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	NSWES976	WT	HH	HZ	NC
chr1	1020239	1020239	G	C	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon1:c.G67C:p.V23L	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	14	1448	54	6	0	66	0.0222822	.	.	.	206690	not_specified|not_provided|Congenital_myasthenic_syndrome_8|AGRN-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	.	.	0.00878594	0.0348	0.0127	0.0641	0.0089	.	0.0123	0.0455	0.0432	0.0026067	403	154602	rs201073369	0.0071	0.0067	0.0062	0.0080	0.0319	0.0070	0.0069	0.0308	0.0303	0.0045	0.0019	0.0188	0.0010	0.0054	0.0164	0.0055	0.0088	0.0319	0.0067	0.0067	0.0066	0.0069	0.0311	0.0064	0.0062	0.0270	0.0255	0.0043	0	0.0031	0.0185	0.0048	0.0036	0.0034	0.0074	0.0086	0.0311	0.632	0.05121	T	0.192	0.28300	T	.	.	.	.	.	.	0.726910	0.09888	U	0.737577	1	0.08975	N	0.14	0.08730	N	-0.9	0.74896	T	-0.25	0.11008	N	0.053	0.02462	-0.9797	0.35071	T	0.184	0.53270	T	10	0.0018510222	0.00025	T	.	.	.	0.040	0.10527	.	.	.	.	0.18601286770968664	0.18519	0.422332236549	0.42733	0.913664937019	0.97804	D	.	.	.	-0.458053	0.01011	T	-0.40567	0.32724	T	0.00447011521354338	0.00048	T	0.49875	0.15541	T	.	.	.	.	.	.	.	.	-2.074	0.03474	T	.	.	0.079	0.07224	B	.	.	1.215538	0.16088	12.31	0.43474261126813984	0.03275	0.00656	0.02847	N	ALL	0.038155	0.05356	N	-1.10990126718945	0.06466	0.297743	-1.16109306244423	0.06570	0.316724	0.999999999973226	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	2.05	1.04	0.19220	0.455000	0.21555	0.558000	0.19484	0.458000	0.21545	0.002000	0.15269	0.988000	0.31051	0.789000	0.37270	0.142:0.0:0.858:0.0	7.971	0.29289	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016317	0.009259	0.009009	0.018519	0.000000	0.000000	0.000000	0.016393	0.02632	396.33	28	chr1	1020239	.	G	C	396.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.515;DP=448;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.277;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,18:34:99:1|0:1020217_G_T:410,0,605:1020217	18	0	1	0
chr1	1047342	1047342	A	G	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon20:c.A3404G:p.Q1135R	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1406	106	10	0	126	0.0428863	.	.	.	133748	not_specified|not_provided|Congenital_myasthenic_syndrome_8	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.192	.	0.0054	0.0139776	0.0143	0.0024	0.0027	0.0030	0.0046	0.0098	0.0141	0.0640	0.0127295	1968	154602	rs142416636	0.0098	0.0098	0.0081	0.0115	0.0567	0.0096	0.0096	0.0554	0.0548	0.0013	0.0030	0.0299	0.0018	0.0044	0.0307	0.0065	0.0129	0.0567	0.0077	0.0077	0.0071	0.0084	0.0574	0.0074	0.0072	0.0518	0.0497	0.0013	0	0.0042	0.0288	0.0046	0.0037	0.0238	0.0087	0.0118	0.0574	0.012	0.54683	D	0.007	0.69154	D	.	.	.	.	.	.	0.003679	0.34636	N	0.202957	0.921028	0.36678	D	2.135	0.59519	M	1.16	0.38073	T	-1.59	0.38345	N	0.519	0.54932	-1.0091	0.27198	T	0.074	0.29960	T	10	0.007086724	0.00161	T	.	.	.	0.192	0.47115	.	.	.	.	0.6762159472269722	0.67559	0.592570687533	0.54640	0.507688999176	0.39899	T	.	.	.	-0.44873	0.01149	T	-0.376367	0.36146	T	0.013385198865462	0.00242	T	0.836816	0.50885	T	.	.	.	.	.	.	.	.	-7.347	0.56529	T	.	.	0.109	0.38587	B	.;.	.;.	3.504255	0.49039	22.7	0.99389829152015619	0.62292	0.86197	0.45432	D	AEFBI	0.265116	0.38231	N	0.244303167897421	0.53358	3.504996	0.252757546594491	0.52807	3.453025	0.919847161373162	0.26614	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	4.16	0.48138	2.004000	0.40474	6.613000	0.56094	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.671	0.61899	940	0.13648	.;SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029204	0.005051	0.024523	0.038012	0.000000	0.051724	0.018293	0.041667	0.02632	375.33	39	chr1	1047342	.	A	G	375.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.611;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-1.624;SOR=0.776	GT:AD:DP:GQ:PL	0/1:40,20:60:99:389,0,1088	18	0	1	0
chr1	1048170	1048170	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon23:c.G3910A:p.A1304T	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	626538	not_provided|Inborn_genetic_diseases|Congenital_myasthenic_syndrome_8	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.115961597703	7.9e-05	.	7.977e-05	0	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs375590400	6.729e-05	7.046e-05	6.399e-05	7.063e-05	0.0002	5.63e-05	5.232e-05	0.0001	9.013e-05	3.054e-05	0	0	0	0	0.0002	6.724e-05	8.426e-05	0.0002	5.915e-05	5.911e-05	8.995e-05	2.691e-05	0.0001	3.078e-05	2.211e-05	5.844e-05	4.241e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.651	0.04832	T	0.177	0.29740	T	.	.	.	.	.	.	0.009589	0.30291	N	0.263339	1	0.08975	N	0.55	0.14455	N	-0.94	0.75325	T	-0.74	0.20791	N	0.094	0.07398	-1.0098	0.26981	T	0.168	0.50762	T	10	0.06380245	0.08366	T	0.115962	0.79531	D	0.067	0.19503	.	.	0.62380043238	0.62074	0.2750270993301686	0.27415	0.197183558091	0.22091	0.434752881527	0.29859	T	.	.	.	-0.372466	0.03471	T	-0.517752	0.20522	T	0.0112580247223377	0.00166	T	0.542746	0.18485	T	.	.	.	.	.	.	.	.	-4.676	0.33112	T	.	.	0.067	0.04436	B	.;.	.;.	0.864170	0.12365	8.905	0.51909772674365928	0.04649	0.07437	0.13455	N	AEFBI	0.034561	0.04303	N	-1.13487888642228	0.06032	0.276638	-1.08957773557398	0.07904	0.3864023	0.32800561236804	0.19455	0.706298	0.61202	0	0.724815	0.89359	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.93	2.89	0.32713	0.356000	0.19918	0.425000	0.18262	-0.213000	0.08312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.232:0.5235:0.2445:0.0	8.824	0.34200	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	0.002575	0.005495	0.001374	0.000000	0.000000	0.000000	0.003165	0.007634	0.02632	1064.33	45	chr1	1048170	.	G	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.754;DP=814;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=-1.106;SOR=0.534	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1078,0,848	18	0	1	0
chr1	2591992	2591992	G	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon22:c.C2103A:p.D701E	.	410	1077	34	1	0	36	0.0164384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0002	0.00479233	0.0039	0.0003	0.0020	0	0.0009	0.0007	0.0068	0.0234	0.0032923	509	154602	rs139941953	0.0020	0.0020	0.0012	0.0027	0.0241	0.0019	0.0019	0.0233	0.0229	0.0002	0.0017	0.0004	5.038e-05	0.0016	0.0087	0.0004	0.0023	0.0241	0.0013	0.0013	0.0008	0.0017	0.0245	0.0011	0.0011	0.0209	0.0195	4.815e-05	0	0.0020	0.0003	0.0002	0.0010	0.0034	0.0004	0.0024	0.0245	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.047	0.24832	B	0.000104	0.50451	D	0.169147	0.978157	0.25267	N	-0.8	0.01622	N	-2.27	0.87433	D	1.2	0.01551	N	0.116	0.13626	-0.7463	0.58128	T	0.119	0.41799	T	10	0.0022487938	0.00033	T	.	.	.	0.202	0.48754	0.318	0.29581	0.15556083564	0.15200	0.336983864726798	0.33611	0.197538282878	0.22128	0.356063842773	0.18811	T	0.251541	0.62180	T	-0.500915	0.00565	T	-0.474053	0.25082	T	0.00519120197706073	0.00056	T	0.641436	0.25361	T	0.02935999	0.02419	0.039899465	0.04190	0.02935999	0.02418	0.039899465	0.04190	-0.089	0.00382	T	.	.	0.265	0.49950	B	.;.	.;.	0.215240	0.05983	2.423	0.81869607158816715	0.13902	0.08265	0.14217	N	AEFDBI	0.128674	0.24654	N	-1.30047499016735	0.03671	0.1643771	-1.22291144834836	0.05543	0.264422	0.997556911042802	0.35751	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	-3.73	0.04112	-0.229000	0.09106	-1.143000	0.06203	0.676000	0.76740	0.100000	0.22794	0.000000	0.08366	0.948000	0.49324	0.2739:0.3106:0.2003:0.2152	0.592	0.00682	835	0.38313	Peptidase M13, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006559	0.005051	0.000000	0.008824	0.000000	0.017241	0.006135	0.018939	0.02632	938.33	39	chr1	2591992	.	G	T	938.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=730;ExcessHet=0;FS=3.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.696;SOR=1.215	GT:AD:DP:GQ:PL	0/1:38,35:73:99:952,0,974	18	0	1	0
chr1	3763722	3763724	ACA	-	exonic	CCDC27	.	nonframeshift deletion	CCDC27:NM_152492:exon8:c.1338_1340del:p.Q449del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0002	9.619e-05	0.0003	0.0002	0	0.0002	0	6.058e-05	0.0001358	21	154602	rs748242146	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0.0002	0.0003	0.0006	0.0003	0	0	0.0001	0.0004	0.0003	0.0001	0.0001	0.0001	0.0001	0.0006	8.173e-05	6.728e-05	0.0002	8.375e-05	0.0001	0	0.0001	0	0.0006	0	0	5.883e-05	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	942.29	40	chr1	3763721	.	TACA	T	942.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=740;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.666;SOR=0.745	GT:AD:DP:GQ:PL	0/1:45,26:71:99:956,0,1811	18	0	1	0
chr1	3823556	3823556	C	T	exonic	CEP104	.	nonsynonymous SNV	CEP104:NM_014704:exon19:c.G2371A:p.E791K	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567	0.1007812813	7.7e-05	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs138340436	7.525e-06	7.524e-06	5.445e-06	9.625e-06	1.159e-05	4.04e-06	2.95e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.135	0.88152	M	0.14	0.60854	T	-3.7	0.70553	D	0.998	0.99987	-0.0403	0.81411	T	0.453	0.78656	T	10	0.83884835	0.83038	D	0.100781	0.77327	D	0.567	0.82346	.	.	0.845788616778	0.84430	0.854922840480771	0.85455	0.745128000262	0.63470	0.66572868824	0.62228	T	0.414802	0.76825	T	0.234189	0.77115	D	0.267748	0.86460	D	0.978504240512848	0.72359	D	0.975436	0.94055	D	0.884711	0.90058	0.7977365	0.88128	0.884711	0.90059	0.7977365	0.88128	-15.965	0.97708	D	.	.	0.972	0.89728	P	.;.	.;.	4.687430	0.75076	26.3	0.99916898380667007	0.98449	0.98915	0.88569	D	AEFDBI	0.751601	0.69236	D	0.77787003655725	0.84704	8.362673	0.699164676071089	0.82313	7.736725	0.999999999997857	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	7.097000	0.76621	7.373000	0.58408	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:1.0:0.0:0.0	18.785	0.91914	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	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2403.33	33	chr1	3823556	.	C	T	2403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.724;DP=809;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.127;SOR=0.634	GT:AD:DP:GQ:PL	0/1:93,97:190:99:2417,0,2125	18	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	307.41	39	chr1	3836493	.	A	C	307.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.875;DP=849;ExcessHet=0.3672;FS=48.286;InbreedingCoeff=-0.2465;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=2.52;SOR=3.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,13:51:99:.:.:163,0,814:.	7	0	3	9
chr1	6589148	6589148	G	T	exonic	ZBTB48	.	nonsynonymous SNV	ZBTB48:NM_001278647:exon11:c.G2003T:p.G668V,ZBTB48:NM_001278648:exon11:c.G2003T:p.G668V,ZBTB48:NM_005341:exon11:c.G2003T:p.G668V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00814537627153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.118	0.36233	T	0.023	0.18885	B	0.031	0.21939	B	0.491458	0.12052	N	0.774897	1	0.08975	N	.	.	.	2.97	0.09450	T	0.88	0.01664	N	0.271	0.30687	-0.9535	0.40363	T	0.014	0.05369	T	10	0.09009245	0.15664	T	0.008145	0.21572	T	0.096	0.27654	0.424	0.46857	0.043077524339	0.03247	0.47514606454269026	0.47433	0.502464512018	0.48603	0.319777220488	0.13387	T	0.055971	0.30157	T	-0.252489	0.13794	T	-0.600459	0.12772	T	0.119171112775803	0.14349	T	0.530047	0.17581	T	0.051588304	0.09496	0.047546696	0.06873	0.051588304	0.09495	0.047546696	0.06872	-3.902	0.22333	T	.	.	0.103	0.18289	B	.	.	0.916335	0.12909	9.419	0.52692280003553105	0.04796	0.48433	0.28206	N	AEFDBHCI	0.188219	0.31549	N	-1.00235992956315	0.08555	0.4015515	-0.919236086623293	0.11641	0.5942727	0.999999933804518	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.34	4.43	0.52967	2.075000	0.41163	6.945000	0.57004	-0.113000	0.14837	0.014000	0.18986	0.999000	0.35428	0.000000	0.00833	0.0855:0.1686:0.7459:0.0	8.271	0.31002	763	0.50172	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	839.33	34	chr1	6589148	.	G	T	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.113;DP=711;ExcessHet=0;FS=2.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-2.054;SOR=0.416	GT:AD:DP:GQ:PL	0/1:42,31:73:99:853,0,1300	18	0	1	0
chr1	9262317	9262317	C	T	exonic	H6PD	.	nonsynonymous SNV	H6PD:NM_001282587:exon4:c.C1037T:p.P346L,H6PD:NM_004285:exon4:c.C1004T:p.P335L	Cortisone reductase deficiency 1, Autosomal recessive	2	1500	19	1	0	21	0.00695134	.	.	.	696913	H6PD-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.899	0.288582999981	0.0021	0.00299521	0.0032	0.0019	0.0056	0	0	0.0034	0.0041	0.0038	0.0020892	323	154602	rs140631516	0.0025	0.0025	0.0025	0.0025	0.0125	0.0024	0.0024	0.0101	0.0093	0.0014	0.0034	0.0069	0	0.0002	0.0125	0.0024	0.0033	0.0034	0.0019	0.0020	0.0022	0.0017	0.0031	0.0018	0.0017	0.0020	0.0019	0.0014	0	0.0023	0.0049	0.0002	0	0.0170	0.0023	0.0028	0.0031	0.003	0.68238	D	0.006	0.72224	D	1.0	0.90584	D	0.976	0.73562	D	0.000000	0.84330	D	0.050129	1	0.81001	D	3.17	0.88688	M	-4.95	0.98428	D	-6.94	0.93440	D	0.911	0.91505	0.908	0.95787	D	0.955	0.98555	D	10	0.082437456	0.13607	T	0.288583	0.90484	D	0.899	0.97173	.	.	0.983126997557	0.98293	0.732442199594454	0.73189	0.520382763102	0.49834	0.66036272049	0.61461	T	0.911964	0.98349	D	0.169824	0.71107	D	0.467799	0.93964	D	0.065449511711199	0.07998	T	0.941106	0.78031	D	0.7572626	0.81292	0.6580513	0.79972	0.78228015	0.82796	0.6045666	0.77017	-9.803	0.72724	D	0.7086663488826273	0.78859	0.369	0.58999	A	.;.	.;.	5.043552	0.83965	28.2	0.99890017959383881	0.96436	0.96518	0.69540	D	AEFBI	0.621420	0.60612	D	0.841822511234359	0.88638	9.653966	0.759921471291918	0.86896	9.038762	0.999997002485183	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	5.612000	0.67362	7.541000	0.60087	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.1628:0.8372:0.0:0.0	12.860	0.57297	881	0.29269	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019388	0.041667	0.021798	0.018182	0.000000	0.043103	0.003086	0.003788	0.02632	1309.33	35	chr1	9262317	.	C	T	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=728;ExcessHet=0;FS=6.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.345;SOR=0.296	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1323,0,1072	18	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	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,63:200:99:0|1:10326244_G_C:341,0,4589:10326244	7	0	12	0
chr1	10660231	10660231	C	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.G811C:p.G271R,CASZ1:NM_017766:exon6:c.G811C:p.G271R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0190705119908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.067	0.44302	T	0.958	0.90584	D	0.483	0.74104	P	0.027329	0.25774	N	0.363429	0.998999	0.21728	N	0.695	0.17993	N	.	.	.	-1.45	0.36189	N	0.331	0.37197	-1.0330	0.19490	T	0.100	0.37188	T	9	0.18861061	0.34424	T	0.019071	0.41331	T	0.122	0.33800	0.506	0.60078	0.0934897674506	0.08844	0.12599770800410806	0.12525	.	.	0.566085398197	0.48126	T	0.229763	0.59567	T	-0.0112317	0.50094	T	-0.25391	0.49430	T	0.579775096032711	0.35610	D	0.821218	0.48050	T	0.11376631	0.26864	0.10289799	0.24676	0.11376631	0.26864	0.10289799	0.24675	-4.016	0.24042	T	.	.	0.312	0.53951	B	.;.	.;.	3.429694	0.47660	22.5	0.9913573975565495	0.53383	0.44630	0.27360	N	AEFBI	0.075481	0.15159	N	0.136203757738176	0.48159	3.031803	0.133184461497943	0.46257	2.874635	0.990450959259744	0.32159	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	3.928000	0.56220	3.868000	0.40172	0.549000	0.26987	0.994000	0.38300	0.999000	0.35428	0.339000	0.25409	0.1573:0.5751:0.1753:0.0922	3.823	0.08359	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	699.33	34	chr1	10660231	.	C	G	699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.697;DP=808;ExcessHet=0;FS=2.975;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-1.394;SOR=1.044	GT:AD:DP:GQ:PL	0/1:52,31:83:99:713,0,1560	18	0	1	0
chr1	10964214	10964214	G	A	exonic	C1orf127	.	nonsynonymous SNV	C1orf127:NM_001366227:exon3:c.C13T:p.R5W,C1orf127:NM_001170754:exon5:c.C430T:p.R144W	.	427	938	142	11	4	168	0.0803922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0246761125528	.	.	1.659e-05	0	0	0	0	3.012e-05	0	0	1.29e-05	2	154602	rs11121662	1.437e-05	1.436e-05	1.225e-05	1.65e-05	0.0009	9.23e-06	7.84e-06	0.0003	0.0002	0	0	0	2.519e-05	0	0.0009	6.295e-06	9.935e-05	2.319e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.004	0.65419	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.8	0.25344	T	-2.88	0.60507	D	0.261	0.29544	-1.0441	0.16089	T	0.032	0.13635	T	6	0.19293201	0.35041	T	0.024676	0.47667	T	0.061	0.17616	0.456	0.52102	0.234412748748	0.23057	0.2408208274667579	0.23996	0.432079169993	0.43389	.	.	.	.	.	.	-0.295716	0.09069	T	-0.532101	0.19077	T	0.880039632320404	0.53003	D	0.665433	0.27458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33504	B	.	.	3.349009	0.46180	22.3	0.99865324884152484	0.94366	0.72279	0.35384	D	AEFBI	0.521580	0.54596	D	-0.330805883549617	0.27984	1.539771	-0.314524434764195	0.27628	1.534491	0.999076417678965	0.38370	0.600919	0.35232	0	0.596877	0.49441	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.35	2.43	0.28797	1.664000	0.37055	1.252000	0.25176	0.676000	0.76740	1.000000	0.71638	0.001000	0.17328	0.250000	0.23263	0.0955:0.1651:0.7394:0.0	7.667	0.27603	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	.	.	.	.	.	.	.	.	0.02632	2385.33	34	chr1	10964214	.	G	A	2385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.011;DP=835;ExcessHet=0;FS=0.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.11;SOR=0.626	GT:AD:DP:GQ:PL	0/1:90,97:187:99:2399,0,2107	18	0	1	0
