZNF155:NM_198089:exon5:c.A241G:p.K81E,ZNF155:NM_001260488:exon6:c.A274G:p.K92E	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00222054249645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.911e-07	6.84e-07	0	1.392e-06	9.056e-07	0	0	.	.	0	0	0	0	0	0	9.056e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.301	0.41239	T	0.444	0.35956	B	0.206	0.37138	B	.	.	.	.	1	0.08975	N	2.24	0.63355	M	5.24	0.05249	T	-2.46	0.55339	N	0.115	0.15187	-0.9606	0.39068	T	0.012	0.04463	T	9	0.08165121	0.13390	T	0.002221	0.04206	T	0.028	0.06331	0.256	0.19689	0.225215365344	0.22153	0.019248532276261384	0.01878	0.18156926869	0.20410	0.250811040401	0.03854	T	0.012409	0.10910	T	-0.325815	0.06433	T	-0.705787	0.05515	T	0.230512768577786	0.21975	T	0.788921	0.44827	T	0.15322691	0.34743	0.13742457	0.32847	0.15322691	0.34743	0.13742457	0.32847	-3.255	0.13164	T	.	.	0.076	0.15430	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.059496	0.26183	17.03	0.98245886224382173	0.39530	0.06116	0.12093	N	AEFBI	0.047297	0.07948	N	-0.887167868815243	0.11147	0.5363711	-0.995032165882247	0.09896	0.4950747	0.00210114611079077	0.09158	0.562547	0.31514	0	0.546412	0.12157	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.23	1.15	0.19876	0.075000	0.14547	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.7007:0.2993:0.0:0.0	5.261	0.14888	620	0.66037	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2143.06	47	chr19	43996098	.	A	G	2143.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.191;DP=342;ExcessHet=0.4139;FS=9.388;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.801;SOR=1.342	GT:AD:DP:GQ:PL	0/1:54,34:88:99:775,0,1385	4	0	2	0
chr19	43996828	43996828	G	A	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.G971A:p.S324N,ZNF155:NM_001260487:exon5:c.G971A:p.S324N,ZNF155:NM_003445:exon5:c.G971A:p.S324N,ZNF155:NM_198089:exon5:c.G971A:p.S324N,ZNF155:NM_001260488:exon6:c.G1004A:p.S335N	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00095530537603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.21385	T	0.182	0.33000	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.18	0.29980	L	3.13	0.08014	T	-1.13	0.29114	N	0.043	0.02366	-0.9841	0.34045	T	0.022	0.09330	T	9	0.080718964	0.13132	T	9.55E-4	0.00957	T	0.060	0.17295	0.541	0.65304	0.199424873507	0.19547	0.008337011806155724	0.00797	0.0311498456224	0.03231	0.360647916794	0.19480	T	0.002333	0.01729	T	-0.400597	0.02295	T	-0.813206	0.01594	T	0.0441108331335351	0.04441	T	0.562144	0.19728	T	0.083901346	0.19395	0.10380833	0.24917	0.083901346	0.19395	0.10380833	0.24917	-6.559	0.50739	T	.	.	0.297	0.54441	B	.;.;.;.	.;.;.;.	0.806430	0.11772	8.346	0.89604950688252505	0.18941	0.12294	0.17180	N	AEFBI	0.094160	0.19042	N	-0.906324995565478	0.10692	0.5122414	-1.02167153193883	0.09309	0.4624058	0.00245421374617525	0.09445	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.59	-1.77	0.07551	0.180000	0.16672	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.975000	0.56047	0.113:0.3218:0.5652:0.0	7.049	0.24240	620	0.66037	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	.	.	.	.	.	.	.	.	0.1667	5625.06	169	chr19	43996828	.	G	A	5625.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.045;DP=1081;ExcessHet=0.4139;FS=1.105;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=1.42;SOR=0.796	GT:AD:DP:GQ:PL	0/1:122,108:230:99:2689,0,3356	4	0	2	0
chr19	44132312	44132312	A	T	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon5:c.A1698T:p.R566S,ZNF225:NM_001321685:exon6:c.A1698T:p.R566S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0007	0.00579073	0.0041	0.0001	0.0007	0.0001	0.0003	0.0012	0.0022	0.0240	0.0035575	550	154602	rs183264537	0.0022	0.0022	0.0015	0.0029	0.0230	0.0022	0.0021	0.0221	0.0218	0.0001	0.0004	0.0017	5.04e-05	0.0005	0.0069	0.0009	0.0026	0.0230	0.0015	0.0015	0.0011	0.0019	0.0251	0.0013	0.0012	0.0215	0.0201	0.0001	0	0.0003	0.0023	0	0.0005	0.0102	0.0011	0.0014	0.0251	0.001	0.78490	D	0.0	0.92824	D	0.949	0.53761	P	0.719	0.54822	P	.	.	.	.	1	0.81001	D	1.515	0.38264	L	2.16	0.19166	T	-1.96	0.45404	N	0.127	0.12913	-1.0569	0.12543	T	0.079	0.31466	T	9	0.004302144	0.00087	T	.	.	.	0.054	0.15330	.	.	0.313210971179	0.30940	0.029882056873656238	0.02937	0.434351109688	0.43575	0.381959468126	0.22535	T	0.014165	0.12111	T	-0.568964	0.00225	T	-0.572468	0.15224	T	0.0614131835042637	0.07389	T	0.608739	0.23025	T	0.14984234	0.34141	0.20630753	0.44839	0.14984234	0.34141	0.20630753	0.44838	-7.151	0.55128	T	.	.	0.932	0.86453	P	.;.	.;.	2.171386	0.27671	17.54	0.99258111684314854	0.57121	0.48042	0.28118	N	AEFBCI	0.299817	0.40877	N	-0.352147202336826	0.27193	1.490012	-0.603015465912891	0.19415	1.041559	1.1580317453342E-4	0.05269	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.76	1.67	0.23149	-1.716000	0.01978	.	.	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.7499:0.0:0.2501:0.0	6.024	0.18872	625	0.65529	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.022727	0.1667	3964.06	38	chr19	44132312	.	A	T	3964.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.09;DP=454;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.7;SOR=0.699	GT:AD:DP:GQ:PL	0/1:74,83:157:99:2224,0,1892	4	0	2	0
chr19	45762047	45762047	G	T	exonic	MEIOSIN	.	nonsynonymous SNV	MEIOSIN:NM_001310124:exon13:c.G1543T:p.A515S	.	450	1070	2	0	0	2	0.000933707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0147686413498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.14456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.09	0.96627	D	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	0.071795076	0.10632	T	0.014769	0.35101	T	.	.	.	.	0.830697261641	0.82909	0.08066456423365446	0.08001	0.00140046893544	0.00121	.	.	.	0.010687	0.09625	T	-0.087692	0.38455	T	-0.36374	0.37620	T	.	.	.	0.290171	0.05279	T	0.023736823	0.01139	0.0665659	0.13653	0.023736823	0.01138	0.0665659	0.13653	-4.257	0.27570	T	.	.	0.094	0.14339	B	.	.	0.092933	0.04961	1.528	0.57877079141784937	0.05866	0.01987	0.06001	N	AEFBI	0.058823	0.11065	N	.	.	.	.	.	.	0.998682325740934	0.37455	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.6	-2.77	0.05529	-0.090000	0.11129	0.415000	0.18155	0.676000	0.76740	0.010000	0.18352	0.006000	0.19429	0.023000	0.12082	0.4594:0.1711:0.3695:0.0	4.887	0.13065	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	746.83	59	chr19	45762047	.	G	T	746.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.311;DP=328;ExcessHet=0;FS=2.667;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.961;SOR=0.392	GT:AD:DP:GQ:PL	0/1:17,28:45:99:757,0,417	5	0	1	0
chr19	45772673	45772673	G	C	exonic	DMPK	.	nonsynonymous SNV	DMPK:NM_001288765:exon8:c.C1045G:p.L349V,DMPK:NM_001081563:exon9:c.C1342G:p.L448V,DMPK:NM_001081560:exon10:c.C1297G:p.L433V,DMPK:NM_001081562:exon10:c.C1297G:p.L433V,DMPK:NM_001288766:exon10:c.C1297G:p.L433V,DMPK:NM_004409:exon10:c.C1312G:p.L438V,DMPK:NM_001288764:exon11:c.C1390G:p.L464V	Myotonic dystrophy 1, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0256614183035	.	.	8.417e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs544056738	5.062e-06	4.788e-06	5.743e-06	4.371e-06	3.693e-06	2.11e-06	1.35e-06	8.6e-07	5.8e-07	0	0	0	0	0	0	3.693e-06	5.253e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.28520	T	0.259	0.92824	T	0.001	0.07471	B	0.002	0.06944	B	0.604031	0.10930	N	0.740904	1	0.08975	N	0.98	0.24916	L	-0.19	0.66834	T	-0.78	0.21644	N	0.098	0.08646	-1.0189	0.24074	T	0.141	0.46054	T	10	0.058338642	0.06844	T	0.025661	0.48617	D	0.094	0.27141	0.052	0.00113	0.534572409765	0.53106	0.19857638901607969	0.19774	0.350907931514	0.36936	0.318869203329	0.13250	T	0.271329	0.64365	T	-0.258174	0.13114	T	-0.573228	0.15155	T	0.0255482745164667	0.01346	T	0.757724	0.38135	T	0.04215341	0.06341	0.037261162	0.03343	0.04215341	0.06341	0.037261162	0.03342	-3.932	0.24057	T	.	.	0.064	0.07697	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.071873	0.14545	11.11	0.85302105366081082	0.15808	0.05200	0.11024	N	AEFDBHCI	0.064609	0.12555	N	-1.02247285634358	0.08139	0.3805575	-1.08567839247144	0.07982	0.3904845	0.999991315584831	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.31	-0.312	0.12125	0.884000	0.27851	2.113000	0.30672	0.676000	0.76740	0.017000	0.19353	0.150000	0.23170	0.252000	0.23314	0.132:0.213:0.437:0.218	1.507	0.02338	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	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	1741.06	33	chr19	45772673	.	G	C	1741.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.95;DP=272;ExcessHet=0.4139;FS=1.374;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=1.1;SOR=0.551	GT:AD:DP:GQ:PL	0/1:22,46:68:99:1179,0,434	4	0	2	0
chr19	46230303	46230303	T	G	exonic	IGFL1	.	nonsynonymous SNV	IGFL1:NM_198541:exon3:c.T109G:p.C37G	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	.	0.0046	0.00239617	0.0054	0.0008	0.0054	0	0.0130	0.0072	0.0056	0.0004	0.0053492	827	154602	rs187146043	0.0063	0.0063	0.0065	0.0061	0.0068	0.0062	0.0062	0.0066	0.0066	0.0011	0.0053	0.0106	0	0.0131	0.0055	0.0068	0.0060	0.0004	0.0059	0.0059	0.0055	0.0063	0.0075	0.0056	0.0054	0.0069	0.0067	0.0014	0.0099	0.0075	0.0089	0	0.0137	0.0136	0.0074	0.0118	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.001585	0.38554	N	0.000000	0.99622	0.23082	N	2.425	0.70256	M	0.21	0.59983	T	-11.7	0.99521	D	0.825	0.82057	-0.8196	0.53959	T	0.239	0.60691	T	10	0.03723228	0.02065	T	.	.	.	0.305	0.62620	.	.	0.534191878353	0.53070	0.7802701728234529	0.77978	0.264189448403	0.28968	0.363673508167	0.19920	T	0.147273	0.48528	T	-0.228338	0.16869	T	-0.0959219	0.63711	T	0.104620483713118	0.12857	T	0.433257	0.11819	T	0.58172077	0.71702	0.445996	0.67729	0.58172077	0.71704	0.445996	0.67729	-0.636	0.00673	T	.	.	0.612	0.69362	P	.	.	3.179877	0.43155	21.7	0.95757085069908743	0.27739	0.61672	0.31553	D	AEFBI	0.111020	0.21995	N	-0.019034625594135	0.40994	2.444238	-0.182073642364267	0.32195	1.829285	0.372296116402908	0.19882	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.76	1.7	0.23359	1.028000	0.29734	2.071000	0.30443	-0.980000	0.01901	0.899000	0.31403	1.000000	0.68203	0.056000	0.15673	0.2656:0.0:0.0:0.7343	5.038	0.13787	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.020202	0.006793	0.002924	0.000000	0.008621	0.009146	0.000000	0.25	5689.03	39	chr19	46230303	.	T	G	5689.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.56;DP=540;ExcessHet=1.383;FS=2.458;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.074;SOR=0.902	GT:AD:DP:GQ:PL	0/1:79,63:142:99:1740,0,2047	3	0	3	0
chr19	46493986	46493986	G	C	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.C1480G:p.R494G	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171101678107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.17857	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.07	0.20387	T	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.06749013	0.09410	T	0.171102	0.84847	D	.	.	.	.	0.449283877778	0.44552	0.13604665218853548	0.13528	.	.	0.250925034285	0.03866	T	.	.	.	-0.351289	0.04646	T	-0.742379	0.03791	T	.	.	.	0.369563	0.08694	T	0.08700898	0.20245	0.10966447	0.26432	0.08700898	0.20245	0.10966447	0.26431	-3.724	0.19673	T	.	.	0.206	0.43158	B	.	.	1.416855	0.18331	13.68	0.92220851049580932	0.21594	0.01733	0.05477	N	AEFDBI	0.070376	0.13967	N	.	.	.	.	.	.	0.989160851410125	0.31742	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	1.86	0.725	0.17395	0.159000	0.16258	-0.921000	0.06919	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.0:0.3294:0.6706:0.0	5.998	0.18736	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	4079.03	39	chr19	46493986	.	G	C	4079.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.52;DP=507;ExcessHet=1.383;FS=1.673;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.054;SOR=0.792	GT:AD:DP:GQ:PL	0/1:56,67:123:99:1574,0,1307	3	0	3	0
chr19	49061735	49061735	G	A	exonic	NTF4	.	nonsynonymous SNV	NTF4:NM_006179:exon2:c.C263T:p.A88V	Glaucoma 1, open angle, 1O	1	1467	51	3	0	57	0.0190572	.	.	.	29056	not_provided|Glaucoma_1,_open_angle,_O|Intellectual_disability,_X-linked_99	MedGen:C3661900|MONDO:MONDO:0013134,MedGen:C2751294,OMIM:613100|MONDO:MONDO:0010487,MedGen:C3806746,OMIM:300919,Orphanet:777	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	.	0.0023	0.00579073	0.0059	0.0006	0.0021	0.0002	0	0.0041	0.0142	0.0215	0.0043143	667	154602	rs61732310	0.0034	0.0034	0.0029	0.0039	0.0178	0.0033	0.0033	0.0171	0.0168	0.0005	0.0017	0.0063	2.527e-05	0.0005	0.0163	0.0026	0.0040	0.0178	0.0025	0.0025	0.0024	0.0026	0.0189	0.0023	0.0022	0.0157	0.0146	0.0004	0.0121	0.0018	0.0055	0	0.0008	0.0136	0.0030	0.0038	0.0189	.	.	.	0.483	0.11795	T	0.999	0.77913	D	0.6	0.50752	P	0.130810	0.18645	N	0.405273	5.87488e-05	0.19238	A	-0.695	0.01866	N	-0.17	0.65563	T	.	.	.	0.324	0.36464	-0.9848	0.33879	T	0.090	0.34546	T	10	0.02159813	0.00520	T	.	.	.	.	.	.	.	0.779305911428	0.77726	0.24109617930085175	0.24023	.	.	0.545061886311	0.45161	T	0.224577	0.58905	T	-0.256087	0.13362	T	-0.126348	0.61278	T	0.0296463213828842	0.01935	T	0.638636	0.26756	T	0.10771276	0.25470	0.13080947	0.31424	0.1209873	0.28458	0.14495279	0.34394	-4.236	0.27270	T	0.10855820618084228	0.08962	0.118	0.25560	B	.;.	.;.	3.977641	0.58453	24.0	0.99798950836418121	0.88372	0.21620	0.21466	N	AEFDBHCI	0.117629	0.23034	N	-0.199531165461691	0.33154	1.877763	-0.223450324804954	0.30696	1.730661	0.999623941382992	0.41093	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.54	3.54	0.39650	1.654000	0.36950	6.452000	0.55675	0.614000	0.49286	0.954000	0.33273	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	11.307	0.48576	856	0.34373	.;.	.	.	.	.	.	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	0.011616	0.000000	0.017663	0.008772	0.050000	0.017241	0.018293	0.011364	0.08333	1736.83	33	chr19	49061735	.	G	A	1736.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.591;DP=333;ExcessHet=0;FS=1.321;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.01;SOR=0.865	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1747,0,1782	5	0	1	0
chr19	49154453	49154453	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.784_785insATGATG:p.D261_V262insDD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0056	0.0050	0.0009	0.0076	0.0002	0.0036	0.0050	0.0191	0.0001537	4	26028	rs541138770	0.0052	0.0052	0.0048	0.0057	0.0221	0.0051	0.0051	0.0212	0.0209	0.0056	0.0021	0.0085	0.0090	0.0005	0.0114	0.0040	0.0060	0.0221	0.0055	0.0056	0.0053	0.0057	0.0254	0.0052	0.0051	0.0214	0.0199	0.0060	0.0132	0.0026	0.0096	0.0105	0.0006	0	0.0047	0.0074	0.0254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5885.35	91	chr19	49154453	.	A	ACATCAT	5885.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.646;DP=442;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=31.81;ReadPosRankSum=0.516;SOR=0.594	GT:AD:DP:GQ:PL	0/1:0,19:42:99:1598,835,817	5	0	1	0
chr19	49417448	49417448	C	T	exonic	KASH5	.	nonsynonymous SNV	KASH5:NM_144688:exon20:c.C1627T:p.P543S	.	389	1132	1	0	0	1	0.000441501	.	.	.	3271921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00941353595875	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762561630	4.276e-05	4.378e-05	4.081e-05	4.477e-05	0.0002	3.38e-05	3.041e-05	3.67e-05	3e-05	0	0.0001	0	0	0	0.0002	4.345e-05	8.576e-05	3.777e-05	5.918e-05	5.911e-05	5.143e-05	6.731e-05	0.0002	3.08e-05	2.212e-05	5.295e-05	2.838e-05	0	0	0.0002	0	0	0	0	7.352e-05	0.0005	0	0.051	0.39334	T	0.298	0.20486	T	0.0	0.02946	B	0.0	0.01387	B	0.032344	0.25042	N	0.225687	0.998751	0.21933	N	.	.	.	1.56	0.29602	T	0.28	0.04233	N	0.079	0.05414	-1.0518	0.13899	T	0.048	0.20395	T	10	0.054239213	0.05744	T	0.009414	0.24670	T	0.054	0.15330	0.126	0.03173	0.486060746414	0.48238	0.11690251812454044	0.11618	0.147494882439	0.16644	0.441005140543	0.30714	T	0.012364	0.10881	T	-0.424633	0.01599	T	-0.62203	0.11027	T	0.143349230289459	0.16560	T	0.630137	0.24490	T	0.059803247	0.12196	0.102209106	0.24491	0.059803247	0.12196	0.102209106	0.24490	-3.698	0.19289	T	.	.	0.070	0.03515	B	.	.	2.358658	0.30252	18.38	0.97531395014602462	0.34459	0.50241	0.28617	D	AEFDBCI	0.102037	0.20479	N	-0.39730705857094	0.25565	1.388695	-0.262559640643002	0.29342	1.643123	0.971728051254021	0.29311	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.530356	0.10902	0	.	.	3.79	3.79	0.42757	1.857000	0.39038	4.660000	0.44233	0.597000	0.34315	0.873000	0.30851	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	11.929	0.52119	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000515	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1104.83	34	chr19	49417448	.	C	T	1104.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.75;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.487;SOR=0.788	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1115,0,1019	5	0	1	0