chr1	11676902	11676902	C	A	exonic	MAD2L2	.	nonsynonymous SNV	MAD2L2:NM_001127325:exon5:c.G278T:p.R93L,MAD2L2:NM_006341:exon5:c.G278T:p.R93L	.	.	.	.	.	.	.	.	.	.	.	2999532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.00384665949945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.573	0.09144	T	0.002	0.09854	B	0.003	0.08700	B	0.000004	0.62929	D	0.140503	0.998546	0.81001	D	0.79	0.19579	N	.	.	.	-0.59	0.24676	N	0.399	0.44090	-0.9698	0.37242	T	0.115	0.40717	T	9	0.22715846	0.39589	T	0.003847	0.09024	T	0.095	0.27398	0.31	0.28289	0.638093873822	0.63511	0.7011699154786235	0.70057	0.937084714361	0.72070	0.368292152882	0.20587	T	0.096974	0.39933	T	-0.014345	0.49655	T	-0.258382	0.48985	T	0.642212927341461	0.38131	D	0.937106	0.79398	D	0.22658394	0.45343	0.11012133	0.26549	0.22658394	0.45343	0.11012133	0.26549	-5.369	0.40621	T	0.1931812831204999	0.25411	0.113	0.33913	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.909052	0.56999	23.8	0.97384412691796762	0.33691	0.77943	0.38385	D	AEFDBHCI	0.787620	0.71734	D	-0.0508408262789418	0.39565	2.335229	0.142144834571678	0.46729	2.914048	0.999999886034038	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	4.54	0.55220	3.840000	0.55547	4.756000	0.44687	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7132:0.0:0.2868	4.419	0.10899	880	0.29376	HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain;HORMA domain|HORMA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2674.33	33	chr1	11676902	.	C	A	2674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=996;ExcessHet=0;FS=4.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.875;SOR=0.963	GT:AD:DP:GQ:PL	0/1:91,101:192:99:2688,0,2158	18	0	1	0
chr1	12276766	12276766	G	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon19:c.G3178A:p.D1060N,VPS13D:NM_018156:exon19:c.G3178A:p.D1060N	.	431	1082	9	0	0	9	0.00414174	.	.	.	1609671	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.065	.	7.7e-05	0.00259585	0.0019	0	0.0005	0	0	0.0008	0.0022	0.0101	0.0016041	248	154602	rs200303790	0.0010	0.0010	0.0007	0.0014	0.0091	0.0010	0.0010	0.0086	0.0084	0.0001	0.0007	0.0035	0	5.616e-05	0.0073	0.0004	0.0008	0.0091	0.0007	0.0007	0.0005	0.0008	0.0087	0.0006	0.0005	0.0066	0.0059	2.407e-05	0	0.0010	0.0035	0	0	0.0034	0.0005	0.0009	0.0087	.	.	.	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.117170	0.02692	N	1.681260	1	0.08975	N	0.14	0.08730	N	.	.	.	.	.	.	0.023	0.00407	-1.0138	0.25720	T	0.075	0.30335	T	10	0.0038315356	0.00072	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.1257722073147714	0.12503	.	.	0.309342801571	0.11807	T	0.080212	0.36311	T	-0.701473	0.00036	T	-0.773002	0.02670	T	0.00759358164671703	0.00088	T	0.688231	0.29741	T	0.032184318	0.03196	0.030538442	0.01521	0.025688818	0.01535	0.02853045	0.01097	-2.935	0.09497	T	0.10979882339767676	0.09207	0.067	0.02370	B	.;.	.;.	0.135025	0.05298	1.793	0.58766805999173111	0.06068	0.33134	0.24754	N	AEFBCI	0.057733	0.10780	N	-1.21862925449252	0.04730	0.2140924	-1.16117983979543	0.06569	0.3166405	0.115157513315128	0.16749	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	6.14	2.1	0.26226	1.264000	0.32618	1.460000	0.26674	-0.196000	0.09079	0.225000	0.24590	0.777000	0.26748	0.100000	0.18284	0.2252:0.1217:0.653:0.0	8.786	0.33977	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	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	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2273.33	33	chr1	12276766	.	G	A	2273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.51;DP=799;ExcessHet=0;FS=1.878;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.11;SOR=0.848	GT:AD:DP:GQ:PL	0/1:88,84:172:99:2287,0,2290	18	0	1	0
chr1	12825017	12825017	C	A	exonic	PRAMEF11	.	nonsynonymous SNV	PRAMEF11:NM_001146344:exon4:c.G1362T:p.L454F	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000903578800972	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs193214100	6.856e-06	6.847e-06	6.82e-06	6.892e-06	5.405e-06	3.47e-06	2.53e-06	1.94e-06	1.28e-06	0	0	0	0	5.62e-05	0	5.405e-06	1.659e-05	0	0	6.574e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.813	0.03910	T	.	.	.	.	.	.	0.778154	0.06638	N	1.140860	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.062	0.03392	-1.0216	0.23195	T	0.058	0.24242	T	10	0.044774562	0.03473	T	9.04E-4	0.00844	T	.	.	.	.	0.0138822411134	0.00435	0.23726595885936505	0.23641	.	.	0.419300973415	0.27741	T	.	.	.	-0.247141	0.14452	T	-0.592778	0.13426	T	0.0189709402620792	0.00606	T	.	.	.	0.034100454	0.03761	0.042905368	0.05217	0.034100454	0.03761	0.042905368	0.05217	-3.757	0.20164	T	.	.	0.109	0.20896	B	.	.	0.255569	0.06345	2.807	0.43211175541927793	0.03238	0.00703	0.02985	N	AEFI	0.031355	0.03337	N	-1.57479118142039	0.01395	0.06082314	-1.62477028893322	0.01511	0.06843902	1.23234588467585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.52	-0.818	0.10286	-0.267000	0.08648	-6.323000	0.01431	-0.372000	0.05439	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4485:0.5515:0.0	7.136	0.24704	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2733.33	35	chr1	12825017	.	C	A	2733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0.972;QD=12.89;ReadPosRankSum=-1.733;SOR=0.732	GT:AD:DP:GQ:PL	0/1:110,102:212:99:2747,0,3036	18	0	1	0
chr1	12859212	12859212	C	T	exonic	PRAMEF2	.	nonsynonymous SNV	PRAMEF2:NM_023014:exon2:c.C203T:p.S68L	.	426	1092	1	0	3	4	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00215179739865	.	.	2.48e-05	9.639e-05	0	0	0	1.499e-05	0	6.061e-05	1.94e-05	3	154602	rs17038657	1.234e-05	1.232e-05	1.5e-05	9.643e-06	0.0003	7.71e-06	6.36e-06	6.119e-05	2.531e-05	2.997e-05	0	0	0	0	0.0003	9.903e-06	4.978e-05	1.16e-05	1.989e-05	1.976e-05	1.295e-05	2.718e-05	2.95e-05	5.29e-06	2.47e-06	4.9e-06	1.83e-06	2.438e-05	0	0	0	0	0	0	2.95e-05	0	0	0.069	0.35537	T	0.072	0.43344	T	0.997	0.70673	D	0.894	0.63417	P	0.637016	0.05846	N	1.213080	1	0.08975	N	2.29	0.65257	M	2.72	0.11947	T	-3.85	0.72353	D	0.139	0.13769	-1.0346	0.18983	T	0.061	0.25455	T	10	0.18030626	0.33207	T	0.002152	0.04016	T	0.014	0.01968	0.443	0.49975	0.0297737177859	0.01360	0.2653780246734523	0.26450	0.0391675380776	0.04173	0.560453057289	0.47331	T	0.023508	0.17932	T	-0.371786	0.03505	T	-0.589674	0.13694	T	0.724989533424377	0.41952	D	.	.	.	0.067806475	0.14717	0.09926532	0.23695	0.067806475	0.14716	0.09926532	0.23695	-7.626	0.58492	D	.	.	0.173	0.37876	B	.	.	1.462563	0.18854	13.96	0.98606921652714785	0.43585	0.00289	0.01551	N	AEFI	0.028151	0.02428	N	-0.506325204835683	0.21875	1.164108	-0.816938534864191	0.14084	0.7341446	1.14970700427219E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.842	-0.495	0.11430	0.151000	0.16101	-5.256000	0.01787	0.515000	0.23462	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5898:0.4102:0.0	4.573	0.11614	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	.	.	.	.	.	.	.	.	0.02632	1278.33	34	chr1	12859212	.	C	T	1278.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=1345;ExcessHet=0;FS=2.528;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.15;SOR=0.952	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1292,0,1199	18	0	1	0
chr1	13778626	13778626	-	GAAGAAGAA	exonic	PRDM2	.	nonframeshift insertion	PRDM2:NM_001007257:exon3:c.228_229insGAAGAAGAA:p.E81_D82insEEE,PRDM2:NM_012231:exon8:c.831_832insGAAGAAGAA:p.E282_D283insEEE,PRDM2:NM_015866:exon8:c.831_832insGAAGAAGAA:p.E282_D283insEEE	.	379	1079	60	2	2	66	0.0288029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.11e-06	4.105e-06	0	8.261e-06	0.0002	1.48e-06	9.7e-07	9.26e-06	4.57e-06	0	0	0	0	0	0.0002	1.801e-06	0	3.487e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5643.47	35	chr1	13778626	.	T	TGAAGAAGAA	5643.47	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.337;DP=909;ExcessHet=0.3672;FS=8.241;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.91;ReadPosRankSum=0.478;SOR=0.382	GT:AD:DP:GQ:PL	0/1:39,38:77:99:1679,0,1578	18	0	1	0
chr1	15445660	15445660	G	A	exonic	CTRC	.	nonsynonymous SNV	CTRC:NM_007272:exon7:c.G703A:p.V235I	.	415	1086	21	0	0	21	0.00957592	.	.	YES	277389	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	0.138657935058	7.7e-05	0.00119808	0.0012	9.625e-05	0.0005	0	0	0.0003	0	0.0068	0.0009832	152	154602	rs140993290	0.0007	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	0.0003	0.0002	0.0005	0	3.744e-05	0.0050	0.0002	0.0005	0.0079	0.0005	0.0005	0.0003	0.0007	0.0083	0.0004	0.0004	0.0063	0.0056	9.624e-05	0	6.538e-05	0.0014	0.0002	0	0.0034	0.0003	0.0009	0.0083	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.969	0.72001	D	0.000067	0.52346	D	0.126644	0.999064	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-0.93	0.24898	N	0.524	0.55366	0.983	0.96904	D	0.897	0.96582	D	10	0.025823325	0.00765	T	0.138658	0.82115	D	0.797	0.93346	.	.	0.824012481446	0.82234	0.5726204761015677	0.57190	0.633953125668	0.57268	0.422646105289	0.28200	T	0.259948	0.63127	T	-0.0207142	0.48752	T	0.201614	0.83215	D	0.0184037413051345	0.00557	T	0.783522	0.42019	T	0.6675369	0.76301	0.7689695	0.86357	0.6858084	0.77285	0.71754605	0.83327	-10.422	0.76398	D	0.3872254015445177	0.48088	0.208	0.43448	B	.	.	4.622077	0.73408	26.0	0.99874658187836918	0.95160	0.96887	0.71481	D	AEFGBI	0.763965	0.70090	D	0.623640137267991	0.74673	6.172706	0.536749447529981	0.70482	5.51161	0.996679899047473	0.34917	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.38	4.38	0.52019	3.662000	0.54249	11.510000	0.92999	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	16.050	0.80559	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin 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	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.003788	0.05263	2642.83	38	chr1	15445660	.	G	A	2642.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.66;DP=916;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.496;SOR=0.686	GT:AD:DP:GQ:PL	0/1:77,58:135:99:1439,0,1865	17	0	2	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:385,188:573:99:.:.:4406,0,10538:.	1	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:522,233:755:99:.:.:5112,0,14191:.	1	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:518,182:700:99:4479,0,16686	5	0	14	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.1579	6385.4	688	chr1	16564112	.	G	A	6385.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.15;DP=12222;ExcessHet=2.0135;FS=0.79;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=56.12;MQRankSum=3.11;QD=1.39;ReadPosRankSum=1.26;SOR=0.749	GT:AD:DP:GQ:PL	0/1:612,78:690:99:525,0,23717	13	0	6	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:332,180:512:99:.:.:4566,0,11848:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:290,210:500:99:5514,0,10051	0	0	19	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:358,52:410:99:368,0,10058	7	0	12	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,18:101:99:0|1:16579293_A_G:490,0,3424:16579293	4	0	15	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,18:101:99:0|1:16579293_A_G:490,0,3424:16579293	4	0	15	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,12:96:99:.:.:212,0,2535:.	6	0	13	0
chr1	16758878	16758878	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.G1318A:p.G440R	.	362	1157	3	0	0	3	0.00129478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.0016	0.0020	0.0003	0.0006	0.0003	0.0020	0.0011	0.0022	0.0003842	10	26028	rs2092130	0.0013	0.0042	0.0013	0.0013	0.0021	0.0012	0.0012	0.0014	0.0013	0.0013	0.0003	0.0002	0.0003	0.0001	0.0021	0.0014	0.0012	0.0013	0.0016	0.0041	0.0017	0.0014	0.0019	0.0014	0.0013	0.0017	0.0016	0.0013	0	0.0017	0.0012	0.0010	0.0003	0.0036	0.0019	0.0020	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1105.33	50	chr1	16758878	.	C	T	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.84;DP=2904;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.51;MQRankSum=1.23;QD=2.23;ReadPosRankSum=0.262;SOR=0.807	GT:AD:DP:GQ:PL	0/1:416,80:496:99:1119,0,11984	18	0	1	0
chr1	16929959	16929959	C	G	exonic	CROCC	.	stopgain	CROCC:NM_014675:exon4:c.C465G:p.Y155X	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0005	0.0003	0	0.0005	0	0.0001	0.0001229	19	154602	rs766925565	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	9.015e-05	0.0001	0	0.0004	2.072e-05	0	0.0004	0.0004	6.085e-05	0.0004	0.0004	0.0004	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	0.0002	0	0.0004	0	0.0004	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34374	0.86083	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.213409	0.96274	35	0.99710998587402588	0.81353	0.96570	0.69802	D	AEFDBHCI	0.076331	0.15352	N	0.846308291877487	0.88898	9.754555	0.720228423302771	0.83913	8.148594	0.999999999999981	0.74766	0.751926	0.98777	0	0.588066	0.40923	0	0.639134	0.45391	0	0.491896	0.07777	0	.	.	5.17	5.17	0.70848	5.425000	0.66208	1.376000	0.25995	-0.178000	0.10482	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	17.246	0.86912	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1104.33	39	chr1	16929959	.	C	G	1104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.537;DP=721;ExcessHet=0;FS=9.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-1.859;QD=17.81;ReadPosRankSum=1.19;SOR=0.299	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,29:62:99:0|1:16929959_C_G:1118,0,1289:16929959	18	0	1	0
chr1	16929960	16929960	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon4:c.C466T:p.R156W	.	0	225	1	0	0	1	0.00221729	.	.	.	3239058	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0233535399934	.	.	0.0004	0.0002	0.0005	0.0008	0	0.0005	0	0.0001	0.0001358	21	154602	rs752300095	0.0003	0.0004	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0001	0.0001	0	0.0005	2.073e-05	0	0.0004	0.0004	6.086e-05	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0.0003	0	0.0004	0	0.0004	0	0	0.0006	0	0	0.002	0.72154	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	0.999602	0.47795	D	.	.	.	2.72	0.11947	T	-4.61	0.79060	D	0.414	0.45426	-1.1651	0.00640	T	0.053	0.22346	T	9	0.17235202	0.32004	T	0.023354	0.46316	T	0.207	0.49555	.	.	0.42526943336	0.42144	0.19091276702414528	0.19009	0.298638160844	0.32241	0.614079236984	0.54893	T	.	.	.	-0.33943	0.05427	T	-0.39328	0.34167	T	0.21941904139319	0.21435	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.48438	B	.	.	5.099877	0.85202	28.5	0.99806294225873426	0.89085	0.92173	0.55108	D	AEFDBHCI	0.562307	0.56995	D	0.532582241195126	0.69028	5.299256	0.541568256225612	0.70811	5.560638	0.999999989122924	0.74766	0.751926	0.98777	0	0.588066	0.40923	0	0.639134	0.45391	0	0.491896	0.07777	0	.	.	5.17	4.19	0.48645	3.925000	0.56198	3.369000	0.37918	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.3857:0.6143:0.0:0.0	10.028	0.41254	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1104.33	39	chr1	16929960	.	C	T	1104.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.778;DP=720;ExcessHet=0;FS=9.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.85;MQRankSum=-1.859;QD=17.81;ReadPosRankSum=1.34;SOR=0.299	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,29:62:99:0|1:16929959_C_G:1118,0,1289:16929959	18	0	1	0
chr1	16965851	16965851	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon28:c.C4534T:p.R1512W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.315579139493	0.0002	0.000199681	0.0002	0.0001	0.0006	0	0	0.0003	0	0	0.000194	30	154602	rs144701609	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0	0.0004	0	0.0001	1.892e-05	0	0.0003	0.0002	4.637e-05	0.0002	0.0002	0.0003	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	7.216e-05	0	0.0001	0	0	0	0	0.0004	0.0005	0	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.914836	0.36510	D	.	.	.	0.36	0.57880	T	-7.14	0.94073	D	0.469	0.50508	-0.3145	0.74577	T	0.310	0.68076	T	9	0.339226	0.51013	T	0.315579	0.91318	D	0.188	0.46444	.	.	0.734323642297	0.73195	0.29359559038256294	0.29272	0.529060001506	0.50466	0.524001181126	0.42189	T	.	.	.	-0.226779	0.17077	T	-0.257552	0.49069	T	0.329826473678702	0.26218	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26419	B	.	.	4.795353	0.77860	26.8	0.99916495496906144	0.98449	0.86072	0.45286	D	AEFBI	0.578125	0.57945	D	0.327836702030906	0.57581	3.926043	0.189686706618893	0.49279	3.13318	0.895271065434981	0.25950	0.719381	0.83141	0	0.588066	0.40923	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.48	2.42	0.28720	1.936000	0.39812	0.566000	0.19559	0.539000	0.25131	0.999000	0.42656	0.344000	0.24438	0.811000	0.38219	0.3145:0.6855:0.0:0.0	11.629	0.50421	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1018.33	33	chr1	16965851	.	C	T	1018.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=738;ExcessHet=0;FS=13.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.692;SOR=1.1	GT:AD:DP:GQ:PL	0/1:48,37:85:99:1032,0,1118	18	0	1	0
chr1	22509178	22509178	T	C	exonic	ZBTB40	.	nonsynonymous SNV	ZBTB40:NM_001330398:exon7:c.T1442C:p.I481T,ZBTB40:NM_014870:exon9:c.T1778C:p.I593T,ZBTB40:NM_001083621:exon10:c.T1778C:p.I593T	.	0	1520	1	1	0	3	0.000985869	.	.	.	3624358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.166	0.0301503009483	.	.	6.589e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs202173272	3.899e-05	3.967e-05	2.859e-05	4.95e-05	0.0029	3.047e-05	2.783e-05	0.0019	0.0015	0	0	0	0	0	0.0029	1.888e-05	9.935e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.717	0.04972	T	0.53	0.10103	T	0.0	0.02946	B	0.0	0.01387	B	0.000881	0.00704	N	4.597950	1	0.08975	N	-0.55	0.02420	N	-1.53	0.81559	D	0.8	0.01921	N	0.022	0.02759	-0.8678	0.50694	T	0.158	0.49094	T	10	0.037995398	0.02189	T	0.03015	0.52519	D	0.166	0.42578	0.398	0.42590	0.298403945805	0.29456	0.22663466516955325	0.22578	0.145711389982	0.16455	0.250009536743	0.03769	T	0.012084	0.10683	T	-0.344065	0.05111	T	-0.601551	0.12681	T	0.00982211081385681	0.00129	T	0.435856	0.11948	T	0.0115309805	0.00018	0.024997286	0.00530	0.0115309805	0.00018	0.024997286	0.00530	-2.082	0.03507	T	.	.	0.049	0.00478	B	.;.;.;.	.;.;.;.	-1.470550	0.00313	0.005	0.31080034524993605	0.01733	0.00865	0.03436	N	AEFDBI	0.017057	0.00423	N	-2.26412754659505	0.00055	0.002353492	-2.33439451712018	0.00056	0.002439534	0.999989136490341	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.95	-11.9	0.00018	-2.694000	0.00900	-5.841000	0.01578	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0859:0.197:0.1659:0.5513	5.204	0.14606	861	0.33516	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1127.33	33	chr1	22509178	.	T	C	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.051;DP=744;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.323;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,46:99:99:0|1:22509178_T_C:1141,0,1351:22509178	18	0	1	0
chr1	23091677	23091677	G	A	exonic	LUZP1	.	nonsynonymous SNV	LUZP1:NM_001142546:exon3:c.C2585T:p.A862V,LUZP1:NM_033631:exon4:c.C2585T:p.A862V	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.009293190398	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488703891	6.157e-06	6.156e-06	0	1.238e-05	0.0002	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	0	1.159e-05	1.315e-05	1.313e-05	1.286e-05	1.346e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.004	0.65419	D	0.158	0.31629	T	0.037	0.20876	B	0.014	0.16862	B	0.006160	0.32237	N	0.142496	0.999341	0.21331	N	0	0.06538	N	2.76	0.13916	T	-0.93	0.26422	N	0.166	0.17553	-1.0108	0.26666	T	0.020	0.08360	T	10	0.07973838	0.12862	T	0.009293	0.24389	T	0.047	0.12962	0.162	0.06618	0.238705975628	0.23479	0.16749384221308455	0.16669	0.214056953562	0.23940	0.323909163475	0.14013	T	0.085603	0.37538	T	-0.317388	0.07114	T	-0.596828	0.13080	T	0.352422416210175	0.27114	T	0.738826	0.35731	T	0.084524	0.19568	0.087980956	0.20486	0.084524	0.19568	0.087980956	0.20485	-4.306	0.28260	T	.	.	0.097	0.18037	B	.;.;.	.;.;.	2.484659	0.32044	18.92	0.99337148660395114	0.60012	0.84486	0.43568	D	AEFBI	0.108234	0.21537	N	-0.537644528084329	0.20873	1.10359	-0.323713187353771	0.27335	1.516059	0.99896239140688	0.38084	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.28	4.36	0.51643	0.716000	0.25508	2.365000	0.32395	-0.326000	0.05813	0.842000	0.30316	0.989000	0.31174	0.819000	0.38590	0.0:0.833:0.167:0.0	13.245	0.59445	832	0.38914	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1845.33	105	chr1	23091677	.	G	A	1845.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.839;DP=1710;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=2.3;SOR=0.614	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1859,0,1962	18	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,42:43:99:1|1:26282291_C_T:1863,120,0:26282291	9	4	6	0
chr1	26344556	26344556	T	C	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.A2102G:p.D701G	.	426	1083	13	0	0	13	0.00596604	.	.	.	3239258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0030	0.0017	0	0	0	0.0057	0	0.0023	0.0009638	149	154602	rs199647245	0.0035	0.0033	0.0035	0.0034	0.0060	0.0034	0.0034	0.0044	0.0038	0.0006	0.0028	0.0020	0	0.0005	0.0060	0.0040	0.0034	0.0018	0.0030	0.0030	0.0029	0.0031	0.0058	0.0028	0.0027	0.0048	0.0045	0.0007	0	0.0058	0.0017	0	0.0005	0.0034	0.0045	0.0057	0.0021	.	.	.	0.26	0.23029	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	0.005120486	0.00111	T	.	.	.	.	.	.	.	0.563948154196	0.56057	0.09080917579449849	0.09013	.	.	0.261729449034	0.05099	T	.	.	.	-0.575919	0.00204	T	-0.598953	0.12899	T	.	.	.	0.424958	0.11391	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.12084	B	.;.;.	.;.;.	-0.246383	0.02861	0.404	0.77606991183132512	0.11946	0.00651	0.02833	N	AEFBI	.	.	.	.	.	.	.	.	.	0.69739734522868	0.22657	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0755104	0.17533	4.79	-6.05	0.01988	-1.143000	0.03311	-2.148000	0.04142	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.0:0.1275:0.1045:0.768	9.985	0.41008	358	0.85037	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.007797	0.015789	0.000000	0.000000	0.000000	0.000000	0.013761	0.008772	0.02632	1912.33	116	chr1	26344556	.	T	C	1912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=1728;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=1.2;SOR=0.62	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1926,0,2002	18	0	1	0
chr1	30874503	30874503	A	G	exonic	SDC3	.	nonsynonymous SNV	SDC3:NM_014654:exon4:c.T956C:p.L319P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0089981601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.29554	T	0.288	0.21144	T	0.029	0.19866	B	0.043	0.24256	B	0.034535	0.24758	N	0.264673	0.999995	0.58761	D	0.345	0.11182	N	1.86	0.24285	T	-1.28	0.32185	N	0.171	0.20129	-1.0678	0.09903	T	0.032	0.13679	T	10	0.15684229	0.29531	T	0.008998	0.23702	T	0.066	0.19193	0.486	0.56939	0.0675242888579	0.06100	0.4410987517300895	0.44026	0.107582986679	0.12137	0.614895343781	0.55007	T	0.224717	0.58924	T	-0.168908	0.25401	T	-0.480401	0.24405	T	0.402903013743265	0.29051	T	0.751525	0.37371	T	0.21559717	0.43996	0.2139758	0.45930	0.21559717	0.43996	0.2139758	0.45929	-6.19	0.47842	T	.	.	0.216	0.44540	B	.;.	.;.	3.908537	0.56988	23.8	0.99759961821388821	0.85011	0.94127	0.60194	D	AEFDBI	0.869554	0.79014	D	-0.330054006808246	0.28010	1.541537	-0.155631872855687	0.33192	1.896153	0.995190107933657	0.33999	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	4.84	3.69	0.41483	4.138000	0.57780	9.167000	0.79017	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.9132:0.0:0.0868:0.0	10.691	0.45067	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1423.33	34	chr1	30874503	.	A	G	1423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.016;DP=761;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.923;SOR=0.614	GT:AD:DP:GQ:PL	0/1:63,58:121:99:1437,0,1826	18	0	1	0
chr1	34757760	34757760	G	A	exonic	GJB5	.	nonsynonymous SNV	GJB5:NM_005268:exon2:c.G430A:p.A144T	.	166	1355	1	0	0	1	0.000368868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0871089989508	.	0.000998403	0.0002	0.0005	0	0	0	4.504e-05	0	0.0011	0.0002005	31	154602	rs184440385	8.004e-05	8.003e-05	5.581e-05	0.0001	0.0009	6.801e-05	6.355e-05	0.0008	0.0007	0.0006	0	0	0	5.628e-05	0	8.993e-06	6.623e-05	0.0009	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0.0007	0	0	0	0	9.459e-05	0	1.471e-05	0	0.0015	0.417	0.09927	T	0.316	0.19362	T	0.007	0.14184	B	0.003	0.08700	B	0.734790	0.09825	N	0.892782	1	0.08975	N	0.82	0.20857	L	-3.82	0.95761	D	-0.72	0.20358	N	0.049	0.02088	-0.4541	0.70264	T	0.691	0.89327	D	10	0.026305467	0.00800	T	0.087109	0.74870	D	0.256	0.56694	.	.	0.517709844387	0.51413	0.6588218637646434	0.65819	0.121191469137	0.13650	0.263433635235	0.05306	T	0.490715	0.81539	T	-0.312933	0.07493	T	-0.262816	0.48543	T	0.00757902408451085	0.00088	T	0.159784	0.01435	T	0.04244413	0.06437	0.08256342	0.18852	0.04244413	0.06436	0.08256342	0.18852	-4.578	0.31894	T	.	.	0.069	0.02993	B	.	.	1.115538	0.15011	11.51	0.87629365474475451	0.17365	0.05555	0.11452	N	AEFBI	0.072487	0.14468	N	-1.39936930833923	0.02645	0.1170754	-1.47916667185635	0.02516	0.1158229	0.999997813965024	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.89	-6.65	0.01630	-0.219000	0.09233	-0.998000	0.06656	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.153000	0.20410	0.6081:0.0:0.3919:0.0	15.907	0.79222	910	0.22284	Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	3392.33	33	chr1	34757760	.	G	A	3392.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=894;ExcessHet=0;FS=5.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.288;SOR=0.433	GT:AD:DP:GQ:PL	0/1:108,129:237:99:3406,0,2442	18	0	1	0
chr1	42473203	42473206	TGTT	-	exonic	PPCS	.	frameshift deletion	PPCS:NM_001287511:exon3:c.694_697del:p.C232Wfs*9	.	550	970	2	0	0	2	0.00102987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs566586563	9.082e-05	6.977e-05	8.074e-05	0.0001	0.0040	7.624e-05	7.005e-05	0.0033	0.0030	0	0.0002	0	0	0	0.0003	1.196e-05	0.0001	0.0040	0.0001	0.0001	0.0001	0.0002	0.0039	9.736e-05	8.251e-05	0.0026	0.0021	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	979.29	42	chr1	42473202	.	CTGTT	C	979.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.794;DP=700;ExcessHet=0;FS=3.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.725;SOR=0.911	GT:AD:DP:GQ:PL	0/1:33,26:59:99:993,0,1307	18	0	1	0
chr1	50419077	50419077	A	T	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.T1217A:p.L406Q	.	338	1164	19	1	0	21	0.00893997	.	.	.	1328078	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	.	.	.	0.0033	0	0	0	.	0.0217	0	0.0019	0.0002135	33	154602	rs184374125	0.0035	0.0030	0.0035	0.0036	0.0122	0.0035	0.0034	0.0091	0.0080	0.0004	0.0051	0.0022	0	0.0003	0.0122	0.0037	0.0042	0.0032	0.0026	0.0026	0.0026	0.0026	0.0040	0.0024	0.0023	0.0036	0.0035	0.0008	0	0.0035	0.0017	0	0.0004	0.0139	0.0040	0.0058	0.0025	0.215	0.19293	T	0.575	0.08654	T	0.968	0.56581	D	0.452	0.46163	P	0.096254	0.20085	N	0.261257	0.605196	0.30907	N	1.24	0.30952	L	1.46	0.32238	T	0.47	0.03090	N	0.325	0.36569	-1.1222	0.02197	T	0.003	0.00994	T	10	0.006879717	0.00156	T	.	.	.	0.098	0.28162	.	.	0.386234084001	0.38240	0.48112459390252194	0.48032	.	.	0.894849002361	0.95850	D	0.013539	0.11689	T	-0.46439	0.00922	T	-0.439985	0.28810	T	0.0531151546423992	0.06039	T	0.561144	0.19645	T	0.19138479	0.40763	0.24172303	0.49576	0.19138479	0.40763	0.24172303	0.49575	-5.351	0.40445	T	.	.	0.085	0.14431	B	.;.	.;.	2.922365	0.38803	20.8	0.9423790608236714	0.24499	0.94754	0.62215	D	AEFDBCI	0.413626	0.48322	N	-0.0920958920621304	0.37738	2.199965	-0.0951735304783025	0.35588	2.060809	0.998556655596953	0.37186	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.19	3.19	0.35720	1.171000	0.31505	8.183000	0.76780	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.612000	0.31691	1.0:0.0:0.0:0.0	10.118	0.41774	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	0.017751	0.014286	0.044444	0.000000	0.000000	0.000000	0.021127	0.017241	0.07895	1280.79	23	chr1	50419077	.	A	T	1280.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.918;DP=540;ExcessHet=0.3672;FS=0.762;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-1.766;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,9:23:99:.:.:202,0,350:.	16	0	3	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	11397.8	13	chr1	50419106	.	G	*	11397.8	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.18;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=8;MLEAF=0.211;MQ=59.95;MQRankSum=0;QD=28.28;ReadPosRankSum=0.367;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,8:16:99:1|0:50419101_CCGGCGG_C:746,310,354:50419101	11	0	8	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	22297.6	33	chr1	54139645	.	T	TGC	22297.6	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.389;DP=1538;ExcessHet=0.1862;FS=2.641;InbreedingCoeff=0.2549;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.85;ReadPosRankSum=0.049;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,48:85:99:.:.:3246,1049,883:.	17	0	2	0
chr1	63402344	63402344	-	T	splicing	ALG6	NM_013339:exon4:c.257+1->T	.	.	Congenital disorder of glycosylation, type Ic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	541329	ALG6-congenital_disorder_of_glycosylation_1C	MONDO:MONDO:0011291,MedGen:C2930997,OMIM:603147,Orphanet:79320	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs745426479	1.587e-05	1.573e-05	6.872e-06	2.494e-05	0.0002	1.057e-05	8.83e-06	0.0001	0.0001	0	0	0	0	0	0.0002	2.723e-06	3.338e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	942.29	33	chr1	63402344	.	G	GT	942.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=687;ExcessHet=0;FS=8.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.116;SOR=1.667	GT:AD:DP:GQ:PL	0/1:39,32:71:99:956,0,1247	18	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	872.8	78	chr1	85158755	.	A	G	872.8	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.11;DP=1169;ExcessHet=0.7564;FS=87.916;InbreedingCoeff=-0.1339;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.15;ReadPosRankSum=0.078;SOR=8.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,26:71:99:.:.:349,0,1118:.	14	0	4	1
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	2786.57	79	chr1	85158757	.	C	G	2786.57	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-0.484;DP=1521;ExcessHet=8.9063;FS=149.533;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=0.467;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,19:67:99:.:.:314,0,1150:.	4	0	11	4
chr1	86489017	86489017	A	G	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon8:c.A1204G:p.T402A	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0216330771167	0.0012	0.000798722	0.0015	0.0003	0.0009	0	0	0.0020	0.0022	0.0022	0.0014165	219	154602	rs138472865	0.0013	0.0013	0.0012	0.0015	0.0033	0.0013	0.0013	0.0022	0.0018	0.0002	0.0007	0.0148	0	0.0004	0.0033	0.0010	0.0019	0.0022	0.0010	0.0010	0.0009	0.0010	0.0029	0.0008	0.0008	0.0018	0.0014	9.62e-05	0	0.0003	0.0153	0	9.434e-05	0.0034	0.0010	0.0005	0.0029	0.302	0.14400	T	0.505	0.11004	T	0.955	0.54515	P	0.714	0.54635	P	0.002154	0.37138	N	0.269718	1	0.08975	N	2.28	0.64929	M	-0.18	0.65747	T	-2.26	0.50502	N	0.35	0.39659	-0.9777	0.35526	T	0.119	0.41778	T	10	0.012068808	0.00261	T	0.021633	0.44424	T	0.175	0.44197	.	.	0.633545781819	0.63054	0.5853350931980922	0.58463	0.349758134559	0.36824	0.358265161514	0.19133	T	0.034696	0.23426	T	-0.430367	0.01475	T	-0.396827	0.33754	T	0.0706591572256433	0.08744	T	0.647535	0.25853	T	0.25249124	0.48265	0.15313177	0.35997	0.25249124	0.48265	0.15313177	0.35996	-5.525	0.42101	T	.	.	0.087	0.11269	B	.;.	.;.	3.168620	0.42966	21.6	0.97089024586738559	0.32315	0.40016	0.26342	N	AEFBCI	0.151706	0.27624	N	-0.150724483928656	0.35204	2.019106	-0.205261017013835	0.31346	1.773141	0.15622048438188	0.17521	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.185000	0.50635	9.288000	0.79769	0.756000	0.94297	0.639000	0.28076	1.000000	0.68203	0.158000	0.20581	0.7222:0.1417:0.0:0.1361	7.798	0.28324	746	0.52331	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.016304	0.002924	0.050000	0.017241	0.006098	0.015152	0.02632	1646.33	34	chr1	86489017	.	A	G	1646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.622;DP=718;ExcessHet=0;FS=1.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.272;SOR=0.482	GT:AD:DP:GQ:PL	0/1:39,66:105:99:1660,0,1034	18	0	1	0