chr19	49960404	49960404	C	G	exonic	SIGLEC11	.	nonsynonymous SNV	SIGLEC11:NM_001135163:exon3:c.G478C:p.D160H,SIGLEC11:NM_052884:exon3:c.G478C:p.D160H	.	421	1077	24	0	0	24	0.0110193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0042	0.00499201	0.0061	0.0016	0.0021	0	0.0136	0.0066	0.0101	0.0091	0.005084	786	154602	rs144427989	0.0043	0.0060	0.0041	0.0045	0.0088	0.0042	0.0042	0.0074	0.0072	0.0016	0.0030	0.0011	5.038e-05	0.0131	0.0088	0.0039	0.0048	0.0079	0.0053	0.0055	0.0048	0.0059	0.0081	0.0050	0.0049	0.0060	0.0054	0.0017	0.0055	0.0058	0.0006	0	0.0135	0.0069	0.0061	0.0040	0.0081	0.055	0.38407	T	0.097	0.43721	T	0.995	0.67487	D	0.968	0.71741	D	0.003498	0.34874	N	0.201199	1	0.08975	N	1.865	0.49290	L	3.97	0.03326	T	-4.74	0.80172	D	0.345	0.38643	-1.0378	0.17985	T	0.017	0.07045	T	10	0.012047231	0.00260	T	.	.	.	0.048	0.13305	.	.	0.295623431141	0.29171	0.36662965196216724	0.36576	2.64688053248	0.98432	0.326464056969	0.14400	T	0.041299	0.25811	T	-0.598975	0.00148	T	-0.627048	0.10640	T	0.0569233820789417	0.06675	T	0.784422	0.42203	T	0.1315014	0.30649	0.15962303	0.37218	0.1315014	0.30649	0.15962303	0.37217	-7.643	0.58611	D	.	.	0.354	0.57853	A	.;.	.;.	1.953549	0.24815	16.54	0.97460583614966334	0.34079	0.02722	0.07384	N	AEFBI	0.042872	0.06705	N	-0.407654010782869	0.25201	1.366258	-0.710024294911404	0.16711	0.8853059	8.44641291639182E-4	0.07902	0.487112	0.14033	0	0.547309	0.14657	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.28	-1.9	0.07248	0.474000	0.21858	-1.144000	0.06200	0.596000	0.33519	0.002000	0.15269	0.000000	0.08366	0.012000	0.09680	0.0:0.3358:0.4057:0.2585	3.862	0.08508	681	0.59854	Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013815	0.000000	0.029973	0.004032	0.000000	0.000000	0.003067	0.011450	0.1667	4973.06	84	chr19	49960404	.	C	G	4973.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.572;DP=671;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.32;MQRankSum=-1.062;QD=10.65;ReadPosRankSum=2.88;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,68:253:99:0|1:49960404_C_G:2238,0,7463:49960404	4	0	2	0
chr19	51265852	51265852	C	A	exonic	SIGLECL1	.	nonsynonymous SNV	SIGLECL1:NM_001308437:exon3:c.C98A:p.A33E,SIGLECL1:NM_001385467:exon3:c.C98A:p.A33E,SIGLECL1:NM_001385465:exon4:c.C380A:p.A127E,SIGLECL1:NM_001385466:exon4:c.C380A:p.A127E,SIGLECL1:NM_173635:exon4:c.C380A:p.A127E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0054223422371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.015	0.61642	D	0.996	0.68779	D	0.891	0.63213	P	0.247752	0.03626	N	1.625570	1	0.08975	N	1.925	0.51371	L	1.64	0.38883	T	-2.55	0.55181	D	0.558	0.58287	-0.9957	0.31109	T	0.216	0.57849	T	10	0.1645289	0.30777	T	0.005422	0.13923	T	0.150	0.39571	0.533	0.64148	0.0846915920261	0.08053	0.17067518528169465	0.16987	0.426954359613	0.43058	0.240986034274	0.02880	T	0.262438	0.63401	T	-0.139658	0.29947	T	-0.438385	0.28990	T	0.301649779081345	0.25072	T	0.410359	0.10588	T	0.20308323	0.42374	0.18695302	0.41899	0.20308323	0.42374	0.18695302	0.41898	-13.447	0.91120	D	.	.	0.630	0.76371	P	.;.;.;.	.;.;.;.	1.339115	0.17456	13.17	0.95639872266499193	0.27436	0.03396	0.08508	N	AEFBI	0.034502	0.04283	N	-0.602918951853386	0.18856	0.9823353	-0.778475954164352	0.15022	0.7880084	1.30212227885361E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.38	0.863	0.18199	-0.366000	0.07616	.	.	-0.796000	0.03208	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5631:0.2137:0.2231	4.069	0.09352	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	.	.	.	.	.	.	.	.	0.08333	1003.83	60	chr19	51265852	.	C	A	1003.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.42;DP=295;ExcessHet=0;FS=4.783;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.242;SOR=1.315	GT:AD:DP:GQ:PL	0/1:32,38:70:99:1014,0,728	5	0	1	0
chr19	51704308	51704308	G	T	exonic	SPACA6	.	nonsynonymous SNV	SPACA6:NM_001316972:exon8:c.G769T:p.A257S,SPACA6:NM_001316994:exon8:c.G646T:p.A216S	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs112367898	0.0009	0.0004	0.0011	0.0007	0.0214	0.0008	0.0007	0.0187	0.0176	0.0214	0.0013	0	0	0	0.0017	4.428e-05	0.0022	0	0.0060	0.0060	0.0062	0.0058	0.0212	0.0056	0.0055	0.0200	0.0195	0.0212	0	0.0012	0	0	0	0	1.47e-05	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027697384	0.00043	T	.	.	.	.	.	.	.	.	.	0.15614568355325079	0.15535	.	.	.	.	.	0.009398	0.08559	T	.	.	.	.	.	.	.	.	.	0.294271	0.05429	T	0.028655265	0.02237	0.0609794	0.11703	0.028655265	0.02237	0.0609794	0.11702	-4.166	0.26257	T	.	.	0.092	0.13644	B	.	.	-0.244449	0.02871	0.407	0.67502602878749796	0.08374	0.07114	0.13139	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999999989	0.74766	0.075627	0.01787	0	0.073863	0.01883	0	0.067829	0.01913	2	0.143876	0.04018	0	0.053891	0.12063	4.03	0.764	0.17611	0.051000	0.14025	.	.	-0.980000	0.01901	0.022000	0.19841	0.000000	0.08366	0.002000	0.04165	0.3567:0.0:0.6433:0.0	5.556	0.16402	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	.	.	.	.	.	.	.	.	0.08333	349.83	39	chr19	51704308	.	G	T	349.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.081;DP=204;ExcessHet=0;FS=5.523;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.825;SOR=0.966	GT:AD:DP:GQ:PL	0/1:19,13:32:99:360,0,522	5	0	1	0
chr19	53165498	53165498	G	A	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon4:c.C992T:p.S331L,ZNF665:NM_024733:exon4:c.C992T:p.S331L,ZNF665:NM_001353457:exon5:c.C986T:p.S329L,ZNF665:NM_001353458:exon5:c.C1076T:p.S359L	.	.	.	.	.	.	.	.	.	.	.	2702231	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.00261188710475	0.0010	0.000399361	0.0005	0.0005	0.0002	0	0	0.0008	0	6.06e-05	0.0005821	90	154602	rs200045588	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0004	0.0002	7.652e-05	0	3.744e-05	0	0.0010	0.0006	9.275e-05	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0004	0.0007	0.0006	0.0005	0	0.0003	0	0	0	0	0.0009	0.0010	0.0002	0.028	0.46129	D	0.06	0.54541	T	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	1	0.08975	N	1.995	0.54099	M	4.68	0.36512	T	-5.5	0.85844	D	0.132	0.21710	-1.0703	0.09348	T	0.021	0.09009	T	9	0.049812794	0.04624	T	0.002612	0.05292	T	0.122	0.33800	.	.	0.48461828368	0.48093	0.02539323670896183	0.02490	0.139046298873	0.15679	0.346772074699	0.17445	T	0.066589	0.32983	T	-0.606921	0.00132	T	-0.650744	0.08903	T	0.0920859417425981	0.11462	T	0.720928	0.33404	T	0.23954272	0.46846	0.21967684	0.46716	0.23954272	0.46846	0.21967684	0.46715	.	.	.	.	.	0.576	0.67882	P	.;.	.;.	2.738413	0.35860	20.1	0.99523667409603511	0.69407	0.00381	0.01927	N	AEFBCI	0.047537	0.08015	N	-0.294747949258787	0.29350	1.626858	-0.631485244727295	0.18686	0.9993209	8.79051140840041E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.26	-0.104	0.12943	0.257000	0.18137	.	.	0.550000	0.28109	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2583:0.0:0.7417:0.0	6.922	0.23576	994	0.00715	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001057	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	1695.83	85	chr19	53165498	.	G	A	1695.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.714;DP=561;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.25;SOR=0.852	GT:AD:DP:GQ:PL	0/1:78,69:147:99:1706,0,2019	5	0	1	0
chr19	53483827	53483827	C	T	exonic	ZNF813	.	nonsynonymous SNV	ZNF813:NM_001004301:exon2:c.C5T:p.A2V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.689179508326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.004	0.76473	D	0.982	0.60036	D	0.743	0.55802	P	.	.	.	.	1	0.08975	N	1.215	0.30540	L	5.65	0.00784	T	-2.6	0.62343	D	0.1	0.08227	-0.8074	0.54706	T	0.005	0.01506	T	9	0.33430043	0.50606	T	0.68918	0.97438	D	0.025	0.05312	0.385	0.40460	0.148003135375	0.14442	0.07435378112532652	0.07371	1.75945580792	0.91105	0.425286769867	0.28564	T	0.017	0.14140	T	-0.231689	0.16426	T	-0.570581	0.15397	T	0.655984938144684	0.38720	D	0.89971	0.64861	D	0.12510775	0.29336	0.19219728	0.42720	0.12510775	0.29336	0.19219728	0.42719	-6.892	0.53240	T	.	.	0.190	0.58523	B	.;.	.;.	2.088215	0.26565	17.16	0.996325333951387	0.76142	0.00940	0.03632	N	AEFBI	0.029206	0.02714	N	-0.590221022432901	0.19240	1.005443	-0.846313819410115	0.13377	0.6935679	2.32167131152516E-5	0.03498	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	0.458	0.458	0.15882	0.330000	0.19460	.	.	0.446000	0.21189	0.308000	0.25396	0.000000	0.08366	0.036000	0.13842	0.0:0.9999:0.0:1.0E-4	6.627	0.22026	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	.	.	.	.	.	.	.	.	0.08333	2323.83	70	chr19	53483827	.	C	T	2323.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.179;DP=420;ExcessHet=0;FS=1.104;MLEAC=1;MLEAF=0.083;MQ=54.23;MQRankSum=1.36;QD=11.74;ReadPosRankSum=-0.504;SOR=0.605	GT:AD:DP:GQ:PL	0/1:111,87:198:99:2334,0,3040	5	0	1	0
chr19	53889918	53889918	C	A	exonic	PRKCG	.	nonsynonymous SNV	PRKCG:NM_001316329:exon5:c.C430A:p.R144S,PRKCG:NM_002739:exon5:c.C430A:p.R144S	Spinocerebellar ataxia 14, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.21112636273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.05881	T	0.683	0.15157	T	0.003	0.11197	B	0.022	0.19653	B	.	.	.	.	0.561973	0.32221	D	0.985	0.24966	L	-1.73	0.92508	D	-1.16	0.29727	N	0.433	0.47208	-0.2937	0.75161	T	0.476	0.79888	T	9	0.25493133	0.42878	T	0.211126	0.87288	D	0.222	0.51872	0.566	0.68768	0.795802369688	0.79389	0.7883656269140877	0.78788	1.64341078447	0.89404	0.577728331089	0.49766	T	0.090765	0.85234	T	0.044874	0.57680	T	-0.173318	0.57138	T	0.260306963395538	0.23328	T	0.874313	0.60664	D	0.20281671	0.42338	0.24809207	0.50353	0.20281671	0.42338	0.24809207	0.50352	-4.136	0.25819	T	0.09819995442897128	0.06994	0.177	0.39511	B	.;.;.;.	.;.;.;.	3.848360	0.55733	23.6	0.98499709983655581	0.42204	0.30674	0.24143	N	AEFDGBHCI	0.283481	0.39657	N	-0.472407965271318	0.22987	1.23132	-0.281272808146299	0.28715	1.603198	0.999999998067882	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.52208	0.10781	0	0.604944	0.38103	0	.	.	4.74	3.68	0.41359	1.934000	0.39793	.	.	0.597000	0.34315	0.968000	0.34134	1.000000	0.68203	0.998000	0.85391	0.178:0.6498:0.1721:0.0	8.279	0.31050	994	0.00715	.;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Diacylglycerol/phorbol-ester binding|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;Protein kinase C-like, phorbol ester/diacylglycerol-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	.	.	.	.	.	.	.	.	0.08333	399.83	35	chr19	53889918	.	C	A	399.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.16;DP=203;ExcessHet=0;FS=3.155;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.775;SOR=0.518	GT:AD:DP:GQ:PL	0/1:13,17:30:99:410,0,238	5	0	1	0
chr19	54336912	54336912	C	T	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.G1184A:p.C395Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.00540884723371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.003084	0.35449	N	0.000000	0.61571	0.30823	N	.	.	.	1.28	0.35960	T	-10.14	0.98893	D	0.688	0.69387	-0.4352	0.70890	T	0.326	0.69401	T	10	0.9769464	0.97503	D	0.005409	0.13893	T	0.230	0.53062	0.891	0.97367	0.139678290688	0.13603	0.8073630168348418	0.80691	0.559930976625	0.52535	0.391263246536	0.23848	T	.	.	.	0.0407799	0.57148	T	-0.179199	0.56597	T	0.99980217218399	0.99090	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.823	0.78403	P	.	.	4.714645	0.75770	26.4	0.98908404912692127	0.48327	0.13186	0.17713	N	AEFDBHCI	0.069284	0.13707	N	0.275340589559388	0.54901	3.654809	-0.040139925924855	0.37920	2.226867	1.30528051136978E-4	0.05386	0.554377	0.28877	0	0.187218	0.04217	2	0.315538	0.05692	2	0.567892	0.33627	0	.	.	2.51	1.46	0.21769	1.693000	0.37360	.	.	0.596000	0.33519	0.925000	0.32113	0.000000	0.08366	0.156000	0.20513	0.0:0.8308:0.0:0.1692	5.215	0.14658	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	.	.	.	.	.	.	.	.	0.08333	4622.83	376	chr19	54336912	.	C	T	4622.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.024;DP=1762;ExcessHet=0;FS=1.786;MLEAC=1;MLEAF=0.083;MQ=57.68;MQRankSum=7.86;QD=9.86;ReadPosRankSum=-3.705;SOR=0.616	GT:AD:DP:GQ:PL	0/1:281,188:469:99:4633,0,8205	5	0	1	0
chr19	54741995	54741995	-	GGGG	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	frameshift insertion	KIR2DS2:NM_001291695:exon3:c.86_87insGGGG:p.S30Gfs*39,KIR2DS2:NM_001291701:exon3:c.86_87insGGGG:p.S30Gfs*39,LOC102725023:NM_001360171:exon3:c.86_87insGGGG:p.S30Gfs*28,KIR2DS2:NM_012312:exon3:c.86_87insGGGG:p.S30Gfs*39,KIR2DS3:NM_012313:exon3:c.86_87insGGGG:p.S30Gfs*28,KIR2DL1:NM_014218:exon3:c.86_87insGGGG:p.P29fs,KIR2DL2:NM_014219:exon3:c.86_87insGGGG:p.S30Gfs*39,KIR2DL3:NM_015868:exon3:c.86_87insGGGG:p.S30Gfs*39	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32.79	175	chr19	54741995	.	C	CGGGG	32.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.892;DP=894;ExcessHet=0;FS=40.556;MLEAC=1;MLEAF=0.083;MQ=41.87;MQRankSum=-1.006;QD=0.26;ReadPosRankSum=1.72;SOR=5.38	GT:AD:DP:GQ:PL	0/1:117,11:137:43:43,0,4862	5	0	1	0
chr19	55482466	55482466	G	A	exonic	ZNF628	.	nonsynonymous SNV	ZNF628:NM_033113:exon3:c.G1273A:p.E425K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0553853875588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs941046659	6.918e-05	6.16e-05	6.909e-05	6.928e-05	8.27e-05	5.701e-05	5.316e-05	6.839e-05	6.301e-05	3.898e-05	0	0	0	0	0	8.27e-05	3.829e-05	0	3.969e-05	3.947e-05	6.463e-05	1.355e-05	5.906e-05	1.725e-05	1.136e-05	1.978e-05	1.128e-05	4.862e-05	0	0	0	0	0	0	5.906e-05	0	0	.	.	.	0.229	0.25210	T	.	.	.	.	.	.	0.007465	0.31378	U	0.129851	1	0.08975	N	0.55	0.14455	N	3.11	0.08194	T	.	.	.	0.32	0.36043	-0.9417	0.42346	T	0.013	0.05081	T	10	0.0839186	0.14010	T	0.055385	0.66214	D	0.035	0.08770	.	.	0.043077524339	0.03247	0.255330154629713	0.25447	.	.	0.941301345825	0.99504	D	0.001284	0.00766	T	-0.235847	0.15883	T	-0.576554	0.14854	T	0.088395856320858	0.11025	T	0.688631	0.29780	T	0.029287107	0.02398	0.07602174	0.16795	0.029287107	0.02398	0.07602174	0.16795	-5.519	0.42045	T	.	.	0.635	0.70329	P	.;.	.;.	2.203224	0.28101	17.69	0.89386621891578533	0.18753	0.11411	0.16616	N	AEFDBCI	0.041921	0.06437	N	-0.929251647655197	0.10163	0.4843265	-0.837747131907683	0.13582	0.705393	0.999582692326001	0.40607	0.660377	0.49826	0	0.694456	0.67091	0	0.535252	0.11790	0	0.528226	0.09195	0	.	.	4.12	3.08	0.34576	1.423000	0.34445	3.601000	0.39222	-0.331000	0.05774	0.971000	0.34370	0.999000	0.35428	0.020000	0.11549	0.1011:0.0:0.8989:0.0	10.266	0.42635	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	274.83	29	chr19	55482466	.	G	A	274.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.083;DP=104;ExcessHet=0;FS=10.139;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.458;SOR=2.008	GT:AD:DP:GQ:PL	0/1:17,9:26:99:285,0,512	5	0	1	0
chr19	56208993	56208993	G	C	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1284C:p.K428N	.	415	1077	29	1	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.00439297	0.0075	0.0012	0.0067	0	0.0023	0.0087	0.0068	0.0131	0.0069469	1074	154602	rs184245764	0.0087	0.0087	0.0085	0.0089	0.0123	0.0086	0.0085	0.0108	0.0105	0.0018	0.0048	0.0054	2.519e-05	0.0032	0.0123	0.0095	0.0090	0.0114	0.0064	0.0064	0.0066	0.0062	0.0130	0.0060	0.0059	0.0105	0.0095	0.0016	0.0175	0.0053	0.0063	0	0.0023	0.0068	0.0100	0.0067	0.0130	0.09	0.31987	T	0.232	0.24987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.19	0.07353	T	-1.2	0.30555	N	0.065	0.05162	-0.9619	0.38819	T	0.018	0.07282	T	6	0.0041446984	0.00082	T	.	.	.	0.007	0.00512	0.32	0.29902	0.0666544352282	0.05500	0.05525170380058242	0.05466	0.00738871656898	0.00648	.	.	.	0.004527	0.03938	T	-0.791495	0.00009	T	-0.899316	0.00508	T	0.00919239028083951	0.00116	T	0.80082	0.44648	T	0.049057763	0.08650	0.042417493	0.05048	0.049057763	0.08649	0.042417493	0.05048	-2.274	0.04415	T	.	.	0.843	0.80310	P	.;.	.;.	0.223470	0.06054	2.498	0.98700064067545512	0.44895	0.00311	0.01644	N	AEFDGBI	0.023980	0.01414	N	-0.905582697636106	0.10710	0.5131586	-1.13804793676242	0.06984	0.3380995	0.00302296144270454	0.09875	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	1.38	-1.27	0.08863	-4.396000	0.00275	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1788:0.4776:0.3435:0.0	4.086	0.09422	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	3433.83	132	chr19	56208993	.	G	C	3433.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.21;DP=555;ExcessHet=0;FS=0.455;MLEAC=1;MLEAF=0.083;MQ=59.41;MQRankSum=1.53;QD=13.47;ReadPosRankSum=1.05;SOR=0.743	GT:AD:DP:GQ:PL	0/1:130,125:255:99:3444,0,3318	5	0	1	0
chr19	56663996	56663996	G	C	exonic	ZNF835	.	nonsynonymous SNV	ZNF835:NM_001005850:exon2:c.C1203G:p.H401Q	.	427	1091	4	0	0	4	0.00182983	.	.	.	3636103	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00231271798795	7.7e-05	.	0.0002	0	8.705e-05	0	0	0.0001	0	0.0006	0.0001294	20	154602	rs375191518	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	5.976e-05	0.0002	0	0	0	0.0016	0.0001	0.0002	0.0006	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.733e-05	0.0002	0.0001	2.416e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.52	0.02557	N	3.19	0.07353	T	0.64	0.02368	N	0.034	0.00942	-0.9614	0.38916	T	0.007	0.02478	T	9	0.016917288	0.00358	T	0.002313	0.04452	T	0.016	0.02506	.	.	0.0846915920261	0.08053	0.02034217274919947	0.01987	.	.	0.562567353249	0.47629	T	4.77E-4	0.00170	T	-0.632362	0.00092	T	-0.80339	0.01819	T	0.0193237223496392	0.00638	T	0.114489	0.00870	T	0.042501718	0.06457	0.059183054	0.11065	0.042501718	0.06457	0.059183054	0.11064	-1.284	0.01376	T	.	.	0.683	0.72246	P	.	.	-0.287668	0.02672	0.343	0.28274101898320259	0.01444	0.02820	0.07555	N	AEFDBI	0.096752	0.19526	N	-1.48748533413555	0.01938	0.08506503	-1.52266587405782	0.02170	0.09941633	1.47355955073233E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.15	-1.69	0.07747	-4.084000	0.00338	.	.	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.173000	0.21076	0.2321:0.1689:0.4275:0.1715	1.180	0.01731	988	0.01987	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	.	.	.	.	.	.	.	.	0.08333	1026.83	34	chr19	56663996	.	G	C	1026.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.41;DP=267;ExcessHet=0;FS=5.342;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=-0.305;SOR=0.269	GT:AD:DP:GQ:PL	0/1:26,32:58:99:1037,0,664	5	0	1	0
chr19	57130494	57130494	C	T	exonic	USP29	.	stopgain	USP29:NM_020903:exon4:c.C1819T:p.Q607X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355509	0.86904	D	0.272887	0.86733	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	5.940136	0.94128	33	0.99004909371795924	0.50231	0.01424	0.04800	N	AEFBI	0.024033	0.01424	N	0.203001445343485	0.51343	3.316421	-0.192509463585646	0.31810	1.803779	2.50802172843305E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.53	2.53	0.29594	0.783000	0.26463	.	.	0.469000	0.21855	0.004000	0.16614	0.000000	0.08366	0.295000	0.24381	0.0:1.0:0.0:0.0	8.702	0.33491	952	0.10565	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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1343.83	91	chr19	57130494	.	C	T	1343.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.444;DP=447;ExcessHet=0;FS=3.922;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.161;SOR=0.392	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1354,0,1217	5	0	1	0
chr19	57916383	57916383	G	C	exonic	ZNF417	.	nonsynonymous SNV	ZNF417:NM_001297734:exon1:c.C29G:p.T10S,ZNF417:NM_152475:exon1:c.C29G:p.T10S	.	424	1091	7	0	0	7	0.00319781	.	.	.	705299	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0070	0.00479233	0.0072	0.0020	0.0017	0.0177	0.0155	0.0080	0.0089	0.0019	0.007115	1100	154602	rs146519620	0.0089	0.0089	0.0092	0.0087	0.0110	0.0088	0.0087	0.0102	0.0098	0.0018	0.0017	0.0009	0.0110	0.0125	0.0019	0.0100	0.0072	0.0027	0.0068	0.0068	0.0067	0.0069	0.0166	0.0065	0.0063	0.0138	0.0127	0.0020	0	0.0020	0.0012	0.0166	0.0134	0	0.0096	0.0047	0.0056	0.637	0.05046	T	0.932	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.19694	N	-1.33	0.00679	N	3.41	0.05574	T	0.29	0.04161	N	0.141	0.14054	-0.9145	0.46285	T	0.003	0.01092	T	9	0.0040403306	0.00079	T	.	.	.	0.012	0.01476	0.163	0.06730	0.221734844693	0.21761	0.04225834719548614	0.04170	.	.	0.465177088976	0.34019	T	0.001322	0.02166	T	-0.703322	0.00035	T	-0.767454	0.02853	T	0.00642501536434136	0.00071	T	0.00833667	0.00038	T	0.059754975	0.12180	0.05152348	0.08307	0.059754975	0.12180	0.05152348	0.08307	-2.413	0.05213	T	.	.	0.081	0.20313	B	.;.	.;.	0.411567	0.07823	4.518	0.22904005190390489	0.00943	0.01326	0.04577	N	ALL	0.041021	0.06181	N	-1.38757939138697	0.02753	0.1220436	-1.4236380656846	0.03017	0.1399422	0.999856282716645	0.44174	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	1.93	-0.389	0.11835	1.056000	0.30089	.	.	0.597000	0.34315	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.181:0.2821:0.5369:0.0	3.18	0.06188	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.08333	1992.83	33	chr19	57916383	.	G	C	1992.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.238;DP=347;ExcessHet=0;FS=1.235;MLEAC=1;MLEAF=0.083;MQ=59.95;MQRankSum=-1.915;QD=12.3;ReadPosRankSum=0.709;SOR=0.829	GT:AD:DP:GQ:PL	0/1:77,85:162:99:2003,0,1712	5	0	1	0
chr19	58417159	58417159	A	G	exonic	ZNF584	.	nonsynonymous SNV	ZNF584:NM_001363680:exon4:c.A506G:p.H169R,ZNF584:NM_173548:exon4:c.A641G:p.H214R	.	414	1101	7	0	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.0719061472969	0.0002	0.000599042	0.0005	0	0	0	0	0.0003	0.0011	0.0028	0.0004916	76	154602	rs149429599	0.0004	0.0004	0.0004	0.0005	0.0029	0.0004	0.0004	0.0026	0.0025	5.974e-05	6.711e-05	0	0	5.616e-05	0.0019	0.0003	0.0004	0.0029	0.0003	0.0003	0.0004	0.0003	0.0046	0.0003	0.0002	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	0.0004	0.0005	0.0046	0.04	0.42199	D	0.04	0.53426	D	0.998	0.73220	D	0.958	0.70027	D	.	.	.	.	0.997455	0.22652	N	2.65	0.77586	M	0.07	0.61677	T	-5.43	0.85323	D	0.184	0.19995	-0.3572	0.73345	T	0.345	0.71004	T	9	0.011146396	0.00245	T	0.071906	0.71392	D	0.287	0.60574	.	.	0.776359005846	0.77430	0.6237655610279504	0.62309	0.396773779796	0.40786	0.33080291748	0.15056	T	0.166681	0.51301	T	-0.390031	0.02689	T	-0.337645	0.40612	T	0.164711508338464	0.18213	T	0.348865	0.07732	T	0.342006	0.56439	0.40971482	0.65253	0.342006	0.56439	0.40971482	0.65253	-8.125	0.61919	D	.	.	0.305	0.53347	B	.;.	.;.	2.948223	0.39226	20.9	0.99515071391132726	0.68858	0.52256	0.29088	D	AEFBI	.	.	.	0.243456063168605	0.53315	3.501026	0.0768390299467812	0.43386	2.641452	0.810832668586966	0.24352	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.78	3.78	0.42629	-0.010000	0.12681	0.091000	0.14516	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.899000	0.43558	0.7854:0.0:0.0:0.2146	6.555	0.21652	929	0.16858	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1814.83	98	chr19	58417159	.	A	G	1814.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.485;DP=435;ExcessHet=0;FS=1.328;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.006;SOR=0.859	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1825,0,1737	5	0	1	0
chr20	3167845	3167845	T	A	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001367609:exon2:c.A26T:p.E9V	.	1257	263	1	1	0	3	0.00567108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00519169	.	.	.	.	.	.	.	.	0.0017289	45	26028	rs371609272	0.0013	0.0008	0.0013	0.0013	0.0228	0.0012	0.0012	0.0209	0.0201	0.0002	0	0.0144	0	0	0.0074	0.0007	0.0034	0.0228	0.0016	0.0016	0.0015	0.0017	0.0212	0.0014	0.0014	0.0178	0.0166	0.0001	0	0.0009	0.0138	0	0	0.0136	0.0010	0.0005	0.0212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	40.71	1	chr20	3167845	.	T	A	40.71	.	AC=2;AF=0.5;AN=4;DP=4;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=20.36;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	1	0	4
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	206.97	85	chr20	3803192	.	G	C	206.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.466;DP=611;ExcessHet=0.4139;FS=238.819;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.52;SOR=8.838	GT:AD:DP:GQ:PL	0/1:71,34:109:99:172,0,1172	1	0	2	3
chr20	18472891	18472891	A	G	exonic	POLR3F	.	nonsynonymous SNV	POLR3F:NM_001282526:exon3:c.A107G:p.K36R,POLR3F:NM_006466:exon3:c.A230G:p.K77R	.	440	1080	2	0	0	2	0.000925069	.	.	.	1897554	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0073204052741	.	.	0.0001	0	0.0002	0	0	0.0002	0	0	0.00011	17	154602	rs776454367	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	0.0001	0.0013	0.0010	0.0003	0.0002	0.0024	0	0	0.0022	6.057e-05	0.0003	0	0.0001	0.0001	0.0002	9.401e-05	0.0003	8.662e-05	7.254e-05	8.872e-05	5.283e-05	2.405e-05	0	0.0003	0.0014	0	0	0.0068	8.822e-05	0.0009	0	0.103	0.30097	T	0.358	0.17064	T	0.426	0.35504	B	0.21	0.37304	B	0.000000	0.84330	D	0.042828	1	0.81001	D	1.545	0.39105	L	.	.	.	-2.31	0.51319	N	0.606	0.62357	-0.8835	0.49480	T	0.180	0.52660	T	9	0.1310488	0.24941	T	0.00732	0.19415	T	0.173	0.43840	.	.	0.544037764837	0.54058	0.4643727639454928	0.46356	0.586708081011	0.54259	0.731309711933	0.71697	T	0.067437	0.33201	T	-0.0217955	0.48597	T	0.034045	0.72540	D	0.0682305159850144	0.08401	T	0.908709	0.67605	D	0.316567	0.54348	0.35166436	0.60757	0.316567	0.54348	0.35166436	0.60756	-3.747	0.20015	T	.	.	0.096	0.15251	B	.	.	4.277518	0.65129	24.8	0.99620687163175636	0.75413	0.99436	0.96005	D	AEBI	0.854353	0.77137	D	0.252264156714017	0.53750	3.542654	0.402353881758173	0.61713	4.375166	0.999998890081472	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.88	5.88	0.94564	8.582000	0.90577	11.134000	0.86880	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.302	0.82649	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1667	348.07	9	chr20	18472891	.	A	G	348.07	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.09;DP=126;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.565;SOR=0.631	GT:AD:DP:GQ:PL	0/1:9,11:20:99:235,0,231	4	0	2	0
chr20	20605250	20605250	C	T	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon15:c.G1963A:p.V655I	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	.	0.0004	0.0101837	0.0096	0.0009	0.0958	0	0	0.0002	0.0045	0.0017	0.0088744	1372	154602	rs142419151	0.0028	0.0028	0.0032	0.0024	0.0811	0.0027	0.0027	0.0789	0.0780	0.0010	0.0811	0	5.042e-05	1.873e-05	0	7.555e-05	0.0025	0.0020	0.0044	0.0044	0.0042	0.0047	0.0391	0.0042	0.0041	0.0365	0.0355	0.0014	0	0.0391	0	0.0002	9.423e-05	0	0.0001	0.0043	0.0004	0.02	0.49613	D	0.022	0.57587	D	0.998	0.73220	D	0.814	0.58796	P	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.66	0.77858	M	-3.85	0.95859	D	-0.39	0.13611	N	0.689	0.69474	0.207	0.86023	D	0.641	0.87442	D	10	0.0046809316	0.00098	T	.	.	.	0.582	0.83193	.	.	.	.	0.3620195778390234	0.36115	0.364196637899	0.38030	0.515447020531	0.40986	T	0.046296	0.27383	T	-0.15235	0.27944	T	0.0734686	0.75142	D	0.0514276189067211	0.05748	T	0.963304	0.86380	D	0.14902106	0.33993	0.12265614	0.29584	0.14902106	0.33993	0.12265614	0.29583	-8.242	0.62707	D	.	.	0.119	0.38924	B	.;.	.;.	5.192901	0.87098	29.1	0.99894319107785701	0.96742	0.93864	0.59412	D	AEFBCI	0.851844	0.76872	D	0.7047501733968	0.79945	7.186076	0.68050161549174	0.80900	7.402858	0.999999999548671	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	6.017000	0.52736	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.662000	0.33024	0.0:1.0:0.0:0.0	18.615	0.91254	460	0.78750	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3611.06	36	chr20	20605250	.	C	T	3611.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.12;DP=445;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.016;SOR=0.692	GT:AD:DP:GQ:PL	0/1:79,65:144:99:1611,0,1924	4	0	2	0
chr20	23086009	23086009	T	A	exonic	CD93	.	nonsynonymous SNV	CD93:NM_012072:exon1:c.A184T:p.T62S	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	.	0.00299521	0.0029	0	0.0004	0.0003	0	0	0.0031	0.0199	0.0019793	306	154602	rs200399999	0.0011	0.0011	0.0005	0.0016	0.0173	0.0010	0.0010	0.0165	0.0162	0	0	0	2.522e-05	0	0.0004	1.35e-05	0.0010	0.0173	0.0006	0.0006	0.0002	0.0009	0.0174	0.0005	0.0004	0.0144	0.0133	0	0	0	0	0	0	0	1.47e-05	0	0.0174	0.124	0.27426	T	0.212	0.26549	T	0.568	0.38507	P	0.229	0.38155	B	0.029597	0.25432	N	0.335554	0.934171	0.37079	D	1.335	0.33326	L	2.28	0.17271	T	-3.11	0.63669	D	0.208	0.23125	-1.0517	0.13926	T	0.029	0.12673	T	10	0.009301722	0.00210	T	.	.	.	0.043	0.11576	0.512	0.61000	0.506068822696	0.50244	0.7513044268119508	0.75077	0.181927384092	0.20455	0.435798406601	0.30002	T	0.219036	0.58192	T	-0.612161	0.00123	T	-0.638477	0.09780	T	0.0559079456287644	0.06509	T	0.552145	0.19060	T	0.13302822	0.30956	0.14809416	0.35020	0.13302822	0.30955	0.14809416	0.35019	-6.504	0.50317	T	.	.	0.259	0.49343	B	.	.	3.685521	0.52486	23.2	0.99222911408788894	0.55963	0.66854	0.33224	D	AEFDGBCIJ	0.375655	0.46010	N	-0.0119406354971464	0.41315	2.469032	0.0837261468908496	0.43731	2.668804	0.999999985983009	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.56214	0.19341	0	.	.	5.88	3.43	0.38372	2.504000	0.45076	4.854000	0.45404	0.660000	0.55035	0.992000	0.37556	1.000000	0.68203	0.854000	0.40426	0.247:0.0:0.1432:0.6097	6.670	0.22254	892	0.26670	C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.1667	2640.06	36	chr20	23086009	.	T	A	2640.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.82;DP=325;ExcessHet=0.4139;FS=1.849;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.436;SOR=0.663	GT:AD:DP:GQ:PL	0/1:40,54:94:99:1295,0,992	4	0	2	0
chr20	23493042	23493042	G	A	exonic	CST8	.	nonsynonymous SNV	CST8:NM_001281730:exon3:c.G316A:p.A106T,CST8:NM_005492:exon3:c.G316A:p.A106T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00272100613991	7.7e-05	.	0.0001	0	0	0	0	4.498e-05	0	0.0006	9.06e-05	14	154602	rs374838890	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	9.781e-05	0.0011	0.0008	0	0	3.827e-05	0	0	0.0019	6.396e-05	8.289e-05	0.0010	3.946e-05	3.941e-05	3.856e-05	4.042e-05	0.0002	1.717e-05	1.13e-05	1.972e-05	1.125e-05	2.416e-05	0	0	0	0	0	0	5.882e-05	0	0.0002	0.265	0.16305	T	0.238	0.24621	T	0.022	0.18677	B	0.009	0.14300	B	0.286808	0.03868	N	1.515170	1	0.08975	N	1.5	0.37844	L	1.77	0.25841	T	-0.59	0.17624	N	0.128	0.12198	-1.0320	0.19809	T	0.043	0.18576	T	10	0.028294206	0.00963	T	0.002721	0.05608	T	0.011	0.01250	.	.	0.104622674875	0.10061	0.14908900613425222	0.14830	0.00181570716921	0.00154	0.340989351273	0.16586	T	0.073552	0.34725	T	-0.549334	0.00294	T	-0.655771	0.08555	T	0.016346734734131	0.00404	T	0.320668	0.06474	T	0.038762882	0.05227	0.045202244	0.06031	0.038762882	0.05227	0.045202244	0.06031	-3.691	0.19185	T	.	.	0.071	0.04238	B	.;.	.;.	0.136433	0.05311	1.802	0.86259552429103714	0.16417	0.03992	0.09411	N	AEFBHCI	0.030644	0.03124	N	-1.34596819581022	0.03167	0.1410232	-1.41071143595939	0.03144	0.1460932	1.53192748259975E-4	0.05650	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	-2.25	0.06498	-0.467000	0.06741	-4.772000	0.01993	-0.683000	0.04200	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4629:0.0:0.3812:0.1559	4.346	0.10570	867	0.32089	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin 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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	1413.06	36	chr20	23493042	.	G	A	1413.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.961;DP=266;ExcessHet=0.4139;FS=0.669;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.079;SOR=0.709	GT:AD:DP:GQ:PL	0/1:41,25:66:99:586,0,997	4	0	2	0
chr20	32435669	32435669	A	G	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.A2774G:p.N925S,ASXL1:NM_015338:exon12:c.A2957G:p.N986S	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	0	1512	9	1	0	11	0.00362438	.	.	.	137318	not_provided|Bohring-Opitz_syndrome|ASXL1-related_disorder|Myelodysplastic_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0011510,MedGen:C0796232,OMIM:605039,Orphanet:97297|.|MONDO:MONDO:0018881,MeSH:D009190,MedGen:C3463824,OMIM:614286,Orphanet:52688|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00287937127919	0.0023	0.000399361	0.0013	9.615e-05	0.0008	0.0007	0	0.0019	0	0.0005	0.0013195	204	154602	rs145132837	0.0018	0.0018	0.0018	0.0018	0.0020	0.0017	0.0017	0.0020	0.0019	0.0003	0.0014	0.0044	0.0003	7.49e-05	0.0014	0.0020	0.0019	0.0005	0.0017	0.0017	0.0016	0.0018	0.0025	0.0015	0.0015	0.0022	0.0021	0.0001	0.0022	0.0025	0.0075	0.0012	0.0003	0.0034	0.0025	0.0014	0.0006	0.151	0.24857	T	0.845	0.03558	T	0.009	0.15093	B	0.005	0.11217	B	0.330902	0.14115	N	0.727897	1	0.08975	N	1.11	0.28643	L	1.87	0.24085	T	-0.56	0.17003	N	0.063	0.03726	-0.9985	0.30339	T	0.039	0.16978	T	10	0.0051077306	0.00111	T	0.002879	0.06074	T	0.020	0.03691	.	.	0.126345400529	0.12197	0.030680859498734895	0.03017	0.0534759902749	0.05892	0.282768934965	0.07882	T	0.055025	0.29890	T	-0.696376	0.00038	T	-0.777063	0.02543	T	0.000305340770864859	0.00002	T	0.680532	0.28920	T	0.017027032	0.00240	0.05065519	0.07992	0.015127004	0.00123	0.049534667	0.07589	-3.295	0.13673	T	.	.	0.077	0.08176	B	.;.;.;.;.	.;.;.;.;.	-1.336153	0.00408	0.008	0.93936370988142259	0.23988	0.16473	0.19405	N	AEFBCI	0.047949	0.08131	N	-1.08364839230901	0.06944	0.3211358	-1.12417870711987	0.07240	0.3514304	0.773234124788052	0.23708	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.66	-1.88	0.07294	-0.231000	0.09081	-4.290000	0.02235	-0.698000	0.04070	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.5541:0.0:0.4459:0.0	11.098	0.47378	519	0.74455	.;.;.;.;.	.	.	.	.	.	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	0.006042	0.005051	0.010870	0.000000	0.050000	0.000000	0.003049	0.003788	0.1667	4307.06	35	chr20	32435669	.	A	G	4307.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.23;DP=441;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.653;SOR=0.684	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1944,0,2044	4	0	2	0