chr1	86560319	86560319	C	T	exonic	CLCA4	.	nonsynonymous SNV	CLCA4:NM_012128:exon3:c.C409T:p.L137F	.	427	1070	24	1	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00244206833483	0.0008	0.000199681	0.0011	0.0002	0.0008	0	0	0.0016	0.0056	0.0010	0.0011125	172	154602	rs55712824	0.0010	0.0010	0.0010	0.0011	0.0322	0.0010	0.0010	0.0285	0.0270	0.0013	0.0018	0.0004	2.519e-05	3.744e-05	0.0322	0.0008	0.0023	0.0013	0.0011	0.0011	0.0012	0.0011	0.0024	0.0010	0.0009	0.0018	0.0016	0.0005	0.0044	0.0024	0.0009	0	9.425e-05	0.0238	0.0012	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000135	0.49741	N	0.175187	1	0.81001	D	-3.32	0.00005	N	3.15	0.07820	T	4.44	0.00038	N	0.113	0.10056	-0.9399	0.42632	T	0.001	0.00348	T	10	0.004258901	0.00085	T	0.002442	0.04813	T	0.048	0.13305	.	.	0.0297737177859	0.01360	0.38250703500181077	0.38165	0.0722242068583	0.08101	0.392732053995	0.24053	T	0.045084	0.27013	T	-0.646459	0.00076	T	-0.725997	0.04511	T	0.0125906612122404	0.00210	T	0.456654	0.13107	T	0.036146015	0.04390	0.04545757	0.06119	0.036146015	0.04390	0.04545757	0.06119	2.739	0.00027	T	.	.	0.057	0.00533	B	.	.	-0.329020	0.02492	0.292	0.13663901923835356	0.00276	0.07556	0.13568	N	AEFGBI	0.031100	0.03257	N	-1.18467785776454	0.05232	0.2380014	-0.903761612092136	0.12006	0.6150653	7.15270857349529E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.74	-0.186	0.12620	0.913000	0.28233	-0.401000	0.09410	-0.732000	0.03721	1.000000	0.71638	0.000000	0.08366	0.850000	0.40195	0.1139:0.0658:0.2095:0.6108	4.55	0.11507	808	0.43318	Calcium-activated chloride channel, 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	0.037261	0.050505	0.025815	0.087719	0.050000	0.077586	0.000000	0.018939	0.02632	1519.33	36	chr1	86560319	.	C	T	1519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=787;ExcessHet=0;FS=1.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.535;SOR=0.885	GT:AD:DP:GQ:PL	0/1:62,57:119:99:1533,0,1559	18	0	1	0
chr1	87084271	87084271	T	G	exonic	HS2ST1	.	nonsynonymous SNV	HS2ST1:NM_001134492:exon3:c.T441G:p.D147E,HS2ST1:NM_012262:exon3:c.T441G:p.D147E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0400668192228	.	0.000199681	4.139e-05	0	0	0	0	7.523e-05	0	0	3.88e-05	6	154602	rs571909404	2.781e-05	2.942e-05	2.355e-05	3.211e-05	3.383e-05	2.097e-05	1.846e-05	2.496e-05	2.179e-05	3.039e-05	0	0	0	0	0	3.383e-05	3.359e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.027	0.46513	D	0.089	0.47336	T	0.5	0.37145	P	0.336	0.42263	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.81	0.47622	L	-0.85	0.74371	T	-2.75	0.58407	D	0.982	0.99181	-0.5906	0.65197	T	0.247	0.61565	T	10	0.7588494	0.76190	D	0.040067	0.59167	D	0.609	0.84666	0.861	0.95829	0.933629599301	0.93294	0.8171040682307386	0.81666	0.756635898776	0.64038	0.78308314085	0.79393	T	0.812567	0.95331	D	0.178157	0.71873	D	0.204037	0.83349	D	0.382405943372336	0.28275	T	0.915508	0.69822	D	0.41327035	0.61641	0.26556066	0.52390	0.41327035	0.61642	0.26556066	0.52389	-9.818	0.72815	D	.	.	0.603	0.69016	P	.;.;.;.	.;.;.;.	3.374112	0.46641	22.3	0.99137984930524847	0.53437	0.88182	0.47997	D	ALL	0.640894	0.61842	D	0.136869522453242	0.48190	3.034529	0.219221268009919	0.50913	3.278654	0.999744461761775	0.42466	0.758104	0.99027	0	0.774882	0.99574	0	0.658983	0.55881	0	0.665031	0.64506	0	.	.	5.81	4.68	0.58319	2.382000	0.43999	2.386000	0.32514	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1535:0.0:0.8465	9.435	0.37800	517	0.74620	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	493.33	41	chr1	87084271	.	T	G	493.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.762;DP=748;ExcessHet=0;FS=2.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.33;SOR=0.7	GT:AD:DP:GQ:PL	0/1:23,22:45:99:507,0,622	18	0	1	0
chr1	88983540	88983540	G	A	exonic	RBMXL1	.	nonsynonymous SNV	RBMXL1:NM_019610:exon2:c.C287T:p.P96L,RBMXL1:NM_001162536:exon3:c.C287T:p.P96L	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00740590457601	.	0.000599042	0.0007	9.612e-05	0.0002	0	0	1.498e-05	0	0.0046	0.0005369	83	154602	rs530375965	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	5.974e-05	4.472e-05	0	0	0	0.0002	4.496e-06	0.0004	0.0055	0.0002	0.0002	6.425e-05	0.0003	0.0046	0.0001	9.698e-05	0.0031	0.0026	7.221e-05	0	0	0	0	0	0	0	0	0.0046	0.055	0.38407	T	0.112	0.37037	T	0.176	0.28893	B	0.016	0.17743	B	0.000000	0.84330	U	0.000000	1	0.81001	D	1.18	0.29980	L	-0.79	0.73739	T	-3.23	0.65056	D	0.232	0.26354	-1.0652	0.10502	T	0.113	0.40399	T	10	0.00784272	0.00178	T	0.007406	0.19657	T	0.133	0.36157	0.274	0.22528	0.51058355623	0.50700	0.3378849448248356	0.33701	0.407775190344	0.41625	0.58545589447	0.50854	T	0.072781	0.34538	T	-0.0542543	0.43800	T	-0.315709	0.43042	T	0.108613739184792	0.13279	T	0.60154	0.25169	T	0.11085181	0.26199	0.09576657	0.22728	0.11085181	0.26199	0.09576657	0.22727	-8.759	0.66132	D	.	.	0.079	0.12084	B	.;.;.	.;.;.	2.128883	0.27101	17.35	0.69473496852979943	0.08984	0.62528	0.31808	D	AEFDBCI	0.101745	0.20428	N	-0.636241439720945	0.17864	0.9228361	-0.695080462839466	0.17082	0.9067481	0.99941735957277	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.76	0.688	0.17190	4.852000	0.62602	2.881000	0.35329	0.269000	0.18496	1.000000	0.71638	0.999000	0.35428	0.034000	0.13613	0.0:0.0:0.6507:0.3493	5.054	0.13861	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1216.33	37	chr1	88983540	.	G	A	1216.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.75;DP=1027;ExcessHet=0;FS=3.887;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.82;MQRankSum=3.23;QD=10.96;ReadPosRankSum=1.05;SOR=0.395	GT:AD:DP:GQ:PL	0/1:67,44:111:99:1230,0,1809	18	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	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,19:144:99:0|1:99884396_T_C:163,0,4377:99884396	4	0	15	0
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,13:93:58:0|1:110222978_C_G:58,0,2961:110222978	8	0	11	0
chr1	112922048	112922048	A	C	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon3:c.T303G:p.I101M,SLC16A1:NM_003051:exon3:c.T303G:p.I101M	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	0	1506	15	1	0	17	0.00561241	.	.	.	761080	SLC16A1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.233	0.0543749380813	0.0002	0.000399361	0.0008	0	0.0003	0	0	0.0001	0	0.0049	0.0006404	99	154602	rs148691598	0.0003	0.0003	0.0002	0.0005	0.0041	0.0003	0.0003	0.0037	0.0036	0	4.472e-05	0.0003	0	0	0.0016	8.183e-05	0.0005	0.0041	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	2.404e-05	0	6.533e-05	0.0006	0	0	0	0.0002	0	0.0023	0.002	0.78490	D	0.024	0.56640	D	0.571	0.38591	P	0.507	0.47859	P	0.000002	0.62929	D	0.102292	0.995346	0.42649	D	2.48	0.72069	M	1.21	0.37230	T	-2.04	0.49187	N	0.594	0.61680	-1.0293	0.20681	T	0.073	0.29675	T	10	0.010250062	0.00229	T	0.054375	0.65832	D	0.233	0.53499	.	.	0.454402166774	0.45062	0.5125292038885104	0.51174	0.715118187512	0.61921	0.432378649712	0.29534	T	0.375189	0.73884	T	-0.33239	0.05932	T	-0.250102	0.49808	T	0.130130839262335	0.15394	T	.	.	.	0.48254606	0.66054	0.42806867	0.66532	0.48254606	0.66055	0.42806867	0.66532	-5.767	0.44286	T	.	.	0.114	0.32299	B	.;.;.;.;.	.;.;.;.;.	1.735486	0.22085	15.47	0.99217846312231561	0.55808	0.31447	0.24340	N	AEFGBI	0.329779	0.43002	N	-0.499304006188602	0.22103	1.177903	-0.612055445080798	0.19182	1.028107	0.942524458115551	0.27526	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.631631	0.49550	0	.	.	5.9	-0.716	0.10647	-0.432000	0.07026	-0.973000	0.06739	-0.113000	0.14837	0.042000	0.21073	0.000000	0.08366	0.503000	0.29084	0.5312:0.0:0.3519:0.1169	5.980	0.18635	787	0.46738	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	687.33	33	chr1	112922048	.	A	C	687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.733;SOR=0.683	GT:AD:DP:GQ:PL	0/1:47,29:76:99:701,0,1151	18	0	1	0
chr1	113643746	113643746	C	T	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon11:c.C1970T:p.P657L,MAGI3:NM_152900:exon11:c.C1970T:p.P657L	.	428	1092	2	0	0	2	0.000914913	.	.	.	3277696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0146952979715	.	.	8.237e-05	0	8.639e-05	0	0	8.991e-05	0	0.0002	6.47e-05	10	154602	rs776447798	3.626e-05	3.694e-05	3.268e-05	3.989e-05	0.0005	2.829e-05	2.565e-05	0.0001	7.541e-05	0	6.712e-05	0	0	0	0.0005	3.148e-05	3.312e-05	0.0001	3.95e-05	3.941e-05	1.287e-05	6.735e-05	0.0004	1.718e-05	1.131e-05	7.318e-05	3.039e-05	0	0	0	0	0	0	0	4.414e-05	0.0005	0.0004	0.94	0.03044	T	0.829	0.05416	T	0.005	0.38321	B	0.012	0.34892	B	0.000067	0.52346	D	0.173541	1	0.81001	D	1.065	0.27018	L	1.01	0.41058	T	0.57	0.02638	N	0.652	0.66272	-1.0877	0.05925	T	0.040	0.17234	T	10	0.13674295	0.26014	T	0.014695	0.34987	T	0.090	0.26093	0.405	0.43738	0.043077524339	0.03247	0.2938041940126131	0.29293	0.295400472236	0.31942	0.5752825737	0.49421	T	.	.	.	-0.2443	0.14806	T	-0.329018	0.41578	T	0.168904542922974	0.18505	T	0.857714	0.54741	D	0.31296256	0.54041	0.12688674	0.30554	0.31296256	0.54041	0.12688674	0.30553	-9.05	0.68363	D	.	.	0.081	0.10159	B	.;.;.;.	.;.;.;.	4.122754	0.61634	24.4	0.73308433364062375	0.10281	0.98018	0.78912	D	AEFBI	0.529553	0.55062	D	-0.0285400114108962	0.40567	2.411253	0.167664976360889	0.48087	3.029348	0.995956578124789	0.34431	0.651	0.46895	0	0.573888	0.26702	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.34	5.34	0.75982	5.093000	0.64351	7.730000	0.67710	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.029	0.92928	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1448.33	44	chr1	113643746	.	C	T	1448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=763;ExcessHet=0;FS=2.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.739;SOR=0.884	GT:AD:DP:GQ:PL	0/1:71,60:131:99:1462,0,1747	18	0	1	0
chr1	113829956	113829956	A	T	exonic	PTPN22	.	nonsynonymous SNV	PTPN22:NM_012411:exon15:c.T1962A:p.D654E,PTPN22:NM_001308297:exon16:c.T2055A:p.D685E,PTPN22:NM_001193431:exon17:c.T2043A:p.D681E,PTPN22:NM_015967:exon17:c.T2127A:p.D709E	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00734612112316	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0010	0.0002264	35	154602	rs143703692	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	0	8.965e-05	0	0	0	0.0012	0.0001	0.0002	0.0007	0.0001	0.0001	9.001e-05	0.0001	0.0010	7.577e-05	6.282e-05	0.0004	0.0003	0	0	0	0	0	0	0.0034	0.0002	0.0005	0.0010	0.148	0.45393	T	0.339	0.27503	T	0.864	0.47514	P	0.321	0.41760	B	0.000077	0.52346	D	0.081904	0.681511	0.81001	D	.	.	.	3.72	0.10196	T	-2.19	0.49352	N	0.214	0.32591	-0.9971	0.30728	T	0.091	0.34710	T	10	0.048098445	0.04215	T	0.007346	0.19496	T	0.158	0.41098	0.125	0.03095	0.643351887025	0.64040	0.06498413452890517	0.06437	0.364002869966	0.38022	0.422649919987	0.28201	T	0.029261	0.24313	T	-0.284658	0.10179	T	-0.262195	0.48605	T	0.153718372421694	0.17396	T	0.758124	0.56501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.44319	B	.;.;.;.;.	.;.;.;.;.	2.357413	0.30230	18.37	0.99573516924591421	0.72561	0.70344	0.34552	D	AEFGBI	0.179982	0.30727	N	0.263410975271682	0.54304	3.596429	0.232805314838205	0.51676	3.348154	0.996029948566263	0.34476	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	6.03	2.38	0.28415	0.811000	0.26855	2.639000	0.33742	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.7793:0.0:0.2207:0.0	8.576	0.32761	653	0.62661	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	415.33	35	chr1	113829956	.	A	T	415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.227;SOR=0.655	GT:AD:DP:GQ:PL	0/1:21,16:37:99:429,0,461	18	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:83,65:158:99:553,0,892	3	0	16	0
chr1	146067235	146067235	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.G10582A:p.E3528K,NBPF10:NM_001302371:exon89:c.G11089A:p.E3697K	.	651	848	21	2	0	25	0.0145264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	0.3095	0.25	0	0	.	0.3557	0.5	0.25	0.0018826	49	26028	rs782346895	0.0009	0.0030	0.0007	0.0010	0.0046	0.0008	0.0008	0.0040	0.0037	0.0016	0.0017	0.0002	0.0046	0.0005	0.0010	0.0004	0.0011	0.0008	0.0005	0.0017	0.0005	0.0005	0.0016	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0006	0	0.0016	0.0002	0	0.0001	0.0007	0.0011	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.25867	.	.	.	.	.	.	.	0.028234512	0.00958	T	.	.	.	.	.	.	.	.	.	0.008707865764252615	0.00834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676832	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.52285	B	.;.	.;.	-0.114190	0.03558	0.685	.	.	.	.	.	.	0.017718	0.00484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.877000	0.04305	0.000000	0.13247	.	.	0.001000	0.13787	0.033000	0.21346	.	.	.	.	.	958	0.09170	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	0.089744	0.045455	0.224138	0.100000	0.000000	0.000000	0.076923	0.033333	0.05263	249.86	33	chr1	146067235	.	C	T	249.86	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.758;DP=520;ExcessHet=0.119;FS=3.623;InbreedingCoeff=-0.0566;MLEAC=2;MLEAF=0.053;MQ=41.8;MQRankSum=-3.791;QD=2.91;ReadPosRankSum=0.737;SOR=0.339	GT:AD:DP:GQ:PL	0/1:23,11:34:99:175,0,615	17	0	2	0
chr1	146992728	146992728	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon35:c.C3865G:p.L1289V	.	479	1034	9	0	0	9	0.00433317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000159896709696	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409621751	0.0005	0.0006	0.0005	0.0005	0.0036	0.0004	0.0004	0.0018	0.0013	0.0003	0.0003	0.0006	6.099e-05	2.497e-05	0.0036	0.0005	0.0005	0.0008	0.0003	0.0004	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	4.91e-05	0	0.0003	0.0003	0	0	0.0034	0.0005	0	0.0006	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	-0.9698	0.37242	T	0.007	0.02244	T	6	0.044184864	0.03347	T	2.05E-4	0.00004	T	.	.	.	.	0.0401082797425	0.02173	0.001112823523945474	0.00102	.	.	.	.	.	.	.	.	-0.221868	0.17740	T	-0.556475	0.16710	T	0.0235022489918267	0.01083	T	0.660434	0.28057	T	0.026182279	0.01644	0.06269495	0.12305	0.026182279	0.01644	0.06269495	0.12305	-9.76	0.72462	D	.	.	0.206	0.43158	B	.;.;.	.;.;.	-0.322806	0.02520	0.299	0.19348311514925037	0.00649	0.00107	0.00683	N	AEFI	0.034249	0.04210	N	-1.81070371161343	0.00519	0.0223586	-2.03500448643959	0.00258	0.01137968	1.35450918937016E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.754	-1.51	0.08207	0.188000	0.16826	-1.699000	0.04891	-0.882000	0.02455	0.016000	0.19238	0.000000	0.08366	0.003000	0.05239	0.2578:0.4861:0.256:0.0	3.597	0.07558	793	0.45818	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	650.83	30	chr1	146992728	.	C	G	650.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.451;DP=993;ExcessHet=0.119;FS=13.484;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=38.76;MQRankSum=2.55;QD=4.37;ReadPosRankSum=-0.878;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,17:66:99:0|1:146992728_C_G:312,0,1641:146992728	17	0	2	0
chr1	148118708	148118708	T	C	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon10:c.A1003G:p.K335E,NBPF11:NM_001385470:exon10:c.A1003G:p.K335E,NBPF11:NM_001385477:exon10:c.A778G:p.K260E,NBPF11:NM_001385480:exon10:c.A778G:p.K260E,NBPF11:NM_001101663:exon11:c.A1003G:p.K335E,NBPF11:NM_001385469:exon11:c.A1003G:p.K335E,NBPF11:NM_001385475:exon11:c.A1003G:p.K335E,NBPF11:NM_001385479:exon11:c.A778G:p.K260E,NBPF11:NM_183372:exon11:c.A1003G:p.K335E,NBPF11:NM_001385471:exon12:c.A1003G:p.K335E,NBPF11:NM_001385474:exon12:c.A1003G:p.K335E,NBPF11:NM_001385478:exon12:c.A778G:p.K260E,NBPF11:NM_001385472:exon13:c.A1003G:p.K335E,NBPF11:NM_001385473:exon13:c.A1003G:p.K335E,NBPF11:NM_001385476:exon13:c.A1003G:p.K335E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000896431306332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	8.893e-06	9.535e-06	6.88e-06	0.0004	4.38e-06	3.46e-06	6.855e-05	2.867e-05	0	2.236e-05	0	0	0	0.0004	5.397e-06	0	3.48e-05	6.59e-06	6.568e-06	1.288e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.423	0.23365	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.485	0.37223	L	.	.	.	.	.	.	0.062	0.03392	-0.8770	0.49997	T	0.003	0.01059	T	8	0.034911126	0.01718	T	0.001159	0.01459	T	.	.	0.358	0.36060	0.497806138765	0.49414	0.020590533355745233	0.02012	.	.	.	.	.	0.025161	0.18867	T	-0.197539	0.21160	T	-0.521527	0.20141	T	0.0406361076736253	0.03805	T	0.684832	0.29327	T	0.15266363	0.34644	0.17835844	0.40500	0.15266363	0.34643	0.17835844	0.40499	-7.158	0.55179	T	.	.	0.119	0.43393	B	.;.;.;.	.;.;.;.	-0.141986	0.03399	0.614	0.24043567785313869	0.01044	0.00231	0.01293	N	AEFI	0.031229	0.03294	N	-1.82943543715609	0.00477	0.02053445	-1.97144013429089	0.00351	0.01552052	6.74544609933902E-4	0.07599	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.118	-0.237	0.12417	0.001000	0.12940	0.159000	0.15383	-0.931000	0.02145	0.003000	0.16062	0.000000	0.08366	0.033000	0.13494	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2174.33	40	chr1	148118708	.	T	C	2174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.089;DP=937;ExcessHet=0;FS=1.028;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.84;MQRankSum=-3.293;QD=9.33;ReadPosRankSum=-0.623;SOR=0.609	GT:AD:DP:GQ:PL	0/1:127,106:233:99:2188,0,3184	18	0	1	0