chr20	32436667	32436667	C	T	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.C3772T:p.P1258S,ASXL1:NM_015338:exon12:c.C3955T:p.P1319S	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00234619182913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.05046	T	0.647	0.06812	T	0.051	0.22415	B	0.007	0.12992	B	0.202382	0.16567	N	0.652897	0.999991	0.08975	N	1.305	0.32671	L	2.62	0.13095	T	-1.06	0.27669	N	0.026	0.03392	-0.9583	0.39497	T	0.013	0.04938	T	10	0.057924688	0.06729	T	0.002346	0.04535	T	0.074	0.21613	0.15	0.05339	0.303781844768	0.29979	0.20936668306980485	0.20852	0.0586657663734	0.06507	0.30590519309	0.11288	T	0.061518	0.31675	T	-0.351967	0.04604	T	-0.743353	0.03751	T	0.0417370668123628	0.04006	T	0.69713	0.30670	T	0.02102082	0.00684	0.046230048	0.06399	0.02102082	0.00684	0.046230048	0.06398	-3.551	0.17153	T	.	.	0.095	0.19720	B	.;.;.;.;.	.;.;.;.;.	1.624040	0.20739	14.89	0.68307778012287201	0.08618	0.60874	0.31321	D	AEFDBCI	0.068982	0.13634	N	-0.655114491498599	0.17311	0.8897191	-0.496746223180536	0.22244	1.207208	0.848939423267093	0.25007	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.56	2.61	0.30255	0.923000	0.28364	2.640000	0.33748	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.259000	0.23493	0.1616:0.4635:0.1811:0.1938	1.485	0.02298	516	0.74704	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	2996.06	35	chr20	32436667	.	C	T	2996.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.251;DP=400;ExcessHet=0.4139;FS=3.014;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.011;SOR=0.892	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1274,0,1410	4	0	2	0
chr20	33083769	33083769	T	G	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon3:c.T572G:p.L191R	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0013	0.00459265	0.0047	0.0002	0.0009	0.0001	0	0.0022	0.0158	0.0237	0.0040297	623	154602	rs144272671	0.0027	0.0027	0.0020	0.0035	0.0228	0.0027	0.0026	0.0220	0.0216	0.0001	0.0008	0.0041	0.0001	0.0004	0.0223	0.0014	0.0036	0.0228	0.0017	0.0018	0.0012	0.0024	0.0227	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0008	0.0046	0.0006	0	0.0068	0.0016	0.0038	0.0227	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.419352	0.12891	N	0.672431	0.854418	0.35277	D	0.975	0.24501	L	4.9	0.01421	T	-0.7	0.19933	N	0.675	0.68255	-0.7879	0.55851	T	0.011	0.03903	T	10	0.005472988	0.00121	T	.	.	.	0.134	0.36365	.	.	0.437850553699	0.43404	0.6371477978752561	0.63648	0.427416486796	0.43086	0.647883415222	0.59685	T	0.00806	0.07418	T	-0.395404	0.02482	T	-0.323162	0.42226	T	0.0287560068156817	0.01800	T	0.717528	0.33029	T	0.3704387	0.58618	0.3850638	0.63432	0.3704387	0.58618	0.3850638	0.63432	-10.483	0.76749	D	.	.	0.627	0.69979	P	.	.	4.390380	0.67755	25.1	0.99700333214650194	0.80591	0.93071	0.57254	D	AEFDGBI	0.347638	0.44204	N	0.237604612350497	0.53029	3.473762	0.162506508952896	0.47808	3.005565	0.0105271983690197	0.12039	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	1.103000	0.30674	7.682000	0.65344	0.644000	0.52426	0.073000	0.22155	1.000000	0.68203	0.776000	0.36750	0.0:0.0:0.0:1.0	8.272	0.31011	101	0.95833	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	0.013092	0.000000	0.006793	0.011765	0.100000	0.008621	0.024390	0.011364	0.1667	1347.06	81	chr20	33083769	.	T	G	1347.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.69;DP=284;ExcessHet=0.4139;FS=5.351;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.168;SOR=1.246	GT:AD:DP:GQ:PL	0/1:25,15:40:99:426,0,724	4	0	2	0
chr20	33791036	33791036	G	A	exonic	ZNF341	.	nonsynonymous SNV	ZNF341:NM_001282935:exon14:c.G1814A:p.R605H,ZNF341:NM_001282933:exon15:c.G2084A:p.R695H,ZNF341:NM_032819:exon15:c.G2063A:p.R688H	.	413	1108	1	0	0	1	0.00045106	.	.	.	1544965	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.218	0.041523307382	.	0.000199681	0.0004	0	0.0004	0	0	4.624e-05	0.0011	0.0027	0.0003493	54	154602	rs548237921	0.0002	0.0002	8.716e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0018	0	0.0002	0	0.0001	0	0	1.709e-05	0.0001	0.0021	7.877e-05	7.874e-05	7.708e-05	8.055e-05	0.0012	4.493e-05	3.509e-05	0.0005	0.0004	0	0	0.0001	0	0.0002	0	0	4.41e-05	0	0.0012	0.181	0.21884	T	0.071	0.43531	T	0.999	0.77913	D	0.897	0.67350	P	0.000149	0.49130	D	0.134170	0.999359	0.46766	D	0.975	0.24501	L	0.14	0.60854	T	-2.01	0.46842	N	0.597	0.61596	-0.8231	0.53739	T	0.224	0.58792	T	10	0.04627958	0.03800	T	0.041523	0.59975	D	0.218	0.51265	0.521	0.62368	0.840929399852	0.83941	0.4898094758102553	0.48900	0.959823944306	0.72958	0.846923410892	0.89149	D	0.061897	0.31775	T	-0.359052	0.04184	T	-0.294078	0.45347	T	0.178346416977415	0.19130	T	0.771723	0.40231	T	0.04005627	0.05647	0.05085996	0.08067	0.04005627	0.05647	0.05085996	0.08066	-8.798	0.66387	D	.	.	0.534	0.70718	A	.;.	.;.	5.689925	0.93051	33	0.99947807668314459	0.99923	0.93417	0.58161	D	AEFDBCI	0.746548	0.68888	D	0.514632714167644	0.67956	5.151144	0.507147180693037	0.68471	5.224453	0.999994557930334	0.74766	0.614807	0.35715	0	0.53679	0.11191	0	0.616094	0.41390	0	0.528226	0.09195	0	.	.	4.39	3.42	0.38259	6.456000	0.73418	9.889000	0.82259	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0826:0.1463:0.7711:0.0	9.327	0.37159	244	0.90442	.;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	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	1903.06	33	chr20	33791036	.	G	A	1903.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.28;DP=302;ExcessHet=0.4139;FS=3.661;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.246;SOR=1	GT:AD:DP:GQ:PL	0/1:40,36:76:99:841,0,940	4	0	2	0
chr20	34076795	34076795	C	A	exonic	RALY	.	nonsynonymous SNV	RALY:NM_007367:exon6:c.C590A:p.A197E,RALY:NM_016732:exon7:c.C638A:p.A213E	.	423	1075	24	0	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0051	0.00339457	0.0096	0.0010	0.0012	0	0.0327	0.0103	0.0103	0.0134	0.008551	1322	154602	rs148075348	0.0076	0.0076	0.0075	0.0078	0.0140	0.0075	0.0075	0.0133	0.0130	0.0007	0.0017	0.0034	0	0.0323	0.0047	0.0068	0.0064	0.0140	0.0071	0.0071	0.0061	0.0081	0.0118	0.0068	0.0066	0.0093	0.0085	0.0010	0.0099	0.0041	0.0040	0	0.0358	0.0068	0.0075	0.0033	0.0118	1.0	0.12920	T	0.599	0.16570	T	0.0	0.02946	B	0.0	0.01387	B	0.001416	0.39109	N	0.244458	0.994676	0.23467	N	-2.135	0.00144	N	1.53	0.30401	T	1.18	0.01107	N	0.13	0.16725	-1.0155	0.25175	T	0.017	0.06759	T	10	0.0016791523	0.00021	T	.	.	.	0.057	0.16321	.	.	0.187035705434	0.18338	0.3971919153121041	0.39634	0.621268039398	0.56420	0.40137887001	0.25261	T	0.049339	0.28278	T	-0.53741	0.00347	T	-0.533052	0.18982	T	0.00179886548524983	0.00018	T	0.709529	0.33779	T	0.08320371	0.19204	0.1449199	0.34389	0.08320371	0.19204	0.1449199	0.34388	-5.046	0.37336	T	.	.	0.079	0.16713	B	.;.;.;.	.;.;.;.	1.151528	0.15394	11.82	0.66063386173952132	0.07950	0.13044	0.17631	N	AEFDGBCI	0.086631	0.17565	N	-0.911816212703854	0.10564	0.5054548	-0.691790987993765	0.17165	0.9115154	0.999739836270387	0.42341	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.44	3.13	0.35090	2.806000	0.47644	6.492000	0.55762	-0.306000	0.06133	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.6597:0.3403:0.0:0.0	12.228	0.53784	135	0.94622	.;.;.;.	.	.	.	.	rs148075348	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009577	0.005051	0.005435	0.014620	0.000000	0.025862	0.015337	0.011364	0.1667	1761.06	35	chr20	34076795	.	C	A	1761.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.25;DP=274;ExcessHet=0.4139;FS=1.4;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=1.13;SOR=0.544	GT:AD:DP:GQ:PL	0/1:25,27:52:99:755,0,590	4	0	2	0
chr20	37198448	37198448	C	G	exonic	RPN2	.	nonsynonymous SNV	RPN2:NM_001324299:exon3:c.C259G:p.L87V,RPN2:NM_001324301:exon3:c.C259G:p.L87V,RPN2:NM_001324302:exon3:c.C259G:p.L87V,RPN2:NM_001324303:exon3:c.C259G:p.L87V,RPN2:NM_001324304:exon3:c.C259G:p.L87V,RPN2:NM_001324305:exon3:c.C259G:p.L87V,RPN2:NM_002951:exon3:c.C259G:p.L87V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0103287833764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.25154	T	0.077	0.42436	T	0.243	0.30970	B	0.136	0.33270	B	0.000175	0.48594	D	0.141330	0.999417	0.81001	D	1.465	0.36909	L	0.89	0.45636	T	-0.71	0.21860	N	0.465	0.50146	-1.0652	0.10502	T	0.097	0.36419	T	10	0.35368067	0.52169	T	0.010329	0.26741	T	0.051	0.14325	0.682	0.81982	0.552615868945	0.54919	0.5223082908815949	0.52153	0.282424852503	0.30701	0.593450725079	0.51981	T	0.063561	0.32207	T	-0.159919	0.26773	T	-0.467489	0.25786	T	0.567760944366455	0.35149	D	0.89941	0.64770	D	0.111771375	0.26410	0.10968393	0.26437	0.111771375	0.26409	0.10968393	0.26436	-3.996	0.23744	T	.	.	0.083	0.20934	B	.;.	.;.	2.523405	0.32609	19.09	0.99266358720967462	0.57390	0.96148	0.67752	D	AEFDBI	0.449115	0.50407	N	0.0248324785575206	0.42985	2.60053	0.182657573791992	0.48896	3.09963	0.999989981043621	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	2.784000	0.47462	4.059000	0.41572	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.870000	0.41412	0.0:1.0:0.0:0.0	16.252	0.82316	352	0.85375	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3389.06	37	chr20	37198448	.	C	G	3389.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.401;DP=481;ExcessHet=0.4139;FS=4.471;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=1.2;SOR=0.487	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1544,0,2037	4	0	2	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	222.34	51	chr20	41100210	.	T	C	222.34	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.157;DP=255;ExcessHet=0.4139;FS=71.059;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.32;SOR=6.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,15:53:36:.:.:36,0,677:.	3	0	2	1
chr20	43566523	43566523	A	C	exonic	SGK2	.	nonsynonymous SNV	SGK2:NM_016276:exon1:c.A208C:p.S70R,SGK2:NM_001199264:exon2:c.A28C:p.S10R,SGK2:NM_170693:exon2:c.A28C:p.S10R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0265517296392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.237	0.29843	T	0.018	0.32767	B	0.021	0.28749	B	0.367953	0.04344	N	1.530280	0.619301	0.32691	D	0.895	0.22405	L	-0.57	0.71425	T	-0.92	0.32991	N	0.289	0.32701	-0.8588	0.51348	T	0.195	0.54884	T	10	0.19394857	0.42986	T	0.026552	0.49448	D	0.173	0.43840	0.206	0.12216	0.788914174019	0.78696	0.498051164515856	0.49726	0.255115430892	0.28099	0.464425474405	0.33916	T	0.118386	0.43917	T	-0.0116313	0.50036	T	-0.254484	0.49374	T	0.555326342582703	0.34678	D	0.753825	0.37593	T	0.1302686	0.30401	0.17129673	0.39302	0.1302686	0.30401	0.17129673	0.39301	-9.223	0.69121	D	.	.	0.259	0.49373	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.995237	0.40004	21.1	0.99106778923680516	0.52623	0.83433	0.42550	D	AEFBI	0.370340	0.45675	N	-0.361926627025461	0.26837	1.467717	-0.254788719182319	0.29605	1.660079	0.00453469863688006	0.10604	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.62	3.62	0.40616	3.553000	0.53459	3.826000	0.39973	0.756000	0.94297	0.975000	0.34726	0.996000	0.32793	0.619000	0.31870	1.0:0.0:0.0:0.0	8.924	0.34785	709	0.56835	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1079.06	34	chr20	43566523	.	A	C	1079.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.1;DP=275;ExcessHet=0.4139;FS=0.68;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=1.19;SOR=0.813	GT:AD:DP:GQ:PL	0/1:33,24:57:99:568,0,895	4	0	2	0
chr20	45891598	45891598	-	CTG	exonic	CTSA	.	nonframeshift insertion	CTSA:NM_000308:exon2:c.30_31insCTG:p.L19_V20insL,CTSA:NM_001127695:exon2:c.30_31insCTG:p.L19_V20insL,CTSA:NM_001167594:exon2:c.84_85insCTG:p.L37_V38insL	Galactosialidosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	621643	CTSA-related_disorder|not_specified|Combined_deficiency_of_sialidase_AND_beta_galactosidase|not_provided	.|MedGen:CN169374|MONDO:MONDO:0009737,MedGen:C0268233,OMIM:256540,Orphanet:351|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0059	0.0013	0.0035	0.0005	0.0020	0.0094	0.0028	0.0012	0.00011	17	154602	rs540291608	0.0059	0.0057	0.0060	0.0057	0.0067	0.0057	0.0057	0.0066	0.0066	0.0009	0.0025	0.0110	0.0007	0.0023	0.0035	0.0067	0.0055	0.0012	0.0046	0.0046	0.0051	0.0041	0.0078	0.0044	0.0042	0.0072	0.0070	0.0009	0	0.0038	0.0110	0.0011	0.0021	0.0034	0.0078	0.0029	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	8637.02	43	chr20	45891598	.	C	CCTG	8637.02	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.93;DP=304;ExcessHet=0;FS=0.692;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=28.27;ReadPosRankSum=1.2;SOR=0.801	GT:AD:DP:GQ:PL	0/1:2,27:61:99:2312,1208,1211	5	0	1	0
chr20	49096393	49096393	G	T	exonic	CSE1L	.	nonsynonymous SNV	CSE1L:NM_001256135:exon24:c.G2703T:p.Q901H,CSE1L:NM_001316:exon25:c.G2871T:p.Q957H	.	437	1018	65	2	0	69	0.0327791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0024	0.024361	0.0141	0.0010	0.0257	0.0359	0.0003	0.0038	0.0176	0.0501	0.0133828	2069	154602	rs35367415	0.0069	0.0069	0.0056	0.0082	0.0507	0.0068	0.0068	0.0494	0.0489	0.0005	0.0279	0.0068	0.0239	0.0004	0.0212	0.0024	0.0094	0.0507	0.0083	0.0083	0.0067	0.0100	0.0495	0.0079	0.0078	0.0443	0.0423	0.0007	0.0340	0.0349	0.0058	0.0390	9.422e-05	0.0102	0.0029	0.0038	0.0495	0.021	0.49117	D	0.114	0.36765	T	0.983	0.60381	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	0.84	0.47477	T	-1.65	0.40468	N	0.304	0.34336	-0.9840	0.34069	T	0.052	0.22037	T	10	0.0054074824	0.00119	T	.	.	.	0.179	0.44899	0.497	0.58678	.	.	0.5978688690700446	0.59717	0.889622572193	0.70165	0.793845057487	0.81027	T	0.195593	0.55171	T	-0.266501	0.12149	T	-0.118343	0.61938	T	0.0221931226238502	0.00931	T	0.954805	0.82790	D	0.2403951	0.46943	0.22393103	0.47289	0.2403951	0.46943	0.22393103	0.47288	-7.031	0.55689	T	.	.	0.197	0.41962	B	.;.	.;.	3.222032	0.43907	21.8	0.99774940421789449	0.86260	0.99146	0.91905	D	AEFDGBI	0.834112	0.75221	D	0.725296949977188	0.81291	7.487773	0.733458112093696	0.84919	8.427885	0.999992480145087	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.72	4.76	0.60189	6.490000	0.73552	3.450000	0.38440	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0704:0.0:0.9296:0.0	14.495	0.67264	888	0.27761	.;Exportin-2, C-terminal	.	.	.	.	rs35367415	Uncertain significance	0	0	0	0	0	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	0.000000	0.006793	0.005848	0.000000	0.008621	0.033537	0.015152	0.08333	1522.83	35	chr20	49096393	.	G	T	1522.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.255;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.078;SOR=0.693	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1533,0,1473	5	0	1	0