chr1	148126985	148126985	G	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon4:c.C19T:p.P7S,NBPF11:NM_001385470:exon4:c.C19T:p.P7S,NBPF11:NM_001101663:exon5:c.C19T:p.P7S,NBPF11:NM_001385469:exon5:c.C19T:p.P7S,NBPF11:NM_001385475:exon5:c.C19T:p.P7S,NBPF11:NM_183372:exon5:c.C19T:p.P7S,NBPF11:NM_001385471:exon6:c.C19T:p.P7S,NBPF11:NM_001385474:exon6:c.C19T:p.P7S,NBPF11:NM_001385472:exon7:c.C19T:p.P7S,NBPF11:NM_001385473:exon7:c.C19T:p.P7S,NBPF11:NM_001385476:exon7:c.C19T:p.P7S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000460740859465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.491e-06	3.981e-06	6.428e-06	2.802e-06	7.342e-06	1.2e-06	3.3e-07	1.95e-06	5.4e-07	0	0	0	0	0	0	7.342e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	2.175	0.60977	M	.	.	.	.	.	.	0.109	0.09490	-1.0423	0.16621	T	0.020	0.08500	T	7	0.124608755	0.23670	T	4.61E-4	0.00116	T	.	.	0.344	0.33788	0.0920862733494	0.08535	0.013460249757540281	0.01304	.	.	.	.	.	0.014171	0.12117	T	-0.171219	0.25050	T	-0.48372	0.24051	T	0.140348342900473	0.16306	T	0.908809	0.67676	D	0.045333724	0.07402	0.10129385	0.24245	0.045333724	0.07401	0.10129385	0.24244	-6.788	0.52470	T	.	.	0.178	0.38836	B	.;.;.	.;.;.	0.169536	0.05586	2.043	0.47452489419934113	0.03881	0.00290	0.01555	N	AEFI	0.039482	0.05742	N	-0.530197244455253	0.21109	1.117827	-0.848689221736056	0.13319	0.6902935	1.11536234223363E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.118	0.118	0.13972	-3.092000	0.00670	-20.000000	0.00162	-1.320000	0.01227	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	675.33	21	chr1	148126985	.	G	A	675.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.32;DP=612;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.64;MQRankSum=-0.86;QD=19.3;ReadPosRankSum=1.26;SOR=0.869	GT:AD:DP:GQ:PL	0/1:16,19:35:99:689,0,531	18	0	1	0
chr1	148533164	148533164	G	C	exonic	NBPF14	.	stopgain	NBPF14:NM_015383:exon66:c.C8301G:p.Y2767X	.	792	726	4	0	0	4	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.307e-05	0	0	0	0	4.497e-05	0	6.056e-05	.	.	.	rs1461452258	0.0016	0.0012	0.0015	0.0016	0.0194	0.0015	0.0015	0.0149	0.0133	0.0014	0.0036	0.0072	0	3.319e-05	0.0194	0.0013	0.0031	0.0013	0.0017	0.0016	0.0015	0.0019	0.0027	0.0015	0.0014	0.0017	0.0014	0.0008	0	0.0027	0.0052	0	0	0.0282	0.0017	0.0118	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999925	0.54805	D	.	.	.	.	.	.	.	.	.	0.193	0.34228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203067	0.74179	D	0.117561	0.78073	D	0.748487114906311	0.43201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.803417	0.93624	33	0.90715762551554557	0.19965	0.00100	0.00648	N	AEFI	0.021612	0.00982	N	-0.37309071805878	0.26432	1.442484	-0.82933629948695	0.13786	0.7170012	4.46773967751996E-5	0.03989	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.445	-0.891	0.10038	0.914000	0.28246	-12.751000	0.00503	0.222000	0.18087	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	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;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	84.34	11	chr1	148533164	.	G	C	84.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.047;DP=251;ExcessHet=0;FS=0;InbreedingCoeff=-0.0278;MLEAC=1;MLEAF=0.026;MQ=31.68;MQRankSum=-0.432;QD=6.49;ReadPosRankSum=-0.817;SOR=1.329	GT:AD:DP:GQ:PL	0/1:9,4:13:98:98,0,277	18	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	20288.3	149	chr1	149075685	.	C	A	20288.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=2.68;DP=7243;ExcessHet=8.9063;FS=9.436;InbreedingCoeff=-0.4084;MLEAC=11;MLEAF=0.289;MQ=47.06;MQRankSum=-6.736;QD=3.71;ReadPosRankSum=-1.169;SOR=1.49	GT:AD:DP:GQ:PL	0/1:383,117:500:99:2077,0,10045	8	0	11	0
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q,NBPF9:NM_001277444:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	77.23	36	chr1	149079127	.	C	G	77.23	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.324;DP=580;ExcessHet=0.3672;FS=65.39;InbreedingCoeff=-0.085;MLEAC=2;MLEAF=0.053;MQ=35.5;MQRankSum=-1.552;QD=1.06;ReadPosRankSum=-1.25;SOR=5.668	GT:AD:DP:GQ:PL	0/1:22,3:25:9:9,0,750	16	0	3	0
chr1	150159129	150159129	G	A	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_001304723:exon5:c.G320A:p.R107Q,PLEKHO1:NM_001304724:exon5:c.G287A:p.R96Q,PLEKHO1:NM_001304722:exon6:c.G320A:p.R107Q,PLEKHO1:NM_016274:exon6:c.G836A:p.R279Q	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0066	0.00519169	0.0102	0.0021	0.0025	0.0001	0.0194	0.0116	0.0170	0.0160	0.0094307	1458	154602	rs41264971	0.0088	0.0088	0.0084	0.0092	0.0179	0.0087	0.0086	0.0172	0.0169	0.0009	0.0029	0.0022	0.0001	0.0215	0.0094	0.0085	0.0083	0.0179	0.0066	0.0066	0.0067	0.0065	0.0135	0.0063	0.0061	0.0109	0.0099	0.0016	0.0011	0.0021	0.0023	0	0.0193	0.0034	0.0091	0.0038	0.0135	0.054	0.47745	T	0.267	0.31225	T	0.905	0.49920	P	0.267	0.39770	B	0.014129	0.28625	N	0.351400	0.984405	0.40141	D	2.135	0.59519	M	0.72	0.50976	T	-1.43	0.35194	N	0.374	0.41557	-1.0613	0.11434	T	0.070	0.28577	T	10	0.0047944784	0.00101	T	.	.	.	0.075	0.21907	.	.	.	.	0.18990143602419438	0.18908	0.464578811842	0.45924	0.511497855186	0.40431	T	0.030915	0.44076	T	-0.406135	0.02109	T	-0.342536	0.40057	T	0.00607151602267701	0.00067	T	0.808919	0.46506	T	0.106724344	0.25235	0.06900925	0.14484	0.106724344	0.25235	0.06900925	0.14484	-3.939	0.22888	T	.	.	0.102	0.17869	B	.;.	.;.	3.784036	0.54430	23.5	0.99942678426939813	0.99848	0.83582	0.42690	D	ALL	0.714528	0.66698	D	0.357264008198067	0.59123	4.089313	0.408174213897655	0.62074	4.416803	0.99999999999741	0.74766	0.730579	0.87903	0	0.672317	0.65289	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	4.97	4.97	0.65419	3.396000	0.52309	11.733000	0.95036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.1598:0.8402:0.0	13.188	0.59118	330	0.86467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.010101	0.008152	0.005848	0.050000	0.000000	0.006098	0.022727	0.02632	834.33	35	chr1	150159129	.	G	A	834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=700;ExcessHet=0;FS=2.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.312;SOR=0.368	GT:AD:DP:GQ:PL	0/1:28,28:56:99:848,0,656	18	0	1	0
chr1	152111908	152111908	-	CTGCTCGTGCCTCTCCTCCTC	exonic	TCHH	.	nonframeshift insertion	TCHH:NM_007113:exon3:c.1308_1309insGAGGAGGAGAGGCACGAGCAG:p.Q436_K437insEEERHEQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.0318	0.0016	0.0001	0	3.026e-05	0.0022	0.0001	0.0001921	5	26028	rs759642994	0.0005	0.0004	0.0005	0.0004	0.0158	0.0004	0.0004	0.0146	0.0141	0.0158	0.0009	0	0.0002	0	0	3.27e-05	0.0014	0.0002	0.0021	0.0023	0.0023	0.0019	0.0079	0.0019	0.0018	0.0070	0.0067	0.0079	0	0.0010	0	0	0	0	0	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	455.29	44	chr1	152111908	.	T	TCTGCTCGTGCCTCTCCTCCTC	455.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.359;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.74;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.521;SOR=0.628	GT:AD:DP:GQ:PL	0/1:18,13:31:99:469,0,719	18	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1290.07	114	chr1	152214827	.	A	*	1290.07	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.362;DP=5607;ExcessHet=13.8672;FS=40.595;InbreedingCoeff=-0.5202;MLEAC=10;MLEAF=0.263;MQ=28.03;MQRankSum=2.54;QD=0.28;ReadPosRankSum=-5.241;SOR=10.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,24:245:99:0|1:152214821_T_A:270,0,9162:152214821	9	0	10	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	637.96	114	chr1	152214830	.	C	*	637.96	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0;DP=5543;ExcessHet=11.1788;FS=40.595;InbreedingCoeff=-0.4637;MLEAC=10;MLEAF=0.263;MQ=27.92;MQRankSum=1.43;QD=0.15;ReadPosRankSum=-5.927;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,24:245:99:0|1:152214821_T_A:270,0,9162:152214821	9	0	10	0
chr1	152308209	152308209	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6677T:p.G2226V	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	0.183307	0.0814	0.0632	0.1473	0.1924	0.0496	0.0461	0.0930	0.1461	0.0354234	922	26028	rs544807449	0.0005	0.0052	0.0005	0.0005	0.0130	0.0004	0.0004	0.0117	0.0113	0.0130	0.0008	0.0003	0.0046	0.0001	0.0013	5.441e-05	0.0017	0.0003	0.0018	0.0036	0.0016	0.0020	0.0088	0.0016	0.0015	0.0077	0.0072	0.0088	0	0.0005	0	0.0012	0.0004	0	5.587e-05	0.0015	0.0012	0.105	0.29823	T	.	.	.	0.868	0.47740	P	0.372	0.43610	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	3.29	0.06445	T	-2.19	0.49352	N	0.076	0.05037	-0.9736	0.36431	T	0.005	0.01578	T	9	0.0030772686	0.00051	T	.	.	.	0.165	0.42395	.	.	.	.	0.04323361185617763	0.04268	.	.	0.259808212519	0.04868	T	0.028284	0.20524	T	-0.29482	0.09157	T	-0.661265	0.08180	T	0.0260858363473376	0.01417	T	0.40156	0.10241	T	0.10558327	0.24963	0.10160429	0.24329	0.10558327	0.24963	0.10160429	0.24329	-6.387	0.49408	T	.	.	0.163	0.36053	B	.	.	0.777234	0.11474	8.076	0.62904335362991759	0.07083	0.02780	0.07486	N	AEFBI	0.039599	0.05774	N	-0.779306879523823	0.13850	0.6853526	-1.02305830469118	0.09279	0.460741	2.08373560863147E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.93	-1.95	0.07135	-0.009000	0.12703	.	.	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2337:0.3704:0.2307:0.1652	0.807	0.01016	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07692	2464.2	642	chr1	152308209	.	C	A	2464.2	.	AC=2;AF=0.077;AN=26;BaseQRankSum=3.21;DP=7060;ExcessHet=0.119;FS=11.692;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.115;MQ=58.81;MQRankSum=-10.53;QD=1.9;ReadPosRankSum=-4.978;SOR=1.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:568,60:628:99:0|1:152308209_C_A:810,0,23670:152308209	11	0	2	6
chr1	152308212	152308212	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6674C:p.V2225A	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	1245031	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	.	0.183307	0.0849	0.0676	0.1618	0.2071	0.0519	0.0475	0.0976	0.1499	0.0354234	922	26028	rs116918835	0.0009	0.0054	0.0009	0.0009	0.0197	0.0008	0.0008	0.0181	0.0175	0.0197	0.0013	0.0008	0.0076	0.0002	0.0014	0.0001	0.0026	0.0020	0.0022	0.0037	0.0020	0.0024	0.0108	0.0019	0.0018	0.0095	0.0090	0.0108	0	0.0006	0	0.0014	0.0004	0	7.611e-05	0.0008	0.0013	1.0	0.00964	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.18	0.09070	N	3.97	0.03326	T	0.73	0.02068	N	0.021	0.00339	-0.9292	0.44256	T	0.002	0.00526	T	8	0.0012171268	0.00013	T	.	.	.	0.037	0.09474	.	.	.	.	0.028666542745717876	0.02816	.	.	0.285316556692	0.08245	T	0.009382	0.08542	T	-0.378214	0.03197	T	-0.781055	0.02422	T	0.000276302609008336	0.00002	T	0.166283	0.01543	T	0.032984942	0.03429	0.09148293	0.21510	0.032984942	0.03429	0.09148293	0.21510	-4.226	0.27126	T	.	.	0.061	0.01075	B	.	.	-0.504175	0.01853	0.149	0.39177539384107868	0.02688	0.00100	0.00648	N	AEFBI	0.016280	0.00357	N	-1.58518500512031	0.01340	0.05839091	-1.65704622896125	0.01340	0.06047888	1.29783415351714E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.693	-0.944	0.09862	-1.778000	0.01875	.	.	-2.058000	0.00414	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.008621	0.009146	0.003788	0.07692	3121.2	646	chr1	152308212	.	A	G	3121.2	.	AC=2;AF=0.077;AN=26;BaseQRankSum=5.3;DP=7103;ExcessHet=0.119;FS=13.578;InbreedingCoeff=-0.1515;MLEAC=3;MLEAF=0.115;MQ=58.82;MQRankSum=-9.511;QD=2.38;ReadPosRankSum=-4.198;SOR=1.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:569,64:633:99:0|1:152308209_C_A:975,0,23700:152308209	11	0	2	6
chr1	152308234	152308234	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6652A:p.D2218N	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1203632	not_provided|Ichthyosis_vulgaris	MedGen:C3661900|MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.114	.	.	.	0.0011	0.0123	0.0007	0	0	0.0001	0	0	0.0005763	15	26028	rs143707744	0.0004	0.0007	0.0005	0.0004	0.0068	0.0004	0.0004	0.0060	0.0057	0.0068	0.0007	3.827e-05	0	0	0	0.0003	0.0005	0.0002	0.0005	0.0013	0.0005	0.0006	0.0014	0.0004	0.0004	0.0011	0.0010	0.0014	0	0.0004	0	0	0	0	0.0003	0.0005	0.0004	0.553	0.06523	T	.	.	.	0.972	0.57405	D	0.311	0.41430	B	.	.	.	.	1	0.08975	N	2.665	0.77964	M	3.62	0.04399	T	-1.17	0.29933	N	0.122	0.11340	-0.9444	0.41911	T	0.005	0.01797	T	9	0.007345259	0.00167	T	.	.	.	0.114	0.32008	.	.	0.183819452728	0.17975	0.024094848495623277	0.02360	.	.	0.292563855648	0.09296	T	0.026353	0.19521	T	-0.400429	0.02301	T	-0.812965	0.01599	T	0.0250244774119663	0.01276	T	0.440256	0.12156	T	0.062953785	0.13206	0.051176984	0.08182	0.062953785	0.13205	0.051176984	0.08182	-7.83	0.59906	D	.	.	0.140	0.30713	B	.	.	0.808493	0.11794	8.366	0.51359651342975077	0.04548	0.00135	0.00831	N	AEFBI	0.027289	0.02204	N	-0.904809128824889	0.10728	0.5141272	-1.19281349150263	0.06029	0.2889998	1.58794692353994E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.04	-1.32	0.08721	-0.178000	0.09775	.	.	-0.719000	0.03822	0.000000	0.06391	0.142000	0.23101	0.001000	0.02609	0.0:0.4242:0.3383:0.2375	2.725	0.04890	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.010870	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2511.33	669	chr1	152308234	.	C	T	2511.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.69;DP=7162;ExcessHet=0;FS=2.489;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.09;MQRankSum=-15.14;QD=3.67;ReadPosRankSum=-2.004;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:571,114:685:99:0|1:152308209_C_A:2525,0,22785:152308209	18	0	1	0
chr1	152308813	152308813	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6073A:p.G2025R	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1175751	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	.	0.0061901	0.0032	0.0349	0.0014	0.0002	0	8.99e-05	0.0022	0.0001	0.001191	31	26028	rs144517370	0.0006	0.0011	0.0007	0.0006	0.0213	0.0006	0.0006	0.0200	0.0195	0.0213	0.0008	0	0.0002	0	0.0003	7.105e-05	0.0015	0.0002	0.0085	0.0100	0.0091	0.0079	0.0298	0.0081	0.0080	0.0284	0.0278	0.0298	0	0.0030	0	0	0	0	0.0001	0.0052	0.0006	0.078	0.33923	T	.	.	.	0.013	0.16609	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.16	0.29674	L	3.73	0.03982	T	-3.34	0.66325	D	0.226	0.25377	-0.9155	0.46155	T	0.004	0.01159	T	9	0.0039421916	0.00076	T	.	.	.	0.014	0.01968	0.483	0.56462	0.152612264143	0.14878	0.003590976259755642	0.00336	.	.	0.308184325695	0.11633	T	0.119519	0.44110	T	-0.682885	0.00046	T	-0.737437	0.03999	T	0.0119750717029964	0.00188	T	0.488051	0.14953	T	0.1530063	0.34705	0.16117233	0.37502	0.1530063	0.34704	0.16117233	0.37502	-5.74	0.44048	T	.	.	0.117	0.23848	B	.	.	0.151637	0.05437	1.909	0.37856475819613311	0.02519	0.01773	0.05562	N	AEFBI	0.045415	0.07423	N	-1.23431349634472	0.04511	0.2037162	-1.30979691060981	0.04303	0.2026631	1.575500161069E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.73	-1.53	0.08156	-0.409000	0.07223	.	.	-0.616000	0.04572	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3314:0.3754:0.2933	3.892	0.08627	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000529	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	9539.33	1305	chr1	152308813	.	C	T	9539.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.34;DP=13057;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.48;MQRankSum=-24.92;QD=9.42;ReadPosRankSum=0.217;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:732,281:1013:99:0|1:152308813_C_T:9553,0,29670:152308813	18	0	1	0
chr1	152312125	152312125	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2761A:p.D921N	Ichthyosis vulgaris, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	1036951	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00143321403794	.	.	2.471e-05	0.0003	0	0	0	0	0	0	3.84e-05	1	26028	rs781592684	1.643e-05	0.0002	1.362e-05	1.926e-05	3.035e-05	1.111e-05	9.34e-06	1.175e-05	9.55e-06	3.035e-05	2.238e-05	0	0	0	0	1.799e-05	3.317e-05	0	0.0006	0.0049	0.0006	0.0007	0.0024	0.0005	0.0005	0.0020	0.0018	0.0024	0	0	0	0	0	0	2.941e-05	0	0	0.052	0.39097	T	.	.	.	0.059	0.23051	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.595	0.75868	M	3.14	0.07920	T	-0.46	0.14978	N	0.096	0.07673	-0.9238	0.45027	T	0.007	0.02558	T	9	0.040710777	0.02663	T	0.001433	0.02139	T	0.031	0.07369	.	.	0.112648838833	0.10856	0.01445387120717136	0.01402	.	.	0.307614505291	0.11547	T	0.009953	0.09029	T	-0.525268	0.00410	T	-0.81076	0.01648	T	0.0410788069309633	0.03887	T	0.383762	0.09387	T	0.03505712	0.04053	0.03836668	0.03691	0.03505712	0.04053	0.03836668	0.03690	-7.543	0.57912	D	.	.	0.165	0.36436	B	.	.	0.418013	0.07885	4.589	0.54741251432343763	0.05198	0.00647	0.02821	N	AEFBI	0.039502	0.05748	N	-1.19613799679971	0.05059	0.2297165	-1.34843414179111	0.03824	0.1791788	1.25260497986401E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.6	-0.702	0.10698	-0.345000	0.07819	.	.	-0.689000	0.04143	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.5378:0.2733:0.1889	3.259	0.06439	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1623.33	476	chr1	152312125	.	C	T	1623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.88;DP=6565;ExcessHet=0;FS=18.446;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.94;MQRankSum=-25.01;QD=2.43;ReadPosRankSum=-1.017;SOR=1.913	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:586,81:667:99:0|1:152312100_C_A:1637,0,24363:152312100	18	0	1	0
chr1	152805162	152805162	C	T	exonic	LCE1C	.	nonsynonymous SNV	LCE1C:NM_178351:exon2:c.G317A:p.C106Y,LCE1C:NM_001276331:exon3:c.G227A:p.C76Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	706702	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0077	0.0061901	0.0022	0.0255	0.0014	0	0	3.094e-05	0	0.0001	0.0020116	311	154602	rs115724302	0.0007	0.0007	0.0008	0.0006	0.0246	0.0007	0.0007	0.0232	0.0227	0.0246	0.0013	0	0	0	0.0005	3.6e-06	0.0020	0.0002	0.0071	0.0071	0.0077	0.0064	0.0248	0.0067	0.0066	0.0236	0.0231	0.0248	0	0.0024	0	0	0	0	0	0.0052	0	.	.	.	0.001	0.83351	D	0.991	0.64070	D	0.991	0.79672	D	0.001880	0.37789	N	0.000000	0.994016	0.23604	N	2.095	0.58118	M	.	.	.	.	.	.	0.545	0.57177	-1.1314	0.01716	T	0.023	0.09787	T	10	0.005890101	0.00132	T	.	.	.	.	.	.	.	0.220303561663	0.21668	0.04028683081758108	0.03974	.	.	.	.	.	0.043552	0.26538	T	-0.454581	0.01061	T	-0.406826	0.32592	T	0.0420404267433696	0.04063	T	0.435556	0.11926	T	0.727241	0.79568	0.5787187	0.75586	0.727241	0.79569	0.5787187	0.75586	-10.372	0.76109	D	.	.	0.361	0.57274	A	.	.	2.522431	0.32594	19.09	0.57249602390662235	0.05728	0.88815	0.48927	D	AEFBI	0.116665	0.22888	N	0.379536701260236	0.60315	4.219036	0.218351828687196	0.50864	3.274237	3.74282006560157E-4	0.06745	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.92	2.92	0.32998	3.471000	0.52871	.	.	0.510000	0.23265	0.718000	0.28801	1.000000	0.68203	0.314000	0.24830	0.0:1.0:0.0:0.0	9.535	0.38381	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002024	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1155.33	62	chr1	152805162	.	C	T	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.068;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.275;SOR=0.682	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1169,0,1229	18	0	1	0
chr1	154191927	154191927	T	G	exonic	TPM3	.	nonsynonymous SNV	TPM3:NM_001364679:exon1:c.A92C:p.K31T,TPM3:NM_001364680:exon1:c.A92C:p.K31T,TPM3:NM_001364681:exon1:c.A92C:p.K31T,TPM3:NM_001364682:exon1:c.A92C:p.K31T,TPM3:NM_152263:exon1:c.A92C:p.K31T	CAP myopathy 1, Autosomal recessive, Autosomal dominant;Myopathy, congenital, with fiber-type disproportion, Autosomal recessive, Autosomal dominant;Nemaline myopathy 1, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	206725	not_provided|Congenital_myopathy_4B,_autosomal_recessive|TPM3-related_disorder|Congenital_myopathy_with_fiber_type_disproportion|not_specified	MedGen:C3661900|MONDO:MONDO:0012239,MedGen:C5829889,OMIM:609284,Orphanet:171433,Orphanet:171439,Orphanet:171881|.|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.795	.	0.0065	0.00519169	0.0015	0.0177	0.0003	0	0	0	0.0011	6.057e-05	0.0014489	224	154602	rs62000429	0.0006	0.0006	0.0006	0.0005	0.0201	0.0005	0.0005	0.0188	0.0183	0.0201	0.0007	0	0	0	0.0005	1.259e-05	0.0013	9.275e-05	0.0055	0.0055	0.0055	0.0054	0.0194	0.0052	0.0050	0.0183	0.0178	0.0194	0	0.0011	0	0	0	0	5.879e-05	0.0033	0	0.001	0.78490	D	0.013	0.63109	D	.	.	.	.	.	.	0.000001	0.84330	D	0.092703	0.992419	0.41639	D	3.52	0.92970	H	-2.4	0.88455	D	-2.62	0.82764	D	0.684	0.69037	0.739	0.93658	D	0.772	0.92234	D	10	0.008729011	0.00198	T	.	.	.	0.795	0.93266	.	.	0.952218128417	0.95171	.	.	2.4746773431	0.97514	0.74879026413	0.74268	T	0.88714	0.97678	D	-0.165932	0.25852	T	0.00513007	0.70668	D	0.0479805929192926	0.05141	T	0.985101	0.94867	D	0.50679964	0.67493	0.43033475	0.66687	0.51624787	0.68045	0.3614932	0.61572	-10.119	0.74621	D	.	.	0.524	0.71160	A	.;.;.	.;.;.	4.498725	0.70345	25.5	0.9979175231534908	0.87750	0.97845	0.77560	D	AEFBI	0.950803	0.96479	D	0.731207954837615	0.81679	7.578889	0.738077953828445	0.85266	8.528916	0.999999999999277	0.74766	0.660377	0.49826	0	0.627178	0.54094	0	0.696353	0.63694	0	0.505526	0.08623	0	.	.	5.75	5.75	0.90390	8.017000	0.88732	7.916000	0.74276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.901	0.70324	76	0.96806	.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1693.33	39	chr1	154191927	.	T	G	1693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.23;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.574;SOR=0.666	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1707,0,1840	18	0	1	0
chr1	156055312	156055312	A	T	exonic	LAMTOR2	.	nonsynonymous SNV	LAMTOR2:NM_001145264:exon2:c.A118T:p.T40S,LAMTOR2:NM_014017:exon2:c.A118T:p.T40S	Immunodeficiency due to defect in MAPBP-interacting protein, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0126249190542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.11807	T	0.795	0.05327	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	0.999966	0.52935	D	-0.695	0.01866	N	1.93	0.22881	T	0.29	0.04947	N	0.563	0.58713	-0.9785	0.35345	T	0.008	0.02926	T	10	0.16658434	0.31103	T	0.012625	0.31353	T	0.148	0.39182	0.314	0.28935	0.17258766438	0.16869	0.7794308833570521	0.77894	0.976565210549	0.73585	0.857110321522	0.90683	D	0.041985	0.26036	T	-0.111587	0.34506	T	-0.398063	0.33611	T	0.868882775306702	0.51884	D	0.893711	0.64723	D	0.34241402	0.56471	0.24657036	0.50169	0.34241402	0.56471	0.24657036	0.50168	-5.415	0.41690	T	.	.	0.147	0.47546	B	.;.;.	.;.;.	3.558383	0.50059	22.9	0.94942809984755194	0.25841	0.91843	0.54383	D	AEFDGBCI	0.959612	0.98002	D	-0.345524524041946	0.27437	1.505324	-0.0725914242208984	0.36527	2.126947	0.9999999999408	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.7	4.57	0.55860	8.691000	0.91006	9.251000	0.79490	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.9245:0.0:0.0755:0.0	10.730	0.45292	318	0.87072	Roadblock/LAMTOR2 domain|Roadblock/LAMTOR2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1901.33	34	chr1	156055312	.	A	T	1901.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=820;ExcessHet=0;FS=2.079;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.83;SOR=0.915	GT:AD:DP:GQ:PL	0/1:80,72:152:99:1915,0,2011	18	0	1	0
chr1	156873722	156873722	C	T	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001012331:exon8:c.C940T:p.R314C,NTRK1:NM_002529:exon8:c.C940T:p.R314C,NTRK1:NM_001007792:exon9:c.C850T:p.R284C	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	244247	not_provided|Hereditary_insensitivity_to_pain_with_anhidrosis|Hereditary_cancer	MedGen:C3661900|MONDO:MONDO:0009746,MedGen:C0020074,OMIM:256800,Orphanet:642|MedGen:C1333600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	0.0157940842566	0.0018	0.00239617	0.0005	0.0047	9.381e-05	0	0	3.326e-05	0	0.0005	0.000414	64	154602	rs137994522	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	0.0001	0.0033	0.0031	0.0039	6.724e-05	0	0	0	0.0002	7.197e-06	0.0003	0.0003	0.0012	0.0012	0.0012	0.0011	0.0041	0.0010	0.0010	0.0036	0.0034	0.0041	0	0.0003	0	0	0	0.0034	4.411e-05	0	0.0004	0.014	0.53900	D	0.043	0.49942	D	0.997	0.70673	D	0.58	0.50189	P	0.242726	0.15677	N	0.610361	0.99582	0.43918	D	2.095	0.58118	M	1.47	0.31987	T	-3.45	0.67589	D	0.605	0.62273	-1.0551	0.13013	T	0.101	0.37443	T	10	0.013421059	0.00285	T	0.015794	0.36715	T	0.191	0.46948	.	.	0.593372671839	0.59015	0.8939050585774362	0.89361	0.90969639693	0.71008	0.452191740274	0.32243	T	0.732	0.92507	D	-0.42863	0.01511	T	-0.388345	0.34746	T	0.0625975694927707	0.07571	T	0.951205	0.84269	D	0.2424861	0.47176	0.14187753	0.33771	0.18946278	0.40489	0.21467185	0.46025	-8.942	0.69776	D	0.2257435838038201	0.30503	0.180	0.39151	B	.;.;.;.	.;.;.;.	4.683446	0.74978	26.2	0.99912984844801345	0.98167	0.29519	0.23843	N	AEFDBI	0.061284	0.11706	N	0.386476586388501	0.60690	4.260565	0.37195473179357	0.59842	4.165547	0.99652856976121	0.34806	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.631631	0.49550	0	.	.	6.17	5.19	0.71428	1.377000	0.33923	4.887000	0.45725	0.599000	0.40250	0.009000	0.18154	1.000000	0.68203	0.910000	0.44547	0.1347:0.8653:0.0:0.0	17.133	0.86610	579	0.69780	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001531	0.010638	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.02632	1987.33	33	chr1	156873722	.	C	T	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.552;DP=780;ExcessHet=0;FS=6.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=2.04;SOR=1.223	GT:AD:DP:GQ:PL	0/1:58,79:137:99:2001,0,1418	18	0	1	0
chr1	157542901	157542901	G	A	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon6:c.C1081T:p.L361F,FCRL5:NM_031281:exon6:c.C1081T:p.L361F	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0063	0.00599042	0.0020	0.0201	0.0013	0	0	0.0002	0.0011	0	0.0018887	292	154602	rs115306426	0.0007	0.0007	0.0008	0.0007	0.0218	0.0007	0.0007	0.0205	0.0200	0.0218	0.0010	0	0	0	0.0022	0.0001	0.0016	4.639e-05	0.0057	0.0057	0.0059	0.0055	0.0198	0.0054	0.0053	0.0187	0.0183	0.0198	0	0.0017	0	0	0	0	0.0001	0.0033	0.0002	0.357	0.12032	T	0.678	0.06147	T	0.986	0.61523	D	0.857	0.61067	P	.	.	.	.	1	0.08975	N	0.12	0.08593	N	2.69	0.12268	T	-0.6	0.24026	N	0.037	0.01825	-1.0497	0.14481	T	0.013	0.05033	T	9	0.003721863	0.00069	T	.	.	.	0.077	0.22490	.	.	0.0920862733494	0.08535	0.13742606916865616	0.13666	0.189962663849	0.21315	0.209943383932	0.00809	T	0.002687	0.02075	T	-0.737355	0.00021	T	-0.815679	0.01542	T	0.00815976016068257	0.00097	T	0.343166	0.07474	T	0.04029657	0.05725	0.05133183	0.08240	0.04029657	0.05725	0.05133183	0.08239	-4.15	0.26024	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	0.315224	0.06903	3.439	0.18004824544295156	0.00548	0.00757	0.03139	N	AEFDBIJ	0.036168	0.04774	N	-1.37128749203953	0.02911	0.1292262	-1.53324939402326	0.02093	0.09576224	0.451523470226899	0.20545	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	3.05	-4.64	0.03109	-0.774000	0.04790	-8.312000	0.00991	-1.217000	0.01344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.3557:0.1506:0.2242:0.2695	0.220	0.00155	851	0.35303	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4648.83	33	chr1	157542901	.	G	A	4648.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.92;DP=915;ExcessHet=0.119;FS=8.408;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.01;SOR=0.918	GT:AD:DP:GQ:PL	0/1:77,85:162:99:2501,0,2099	17	0	2	0
chr1	158398531	158398531	C	G	exonic	OR10T2	.	nonsynonymous SNV	OR10T2:NM_001004475:exon1:c.G936C:p.K312N	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	.	0.0041	0.00638978	0.0020	0.0208	0.0013	0	0	4.667e-05	0	0	0.0014101	218	154602	rs6692949	0.0005	0.0005	0.0006	0.0004	0.0179	0.0005	0.0005	0.0167	0.0162	0.0179	0.0010	0	0	0	0.0007	1.462e-05	0.0015	6.069e-05	0.0051	0.0051	0.0051	0.0051	0.0178	0.0048	0.0047	0.0167	0.0163	0.0178	0	0.0018	0	0	0	0	0	0.0057	0.0002	0.004	0.65419	D	0.02	0.58613	D	0.799	0.44910	P	0.242	0.38699	B	0.000520	0.43753	D	0.000000	1	0.08975	N	0.345	0.11182	N	8.17	0.00282	T	-0.94	0.25118	N	0.217	0.24260	-1.1547	0.00891	T	0.000	0.00039	T	10	0.003470838	0.00061	T	.	.	.	0.130	0.35528	0.123	0.02942	0.233785782151	0.22967	0.032662098226971054	0.03214	0.0102049513677	0.00941	0.341854155064	0.16715	T	0.005404	0.04851	T	-0.713353	0.00030	T	-0.783178	0.02359	T	0.0426134838903415	0.04167	T	0.318368	0.06377	T	0.10876685	0.25717	0.07176249	0.15404	0.10876685	0.25716	0.07176249	0.15404	-5.054	0.37420	T	.	.	0.171	0.37520	B	.	.	1.729355	0.22013	15.44	0.99518236601575383	0.69100	0.07197	0.13222	N	AEFBI	0.053790	0.09723	N	-0.619179963584428	0.18368	0.9530939	-0.689910620139836	0.17212	0.9142099	0.936947887450871	0.27276	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.45	1.5	0.22029	-0.382000	0.07466	0.065000	0.14184	0.597000	0.34315	0.000000	0.06391	0.020000	0.20764	0.161000	0.20682	0.0:0.7169:0.0:0.2831	7.620	0.27349	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.010101	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1781.33	35	chr1	158398531	.	C	G	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.926;DP=1408;ExcessHet=0;FS=3.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.162;SOR=1.052	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1795,0,1740	18	0	1	0
chr1	158480064	158480064	G	A	exonic	OR10R2	.	nonsynonymous SNV	OR10R2:NM_001004472:exon1:c.G187A:p.V63I	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0082	0.00898562	0.0025	0.0271	0.0014	0	0	8.992e-05	0.0011	6.058e-05	0.0024709	382	154602	rs62642484	0.0009	0.0009	0.0010	0.0007	0.0291	0.0008	0.0008	0.0276	0.0269	0.0291	0.0023	0	0	0	0.0014	5.396e-05	0.0020	4.637e-05	0.0077	0.0077	0.0078	0.0076	0.0263	0.0074	0.0072	0.0251	0.0245	0.0263	0	0.0036	0	0	0	0	0.0001	0.0085	0	0.513	0.07425	T	0.851	0.03497	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.15	0.08895	N	7.42	0.00404	T	-0.1	0.08495	N	0.028	0.00618	-1.0280	0.21103	T	0.000	0.00039	T	9	0.003356874	0.00058	T	.	.	.	0.023	0.04649	.	.	0.280181792013	0.27631	0.09010993774858955	0.08943	0.0110152575662	0.01025	0.195253193378	0.00332	T	0.001719	0.01148	T	-0.780276	0.00011	T	-0.871959	0.00724	T	0.0067342186007204	0.00076	T	0.153985	0.01332	T	0.023856623	0.01161	0.026932841	0.00811	0.023856623	0.01161	0.026932841	0.00811	-3.909	0.22438	T	.	.	0.083	0.09045	B	.;.;.	.;.;.	0.105438	0.05059	1.602	0.54417183038817918	0.05134	0.01685	0.05375	N	AEFDI	0.034640	0.04326	N	-1.4686849241287	0.02074	0.0912144	-1.39177200179933	0.03339	0.1555489	0.00932488847636858	0.11835	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.28	-1.41	0.08473	-5.012000	0.00188	-9.086000	0.00869	-0.735000	0.03699	0.000000	0.06391	0.000000	0.08366	0.830000	0.39126	0.3636:0.1327:0.2324:0.2713	0.406	0.00404	672	0.60758	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	0.003021	0.005051	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2496.33	33	chr1	158480064	.	G	A	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=1084;ExcessHet=0;FS=8.267;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.644;SOR=0.329	GT:AD:DP:GQ:PL	0/1:73,84:157:99:2510,0,1843	18	0	1	0
chr1	158973749	158973749	C	T	exonic	PYHIN1	.	nonsynonymous SNV	PYHIN1:NM_152501:exon8:c.C1462T:p.H488Y,PYHIN1:NM_198928:exon8:c.C1435T:p.H479Y	.	432	1068	22	0	0	22	0.0101946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0064	0.00459265	0.0026	0.0194	0.0025	0	0	0.0008	0.0066	0.0011	0.0023286	360	154602	rs112218133	0.0011	0.0011	0.0011	0.0010	0.0330	0.0010	0.0010	0.0292	0.0277	0.0196	0.0025	0.0036	0	0	0.0330	0.0002	0.0034	0.0010	0.0060	0.0060	0.0061	0.0059	0.0188	0.0057	0.0055	0.0177	0.0173	0.0188	0	0.0027	0.0055	0.0002	0	0.0374	0.0004	0.0104	0.0015	0.0	0.91255	D	0.0	0.92824	D	0.985	0.64070	D	0.336	0.48765	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.43	0.05574	T	-0.1	0.08495	N	0.235	0.27077	-0.9274	0.44516	T	0.005	0.01542	T	9	0.0050058663	0.00108	T	.	.	.	0.064	0.18567	.	.	0.183819452728	0.17975	0.12272956610527576	0.12198	0.129374146952	0.14584	0.351850420237	0.18194	T	2.18E-4	0.00041	T	-0.641892	0.00081	T	-0.679873	0.06991	T	0.012053524399577	0.00191	T	0.454355	0.12956	T	0.13472876	0.31292	0.18615036	0.41770	0.13472876	0.31292	0.18615036	0.41769	-4.942	0.36797	T	.	.	0.074	0.08609	B	.;.	.;.	-0.089984	0.03702	0.754	0.95913469827504583	0.28167	0.00687	0.02939	N	AEFBI	0.035183	0.04484	N	-0.721463761998977	0.15420	0.7769134	-0.913568486575652	0.11773	0.6018527	5.6976317477569E-4	0.07335	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.82	-0.484	0.11469	-0.768000	0.04820	-5.327000	0.01760	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.5345:0.4655:0.0:0.0	6.066	0.19087	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	0.032729	0.010101	0.039402	0.102339	0.050000	0.025862	0.003049	0.000000	0.02632	1480.33	39	chr1	158973749	.	C	T	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.727;DP=862;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.861;SOR=0.717	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1494,0,1822	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:135,55:194:99:303,0,2866	7	0	12	0
chr1	168714228	168714228	A	C	exonic	DPT	.	nonsynonymous SNV	DPT:NM_001937:exon2:c.T424G:p.S142A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0049954336571	.	.	8.244e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs778151815	3.694e-05	3.694e-05	1.361e-05	6.05e-05	0.0006	2.894e-05	2.592e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0006	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.185	0.21550	T	0.187	0.28764	T	0.001	0.07471	B	0.004	0.10090	B	0.000064	0.52346	D	0.173530	0.994295	0.42229	D	1.59	0.40313	L	0.91	0.44856	T	-1.45	0.35597	N	0.443	0.48134	-1.0823	0.06908	T	0.036	0.15465	T	9	0.24444771	0.41676	T	0.004995	0.12598	T	0.036	0.09122	0.44	0.49484	0.682360461295	0.67965	0.27343071970207855	0.27256	0.0803138605224	0.09039	0.541609287262	0.44673	T	0.230196	0.59621	T	-0.425601	0.01576	T	-0.492746	0.23103	T	0.123440427701791	0.14763	T	0.589341	0.21633	T	0.109525524	0.25893	0.095379844	0.22620	0.109525524	0.25893	0.095379844	0.22619	-4.66	0.32917	T	0.2633378756775925	0.35528	0.077	0.06295	B	.	.	2.891946	0.38301	20.7	0.9897392516530753	0.49600	0.93663	0.58837	D	AEDGBI	0.642233	0.61929	D	-0.104470293732353	0.37196	2.160708	0.103008134829643	0.44701	2.746892	0.952571677917377	0.28024	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.81	4.62	0.56946	4.326000	0.59028	5.173000	0.47836	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.7248:0.2752:0.0:0.0	10.918	0.46361	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1670.33	34	chr1	168714228	.	A	C	1670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.021;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.751;SOR=0.713	GT:AD:DP:GQ:PL	0/1:110,75:185:99:1684,0,2894	18	0	1	0