chr20	49257526	49257526	T	C	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon8:c.A2555G:p.E852G	.	423	1035	61	3	0	67	0.0313524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0022	0.0117812	0.0114	0.0007	0.0254	0.0005	0.0003	0.0038	0.0187	0.0489	0.0104785	1620	154602	rs61729993	0.0060	0.0060	0.0047	0.0073	0.0492	0.0059	0.0059	0.0480	0.0475	0.0004	0.0279	0.0069	0.0003	0.0004	0.0217	0.0023	0.0064	0.0492	0.0066	0.0067	0.0053	0.0081	0.0448	0.0063	0.0062	0.0399	0.0380	0.0006	0.0341	0.0345	0.0058	0.0006	9.455e-05	0.0102	0.0027	0.0028	0.0448	0.063	0.41096	T	0.33	0.18560	T	0.551	0.38139	P	0.173	0.35463	B	0.000223	0.47286	D	0.227351	0.999843	0.49770	D	2.405	0.69568	M	-1.93	0.86963	D	-1.46	0.45587	N	0.288	0.32591	-0.3997	0.72036	T	0.298	0.66942	T	10	0.0025114417	0.00038	T	.	.	.	0.317	0.63904	.	.	.	.	0.29978031344141376	0.29891	0.632512752951	0.57180	0.327229678631	0.14515	T	0.022836	0.78826	T	-0.313275	0.07462	T	-0.186269	0.55939	T	0.0239960551402502	0.01144	T	0.794521	0.43681	T	0.09753159	0.22990	0.081096716	0.18402	0.09753159	0.22990	0.081096716	0.18402	-4.766	0.34192	T	.	.	0.082	0.11027	B	.;.;.;.;.	.;.;.;.;.	3.335037	0.45925	22.2	0.99712483391067974	0.81423	0.89728	0.50381	D	AEFBCI	0.444547	0.50139	N	0.0644076902179102	0.44808	2.748149	0.172377636213799	0.48338	3.051171	0.999993072138066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.68	0.58319	2.780000	0.47429	3.446000	0.38414	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.128000	0.19490	0.1339:0.0:0.0:0.8661	12.454	0.55031	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	0.014099	0.000000	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.08333	2293.83	35	chr20	49257526	.	T	C	2293.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.734;DP=347;ExcessHet=0;FS=0.596;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.332;SOR=0.608	GT:AD:DP:GQ:PL	0/1:72,87:159:99:2304,0,1872	5	0	1	0
chr20	53581599	53581599	T	C	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon2:c.A1228G:p.M410V,ZNF217:NM_006526:exon2:c.A1228G:p.M410V	.	432	1009	76	5	0	86	0.0408745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0040	0.0131789	0.0112	0.0007	0.0050	0.0001	0.0044	0.0068	0.0166	0.0479	0.0100969	1561	154602	rs6068589	0.0080	0.0080	0.0066	0.0095	0.0474	0.0079	0.0078	0.0462	0.0457	0.0008	0.0044	0.0037	0.0001	0.0034	0.0350	0.0058	0.0079	0.0474	0.0056	0.0057	0.0051	0.0062	0.0436	0.0053	0.0052	0.0387	0.0369	0.0009	0	0.0040	0.0035	0.0002	0.0032	0.0238	0.0071	0.0066	0.0436	1.0	0.00964	T	0.373	0.16328	T	0.005	0.12996	B	0.004	0.10090	B	0.593015	0.05603	N	1.230860	1	0.08975	N	0.365	0.12025	N	3.16	0.07711	T	-0.44	0.14588	N	0.009	0.00252	-0.9525	0.40538	T	0.013	0.05225	T	10	0.0018404424	0.00025	T	.	.	.	0.014	0.01968	.	.	.	.	0.10227051858658619	0.10157	0.22842857525	0.25396	0.300081849098	0.10412	T	0.067626	0.33250	T	-0.707244	0.00033	T	-0.753646	0.03346	T	0.00367050087191358	0.00039	T	0.476852	0.14330	T	0.109267846	0.25833	0.07645901	0.16935	0.109267846	0.25833	0.07645901	0.16935	-2.293	0.04517	T	.	.	0.061	0.01092	B	.;.	.;.	-0.380819	0.02285	0.239	0.41343242720419293	0.02976	0.20278	0.20981	N	AEFDBHCI	0.079442	0.16045	N	-0.912887780753247	0.10540	0.5041327	-0.941171445694149	0.11128	0.5650487	0.999992307601255	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.97	-0.223	0.12472	-0.173000	0.09844	-0.621000	0.08173	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.324000	0.25064	0.2377:0.1261:0.0:0.6362	4.776	0.12551	991	0.01385	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020645	0.000000	0.014946	0.020468	0.000000	0.008621	0.021341	0.034091	0.1667	2562.06	34	chr20	53581599	.	T	C	2562.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.958;DP=305;ExcessHet=0.4139;FS=1.911;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.79;SOR=0.853	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1350,0,808	4	0	2	0
chr20	63696796	63696796	C	T	exonic	TNFRSF6B	.	nonsynonymous SNV	TNFRSF6B:NM_003823:exon1:c.C29T:p.S10L	.	.	.	.	.	.	.	.	.	.	.	1397879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.00430656416418	.	0.000199681	1.326e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs532783203	1.722e-05	1.71e-05	2.464e-05	9.7e-06	8.995e-05	1.182e-05	9.99e-06	2.383e-05	1.26e-05	8.995e-05	0	0	5.058e-05	0	0	1.715e-05	1.67e-05	0	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.193	0.20912	T	0.418	0.14200	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999996	0.08975	N	-0.205	0.04094	N	-0.43	0.69657	T	0.86	0.01712	N	0.126	0.11912	-1.0465	0.15389	T	0.091	0.34928	T	9	0.037451506	0.02100	T	0.004307	0.10467	T	0.062	0.17934	0.421	0.46365	0.330069100803	0.32608	0.5333946621762812	0.53264	0.0135471229173	0.01303	0.596802294254	0.52453	T	0.086904	0.37825	T	-0.22778	0.16943	T	-0.564967	0.15914	T	0.0286764129604986	0.01787	T	0.491951	0.15143	T	0.029355297	0.02416	0.04856538	0.07240	0.029355297	0.02416	0.04856538	0.07240	-1.756	0.02381	T	.	.	0.106	0.19720	B	.	.	-0.050260	0.03947	0.882	0.76841174183142891	0.11631	0.77018	0.37823	D	ALL	0.024388	0.01504	N	-1.90667961296007	0.00333	0.01428863	-1.96614624236022	0.00360	0.01592007	0.999999993099023	0.74766	0.652421	0.48094	0	0.611049	0.52481	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	1.85	-3.16	0.04897	-1.387000	0.02641	-2.979000	0.03172	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1235:0.4939:0.0:0.3825	6.189	0.19730	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	976.83	34	chr20	63696796	.	C	T	976.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.799;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.849;SOR=0.619	GT:AD:DP:GQ:PL	0/1:24,35:59:99:987,0,591	5	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	.	.	.	.	.	.	.	.	0.3333	11917.9	38	chr21	13610565	.	G	A	11917.9	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.59;DP=831;ExcessHet=0.1336;FS=1.126;MLEAC=4;MLEAF=0.333;MQ=54.23;MQRankSum=-8.187;QD=17.03;ReadPosRankSum=1.01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:126,123:249:99:3143,0,3011	3	1	2	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	0.3333	8563.94	38	chr21	13610631	.	A	G	8563.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.751;DP=725;ExcessHet=0.1336;FS=1.118;MLEAC=4;MLEAF=0.333;MQ=50.06;MQRankSum=-12.91;QD=14.42;ReadPosRankSum=1.09;SOR=0.811	GT:AD:DP:GQ:PL	0/1:126,89:215:99:2091,0,3260	3	1	2	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	4425.94	38	chr21	13641414	.	A	G	4425.94	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.306;DP=378;ExcessHet=0.1336;FS=4.391;MLEAC=4;MLEAF=0.333;MQ=57.89;MQRankSum=-0.838;QD=16.7;ReadPosRankSum=0.697;SOR=0.485	GT:AD:DP:GQ:PL	0/1:50,37:87:99:767,0,1308	3	1	2	0
chr21	36232966	36232966	A	G	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon15:c.A2513G:p.Y838C,DOP1B:NM_005128:exon15:c.A2513G:p.Y838C	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0048	0.00279553	0.0060	0.0009	0.0016	0	0.0224	0.0068	0.0088	0.0056	0.0057502	889	154602	rs142303619	0.0069	0.0069	0.0068	0.0070	0.0071	0.0068	0.0067	0.0070	0.0069	0.0009	0.0016	0.0020	0.0002	0.0204	0.0033	0.0071	0.0057	0.0060	0.0055	0.0055	0.0052	0.0058	0.0068	0.0052	0.0051	0.0063	0.0061	0.0012	0	0.0015	0.0029	0.0002	0.0238	0.0034	0.0068	0.0043	0.0056	0.146	0.25055	T	0.149	0.32568	T	0.998	0.73220	D	0.8	0.58175	P	0.009052	0.30540	N	0.380726	0.999998	0.08975	N	2.095	0.58118	M	-0.34	0.68474	T	-3.73	0.70920	D	0.408	0.44857	-0.7939	0.55502	T	0.248	0.61704	T	10	0.009080589	0.00205	T	.	.	.	0.221	0.51721	.	.	0.669206346033	0.66641	0.273427910411048	0.27255	0.233840886749	0.25922	0.475781321526	0.35477	T	0.082101	0.36751	T	-0.319322	0.06954	T	-0.225204	0.52235	T	0.0400255426204343	0.03695	T	0.915108	0.69728	D	0.1423712	0.32767	0.17213026	0.39445	0.1423712	0.32767	0.17213026	0.39444	-4.267	0.27712	T	.	.	0.092	0.13503	B	.	.	3.201824	0.43545	21.8	0.99663967705234013	0.78138	0.76600	0.37581	D	AEFGBI	0.129320	0.24745	N	0.341811299700431	0.58308	4.002344	0.299503923595694	0.55510	3.714028	0.793447337621975	0.24055	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.98	3.26	0.36471	2.632000	0.46177	2.747000	0.34506	0.756000	0.94297	0.985000	0.35982	0.408000	0.24745	0.860000	0.40782	0.7359:0.1316:0.1326:0.0	7.175	0.24917	934	0.15400	.	.	.	.	.	rs142303619	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003033	0.000000	0.001362	0.000000	0.000000	0.000000	0.006211	0.011364	0.08333	1564.83	34	chr21	36232966	.	A	G	1564.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.609;DP=292;ExcessHet=0;FS=3.333;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.465;SOR=0.425	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1575,0,1271	5	0	1	0
chr21	44426694	44426694	C	T	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320351:exon26:c.C3830T:p.T1277M,TRPM2:NM_003307:exon26:c.C3830T:p.T1277M,TRPM2:NM_001320350:exon27:c.C3980T:p.T1327M	.	407	1104	11	0	0	11	0.00495719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.22178622072	0.0004	0.000998403	0.0006	0.0002	0.0008	0.0008	0	0.0006	0	0.0011	0.0005757	89	154602	rs113563173	0.0004	0.0004	0.0004	0.0005	0.0076	0.0004	0.0004	0.0058	0.0052	0.0005	0.0007	3.826e-05	0.0003	1.873e-05	0.0076	0.0003	0.0009	0.0011	0.0005	0.0005	0.0006	0.0003	0.0010	0.0004	0.0003	0.0005	0.0004	0.0003	0	0.0008	0	0.0008	0	0.0136	0.0004	0.0019	0.0010	0.001	0.78490	D	0.002	0.83351	D	0.999	0.90584	D	0.88	0.62516	P	0.221408	0.16129	N	0.583692	0.934479	0.37089	D	3.475	0.92503	M	-1.03	0.76430	T	-2.44	0.53420	N	0.359	0.44666	0.506	0.90630	D	0.646	0.87649	D	10	0.03946188	0.02438	T	0.221786	0.87823	D	0.390	0.70603	.	.	0.630325304681	0.62730	0.6143187277833623	0.61363	0.503798904839	0.48685	0.352053284645	0.18224	T	0.503695	0.82308	D	-0.237676	0.15646	T	-0.164622	0.57934	T	0.0869636250316591	0.10854	T	0.910309	0.69895	D	0.22072016	0.44633	0.1598154	0.37254	0.22072016	0.44633	0.1598154	0.37253	-5.309	0.40032	T	.	.	0.093	0.51865	B	.;.;.;.;.	.;.;.;.;.	4.248401	0.64464	24.7	0.99869000167390265	0.94726	0.28874	0.23671	N	AEFGBI	0.265326	0.38248	N	0.269664161013558	0.54619	3.626926	0.0773127284115919	0.43410	2.643323	0.999999997526133	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.46	4.46	0.53567	0.995000	0.29307	5.686000	0.49316	0.596000	0.33519	0.001000	0.13787	1.000000	0.68203	0.016000	0.10718	0.0:1.0:0.0:0.0	16.075	0.80770	846	0.36215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.020468	0.000000	0.000000	0.000000	0.000000	0.08333	1283.83	33	chr21	44426694	.	C	T	1283.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.02;DP=263;ExcessHet=0;FS=1.689;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-1.439;SOR=0.961	GT:AD:DP:GQ:PL	0/1:42,53:95:99:1294,0,901	5	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	2818.02	35	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	2818.02	.	AC=5;AF=0.417;AN=12;DP=1123;ExcessHet=0.095;FS=2.852;MLEAC=5;MLEAF=0.417;MQ=59.79;QD=3.11;SOR=0.494	GT:AD:DP:GQ:PL	0/1:119,114:233:99:4288,0,4450	2	1	3	0
chr21	44666834	44666834	C	T	exonic	KRTAP12-2	.	nonsynonymous SNV	KRTAP12-2:NM_181684:exon1:c.G53A:p.S18N	.	430	1065	27	0	0	27	0.0125174	.	.	.	2821845	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.056	0.00279965897282	0.0009	0.000998403	0.0015	0	0.0004	0	0	0.0012	0.0023	0.0060	0.0001153	3	26028	rs143686476	0.0012	0.0012	0.0010	0.0014	0.0102	0.0011	0.0011	0.0082	0.0074	0.0003	0.0006	7.695e-05	2.525e-05	0	0.0102	0.0009	0.0018	0.0061	0.0008	0.0009	0.0008	0.0008	0.0044	0.0007	0.0007	0.0029	0.0025	0.0001	0	0.0008	0	0	0	0	0.0013	0.0009	0.0044	0.007	0.59928	D	0.007	0.69154	D	0.802	0.45105	P	0.267	0.39770	B	.	.	.	.	1	0.08975	N	2.6	0.76081	M	4.06	0.03063	T	-2.32	0.51478	N	0.216	0.24135	-1.0601	0.11731	T	0.021	0.09056	T	9	0.0064796507	0.00147	T	0.003	0.05840	T	0.056	0.15993	.	.	0.3085936734	0.30458	0.03833993704929642	0.03779	0.17694831345	0.19912	0.28999209404	0.08921	T	0.084317	0.37250	T	-0.651385	0.00071	T	-0.705834	0.05512	T	0.0356965933962838	0.02927	T	0.387161	0.09535	T	0.15285218	0.34677	0.12656856	0.30480	0.15285218	0.34676	0.12656856	0.30479	-8.93	0.67245	D	.	.	0.224	0.45569	B	.	.	0.839474	0.12109	8.663	0.94844240990002304	0.25637	0.06805	0.12829	N	AEFDBHCI	0.033163	0.03882	N	-0.434545504500228	0.24268	1.309094	-0.683018874357377	0.17385	0.9241925	0.104310765254257	0.16471	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.64	-0.657	0.10858	-0.514000	0.06382	-2.835000	0.03313	0.505000	0.23025	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.2521:0.216:0.5319:0.0	7.286	0.25516	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.009063	0.000000	0.009511	0.002924	0.000000	0.000000	0.021341	0.011364	0.1667	6481.06	220	chr21	44666834	.	C	T	6481.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.872;DP=844;ExcessHet=0.4139;FS=1.209;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=16;ReadPosRankSum=0.084;SOR=0.603	GT:AD:DP:GQ:PL	0/1:83,102:185:99:2987,0,3139	4	0	2	0
chr21	46155502	46155502	C	T	exonic	FTCD	.	nonsynonymous SNV	FTCD:NM_001320412:exon1:c.G22A:p.V8I,FTCD:NM_006657:exon1:c.G22A:p.V8I,FTCD:NM_206965:exon1:c.G22A:p.V8I	Glutamate formiminotransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1362217	Glutamate_formiminotransferase_deficiency	MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.540	0.205102397176	7.7e-05	.	4.174e-05	0	0.0002	0	0	1.527e-05	0	0.0001	3.23e-05	5	154602	rs368109014	1.985e-05	1.984e-05	2.452e-05	1.514e-05	8.961e-05	1.393e-05	1.204e-05	2.375e-05	1.258e-05	8.961e-05	4.472e-05	0	2.519e-05	0	0	1.889e-05	0	2.319e-05	3.941e-05	3.94e-05	2.568e-05	5.379e-05	0.0001	1.715e-05	1.129e-05	4.736e-05	3.052e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.039	0.54159	D	1.0	0.90584	D	1.0	0.97372	D	0.000006	0.62929	D	0.062738	1	0.81001	D	2.44	0.70756	M	-1.22	0.78752	T	-0.95	0.25332	N	0.422	0.47949	0.377	0.88753	D	0.655	0.88008	D	10	0.6359435	0.68782	D	0.205102	0.86967	D	0.540	0.80782	.	.	0.934349249237	0.93367	0.4036099885499357	0.40276	0.338721449428	0.35836	0.664568781853	0.62063	T	0.339063	0.70825	T	-0.0295116	0.47487	T	-0.0980209	0.63550	T	0.486384987831116	0.32132	T	0.950805	0.81930	D	0.59582305	0.72466	0.5860575	0.75993	0.59582305	0.72467	0.5860575	0.75994	-8.037	0.62392	D	0.41557348542969136	0.50517	0.205	0.43130	B	.;.;.;.	.;.;.;.	5.048842	0.84086	28.2	0.99843148186250918	0.92316	0.97981	0.78612	D	AEFDBHCI	0.913035	0.87448	D	0.762046020167309	0.83687	8.083103	0.714705931174994	0.83495	8.036643	1.0	0.98316	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.22	5.22	0.72285	5.875000	0.69407	7.443000	0.58891	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.756	0.91798	982	0.03397	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain;.;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain|Formiminotransferase catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	970.83	38	chr21	46155502	.	C	T	970.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.519;DP=294;ExcessHet=0;FS=2.991;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.329;SOR=1.075	GT:AD:DP:GQ:PL	0/1:38,41:79:99:981,0,954	5	0	1	0
chr22	17119423	17119423	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G1705A:p.V569I,TMEM121B:NM_001163079:exon2:c.G640A:p.V214I	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0022	0.00758786	0.0108	0.0005	0.0036	0.0101	0.0067	0.0077	0.0091	0.0319	0.0062483	966	154602	rs149370082	0.0049	0.0049	0.0042	0.0056	0.0258	0.0048	0.0048	0.0249	0.0245	0.0007	0.0022	0.0032	0.0148	0.0033	0.0185	0.0032	0.0059	0.0258	0.0037	0.0037	0.0033	0.0041	0.0216	0.0035	0.0034	0.0182	0.0169	0.0006	0	0.0034	0.0029	0.0068	0.0041	0.0272	0.0040	0.0099	0.0216	0.02	0.49613	D	0.06	0.63918	T	0.911	0.50336	P	0.562	0.49608	P	0.001714	0.38216	U	0.102509	0.999895	0.50595	D	.	.	.	.	.	.	-0.85	0.23156	N	0.35	0.39153	-0.8482	0.52093	T	0.112	0.40168	T	9	0.008572459	0.00194	T	.	.	.	0.119	0.33137	.	.	0.104622674875	0.10061	0.7604217329728664	0.75990	.	.	0.522731900215	0.42011	T	0.047421	0.27718	T	-0.327575	0.06297	T	-0.223718	0.52378	T	0.0359863368657486	0.02978	T	0.79582	0.43907	T	0.12873021	0.30087	0.100857474	0.24128	0.12873021	0.30087	0.100857474	0.24127	-3.944	0.28872	T	.	.	0.166	0.44872	B	.;.	.;.	3.672644	0.52235	23.2	0.9957284842646853	0.72501	0.86897	0.46282	D	AEFBCI	0.761208	0.69899	D	0.372332812103338	0.59927	4.17648	0.397399947182225	0.61403	4.340084	0.999999999999899	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.620976	0.48614	0	.	.	4.26	4.26	0.49832	5.151000	0.64720	5.885000	0.50690	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:1.0:0.0:0.0	16.210	0.81968	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.015152	0.012228	0.017544	0.000000	0.025862	0.015244	0.018939	0.08333	613.83	34	chr22	17119423	.	C	T	613.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.046;DP=233;ExcessHet=0;FS=7.142;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.541;SOR=1.211	GT:AD:DP:GQ:PL	0/1:29,27:56:99:624,0,705	5	0	1	0
chr22	17148464	17148464	T	A	exonic	HDHD5	.	nonsynonymous SNV	HDHD5:NM_017829:exon3:c.A337T:p.M113L,HDHD5:NM_033070:exon3:c.A427T:p.M143L	.	.	.	.	.	.	.	.	.	.	.	3266578	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00474408858729	.	.	4.945e-05	0	8.64e-05	0	0	7.499e-05	0	0	3.88e-05	6	154602	rs759011167	6.088e-05	6.088e-05	7.487e-05	4.675e-05	0.0003	5.028e-05	4.672e-05	6.094e-05	5.366e-05	0	2.236e-05	0	0	0	0.0003	7.105e-05	9.935e-05	1.159e-05	5.914e-05	5.91e-05	8.994e-05	2.69e-05	0.0001	3.078e-05	2.21e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0	0	0.715	0.03984	T	0.876	0.03259	T	0.0	0.02946	B	0.0	0.01387	B	0.013511	0.28818	N	0.353786	1	0.81001	D	.	.	.	2.18	0.18875	T	0.23	0.04613	N	0.14	0.15469	-0.9707	0.37052	T	0.011	0.04369	T	10	0.047970712	0.04185	T	0.004744	0.11816	T	0.014	0.01968	0.435	0.48664	0.0482279557977	0.04254	0.6596934463068606	0.65906	0.169480675496	0.19104	0.383811503649	0.22796	T	9.81E-4	0.00525	T	-0.436738	0.01352	T	-0.673438	0.07390	T	0.0150565688621154	0.00325	T	0.533147	0.17760	T	0.039301623	0.05401	0.038753387	0.03814	0.039301623	0.05401	0.038753387	0.03814	-1.234	0.01940	T	.	.	0.088	0.11510	B	.;.	.;.	1.075781	0.14584	11.15	0.47133583701802717	0.03830	0.84544	0.43627	D	AEFBI	0.401947	0.47623	N	-1.2576939924105	0.04199	0.1890668	-1.06688712054024	0.08359	0.4106377	0.115996972931822	0.16768	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.56	-0.062	0.13114	0.926000	0.28405	-0.245000	0.10556	-1.860000	0.00563	0.965000	0.33920	0.159000	0.23246	0.185000	0.21450	0.0:0.5395:0.2461:0.2144	6.220	0.19887	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	.	.	.	.	.	.	.	.	0.1667	2619.06	34	chr22	17148464	.	T	A	2619.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.528;DP=374;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.818;SOR=0.697	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1276,0,1294	4	0	2	0
chr22	18922842	18922842	G	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon6:c.C500A:p.T167N,LOC102724788:NM_001368249:exon6:c.C824A:p.T275N,LOC102724788:NM_001368250:exon6:c.C500A:p.T167N,PRODH:NM_016335:exon6:c.C824A:p.T275N	.	1	1438	83	0	0	83	0.02805	.	.	.	1159078	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0333	0.0720847	0.0579	0.0104	0.1609	0.1818	0.0085	0.0437	0.0444	0.0283	0.0576771	8917	154602	rs5747933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.07354	T	0.544	0.14961	T	0.372	0.34134	B	0.175	0.35598	B	0.065048	0.21909	N	0.496209	1	0.08975	P	.	.	.	1.43	0.32958	T	-0.27	0.12847	N	0.189	0.22998	-1.0145	0.25497	T	0.000	0.00039	T	9	0.0017009974	0.00021	T	.	.	.	0.021	0.04004	.	.	.	.	0.4946535748930686	0.49386	0.331359197874	0.35213	0.406710684299	0.26002	T	0.011657	0.16015	T	-0.651722	0.00071	T	-0.56511	0.15900	T	0.00372201777991252	0.00039	T	0.756224	0.37950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.38444	B	.;.;.;.;.	.;.;.;.;.	0.135227	0.05303	1.794	0.91944369770692291	0.21271	0.02689	0.07326	N	AEFBI	0.081638	0.16523	N	-0.749487469426016	0.14647	0.731409	-0.754882130175184	0.15603	0.821413	0.792135918401755	0.24033	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.18	0.756	0.17569	-0.000000	0.12910	-0.138000	0.11547	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.3838:0.0:0.6162:0.0	6.269	0.20150	929	0.16858	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;.	.	.	.	.	.	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	1	0	0.032226	0.035354	0.036685	0.026316	0.000000	0.025862	0.024390	0.030303	0.08333	1028.83	48	chr22	18922842	.	G	T	1028.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.088;DP=297;ExcessHet=0;FS=2.64;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.886;SOR=0.467	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1039,0,1390	5	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	0.5	9200.51	133	chr22	18925165	.	A	G	9200.51	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.433;DP=571;ExcessHet=0.095;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.332;SOR=0.723	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1589,0,1804	2	2	2	0
chr22	20858679	20858684	CCGCCT	-	exonic	PI4KA	.	nonframeshift deletion	PI4KA:NM_001362862:exon1:c.42_47del:p.G17_G18del,PI4KA:NM_001362863:exon1:c.42_47del:p.G17_G18del,PI4KA:NM_058004:exon1:c.42_47del:p.G17_G18del	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	87	1401	22	2	10	36	0.00919378	.	.	.	729046	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0034	0	0.0111	0	.	0.0099	0	0.0012	0.0003458	9	26028	rs532050128	0.0034	0.0034	0.0034	0.0034	0.0081	0.0033	0.0033	0.0072	0.0069	0.0081	0.0062	0.0169	0.0008	0.0006	0.0075	0.0032	0.0042	0.0012	0.0046	0.0047	0.0048	0.0044	0.0072	0.0044	0.0042	0.0065	0.0062	0.0072	0	0.0038	0.0168	0.0019	0.0002	0.0103	0.0038	0.0053	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	460.79	34	chr22	20858678	.	GCCGCCT	G	460.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.218;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.03;ReadPosRankSum=-0.297;SOR=0.836	GT:AD:DP:GQ:PL	0/1:11,12:23:99:471,0,420	5	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	476.86	15	chr22	21216084	.	C	T	476.86	.	AC=5;AF=0.5;AN=10;BaseQRankSum=2.43;DP=91;ExcessHet=6.1542;FS=2.197;MLEAC=5;MLEAF=0.5;MQ=46.55;MQRankSum=-2.17;QD=6.36;ReadPosRankSum=-0.144;SOR=1.08	GT:AD:DP:GQ:PL	0/1:15,5:20:99:99,0,380	0	0	5	1
chr22	21221866	21221866	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon8:c.G382A:p.G128R	.	367	1072	83	0	0	83	0.0372699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	.	.	0.0101	0.0015	0.0037	0.0001	0.0029	0.0088	0.0164	0.0331	0.0010373	27	26028	rs201167132	0.0033	0.0036	0.0033	0.0034	0.0057	0.0031	0.0031	0.0042	0.0038	0	0.0032	0.0150	4.759e-05	0.0013	0.0057	0.0034	0.0043	0.0053	0.0035	0.0055	0.0035	0.0035	0.0142	0.0032	0.0030	0.0107	0.0094	0.0007	0.0014	0.0034	0.0237	0.0006	0.0013	0.0254	0.0041	0.0046	0.0142	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999955	0.52396	D	.	.	.	2.16	0.19166	T	-6.12	0.90060	D	0.284	0.32148	-0.7560	0.57620	T	0.158	0.49076	T	6	0.01360032	0.00288	T	.	.	.	0.205	0.49236	0.762	0.89053	.	.	0.9514192744851678	0.95125	3.4416008843	0.99721	.	.	.	.	.	.	-0.084608	0.38964	T	-0.35931	0.38133	T	0.0540700048513329	0.06201	T	0.90231	0.65919	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.65132	A	.;.	.;.	1.949334	0.24760	16.52	0.99714884515000801	0.81633	0.95373	0.64467	D	AEFDBI	0.718415	0.66962	D	0.309555566560693	0.56638	3.828811	0.0371836120562764	0.41456	2.490915	0.148356361276714	0.17397	0.549168	0.22868	0	0.627178	0.54094	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	2.4	2.4	0.28568	6.258000	0.72447	7.360000	0.58341	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	8.346	0.31437	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	170.92	34	chr22	21221866	.	C	T	170.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.66;DP=298;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.95;MQRankSum=2.46;QD=1.1;ReadPosRankSum=1.09;SOR=0.705	GT:AD:DP:GQ:PL	0/1:91,11:102:1:1,0,2377	4	0	2	0
chr22	21629957	21629957	G	C	exonic	YDJC	.	nonsynonymous SNV	YDJC:NM_001017964:exon1:c.C58G:p.R20G,YDJC:NM_001371350:exon1:c.C58G:p.R20G	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0415179828463	0.0002	0.000199681	0.0004	0.0001	0.0006	0	0	0.0005	0	0.0003	0.0003105	48	154602	rs142465613	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0003	0.0004	0.0004	6.173e-05	0.0002	0	0	0.0002	0.0010	0.0004	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	7.216e-05	0	6.534e-05	0	0	0.0002	0	0.0004	0	0	0.032	0.44694	D	0.366	0.16668	T	0.753	0.43334	P	0.615	0.51231	P	0.023025	0.26520	N	0.327772	0.597908	0.32513	D	0.595	0.15482	N	1.24	0.36691	T	-2.52	0.54702	D	0.714	0.71942	-0.9993	0.30115	T	0.071	0.28936	T	10	0.1723808	0.32009	T	0.041518	0.59970	D	0.091	0.26358	.	.	0.104622674875	0.10061	0.8751734633928584	0.87484	1.46342036736	0.86395	0.837720036507	0.87746	D	0.007631	0.07024	T	-0.29745	0.08902	T	-0.339102	0.40445	T	0.0692916102731118	0.08552	T	0.90371	0.66210	D	0.63512576	0.74571	0.60444933	0.77009	0.63512576	0.74572	0.60444933	0.77010	-8.953	0.67394	D	.	.	0.224	0.45593	B	.;.	.;.	3.959629	0.58061	23.9	0.88405240804585583	0.17951	0.56824	0.30217	D	ALL	0.395135	0.47211	N	0.0181633586523325	0.42682	2.576254	0.118980662227392	0.45521	2.813722	0.999999999998032	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.44	4.44	0.53164	1.689000	0.37319	.	.	0.610000	0.48991	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	15.016	0.71249	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	.	.	.	.	.	.	.	.	0.1667	990.06	35	chr22	21629957	.	G	C	990.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.62;DP=245;ExcessHet=0.4139;FS=2.615;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=1.35;SOR=0.976	GT:AD:DP:GQ:PL	0/1:37,13:50:99:321,0,996	4	0	2	0
chr22	24623906	24623906	A	G	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon11:c.A1010G:p.D337G,GGT1:NM_013430:exon11:c.A1010G:p.D337G,GGT1:NM_013421:exon12:c.A1010G:p.D337G	.	472	1015	35	0	0	35	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00642018502782	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201278692	0.0001	0.0014	9.32e-05	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	0	0.0002	0.0011	0	7.524e-05	0.0005	5.962e-05	0.0001	0.0011	1.977e-05	0.0002	2.577e-05	1.349e-05	4.424e-05	5.26e-06	2.46e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.424e-05	0	0	0.042	0.45039	D	0.109	0.37449	T	0.003	0.11197	B	0.008	0.13708	B	0.026060	0.25985	U	0.393704	0.984754	0.24772	N	0.86	0.21358	L	3.06	0.08634	T	-2.81	0.59389	D	0.31	0.37923	-1.0345	0.19014	T	0.023	0.09787	T	10	0.16224849	0.30413	T	0.00642	0.16899	T	0.071	0.20720	.	.	0.221890330934	0.21812	0.7310437235026361	0.75440	.	.	0.432777583599	0.29587	T	0.174211	0.52335	T	-0.213582	0.18877	T	-0.544572	0.17850	T	0.226054698228836	0.21762	T	0.886611	0.61335	D	0.32057133	0.54688	0.22708768	0.47707	0.32057133	0.54688	0.22708768	0.47706	-7.992	0.61016	D	.	.	0.162	0.37558	B	.;.;.;.	.;.;.;.	2.344238	0.30048	18.32	0.96975519854809777	0.31839	0.76743	0.37663	D	AEFI	0.563045	0.57039	D	-0.572254272150079	0.19791	1.03857	-0.607656926219025	0.19295	1.034643	4.35844693757602E-4	0.06970	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	3.53	2.49	0.29274	3.351000	0.51947	4.330000	0.43024	0.725000	0.85415	0.220000	0.24536	0.114000	0.22828	0.481000	0.28588	0.8995:0.0:0.1005:0.0	8.022	0.29573	684	0.59539	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	163.06	28	chr22	24623906	.	A	G	163.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.334;DP=183;ExcessHet=0.4139;FS=4.767;MLEAC=2;MLEAF=0.167;MQ=46.22;MQRankSum=-2.983;QD=2.67;ReadPosRankSum=-1.292;SOR=1.525	GT:AD:DP:GQ:PL	0/1:29,7:36:99:106,0,821	4	0	2	0
chr22	30407134	30407134	A	G	exonic	SEC14L2	.	nonsynonymous SNV	SEC14L2:NM_001291932:exon3:c.A52G:p.I18V,SEC14L2:NM_012429:exon4:c.A214G:p.I72V,SEC14L2:NM_033382:exon4:c.A214G:p.I72V	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00386061897157	0.0005	0.000199681	0.0004	0.0003	0.0006	0	0	0.0006	0.0011	0	0.0004334	67	154602	rs140683265	0.0006	0.0006	0.0007	0.0006	0.0017	0.0006	0.0006	0.0009	0.0007	0.0002	0.0005	0	0	1.877e-05	0.0017	0.0008	0.0006	4.637e-05	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0006	0.0005	0.0004	0	0.0001	0	0	0	0	0.0007	0.0014	0	0.312	0.25355	T	0.399	0.17064	T	0.0	0.02946	B	0.0	0.04355	B	0.965498	0.07744	N	1.015360	1	0.08975	N	-0.725	0.01781	N	-0.14	0.65006	T	-0.52	0.17003	N	0.122	0.12055	-1.0390	0.17617	T	0.092	0.35065	T	10	0.019221574	0.00427	T	0.003861	0.09055	T	0.089	0.25827	.	.	0.481988042695	0.47829	0.34763929904002394	0.34677	.	.	0.262286782265	0.05165	T	0.033093	0.22767	T	-0.507525	0.00518	T	-0.59335	0.13378	T	0.00620187701461043	0.00069	T	0.0146319	0.00080	T	0.05577956	0.10886	0.035369635	0.02775	0.05577956	0.10886	0.035369635	0.02775	-4.824	0.35914	T	.	.	0.066	0.05145	B	.;.;.;.;.	.;.;.;.;.	0.466262	0.08360	5.111	0.83690425780190292	0.14865	0.06016	0.11981	N	AEFBI	0.099310	0.19993	N	-0.936070253052257	0.10007	0.4762261	-0.895333598441994	0.12203	0.6263994	0.833568530139735	0.24736	0.706548	0.73137	0	0.588066	0.40923	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	4.67	-1.66	0.07824	-0.594000	0.05828	0.218000	0.16040	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2032:0.244:0.2059:0.3469	0.279	0.00225	300	0.87974	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1239.83	33	chr22	30407134	.	A	G	1239.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.401;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.441;SOR=0.702	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1250,0,1158	5	0	1	0
chr22	30409454	30409454	C	T	exonic	SEC14L2	.	nonsynonymous SNV	SEC14L2:NM_001204204:exon5:c.C299T:p.P100L,SEC14L2:NM_001291932:exon6:c.C386T:p.P129L,SEC14L2:NM_012429:exon7:c.C548T:p.P183L,SEC14L2:NM_033382:exon7:c.C548T:p.P183L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.782	0.24738399617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.96	0.96509	H	-0.41	0.69413	T	-9.2	0.98244	D	0.989	0.99670	0.568	0.91475	D	0.640	0.87419	D	10	0.92882353	0.92225	D	0.247384	0.88967	D	0.782	0.92746	0.743	0.87486	0.891102082112	0.89002	0.8989134874145002	0.89863	.	.	0.639240205288	0.58456	T	0.852765	0.96664	D	0.404423	0.90167	D	0.343149	0.90044	D	0.999967217445374	0.99918	D	0.968203	0.95172	D	0.9758744	0.98780	0.94916356	0.98349	0.9758744	0.98780	0.94916356	0.98349	-15.775	0.97405	D	.	.	0.976	0.90342	P	.;.;.;.;.;.	.;.;.;.;.;.	5.185832	0.86964	29.1	0.99876896433954709	0.95410	0.99242	0.93326	D	AEFBI	0.919514	0.89015	D	0.744087842614015	0.82518	7.782728	0.720168168503257	0.83909	8.147346	0.999999999999962	0.74766	0.722319	0.85440	0	0.601575	0.49859	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.06	5.06	0.67838	7.507000	0.80548	7.699000	0.66186	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	18.202	0.89776	298	0.88068	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1030.83	34	chr22	30409454	.	C	T	1030.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.419;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.401;SOR=0.648	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1041,0,1115	5	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	81.06	133	chr22	36265782	.	G	T	81.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.59;DP=740;ExcessHet=0.4139;FS=125.08;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=2.17;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,13:125:43:0|1:36265782_G_T:43,0,4390:36265782	4	0	2	0
chr22	36265788	36265788	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G898T:p.V300L,APOL1:NM_001362927:exon5:c.G898T:p.V300L,APOL1:NM_001136540:exon6:c.G952T:p.V318L,APOL1:NM_003661:exon6:c.G952T:p.V318L,APOL1:NM_145343:exon7:c.G1000T:p.V334L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00139699107648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.252	0.36497	T	0.606	0.42139	P	0.287	0.41149	B	0.021435	0.26835	N	0.339041	1	0.08975	N	1.37	0.34214	L	3.34	0.06063	T	-2.1	0.47852	N	0.136	0.16028	-1.0577	0.12337	T	0.023	0.09604	T	10	0.42974234	0.57411	T	0.001397	0.02062	T	0.080	0.23350	0.79	0.91217	0.240491677333	0.23641	0.16720390685349407	0.16640	0.0932440907833	0.10540	0.259988605976	0.04889	T	0.018626	0.14980	T	-0.263696	0.12470	T	-0.616557	0.11457	T	0.400632858276367	0.28965	T	0.920908	0.71352	D	0.070749275	0.15611	0.06919031	0.14548	0.070749275	0.15611	0.06919031	0.14547	-3.674	0.18935	T	.	.	0.165	0.38354	B	.;.;.;.;.	.;.;.;.;.	-0.075038	0.03791	0.800	0.85417854666260362	0.15880	0.03431	0.08564	N	AEFDBI	0.283787	0.39681	N	-0.964199435183247	0.09377	0.4435163	-1.15603712399998	0.06660	0.3213267	0.433606993183405	0.20394	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-0.39	0.11830	-0.264000	0.08683	-2.056000	0.04279	-2.667000	0.00218	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2601:0.0:0.7399:0.0	7.931	0.29068	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	37.83	133	chr22	36265788	.	G	T	37.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.41;DP=729;ExcessHet=0;FS=39.168;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=2.58;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,13:123:48:0|1:36265782_G_T:48,0,4469:36265782	5	0	1	0