chr1	171541583	171541583	C	T	exonic	PRRC2C	.	nonsynonymous SNV	PRRC2C:NM_015172:exon16:c.C4111T:p.R1371W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0244387267959	7.7e-05	.	1.679e-05	0	0	0	0	3.055e-05	0	0	1.94e-05	3	154602	rs141613899	1.163e-05	1.163e-05	8.169e-06	1.513e-05	8.946e-05	7.09e-06	5.79e-06	2.985e-05	1.804e-05	0	8.946e-05	0	0	0	0	1.079e-05	1.656e-05	0	1.315e-05	1.313e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.984	0.76113	D	0.000760	0.42006	D	0.000000	0.996249	0.43096	D	1.1	0.28011	L	4.27	0.02513	T	-3.75	0.71157	D	0.661	0.67045	-1.0637	0.10855	T	0.016	0.06425	T	10	0.45769507	0.59092	T	0.024439	0.47428	T	0.160	0.41473	.	.	0.209943299407	0.20609	0.15128303488701542	0.15050	0.194683967282	0.21811	0.744996726513	0.73709	T	0.054654	0.29785	T	-0.0213138	0.48666	T	-0.185527	0.56008	T	0.551966311228068	0.34551	D	0.967803	0.88325	D	.	.	.	.	.	.	.	.	-14.067	0.93272	D	.	.	.	.	.	.;.;.	.;.;.	3.567249	0.50221	22.9	0.97367173796504369	0.33602	0.81640	0.41003	D	AEFGBCI	0.653237	0.62634	D	0.451264685578775	0.64273	4.678365	0.39381993575589	0.61184	4.314928	0.630774791804258	0.21966	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	3.42	0.38259	1.658000	0.36992	1.773000	0.28651	0.588000	0.31329	0.862000	0.30648	0.917000	0.28245	0.965000	0.52897	0.541:0.459:0.0:0.0	12.150	0.53350	368	0.84463	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1886.33	60	chr1	171541583	.	C	T	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=1324;ExcessHet=0;FS=0.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.63;ReadPosRankSum=-0.432;SOR=0.595	GT:AD:DP:GQ:PL	0/1:40,67:107:99:1900,0,895	18	0	1	0
chr1	175128633	175128633	G	A	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon15:c.G3217A:p.V1073I	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0147679843309	0.0016	.	0.0012	0	0.0004	0	0.0023	0.0019	0.0011	0	0.0011061	171	154602	rs150465850	0.0010	0.0010	0.0010	0.0011	0.0121	0.0010	0.0010	0.0099	0.0090	0.0004	0.0005	7.658e-05	0	0.0027	0.0121	0.0010	0.0013	6.963e-05	0.0015	0.0015	0.0016	0.0014	0.0025	0.0013	0.0013	0.0022	0.0021	4.814e-05	0	0.0005	0	0	0.0032	0.0204	0.0025	0.0043	0	0.456	0.08839	T	0.618	0.08961	T	0.003	0.11197	B	0.013	0.16460	B	0.000169	0.48594	D	0.180299	0.882048	0.28032	N	-0.185	0.04235	N	-1.35	0.80035	T	-0.51	0.15986	N	0.14	0.24135	-0.8785	0.49880	T	0.216	0.57758	T	10	0.012817264	0.00274	T	0.014768	0.35101	T	0.237	0.54074	.	.	0.856882856639	0.85549	0.12327195206864762	0.12253	0.0795081424943	0.08942	0.407216966152	0.26071	T	0.001226	0.00717	T	-0.500508	0.00568	T	-0.491455	0.23239	T	0.0408824924558636	0.03851	T	0.751925	0.37414	T	0.05371081	0.10204	0.04731296	0.06787	0.05371081	0.10204	0.04731296	0.06786	-4.303	0.28219	T	.	.	0.072	0.09094	B	.;.;.	.;.;.	2.053957	0.26112	17.00	0.89379125846162799	0.18746	0.71448	0.35017	D	AEFBI	0.178130	0.30539	N	-0.344478608060107	0.27475	1.50773	-0.108474945574158	0.35048	2.023066	0.999936263981071	0.46732	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.11	5.11	0.69188	1.419000	0.34400	6.618000	0.56110	-0.107000	0.15377	0.810000	0.29852	1.000000	0.68203	0.952000	0.50033	0.095:0.0:0.905:0.0	9.732	0.39532	669	0.61081	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.010101	0.020380	0.020468	0.000000	0.025862	0.003049	0.000000	0.02632	2548.33	38	chr1	175128633	.	G	A	2548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.341;DP=883;ExcessHet=0;FS=4.298;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-1.018;SOR=0.653	GT:AD:DP:GQ:PL	0/1:79,101:180:99:2562,0,1927	18	0	1	0
chr1	176740132	176740132	A	G	exonic	PAPPA2	.	nonsynonymous SNV	PAPPA2:NM_020318:exon14:c.A4087G:p.I1363V	.	0	225	1	0	0	1	0.00221729	.	.	.	2377572	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00325546052337	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774781008	3.147e-05	3.147e-05	3.131e-05	3.163e-05	0.0005	2.413e-05	2.158e-05	0.0001	7.546e-05	0	0	0	0	0	0.0005	3.328e-05	8.281e-05	1.159e-05	6.578e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.447	0.09075	T	0.451	0.12920	T	0.008	0.14655	B	0.007	0.12992	B	0.309373	0.14460	N	0.720722	1	0.08975	N	2.56	0.74772	M	4.81	0.01516	T	-0.51	0.15986	N	0.038	0.01203	-0.9321	0.43829	T	0.005	0.01833	T	10	0.063767046	0.08357	T	0.003255	0.07177	T	0.018	0.03083	0.257	0.19845	0.223146558224	0.21909	0.23964132459394108	0.23878	0.1419555979	0.16002	0.230153217912	0.01979	T	0.100639	0.40663	T	-0.40356	0.02194	T	-0.801976	0.01853	T	0.0636534243822098	0.07730	T	0.189081	0.01998	T	0.028946277	0.02311	0.02458898	0.00481	0.028946277	0.02311	0.02458898	0.00481	-2.459	0.05507	T	.	.	0.078	0.06990	B	.	.	-0.429720	0.02104	0.198	0.29079189425332436	0.01525	0.16816	0.19562	N	AEFI	0.084992	0.17228	N	-1.30039324251119	0.03671	0.1644246	-1.3354621797379	0.03980	0.1867912	1.30318661568765E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	-1.04	0.09555	0.753000	0.26042	0.443000	0.18445	-2.752000	0.00197	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.4653:0.263:0.1449:0.1268	1.644	0.02591	726	0.54788	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2238.33	38	chr1	176740132	.	A	G	2238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.086;DP=855;ExcessHet=0;FS=6.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.022;SOR=0.376	GT:AD:DP:GQ:PL	0/1:117,96:213:99:2252,0,3055	18	0	1	0
chr1	177939725	177939725	G	A	exonic	CRYZL2P-SEC16B;SEC16B	.	nonsynonymous SNV	SEC16B:NM_001356500:exon17:c.C1157T:p.S386L,SEC16B:NM_033127:exon18:c.C2180T:p.S727L,CRYZL2P-SEC16B:NM_001356506:exon24:c.C2180T:p.S727L,CRYZL2P-SEC16B:NM_001356505:exon26:c.C2180T:p.S727L	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0008	0.00359425	0.0007	0.0061	0.0008	0	0	0.0001	0	0	0.0004592	71	154602	rs12074076	0.0003	0.0003	0.0003	0.0002	0.0065	0.0002	0.0002	0.0058	0.0055	0.0065	0.0006	0	0	0	0.0021	5.532e-05	0.0007	0.0001	0.0016	0.0016	0.0015	0.0016	0.0049	0.0014	0.0013	0.0044	0.0041	0.0049	0	0.0014	0	0	0	0	7.351e-05	0.0033	0.0002	0.173	0.22573	T	0.497	0.11299	T	0.003	0.11197	B	0.001	0.04355	B	0.153702	0.02983	N	1.657110	1	0.08975	N	1.295	0.32453	L	2.4	0.15608	T	-1.29	0.32387	N	0.063	0.03502	-1.0258	0.21821	T	0.009	0.03271	T	10	0.0039038062	0.00074	T	.	.	.	0.047	0.12962	.	.	0.167679373172	0.16340	0.14825459161405144	0.14747	0.0361349943124	0.03815	0.272900462151	0.06523	T	0.007829	0.07211	T	-0.740504	0.00020	T	-0.836055	0.01160	T	0.00180212191713534	0.00018	T	0.488951	0.15001	T	0.03250671	0.03290	0.044676922	0.05841	0.03250671	0.03290	0.044676922	0.05841	-4.376	0.29230	T	.	.	0.065	0.01859	B	.	.	0.221157	0.06035	2.477	0.71654630811542386	0.09703	0.01237	0.04368	N	AEFBI	0.136291	0.25691	N	-1.16447069612799	0.05545	0.2530986	-1.25518267453229	0.05054	0.2399495	0.757080638561288	0.23451	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.07	-4.96	0.02812	-0.292000	0.08368	-0.467000	0.09002	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.53:0.1263:0.2079:0.1358	2.779	0.05027	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.005051	0.009511	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	488.33	42	chr1	177939725	.	G	A	488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.401;DP=734;ExcessHet=0;FS=3.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.04;SOR=0.252	GT:AD:DP:GQ:PL	0/1:17,18:35:99:502,0,460	18	0	1	0
chr1	180053111	180053111	A	T	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon23:c.A4934T:p.H1645L	.	1	224	1	0	0	1	0.00222717	.	.	.	2443611	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0217243098178	.	.	8.906e-06	0	0	0	0	1.619e-05	0	0	1.29e-05	2	154602	rs763479176	5.496e-06	5.472e-06	4.101e-06	6.904e-06	0.0003	2.36e-06	1.71e-06	6.111e-05	2.528e-05	0	2.292e-05	0	0	0	0.0003	3.606e-06	1.663e-05	0	1.971e-05	1.97e-05	1.285e-05	2.689e-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	0.007	0.59928	D	0.318	0.19246	T	0.704	0.41950	P	0.152	0.34249	B	0.078397	0.21046	N	0.341161	0.945229	0.37479	D	1.59	0.40313	L	0.41	0.57100	T	-3.31	0.65972	D	0.259	0.29313	-1.0840	0.06591	T	0.061	0.25599	T	9	0.087225735	0.14904	T	0.021724	0.44537	T	0.072	0.21020	0.15	0.05339	0.182106788282	0.17826	0.2078053782664928	0.20696	0.0864879405707	0.09766	0.402447640896	0.25410	T	0.026123	0.19398	T	-0.186224	0.22814	T	-0.415543	0.31586	T	0.201098993420601	0.20476	T	0.764923	0.39208	T	0.12177307	0.28630	0.17049669	0.39163	0.12177307	0.28629	0.17049669	0.39162	-3.771	0.20372	T	.	.	0.097	0.15654	B	.	.	3.884362	0.56480	23.7	0.96126886149526336	0.28793	0.88552	0.48533	D	AEFGBI	0.143518	0.26623	N	-0.179583416186968	0.33986	1.934485	-0.0251994568401442	0.38581	2.275046	0.370654020248898	0.19867	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.62	2.97	0.33479	3.261000	0.51233	6.872000	0.56790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.6043:0.1977:0.198:0.0	3.906	0.08684	168	0.93464	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	878.33	36	chr1	180053111	.	A	T	878.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=700;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.38;SOR=1.009	GT:AD:DP:GQ:PL	0/1:36,35:71:99:892,0,883	18	0	1	0
chr1	182530808	182530808	C	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.C2262G:p.D754E,RGSL1:NM_001366934:exon14:c.C2367G:p.D789E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0103	0.0105831	0.0047	0.0371	0.0024	0	0	0	0	0.0001	0.0012484	193	154602	rs76076926	0.0010	0.0010	0.0011	0.0008	0.0360	0.0009	0.0009	0.0342	0.0335	0.0360	0.0012	0	0	0	0.0018	8.447e-05	0.0019	5.097e-05	0.0096	0.0096	0.0098	0.0093	0.0335	0.0091	0.0090	0.0321	0.0315	0.0335	0	0.0028	0	0	0	0	0.0002	0.0038	0	0.413	0.10052	T	0.391	0.15456	T	0.02	0.18235	B	0.04	0.23831	B	.	.	.	.	1	0.08975	N	0.235	0.09667	N	1.85	0.24472	T	-0.74	0.20791	N	0.078	0.05287	.	.	.	.	.	.	.	0.0014108121	0.00015	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.026102706633477003	0.02561	.	.	0.338859170675	0.16266	T	0.002726	0.02115	T	-0.762855	0.00014	T	-0.842803	0.01057	T	.	.	.	0.49905	0.15565	T	0.043710064	0.06861	0.03770628	0.03481	0.043710064	0.06861	0.03770628	0.03481	-3.982	0.23533	T	.	.	0.128	0.27192	B	.	.	-0.916764	0.00898	0.033	0.61717770685574758	0.06779	0.00665	0.02874	N	AEFGBI	0.028254	0.02456	N	.	.	.	.	.	.	0.999999979814801	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	-11.5	0.00057	-1.504000	0.02379	-5.638000	0.01647	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.1578:0.4246:0.1392:0.2784	3.745	0.08071	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001229	0.000000	0.000000	0.004425	0.000000	0.000000	0.000000	0.000000	0.02632	903.33	33	chr1	182530808	.	C	G	903.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.03;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.315;SOR=0.623	GT:AD:DP:GQ:PL	0/1:54,33:87:99:917,0,1541	18	0	1	0
chr1	183024083	183024083	A	G	exonic	LAMC1	.	nonsynonymous SNV	LAMC1:NM_002293:exon1:c.A367G:p.M123V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668	0.0270644664965	.	.	1.252e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs777463859	4.115e-06	4.788e-06	4.093e-06	4.138e-06	5.402e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.402e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.89	0.74793	T	-3.24	0.65171	D	0.838	0.83371	0.036	0.82967	D	0.527	0.82423	D	10	0.84340495	0.83499	D	0.027064	0.49920	D	0.668	0.87674	0.684	0.82175	0.879703552197	0.87853	0.6368371095667293	0.63617	0.478096384883	0.46899	0.732866823673	0.71925	T	0.416987	0.76977	T	0.283158	0.81585	D	0.16896	0.81348	D	0.92522257566452	0.58683	D	0.945705	0.79334	D	0.6155264	0.73524	0.78373915	0.87258	0.6155264	0.73525	0.78373915	0.87259	-8.795	0.66368	D	.	.	0.595	0.68690	P	.	.	3.902598	0.56863	23.8	0.99116859295890647	0.52880	0.78712	0.38876	D	ALL	0.924028	0.90142	D	0.722708040451512	0.81122	7.448668	0.732234095804306	0.84825	8.401553	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	5.49	5.49	0.81022	8.903000	0.92196	10.996000	0.84725	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.609	0.76452	465	0.78421	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2659.33	36	chr1	183024083	.	A	G	2659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.692;DP=946;ExcessHet=0;FS=2.387;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.869;SOR=0.897	GT:AD:DP:GQ:PL	0/1:108,103:211:99:2673,0,2727	18	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,26:147:71:.:.:71,0,2325:.	4	0	15	0
chr1	205993442	205993442	C	T	exonic	RAB7B	.	nonsynonymous SNV	RAB7B:NM_177403:exon2:c.G158A:p.G53D,RAB7B:NM_001164522:exon3:c.G158A:p.G53D,RAB7B:NM_001304839:exon3:c.G158A:p.G53D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038109780	0.0044	0.0018	0.0044	0.0043	0.0053	0.0042	0.0041	0.0033	0.0032	0.0006	0.0016	0.0052	0	0.0181	0.0008	0.0035	0.0040	0.0053	0.0037	0.0037	0.0031	0.0043	0.0037	0.0034	0.0033	0.0033	0.0032	0.0009	0.0011	0.0017	0.0037	0	0.0202	0.0034	0.0037	0.0028	0.0025	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.17828	.	.	.	.	.	.	.	0.008828044	0.00200	T	.	.	.	.	.	.	.	.	.	0.16437700266990063	0.16357	.	.	.	.	.	0.158014	0.50086	T	.	.	.	.	.	.	.	.	.	0.622038	0.24114	T	.	.	.	.	.	.	.	.	-1.238	0.01306	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	1.530567	0.19640	14.36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.658000	0.61192	3.450000	0.38440	-0.260000	0.06918	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	.	.	.	.	.	Small GTP-binding protein domain;Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	615.33	35	chr1	205993442	.	C	T	615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.173;DP=702;ExcessHet=0;FS=1.989;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.151;SOR=0.969	GT:AD:DP:GQ:PL	0/1:51,26:77:99:629,0,1442	18	0	1	0
chr1	207099828	207099828	G	A	exonic	C4BPB	.	nonsynonymous SNV	C4BPB:NM_000716:exon6:c.G658A:p.E220K,C4BPB:NM_001017364:exon6:c.G655A:p.E219K,C4BPB:NM_001017365:exon7:c.G658A:p.E220K,C4BPB:NM_001017366:exon7:c.G655A:p.E219K,C4BPB:NM_001017367:exon7:c.G658A:p.E220K	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	7.7e-05	0.00319489	0.0019	0	0.0003	0	0.0005	0.0002	0.0022	0.0124	0.0015847	245	154602	rs200403210	0.0008	0.0008	0.0005	0.0012	0.0118	0.0008	0.0008	0.0112	0.0110	2.987e-05	2.236e-05	0	0	0.0002	0.0014	0.0001	0.0008	0.0118	0.0004	0.0004	0.0003	0.0005	0.0089	0.0003	0.0003	0.0068	0.0061	2.406e-05	0	0	0	0	0	0	0.0002	0.0005	0.0089	0.244	0.18000	T	0.605	0.07816	T	0.001	0.09854	B	0.003	0.12133	B	0.716791	0.09968	N	0.855319	1	0.08975	N	0.635	0.15989	N	1.82	0.25509	T	-0.62	0.18248	N	0.145	0.18239	-0.9534	0.40380	T	0.023	0.09923	T	10	0.0037302673	0.00069	T	.	.	.	0.008	0.00669	.	.	0.0611884634855	0.05136	0.2707604334934363	0.26989	0.168761779113	0.19026	0.275656819344	0.06894	T	0.069292	0.33673	T	-0.616113	0.00116	T	-0.646749	0.09183	T	0.00606718460364602	0.00067	T	0.591441	0.21800	T	0.053195145	0.10031	0.050218195	0.07836	0.053195145	0.10031	0.050218195	0.07835	-3.491	0.16334	T	.	.	0.104	0.20741	B	.;.;.;.	.;.;.;.	-0.371172	0.02323	0.248	0.61116430728012705	0.06629	0.01625	0.05246	N	AEFBI	0.643370	0.62001	D	-1.5649171726534	0.01449	0.06323573	-1.61101378014446	0.01589	0.07208602	0.999996414264505	0.74766	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.03	-5.75	0.02190	-1.152000	0.03283	-0.261000	0.10426	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.080000	0.17246	0.5575:0.2425:0.2:0.0	7.153	0.24795	629	0.65079	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1241.33	33	chr1	207099828	.	G	A	1241.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.708;DP=703;ExcessHet=0;FS=8.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.27;SOR=0.491	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1255,0,1184	18	0	1	0
chr1	225085608	225085608	A	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon21:c.3392delA:p.M1133Cfs*16	.	455	1039	27	1	0	29	0.0137636	.	.	.	2816092	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00319489	0.0060	0	0.0049	0	0.0018	0.0070	0.0083	0.0078	0.0003074	8	26028	rs555051718	0.0024	0.0023	0.0021	0.0027	0.0130	0.0023	0.0023	0.0106	0.0097	0.0003	0.0028	0.0133	0	0.0010	0.0130	0.0018	0.0035	0.0076	0.0023	0.0023	0.0023	0.0023	0.0079	0.0021	0.0020	0.0059	0.0052	0.0003	0	0.0048	0.0124	0	0.0013	0.0170	0.0022	0.0066	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2056.29	48	chr1	225085607	.	GA	G	2056.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.829;DP=920;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.203;SOR=0.752	GT:AD:DP:GQ:PL	0/1:56,78:134:99:2070,0,1368	18	0	1	0