chr22	41925447	41925447	G	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon3:c.C475T:p.H159Y	Immunodeficiency, common variable, 4, Autosomal recessive	1	1457	58	6	0	70	0.0234584	.	.	.	433980	Immunodeficiency,_common_variable,_4|not_provided	MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.170	.	0.0052	0.00339457	0.0056	0.0022	0.0075	0	0.0025	0.0068	0.0113	0.0056	0.0054462	842	154602	rs61756766	0.0058	0.0058	0.0056	0.0060	0.0175	0.0057	0.0057	0.0148	0.0137	0.0010	0.0071	0.0047	0	0.0028	0.0175	0.0063	0.0063	0.0053	0.0058	0.0058	0.0062	0.0054	0.0114	0.0055	0.0054	0.0100	0.0095	0.0014	0	0.0114	0.0049	0	0.0024	0.0102	0.0082	0.0123	0.0042	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.782	0.57384	P	0.000050	0.53742	D	0.000000	0.977083	0.39334	D	1.845	0.48678	L	1.12	0.38718	T	-5.5	0.85844	D	0.577	0.59901	-0.9272	0.44545	T	0.107	0.39027	T	10	0.008018851	0.00182	T	.	.	.	0.170	0.43303	.	.	0.171220215726	0.16700	0.24987367141535083	0.24901	2.05243479993	0.94345	0.620077431202	0.55740	T	0.719618	0.92065	D	-0.243223	0.14939	T	-0.114188	0.62276	T	0.0335856785113751	0.02568	T	0.572743	0.20478	T	0.809143	0.84497	0.7438588	0.84860	0.809143	0.84498	0.7438588	0.84861	-5.305	0.39993	T	0.7740092395808532	0.85470	0.357	0.57003	A	.	.	4.121410	0.61610	24.4	0.99719896673004715	0.81984	0.79281	0.39256	D	AEFDGBCI	0.531585	0.55180	D	0.494203397348341	0.66748	4.990736	0.518743897306911	0.69252	5.333989	0.999999999999299	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	3.829000	0.55461	11.413000	0.92696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0:0.0:1.0:0.0	14.897	0.70291	130	0.94779	.	.	.	.	.	rs61756766	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	0.019134	0.025253	0.021798	0.032353	0.000000	0.008621	0.009146	0.011364	0.1667	1406.06	40	chr22	41925447	.	G	A	1406.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.489;DP=267;ExcessHet=0.4139;FS=0.7;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.441;SOR=0.823	GT:AD:DP:GQ:PL	0/1:27,28:55:99:642,0,668	4	0	2	0
chr22	44285554	44285554	G	A	exonic	SHISAL1	.	nonsynonymous SNV	SHISAL1:NM_001099294:exon4:c.C473T:p.P158L	.	436	1071	13	0	2	15	0.00603248	.	.	.	2689837	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0192076702439	.	.	9.563e-05	0	0.0004	0.0001	0	4.796e-05	0.0012	6.146e-05	7.76e-05	12	154602	rs767868598	6.038e-05	6.177e-05	5.728e-05	6.35e-05	0.0005	4.984e-05	4.588e-05	0.0003	0.0003	3.013e-05	0.0005	7.841e-05	5.043e-05	0	0.0004	3.143e-05	0.0002	0.0001	6.8e-05	6.796e-05	6.646e-05	6.961e-05	0.0003	3.632e-05	2.8e-05	0.0001	8.606e-05	2.436e-05	0	0.0003	0	0.0002	0	0	3.095e-05	0.0005	0	0.01	0.56456	D	0.041	0.50514	D	0.981	0.59675	D	0.565	0.49728	P	0.114848	0.19258	N	0.507205	.	.	.	.	.	.	.	.	.	-3.79	0.71639	D	0.178	0.19190	-0.8752	0.50135	T	0.088	0.34078	T	8	0.1883755	0.34389	T	0.019208	0.41510	T	0.127	0.34888	0.371	0.38176	0.123314135267	0.11883	0.2629037829114297	0.26203	0.357203365156	0.37449	0.669582724571	0.62779	T	0.162553	0.50727	T	-0.334636	0.05769	T	-0.396492	0.33792	T	0.125651061534882	0.14974	T	0.679332	0.28809	T	0.11533778	0.27219	0.1503445	0.35461	0.11533778	0.27219	0.1503445	0.35460	-5.059	0.37473	T	.	.	0.091	0.13174	B	.	.	3.271802	0.44790	22.0	0.99296953534778865	0.58469	0.90934	0.52539	D	AEFBI	0.217103	0.34227	N	0.0572122760461071	0.44476	2.720866	0.0133742287690538	0.40336	2.405525	0.977804808150122	0.29857	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.04	4.04	0.46262	2.331000	0.43552	5.291000	0.48208	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.038000	0.14061	0.0:0.0:0.7697:0.2303	9.404	0.37614	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1166.83	35	chr22	44285554	.	G	A	1166.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.41;DP=261;ExcessHet=0;FS=0.826;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.775;SOR=0.598	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1177,0,990	5	0	1	0
chr22	50178214	50178214	C	T	exonic	PANX2	.	nonsynonymous SNV	PANX2:NM_001160300:exon2:c.C1502T:p.P501L,PANX2:NM_052839:exon2:c.C1502T:p.P501L	.	592	928	1	1	0	3	0.00161377	.	.	.	2197252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.112556323462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0054	0.0001	0.0001	0.0047	0.0045	0	0	0	0.0054	0	0.0008	9.504e-07	0	0.0001	5.259e-05	5.251e-05	6.432e-05	4.033e-05	0.0015	2.558e-05	1.831e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0	0.142	0.25560	T	0.153	0.32144	T	0.002	0.09854	B	0.002	0.06944	B	0.442355	0.12611	U	0.534986	0.999799	0.20333	N	0	0.06538	N	1.94	0.22678	T	-0.31	0.12661	N	0.264	0.29889	-1.0356	0.18668	T	0.027	0.11751	T	10	0.09367645	0.16598	T	0.112556	0.79074	D	0.120	0.33359	0.168	0.07302	0.208816687407	0.20498	0.26918745085289936	0.26831	1.30340348241	0.83073	0.779393792152	0.78835	T	0.013345	0.11560	T	-0.257622	0.13181	T	-0.607833	0.12161	T	0.0309591297299192	0.02140	T	0.715628	0.32820	T	0.049127083	0.08673	0.04764136	0.06905	0.049127083	0.08673	0.04764136	0.06905	-6.191	0.47858	T	.	.	0.097	0.15654	B	.;.	.;.	1.283779	0.16839	12.80	0.90562145325192589	0.19817	0.81064	0.40549	D	AEFBI	0.226784	0.35068	N	-0.620359721666065	0.18334	0.9509784	-0.524563049846082	0.21487	1.162602	0.995623305908546	0.34230	0.495158	0.18159	0	0.657636	0.61667	0	0.535252	0.11790	0	0.562822	0.20929	0	.	.	4.15	4.15	0.47978	2.858000	0.48055	3.100000	0.36316	0.460000	0.21577	0.659000	0.28251	0.903000	0.28003	0.008000	0.08271	0.0:0.9062:0.0:0.0938	10.182	0.42148	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	887.31	5	chr22	50178214	.	C	T	887.31	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.78;DP=71;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=29.58;ReadPosRankSum=-0.116;SOR=0.314	GT:AD:DP:GQ:PL	1/1:1,29:30:79:907,79,0	5	1	0	0
chrX	16171263	16171263	A	G	exonic	MAGEB17	.	nonsynonymous SNV	MAGEB17:NM_001277307:exon2:c.A881G:p.N294S	.	433	1078	10	1	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00247560068479	.	0.000264901	0.0002	0	0	0	0	5.394e-05	0	0.0014	0.0001358	21	154602	rs759076744	8.943e-05	9.014e-05	6.4e-05	0.0001	0.0017	7.507e-05	6.897e-05	0.0009	0.0008	0	0	5.19e-05	0	0	0.0017	3.329e-05	6.517e-05	0.0011	4.471e-05	6.088e-05	2.57e-05	8.821e-05	0.0019	1.707e-05	1.049e-05	0.0008	0.0005	0	0	0	0	0	0	0	0	0	0.0019	0.104	0.29959	T	0.155	0.31936	T	.	.	.	.	.	.	0.984529	0.08072	N	0.992215	1	0.08975	N	0.715	0.18665	N	4.67	0.01735	T	-3.99	0.73893	D	0.019	0.00279	-0.9676	0.37693	T	0.006	0.01981	T	8	0.0134242475	0.00285	T	0.002476	0.04896	T	0.018	0.03083	0.407	0.44066	0.176091768786	0.17195	0.44405730700315216	0.44323	0.160309896922	0.18085	0.473092854023	0.35106	T	0.105006	0.41509	T	-0.895909	0.00000	T	-1.10524	0.00025	T	0.251658499240875	0.22947	T	0.279972	0.04873	T	0.07414296	0.16617	0.13026424	0.31305	0.07414296	0.16617	0.13026424	0.31304	-4.762	0.34145	T	.	.	0.132	0.28406	B	.;.	.;.	0.218092	0.06006	2.449	0.56793557847941412	0.05629	0.00399	0.01994	N	AEFBI	.	.	.	.	.	.	.	.	.	0.941644722289633	0.27486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.66	-5.32	0.02511	-0.053000	0.11802	-2.622000	0.03538	-0.089000	0.16174	0.001000	0.13787	0.000000	0.08366	0.687000	0.33748	0.2203:0.4936:0.1227:0.1635	2.597	0.04562	428	0.80967	MAGE homology domain;MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	4836.0	39	chrX	16171263	.	A	G	4836.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=3.1;DP=410;ExcessHet=0;FS=0.971;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.6;ReadPosRankSum=-1.508;SOR=0.792	GT:AD:DP:GQ:PL	0/1:103,70:173:99:1910,0,2713	4	1	1	0
chrX	18180650	18180650	G	A	exonic	BEND2	.	nonsynonymous SNV	BEND2:NM_001184767:exon7:c.C1016T:p.A339V,BEND2:NM_153346:exon9:c.C1289T:p.A430V	.	.	.	.	.	.	.	.	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.763e-06	2.734e-06	4.091e-06	0	0.0002	7.4e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0.0002	2.406e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.12226	T	0.379	0.32568	T	0.056	0.22806	B	0.01	0.14941	B	0.590420	0.05589	N	1.324380	1	0.08975	N	-0.08	0.04796	N	1.95	0.25509	T	-0.23	0.10656	N	0.152	0.22098	-1.0196	0.23845	T	0.024	0.10194	T	10	0.056331396	0.06297	T	0.00207	0.03801	T	0.004	0.00165	0.276	0.22845	0.0482279557977	0.04254	0.13018203682578428	0.12943	0.187262311553	0.21039	0.263757765293	0.05346	T	0.003482	0.02889	T	-0.536645	0.00351	T	-1.00863	0.00123	T	0.101564548909664	0.12528	T	0.447055	0.12582	T	0.08327723	0.19223	0.08647878	0.20039	0.08327723	0.19223	0.08647878	0.20039	-4.566	0.35282	T	.	.	0.109	0.20663	B	.;.	.;.	-0.753963	0.01202	0.059	0.82482733806649478	0.14215	0.01156	0.04174	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.00378210934112351	0.10278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.57	-1.65	0.07849	-1.079000	0.03521	-2.257000	0.03988	-1.183000	0.01384	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.5028:0.0:0.3002:0.197	3.336	0.06686	548	0.72362	.;.	.	.	.	.	.	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	0.000692	0.000000	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	534.83	36	chrX	18180650	.	G	A	534.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.137;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.307;SOR=0.836	GT:AD:DP:GQ:PL	0/1:18,20:38:99:545,0,445	5	0	1	0
chrX	24364256	24364256	-	TGCTGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1574_1575insTGCTGCTGCTGCTGCTGC:p.A543_P544insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0007	0.0003	0.0014	0.0005	0.0005	0.0011	0.0010	0.0003	0.0005	0	0.0012	0.0002	0.0009	0.0005	0.0006	0.0014	0.0005	0.0006	0.0005	0.0006	0.0007	0.0004	0.0003	0.0005	0.0004	0.0001	0	0.0005	0.0005	0.0004	0	0.0055	0.0007	0.0009	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5460.12	38	chrX	24364256	.	T	TTGCTGCTGCTGCTGCTGC	5460.12	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.116;DP=628;ExcessHet=0.095;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.88;MQRankSum=1.52;QD=27.44;ReadPosRankSum=0.305;SOR=0.737	GT:AD:DP:GQ:PL	0/1:45,39:90:99:1395,0,1735	4	1	1	0
chrX	30218702	30218702	G	A	exonic	MAGEB2	.	nonsynonymous SNV	MAGEB2:NM_002364:exon2:c.G122A:p.C41Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	9.5e-05	0.00291391	0.0012	0.0002	0	0.0136	0	3.309e-05	0.0074	0.0001	0.0008603	133	154602	rs74852235	0.0005	0.0005	0.0005	0.0005	0.0126	0.0004	0.0004	0.0115	0.0111	0.0002	5.798e-05	0.0002	0.0126	0	0.0002	3.461e-05	0.0016	0.0006	0.0007	0.0007	0.0008	0.0004	0.0101	0.0005	0.0005	0.0075	0.0066	0.0004	0	0.0019	0.0008	0.0101	0	0.0046	5.64e-05	0.0013	0	0.071	0.35165	T	0.036	0.52060	D	0.988	0.62325	D	0.673	0.53214	P	0.604470	0.05665	N	1.289800	1	0.08975	N	1.39	0.34934	L	3.7	0.04079	T	-2.53	0.54864	D	0.035	0.01004	-0.9858	0.33639	T	0.013	0.05225	T	10	0.0037859082	0.00071	T	.	.	.	0.062	0.17934	.	.	0.134241683229	0.13084	0.11963072530413536	0.11890	0.00421502833054	0.00371	0.324429035187	0.14092	T	0.017351	0.14172	T	-0.859706	0.00002	T	-0.99829	0.00142	T	0.0486824442647654	0.05266	T	0.125887	0.00981	T	0.1450718	0.33272	0.22925484	0.47991	0.1450718	0.33271	0.22925484	0.47990	-6.248	0.48309	T	.	.	0.099	0.16843	B	.	.	0.820169	0.11915	8.477	0.59001621640161173	0.06122	0.03255	0.08284	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999586821012664	0.40607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.04	0.196	0.14439	-0.287000	0.08423	-3.558000	0.02697	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4061:0.4527:0.1411	4.878	0.13025	799	0.44747	Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000689	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.25	1190.01	36	chrX	30218702	.	G	A	1190.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.606;DP=185;ExcessHet=0;FS=5.117;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=-1.264;SOR=0.873	GT:AD:DP:GQ:PL	0/1:23,19:42:99:496,0,616	4	1	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.5	65345.6	579	chrX	55146104	.	G	A	65345.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=2997;ExcessHet=11.5949;FS=0;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.62;ReadPosRankSum=0.944;SOR=0.738	GT:AD:DP:GQ:PL	0/1:117,378:495:99:10640,0,1853	0	0	6	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	0.3	13620.6	581	chrX	55146139	.	G	A	13620.6	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.573;DP=2951;ExcessHet=1.383;FS=1.119;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=0.753;SOR=0.666	GT:AD:DP:GQ:PL	0/1:312,222:534:99:5255,0,8196	2	0	3	1
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.25	12864.0	505	chrX	55146173	.	G	A	12864.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.369;DP=2600;ExcessHet=1.383;FS=0.534;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.439;SOR=0.623	GT:AD:DP:GQ:PL	0/1:292,210:502:99:5203,0,9770	3	0	3	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	0.25	11401.0	500	chrX	55146197	.	G	A	11401.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.09;DP=2440;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.782;SOR=0.686	GT:AD:DP:GQ:PL	0/1:255,175:430:99:4623,0,8599	3	0	3	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	53661.6	433	chrX	55146212	.	C	T	53661.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.92;DP=2327;ExcessHet=11.5949;FS=3.075;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=1.95;SOR=0.466	GT:AD:DP:GQ:PL	0/1:88,310:398:99:11351,0,1371	0	0	6	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.25	9842.03	287	chrX	55146247	.	G	C	9842.03	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.304;DP=1610;ExcessHet=1.383;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.989;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,114:292:99:0|1:55146247_G_C:4148,0,6947:55146247	3	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	9457.99	287	chrX	55146252	.	A	AT	9457.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.01;DP=1561;ExcessHet=1.383;FS=1.167;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.072;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,107:277:99:0|1:55146247_G_C:3950,0,6699:55146247	3	0	3	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	24838.6	282	chrX	55146254	.	T	C	24838.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.631;DP=1584;ExcessHet=11.5949;FS=4.096;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.626;SOR=0.461	GT:AD:DP:GQ:PL	0/1:174,92:266:99:2827,0,6692	0	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	8785.99	213	chrX	55146255	.	TG	T	8785.99	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.956;DP=1346;ExcessHet=1.383;FS=2.594;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.311;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,97:257:99:0|1:55146247_G_C:3591,0,6426:55146247	3	0	3	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	25538.6	211	chrX	55146275	.	T	G	25538.6	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.452;DP=1243;ExcessHet=11.5949;FS=13.632;MLEAC=6;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=22.82;ReadPosRankSum=-3.49;SOR=0.389	GT:AD:DP:GQ:PL	0/1:57,139:196:99:4802,0,1787	0	0	6	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	2587.96	178	chrX	55146283	.	C	T	2587.96	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.931;DP=1031;ExcessHet=3.1439;FS=3.064;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=-1.88;SOR=0.618	GT:AD:DP:GQ:PL	0/1:137,22:159:99:115,0,4884	2	0	4	0
chrX	57331759	57331759	C	T	exonic	FAAH2	.	stopgain	FAAH2:NM_001353840:exon4:c.C574T:p.R192X,FAAH2:NM_174912:exon4:c.C574T:p.R192X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.141e-05	0	0	0	0	2.085e-05	0	0	6.5e-06	1	154602	rs746695435	2.823e-05	2.823e-05	2.859e-05	2.752e-05	3.788e-05	2.023e-05	1.763e-05	2.195e-05	1.928e-05	3.788e-05	0	0	3.312e-05	0	0	3.207e-05	4.339e-05	0	8.999e-06	8.724e-06	1.286e-05	0	3.274e-05	0	0	.	.	3.274e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.028337	0.25618	U	0.290091	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319341	0.84422	D	0.272771	0.86724	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.199474	0.87222	29.2	0.9669549125255511	0.30755	0.22215	0.21671	N	AEFBI	.	.	.	.	.	.	.	.	.	2.1361716257463E-5	0.03498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.25	-2.01	0.07003	0.398000	0.20624	0.110000	0.14769	-2.460000	0.00277	0.944000	0.32806	0.086000	0.22461	0.111000	0.18785	0.4896:0.3684:0.0:0.1419	4.281	0.10281	434	0.80536	Amidase signature domain	.	.	.	.	.	Likely pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1318.83	36	chrX	57331759	.	C	T	1318.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.169;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.027;SOR=0.632	GT:AD:DP:GQ:PL	0/1:33,53:86:99:1329,0,732	5	0	1	0
chrX	71668998	71668998	G	A	exonic	LOC101059915	.	nonsynonymous SNV	LOC101059915:NM_001323075:exon1:c.G1195A:p.E399K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16333947	0.30588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735426	0.35200	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.40826	B	.;.	.;.	2.688630	0.35092	19.81	0.76884804867162326	0.11648	0.04439	0.10038	N	AEFBHI	.	.	.	.	.	.	.	.	.	7.10342751720917E-4	0.07666	.	.	.	.	.	.	.	.	.	.	.	.	0.059445	0.14276	2.95	2.07	0.26004	1.525000	0.35560	2.559000	0.33304	0.481000	0.22134	0.004000	0.16614	0.473000	0.25062	0.233000	0.22815	0.1613:0.0:0.8387:0.0	5.55	0.16372	124	0.95048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1555.83	82	chrX	71668998	.	G	A	1555.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.263;DP=433;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.57;MQRankSum=-1.362;QD=9.32;ReadPosRankSum=-0.995;SOR=0.685	GT:AD:DP:GQ:PL	0/1:102,65:167:99:1566,0,2708	5	0	1	0
chrX	72131205	72131205	G	T	exonic	RTL5	.	nonsynonymous SNV	RTL5:NM_001024455:exon1:c.C336A:p.S112R	.	422	1090	6	4	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0008	0.0018543	0.0029	0	0.0005	0.0002	0	0.0019	0.0029	0.0163	0.0020892	323	154602	rs199597770	0.0018	0.0018	0.0015	0.0023	0.0114	0.0017	0.0017	0.0107	0.0104	7.627e-05	0.0002	0.0049	3.328e-05	0	0.0037	0.0013	0.0016	0.0114	0.0010	0.0011	0.0009	0.0012	0.0098	0.0009	0.0008	0.0067	0.0057	3.401e-05	0	0.0007	0.0062	0	0	0.0046	0.0012	0.0007	0.0098	.	.	.	0.005	0.72224	D	0.578	0.38765	P	0.157	0.34536	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-0.9700	0.37200	T	0.017	0.06759	T	8	0.0030177236	0.00049	T	.	.	.	.	.	0.113	0.02240	0.0297737177859	0.01360	0.19254059969494955	0.19172	.	.	0.506362736225	0.39714	T	9.68E-4	0.00509	T	-0.667101	0.00057	T	-0.721626	0.04717	T	0.00528180261789687	0.00057	T	0.484852	0.14769	T	0.14210646	0.32717	0.15734774	0.36797	0.14210646	0.32716	0.15734774	0.36796	-3.127	0.11609	T	.	.	0.316	0.54198	B	.	.	1.606891	0.20534	14.79	0.98763664745302415	0.45862	0.11056	0.16377	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999942450676626	0.47345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	0.457	0.15874	-0.055000	0.11763	0.865000	0.22263	0.672000	0.70159	0.000000	0.06391	0.488000	0.25138	0.921000	0.45669	0.5028:0.0:0.4972:0.0	6.331	0.20477	264	0.89640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.008293	0.000000	0.005566	0.019920	0.000000	0.011765	0.008969	0.005263	0.08333	712.83	46	chrX	72131205	.	G	T	712.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.01;DP=277;ExcessHet=0;FS=3.329;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.55;SOR=1.179	GT:AD:DP:GQ:PL	0/1:46,29:75:99:723,0,1414	5	0	1	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	0.4167	1794.52	292	chrX	74591904	.	A	G	1794.52	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.819;DP=1024;ExcessHet=6.1542;FS=1.974;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-12.53;QD=1.82;ReadPosRankSum=3.49;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,19:228:99:0|1:74591902_T_A:169,0,8719:74591902	1	0	5	0
chrX	101884594	101884594	C	T	exonic	ZMAT1	.	nonsynonymous SNV	ZMAT1:NM_001011657:exon7:c.G833A:p.R278Q,ZMAT1:NM_001282401:exon9:c.G320A:p.R107Q,ZMAT1:NM_001282400:exon10:c.G320A:p.R107Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00137151496784	9.5e-05	.	9.14e-05	0.0001	0.0001	0	0	0.0001	0.0016	0	7.12e-05	11	154602	rs147524708	0.0001	0.0001	9.259e-05	0.0001	0.0017	8.878e-05	8.32e-05	0.0008	0.0006	0.0001	0.0002	0	0	0	0.0017	0.0001	0.0001	1.849e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.007e-05	7.277e-05	8.873e-05	6.565e-05	6.548e-05	0	9.571e-05	0	0	0	0.0141	0.0002	0.0007	0	0.84	0.02811	T	0.414	0.14369	T	.	.	.	.	.	.	0.027182	0.01663	N	2.250350	1	0.08975	N	.	.	.	2.52	0.14160	T	0.23	0.04613	N	0.056	0.02759	-1.0324	0.19681	T	0.021	0.08639	T	10	0.042752802	0.03055	T	0.001372	0.01986	T	0.015	0.02232	.	.	0.183819452728	0.17975	0.030543576056170176	0.03003	0.103709207831	0.11733	0.171549230814	0.00038	T	.	.	.	-0.793525	0.00009	T	-1.10332	0.00026	T	0.0220666661955845	0.00916	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.04119	B	.;.	.;.	-1.807453	0.00155	0.002	0.50834952525343302	0.04454	0.00150	0.00907	N	AEFGI	.	.	.	.	.	.	.	.	.	0.99895562178827	0.38059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	-8.64	0.00758	-1.559000	0.02266	-3.706000	0.02591	-2.046000	0.00421	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.6614:0.1205:0.2181	11.457	0.49437	32	0.98147	.;.	.	.	.	.	.	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	0.001855	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1593.83	39	chrX	101884594	.	C	T	1593.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3;DP=333;ExcessHet=0;FS=3.001;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.44;SOR=0.986	GT:AD:DP:GQ:PL	0/1:86,60:146:99:1604,0,2223	5	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.08333	2564.83	33	chrX	107981733	.	G	C	2564.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=381;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.52;SOR=0.714	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2575,0,2654	5	0	1	0
chrX	109409060	109409060	T	C	exonic	GUCY2F	.	nonsynonymous SNV	GUCY2F:NM_001522:exon9:c.A1900G:p.I634V	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.10111029552	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897483162	1.003e-06	2.743e-06	1.408e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.335e-05	0	8.916e-06	8.701e-06	1.285e-05	0	3.244e-05	0	0	.	.	3.244e-05	0	0	0	0	0	0	0	0	0	0.32	0.13566	T	0.481	0.11864	T	0.097	0.25541	B	0.257	0.39298	B	0.000005	0.62929	D	0.063176	0.556772	0.31290	N	0.33	0.10399	N	-1.59	0.82076	D	-0.92	0.24676	N	0.277	0.31365	-0.6609	0.62236	T	0.263	0.63372	T	10	0.34920254	0.51818	T	0.10111	0.77379	D	0.229	0.52916	0.616	0.75000	0.722721478605	0.72027	0.4736693689751208	0.47285	0.472542371218	0.46495	0.460184276104	0.33336	T	0.182717	0.53483	T	-0.129933	0.31506	T	-0.424416	0.30571	T	0.529239654541016	0.33706	D	0.940606	0.77652	D	0.27620864	0.50682	0.14576554	0.34559	0.27620864	0.50682	0.14576554	0.34559	-3.149	0.11867	T	.	.	0.196	0.41738	B	.	.	2.684290	0.35026	19.79	0.98664216578826136	0.44372	0.88574	0.48565	D	AEFI	.	.	.	.	.	.	.	.	.	0.00597955320572845	0.11094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.34	4.34	0.51267	2.822000	0.47773	1.663000	0.27911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2204:0.0:0.0:0.7795	6.423	0.20956	410	0.82135	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3193.83	34	chrX	109409060	.	T	C	3193.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.627;DP=414;ExcessHet=0;FS=4.538;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.382;SOR=0.457	GT:AD:DP:GQ:PL	0/1:106,131:237:99:3204,0,2678	5	0	1	0
chrX	116446810	116446810	G	C	exonic	SLC6A14	.	nonsynonymous SNV	SLC6A14:NM_007231:exon7:c.G859C:p.E287Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0763836950307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.152e-07	9.106e-07	1.362e-06	0	1.194e-06	0	0	.	.	0	0	0	0	0	0	1.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.30828	T	0.98	0.59353	D	0.926	0.66095	D	0.000002	0.62929	D	0.098710	0.999715	0.48481	D	3.175	0.88760	M	-0.94	0.75325	T	.	.	.	0.243	0.27435	0.256	0.86846	D	0.581	0.84911	D	10	0.63529855	0.68747	D	0.076384	0.72517	D	.	.	0.686	0.82367	0.925039501145	0.92427	0.45431562599555975	0.45349	.	.	0.404104053974	0.25640	T	0.085238	0.37458	T	-0.0102069	0.50238	T	-0.252438	0.49575	T	0.979535043239594	0.72881	D	0.939806	0.77272	D	0.49382678	0.66730	0.5580165	0.74432	0.49382678	0.66731	0.5580165	0.74433	-7.252	0.55854	T	.	.	0.154	0.34004	B	.	.	3.620842	0.51243	23.1	0.9972413705916906	0.82266	0.97130	0.72865	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999986217076	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	5.62	0.85714	3.775000	0.55055	6.376000	0.55533	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.0:1.0:0.0	15.851	0.78709	949	0.11373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	476.83	35	chrX	116446810	.	G	C	476.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.31;DP=195;ExcessHet=0;FS=1.187;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.44;SOR=0.452	GT:AD:DP:GQ:PL	0/1:25,19:44:99:487,0,628	5	0	1	0
chrX	118346576	118346576	G	A	exonic	WDR44	.	nonsynonymous SNV	WDR44:NM_001184965:exon1:c.G73A:p.V25M,WDR44:NM_001184966:exon1:c.G73A:p.V25M,WDR44:NM_019045:exon1:c.G73A:p.V25M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0329487250461	0.0008	0.000264901	0.0007	0	0.0007	0	0	0.0010	0	0.0008	0.0006727	104	154602	rs187698818	0.0007	0.0007	0.0007	0.0006	0.0055	0.0006	0.0006	0.0037	0.0031	0.0001	0.0005	0.0051	3.491e-05	5.024e-05	0.0055	0.0006	0.0010	0.0004	0.0006	0.0006	0.0007	0.0005	0.0008	0.0005	0.0005	0.0006	0.0006	6.553e-05	0.0015	0.0004	0.0061	0	0	0.0046	0.0008	0	0	0.078	0.38185	T	0.228	0.34359	T	0.212	0.32920	B	0.035	0.28532	B	0.598794	0.10979	N	0.807531	1	0.08975	N	1.355	0.33814	L	-0.89	0.74793	T	-0.27	0.11366	N	0.148	0.15046	-0.9574	0.39662	T	0.182	0.52965	T	10	0.0048140883	0.00102	T	0.032949	0.54634	D	0.055	0.15663	.	.	0.284112513307	0.28011	0.05988480309334891	0.05928	0.224643676936	0.24998	0.361828774214	0.19652	T	0.113065	0.42981	T	-0.474375	0.00799	T	-0.526988	0.19589	T	0.00422034054563488	0.00045	T	0.813919	0.47665	T	0.06921623	0.15145	0.114033476	0.27525	0.06921623	0.15145	0.114033476	0.27524	-5.265	0.41464	T	.	.	0.246	0.48050	B	.;.;.	.;.;.	1.471088	0.18947	14.01	0.97075750636822389	0.32260	0.09800	0.15473	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999969169477	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	0.787	0.17740	0.481000	0.21969	1.945000	0.29852	0.672000	0.70159	0.001000	0.13787	0.018000	0.20648	0.959000	0.51448	0.2082:0.0:0.4186:0.3732	3.363	0.06775	758	0.50837	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.003446	0.000000	0.007421	0.003953	0.000000	0.000000	0.000000	0.000000	0.08333	1401.83	38	chrX	118346576	.	G	A	1401.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.45;DP=302;ExcessHet=0;FS=1.494;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.521;SOR=0.898	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1412,0,1401	5	0	1	0
chrX	132072994	132072994	A	G	exonic	STK26	.	nonsynonymous SNV	STK26:NM_001042452:exon9:c.A941G:p.Q314R,STK26:NM_001042453:exon10:c.A896G:p.Q299R,STK26:NM_016542:exon11:c.A1127G:p.Q376R	.	446	1074	2	0	0	2	0.000930233	.	.	.	2424462	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	0.0935784611406	.	.	3.461e-05	0	0	0	0	6.308e-05	0	0	1.94e-05	3	154602	rs759399972	4.467e-05	4.462e-05	4.085e-05	5.243e-05	0.0029	3.419e-05	3.08e-05	0.0017	0.0013	3.794e-05	0	0.0002	0	0	0.0029	2.972e-05	0.0002	0	1.777e-05	1.739e-05	0	5.764e-05	3.75e-05	2.95e-06	1.11e-06	6.22e-06	2.33e-06	0	0	0	0	0	0	0	3.75e-05	0	0	0.089	0.32769	T	0.532	0.10429	T	0.004	0.20242	B	0.01	0.23121	B	0.002655	0.36173	N	0.182940	0.994268	0.23554	N	.	.	.	1.59	0.28836	T	-1.11	0.28703	N	0.191	0.29313	-1.0457	0.15621	T	0.052	0.21960	T	10	0.098068684	0.17706	T	0.093578	0.76098	D	0.066	0.19193	0.19	0.10039	0.308613300994	0.30479	0.42287368273514114	0.42204	0.691555572285	0.60602	0.393458127975	0.24156	T	0.087265	0.37904	T	-0.477547	0.00765	T	-0.708405	0.05378	T	0.0684665812500037	0.08434	T	0.654835	0.32279	T	0.48136508	0.65983	0.42760506	0.66500	0.48136508	0.65984	0.42760506	0.66500	-4.182	0.29746	T	.	.	0.070	0.06617	B	.;.;.;.;.	.;.;.;.;.	2.292680	0.29327	18.09	0.99408641887263482	0.63169	0.86767	0.46119	D	AEFBI	.	.	.	.	.	.	.	.	.	0.720682693102743	0.22928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.76	5.76	0.90726	2.866000	0.48119	4.700000	0.44405	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.092	0.71871	276	0.89131	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004135	0.006849	0.000000	0.015810	0.000000	0.011765	0.000000	0.000000	0.08333	602.83	33	chrX	132072994	.	A	G	602.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.341;DP=199;ExcessHet=0;FS=1.174;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.082;SOR=0.9	GT:AD:DP:GQ:PL	0/1:21,23:44:99:613,0,667	5	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	64.5	77	chrX	135580144	.	G	C	64.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.534;DP=278;ExcessHet=3.1439;FS=273.052;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=0.229;SOR=9.327	GT:AD:DP:GQ:PL	0/1:30,12:55:3:3,0,413	2	0	4	0
chrX	136227328	136227328	T	C	exonic	MAP7D3	.	nonsynonymous SNV	MAP7D3:NM_001173517:exon11:c.A1885G:p.K629E,MAP7D3:NM_001173516:exon12:c.A1936G:p.K646E,MAP7D3:NM_024597:exon12:c.A1990G:p.K664E	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00821589867153	.	.	1.148e-05	0	0	0	0	0	0	9.878e-05	6.5e-06	1	154602	rs770141603	7.29e-06	7.284e-06	8.167e-06	5.512e-06	0.0002	3.14e-06	2.27e-06	1.471e-05	7.08e-06	0	0	0	0	0	0.0002	3.565e-06	2.171e-05	5.545e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.635	0.07082	T	0.77	0.45299	P	0.284	0.44712	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	2.53	0.14038	T	-0.05	0.08495	N	0.12	0.11769	-1.0083	0.27448	T	0.022	0.09375	T	9	0.07664952	0.11999	T	0.008216	0.21776	T	0.054	0.15330	0.505	0.59924	0.282179105231	0.27821	0.014222077155084957	0.01379	0.457674047346	0.45397	0.316906273365	0.12952	T	0.003151	0.10158	T	-0.514943	0.00470	T	-0.827163	0.01313	T	0.15591488290815	0.17565	T	0.50065	0.15660	T	0.12773192	0.29883	0.11206472	0.27036	0.12773192	0.29883	0.11206472	0.27035	-3.445	0.15670	T	0.4150857338271214	0.50476	0.080	0.22282	B	.;.;.;.	.;.;.;.	1.394315	0.18074	13.53	0.83706233641453176	0.14874	0.11737	0.16829	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.991673760235792	0.32570	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0	-1.9	0.07248	0.392000	0.20527	0.485000	0.18844	-0.157000	0.11712	0.000000	0.06391	0.001000	0.17328	0.007000	0.07825	0.0:0.2401:0.492:0.2679	5.430	0.15744	778	0.48011	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1214.83	33	chrX	136227328	.	T	C	1214.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.779;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-1.662;SOR=0.645	GT:AD:DP:GQ:PL	0/1:35,51:86:99:1225,0,813	5	0	1	0
chrX	153320479	153320479	C	T	exonic	PNMA6F	.	nonsynonymous SNV	PNMA6F:NM_001354980:exon2:c.G196A:p.A66T	.	3	222	0	1	0	2	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428147942	4.345e-05	5.027e-05	6.571e-05	0	0.0019	2.066e-05	1.548e-05	0.0006	0.0004	0.0002	0	0	0	0	0.0011	8.536e-06	7.943e-05	0.0019	3.587e-05	6.965e-05	5.142e-05	0	0.0004	1.138e-05	6.65e-06	1.084e-05	4.05e-06	6.548e-05	0	0	0	0	0	0	1.887e-05	0	0.0004	.	.	.	0.448	0.13030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.050794303	0.04864	T	.	.	.	.	.	.	.	.	.	0.17014904913898948	0.16934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312569	0.06116	T	0.035421513	0.04166	0.119637415	0.28876	0.035421513	0.04165	0.119637415	0.28875	-6.813	0.52656	T	.	.	0.121	0.25133	B	.	.	-0.163296	0.03284	0.563	0.56930619224452961	0.05658	0.00890	0.03501	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.604266865674749	0.21752	.	.	.	.	.	.	.	.	.	.	.	.	0.0590987	0.14171	2.66	-1.8	0.07480	-0.504000	0.06456	.	.	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3156:0.4472:0.0:0.2372	3.731	0.08019	162	0.93704	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	1250.83	41	chrX	153320479	.	C	T	1250.83	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.654;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.88;MQRankSum=-0.954;QD=15.25;ReadPosRankSum=1.13;SOR=0.693	GT:AD:DP:GQ:PL	0/1:41,41:82:99:1261,0,1173	5	0	1	0
chrX	153454965	153454965	C	T	exonic	HAUS7	.	nonsynonymous SNV	HAUS7:NM_001385481:exon9:c.G1019A:p.R340H,HAUS7:NM_001385483:exon10:c.G1019A:p.R340H	.	436	1061	18	7	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0042	0.00662252	0.0069	0.0015	0.0045	0.0002	0.0022	0.0071	0.0221	0.0180	0.0068046	1052	154602	rs151168698	0.0064	0.0058	0.0059	0.0072	0.0230	0.0062	0.0062	0.0188	0.0172	0.0010	0.0042	0.0127	0.0004	0.0017	0.0230	0.0058	0.0073	0.0179	0.0057	0.0058	0.0060	0.0051	0.0129	0.0054	0.0052	0.0095	0.0084	0.0019	0.0706	0.0094	0.0143	0.0003	0.0011	0.0367	0.0062	0.0117	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	4287.0	36	chrX	153454965	.	C	T	4287.0	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.75;DP=429;ExcessHet=0;FS=4.051;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-1.152;SOR=0.506	GT:AD:DP:GQ:PL	0/1:117,81:198:99:1917,0,2825	4	1	1	0