chr1	225240660	225240660	G	A	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon43:c.G6586A:p.V2196M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.0915065435853	.	0.000998403	0.0003	0	0.0024	0	0	0.0007	0	0	0.0001358	21	154602	rs184912210	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	9.501e-05	0.0005	0.0002	5.616e-05	6.092e-05	0	0.0004	0.0006	0.0005	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	7.221e-05	0	0.0007	0	0	0.0003	0.0034	0.0005	0.0009	0.0006	0.017	0.59928	D	0.002	0.83351	D	0.998	0.73220	D	0.943	0.67921	D	.	.	.	.	0.999772	0.20412	N	2.045	0.56016	M	-2.5	0.89219	D	-2.29	0.55181	N	0.251	0.38438	0.397	0.89057	D	0.722	0.90488	D	9	0.02581042	0.00764	T	0.091507	0.75720	D	0.493	0.77910	.	.	0.607509035438	0.60436	.	.	.	.	0.773482322693	0.77945	T	0.015401	0.12927	T	-0.167396	0.25630	T	-0.124196	0.61457	T	0.0825229957435065	0.10307	T	0.605039	0.24270	T	0.13386692	0.31121	0.2407002	0.49450	0.13386692	0.31121	0.2407002	0.49449	-5.975	0.46070	T	.	.	0.338	0.55801	B	.;.;.	.;.;.	2.820628	0.37159	20.4	0.99886004126903216	0.96126	0.74880	0.36642	D	AEFI	0.206785	0.33302	N	0.370860029473469	0.59848	4.167881	0.319770476167829	0.56704	3.833984	1.45710011164902E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.79	3.93	0.44666	2.971000	0.48940	3.366000	0.37896	0.634000	0.51959	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.224:0.0:0.776:0.0	9.819	0.40037	605	0.67457	.;.;.	.	.	.	.	.	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	0.001247	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	277.33	33	chr1	225240660	.	G	A	277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.042;DP=686;ExcessHet=0;FS=2.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=1.32;SOR=1.103	GT:AD:DP:GQ:PL	0/1:51,16:67:99:291,0,1437	18	0	1	0
chr1	230916242	230916242	C	A	exonic	TTC13	.	nonsynonymous SNV	TTC13:NM_001376509:exon14:c.G1657T:p.D553Y,TTC13:NM_001376514:exon14:c.G1654T:p.D552Y,TTC13:NM_001376508:exon15:c.G1723T:p.D575Y,TTC13:NM_001122835:exon16:c.G1882T:p.D628Y,TTC13:NM_001376511:exon16:c.G1885T:p.D629Y,TTC13:NM_001376512:exon16:c.G1813T:p.D605Y,TTC13:NM_001376507:exon17:c.G1951T:p.D651Y,TTC13:NM_001376513:exon17:c.G1948T:p.D650Y,TTC13:NM_001376510:exon18:c.G2041T:p.D681Y,TTC13:NM_024525:exon18:c.G2044T:p.D682Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.031016608184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.69154	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	0.83	0.47815	T	-1.32	0.32991	N	0.897	0.95841	-0.6404	0.63129	T	0.264	0.63469	T	10	0.757654	0.76104	D	0.031017	0.53199	D	0.320	0.64215	0.322	0.30226	0.395439683604	0.39153	0.6995973872822239	0.69900	1.00358623239	0.74505	0.818699240685	0.84828	D	0.157319	0.49987	T	0.257842	0.79328	D	0.132596	0.79060	D	0.915164589881897	0.57208	D	0.943906	0.78806	D	0.4233447	0.62314	0.30597314	0.56623	0.4233447	0.62314	0.30597314	0.56622	-2.608	0.07312	T	.	.	0.179	0.38994	B	.;.	.;.	5.160780	0.86467	28.9	0.99453043413848363	0.65376	0.98776	0.86705	D	AEFBI	0.869361	0.78986	D	0.776995981085367	0.84648	8.346876	0.80434348893219	0.90095	10.25341	0.999999999999774	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.9	5.9	0.94952	7.568000	0.81546	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.282	0.98522	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2246.33	34	chr1	230916242	.	C	A	2246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.071;DP=809;ExcessHet=0;FS=2.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.081;SOR=0.503	GT:AD:DP:GQ:PL	0/1:87,92:179:99:2260,0,2101	18	0	1	0
chr1	236017198	236017198	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon10:c.G2204A:p.R735H	.	425	1034	60	3	0	66	0.0309278	.	.	.	696593	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.575	.	0.0035	0.00758786	0.0087	0.0014	0.0035	0.0003	0.0194	0.0075	0.0088	0.0220	0.0078654	1216	154602	rs140374909	0.0060	0.0060	0.0054	0.0066	0.0298	0.0059	0.0059	0.0262	0.0248	0.0016	0.0038	0.0204	0.0004	0.0201	0.0298	0.0041	0.0076	0.0211	0.0058	0.0059	0.0049	0.0068	0.0193	0.0055	0.0054	0.0162	0.0150	0.0013	0	0.0065	0.0204	0.0010	0.0193	0.0274	0.0050	0.0062	0.0193	0.065	0.36310	T	0.051	0.47828	T	0.562	0.38380	P	0.219	0.37734	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.94	0.23649	L	-3.04	0.92357	D	-4.0	0.74051	D	0.899	0.89912	0.218	0.86206	D	0.586	0.85136	D	10	0.02833268	0.00966	T	.	.	.	0.575	0.82799	.	.	0.877072477656	0.87587	0.5254772813322914	0.52471	0.862312818367	0.69017	0.457313537598	0.32942	T	0.474465	0.80590	T	-0.00145907	0.51454	T	0.240723	0.85180	D	0.0331431175979164	0.02495	T	0.853215	0.53849	D	0.27889568	0.50942	0.32720947	0.58620	0.27032858	0.50105	0.32720947	0.58620	-5.801	0.44583	T	0.3513368987681945	0.44852	0.073	0.04640	B	.	.	4.355198	0.66921	25.0	0.99925081920638503	0.99042	0.95391	0.64536	D	AEFBCI	0.942119	0.94628	D	0.369368960004452	0.59769	4.159	0.514997655487685	0.68997	5.298048	0.999999999999993	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.548000	0.81103	5.874000	0.50567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.340	0.98759	464	0.78488	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034778	0.015152	0.033967	0.047059	0.000000	0.034483	0.045732	0.018939	0.1053	5515.43	33	chr1	236017198	.	C	T	5515.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.22;DP=1025;ExcessHet=0.7564;FS=1.101;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.766;SOR=0.816	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1213,0,1349	15	0	4	0
chr1	236803473	236803473	A	G	exonic	MTR	.	nonsynonymous SNV	MTR:NM_000254:exon2:c.A80G:p.Q27R,MTR:NM_001291939:exon2:c.A80G:p.Q27R	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1404926	Methylcobalamin_deficiency_type_cblG	MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00760383036229	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039659576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02021	T	0.814	0.03898	T	0.0	0.02946	B	0.0	0.01387	B	0.344447	0.13912	N	0.691702	0.999716	0.48481	D	-0.125	0.04555	N	1.34	0.34841	T	-0.16	0.11728	N	0.074	0.04790	-1.0378	0.17985	T	0.035	0.15160	T	10	0.029251128	0.01052	T	0.007604	0.20166	T	0.053	0.14996	0.263	0.20788	0.143124449307	0.13826	0.41828153849886857	0.41744	0.436091485384	0.43710	0.208011746407	0.00729	T	0.09631	0.39799	T	-0.332057	0.05957	T	-0.714754	0.05053	T	0.0300689339637756	0.02001	T	0.721228	0.33447	T	0.08327408	0.19223	0.05444965	0.09369	0.08327408	0.19223	0.05444965	0.09368	-4.094	0.26141	T	0.0819555803140636	0.04284	0.073	0.07412	B	.;.	.;.	-1.858616	0.00138	0.002	0.37302360178970945	0.02450	0.03519	0.08702	N	AEFBI	0.039799	0.05830	N	-1.71251584020415	0.00798	0.03449532	-1.74430864442175	0.00955	0.04275578	0.999893779186521	0.45129	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.95	-8.26	0.00895	-0.592000	0.05841	-6.386000	0.01413	-1.600000	0.00894	0.035000	0.20724	0.000000	0.08366	0.854000	0.40426	0.7208:0.0:0.2792:0.0	17.784	0.88442	724	0.55085	.;Homocysteine-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	.	.	.	.	.	.	.	.	0.02632	2504.33	35	chr1	236803473	.	A	G	2504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.043;DP=866;ExcessHet=0;FS=4.354;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.92;SOR=0.735	GT:AD:DP:GQ:PL	0/1:136,107:243:99:2518,0,3432	18	0	1	0
chr1	241766288	241766288	C	T	exonic	WDR64	.	nonsynonymous SNV	WDR64:NM_001367482:exon16:c.C2018T:p.A673V	.	.	.	.	.	.	.	.	.	.	.	2754525	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.0124773695242	0.0005	0.000399361	0.0001	0.0013	0.0002	0	0	0	0	0	0.0001229	19	154602	rs145632789	4.447e-05	4.446e-05	6.398e-05	2.475e-05	0.0014	3.575e-05	3.257e-05	0.0011	0.0010	0.0014	0.0002	0	0	0	0	1.799e-06	0.0001	0	0.0004	0.0004	0.0004	0.0005	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0002	0	0	0	0	0	0.0005	0	0.217	0.19157	T	0.105	0.58613	T	0.107	0.26081	B	0.079	0.28749	B	0.927126	0.07512	N	1.035820	0.994752	0.23450	N	0.895	0.22405	L	0.07	0.61677	T	-2.8	0.59226	D	0.205	0.22742	-0.9443	0.41927	T	0.159	0.49313	T	10	0.013890326	0.00293	T	0.012477	0.31090	T	0.151	0.39764	.	.	0.0611884634855	0.05136	0.5353980447279344	0.53464	0.0777821467328	0.08748	0.313370943069	0.12417	T	0.083605	0.37092	T	-0.418798	0.01741	T	-0.398978	0.33502	T	0.0197413146968783	0.00676	T	0.668933	0.27772	T	0.04672158	0.07867	0.106038414	0.25501	0.04672158	0.07867	0.106038414	0.25500	-6.813	0.52656	T	.	.	0.087	0.21163	B	.;.;.	.;.;.	0.269617	0.06474	2.950	0.83259432452564197	0.14628	0.05506	0.11394	N	AEFI	0.058060	0.10864	N	-0.607987208991156	0.18703	0.9731615	-0.74800429062129	0.15772	0.831114	1.3044934102458E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.91	0.848	0.18105	-0.241000	0.08958	-1.216000	0.06000	-0.186000	0.09761	0.202000	0.24332	0.000000	0.08366	0.559000	0.30388	0.0:0.6666:0.0:0.3334	8.243	0.30829	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1469.33	35	chr1	241766288	.	C	T	1469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.688;DP=755;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-1.892;SOR=0.794	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1483,0,1273	18	0	1	0
chr1	241958270	241958270	C	G	exonic	BECN2	.	nonsynonymous SNV	BECN2:NM_001290693:exon1:c.C504G:p.D168E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.244e-07	2.052e-06	1.753e-06	0	1.085e-06	0	0	.	.	0	0	0	0	0	0	1.085e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.057825506	0.06702	T	.	.	.	.	.	.	.	.	.	0.27479183497739745	0.27392	.	.	.	.	.	0.011085	0.09936	T	.	.	.	.	.	.	.	.	.	0.59644	0.22167	T	0.11828378	0.27871	0.23346823	0.48537	0.11828378	0.27871	0.23346823	0.48536	-1.882	0.02765	T	.	.	0.132	0.28435	B	.	.	0.272404	0.06499	2.978	0.77924432720397407	0.12080	0.05915	0.11868	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.897272608302559	0.25998	0.053691	0.00478	0	0.063388	0.01293	0	0.048193	0.00230	0	0.062806	0.01542	0	0.0760639	0.17615	4.83	-2.44	0.06126	-0.212000	0.09323	-0.845000	0.07201	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.369000	0.26088	0.2444:0.2466:0.3412:0.1678	1.447	0.02223	826	0.39940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1633.33	57	chr1	241958270	.	C	G	1633.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.518;DP=1018;ExcessHet=0;FS=5.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.594;SOR=0.348	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1647,0,1622	18	0	1	0
chr1	242089925	242089925	A	G	exonic	PLD5	.	nonsynonymous SNV	PLD5:NM_001195812:exon9:c.T916C:p.F306L,PLD5:NM_001195811:exon10:c.T1354C:p.F452L,PLD5:NM_001372062:exon10:c.T1540C:p.F514L,PLD5:NM_001320272:exon11:c.T1264C:p.F422L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00451390054103	0.0013	0.000599042	0.0004	0.0037	0.0002	0	0	5.994e-05	0	0	0.0003234	50	154602	rs138174975	0.0002	0.0002	0.0002	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	0.0005	7.652e-05	0	0	0.0005	3.867e-05	0.0004	5.797e-05	0.0011	0.0011	0.0011	0.0011	0.0036	0.0009	0.0009	0.0031	0.0030	0.0036	0	0.0009	0	0	0	0	1.47e-05	0	0	0.463	0.08660	T	0.38	0.15988	T	0.0	0.02946	B	0.0	0.01387	B	0.882638	0.07245	N	1.054610	0.997427	0.23214	N	-0.255	0.03828	N	1.03	0.40469	T	-0.15	0.09297	N	0.054	0.03956	-1.0125	0.26133	T	0.032	0.13898	T	10	0.004786551	0.00101	T	0.004514	0.11094	T	0.025	0.05312	0.265	0.21103	0.168933306366	0.16529	0.4792396560182877	0.47843	0.512863739699	0.49304	0.315144240856	0.12685	T	0.015224	0.12811	T	-0.571094	0.00218	T	-0.594586	0.13270	T	0.010975650656533	0.00158	T	0.572043	0.20399	T	0.050784152	0.09228	0.045518152	0.06144	0.050784152	0.09227	0.045518152	0.06143	-1.874	0.02739	T	.	.	0.240	0.47426	B	.;.;.	.;.;.	1.159055	0.15475	11.88	0.93036229243035062	0.22639	0.93011	0.57101	D	AEFBIJ	0.122577	0.23778	N	-0.664717603713322	0.17033	0.8730542	-0.470895941371624	0.22960	1.249708	3.93042688469783E-5	0.03775	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.92	2.57	0.29928	0.359000	0.19970	1.063000	0.23738	0.756000	0.94297	0.976000	0.34826	0.916000	0.28226	0.923000	0.45890	0.8108:0.0:0.1892:0.0	6.664	0.22219	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2004.33	42	chr1	242089925	.	A	G	2004.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.065;DP=938;ExcessHet=0;FS=2.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.288;SOR=0.526	GT:AD:DP:GQ:PL	0/1:105,87:192:99:2018,0,2557	18	0	1	0
chr1	247256848	247256848	C	T	exonic	VN1R5	.	unknown	UNKNOWN	.	431	1068	21	2	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00239617	0.0018	0	0.0010	0	0	0.0001	0.0011	0.0118	0.0015653	242	154602	rs370336884	0.0008	0.0008	0.0005	0.0011	0.0113	0.0008	0.0008	0.0107	0.0105	8.961e-05	0.0006	0.0004	0	1.873e-05	0.0031	0.0001	0.0010	0.0113	0.0005	0.0005	0.0003	0.0007	0.0112	0.0004	0.0004	0.0088	0.0080	0.0001	0	0.0001	0.0006	0	0	0	0.0002	0.0005	0.0112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.02632	2761.33	140	chr1	247256848	.	C	T	2761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=1348;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.06;SOR=0.688	GT:AD:DP:GQ:PL	0/1:79,99:178:99:2775,0,1985	18	0	1	0
chr1	247921313	247921315	TCT	-	exonic	OR2T8	.	nonframeshift deletion	OR2T8:NM_001005522:exon1:c.296_298del:p.F101del	.	690	821	8	3	0	14	0.00845411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0038	0	0.0019	0	0	0.0011	0.0192	0.0267	6.5e-06	1	154602	rs374461351	0.0026	0.0019	0.0016	0.0036	0.0239	0.0025	0.0025	0.0229	0.0224	0	0.0006	0.0003	9.208e-05	0	0.0094	0.0009	0.0022	0.0239	0.0009	0.0011	0.0005	0.0013	0.0178	0.0007	0.0007	0.0132	0.0116	9.807e-05	0	0.0004	0.0004	0	0	0	0.0008	0.0019	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005240	0.000000	0.000000	0.020619	0.000000	0.011364	0.004808	0.010753	0.05263	622.79	33	chr1	247921312	.	ATCT	A	622.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.205;DP=419;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=34.97;MQRankSum=1.87;QD=16.83;ReadPosRankSum=0.924;SOR=0.527	GT:AD:DP:GQ:PL	0/1:8,6:14:99:228,0,318	17	0	2	0
chr1	248273512	248273514	GAA	-	exonic	OR2T33	.	nonframeshift deletion	OR2T33:NM_001004695:exon1:c.301_303del:p.F101del	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0004	0.0002	0	0	0.0008	0.0055	0.0201	0.0001153	3	26028	rs747751796	0.0003	0.0014	0.0003	0.0003	0.0031	0.0003	0.0003	0.0028	0.0027	8.969e-05	8.949e-05	0	2.519e-05	0	0.0006	0.0001	0.0005	0.0031	2.628e-05	0.0003	3.855e-05	1.344e-05	0.0002	8.14e-06	5.14e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0	1.471e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007592	0.000000	0.002725	0.012605	0.000000	0.017241	0.019231	0.011538	0.05263	139.63	41	chr1	248273511	.	GGAA	G	139.63	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.21;DP=2142;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0516;MLEAC=1;MLEAF=0.026;MQ=44.51;MQRankSum=-1.968;QD=0.35;ReadPosRankSum=2.92;SOR=0.635	GT:AD:DP:GQ:PL	0/1:173,16:189:99:151,0,7116	17	0	2	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4591.79	177	chr1	248441544	.	G	A	4591.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.76;DP=2380;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=46.1;MQRankSum=7.76;QD=11.37;ReadPosRankSum=2.85;SOR=0.699	GT:AD:DP:GQ:PL	0/1:68,62:130:99:1577,0,1665	16	0	3	0
chr2	9875936	9875936	A	T	exonic	TAF1B	.	nonsynonymous SNV	TAF1B:NM_005680:exon7:c.A625T:p.M209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0133429317933	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937710557	4.106e-06	4.104e-06	0	8.253e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.0	0.92824	D	0.994	0.66517	D	0.97	0.72226	D	0.000000	0.84330	D	0.037618	0.999695	0.81001	D	1.995	0.54099	M	3.94	0.03408	T	-0.96	0.25551	N	0.714	0.71676	-1.1573	0.00823	T	0.034	0.14552	T	9	0.89380705	0.88730	D	0.013343	0.32667	T	0.263	0.57612	0.793	0.91438	0.544870321563	0.54141	0.5541538769331675	0.55342	0.166112929537	0.18743	0.633054256439	0.57578	T	0.036245	0.24031	T	0.0136571	0.53523	T	-0.218159	0.52913	T	0.444898003106536	0.30609	T	0.651635	0.26249	T	0.3316923	0.55609	0.21191016	0.45639	0.3316923	0.55609	0.21191016	0.45638	-2.945	0.09600	T	.	.	0.323	0.54718	B	.	.	3.635129	0.51511	23.1	0.95474876251849261	0.27027	0.94499	0.61362	D	AEFBI	0.536237	0.55453	D	0.562666947671187	0.70858	5.564	0.540425274275952	0.70732	5.548903	0.980895649500092	0.30191	0.706548	0.73137	0	0.601575	0.49859	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	6.042000	0.70632	11.178000	0.88207	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.591000	0.31164	1.0:0.0:0.0:0.0	13.707	0.62126	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1336.33	35	chr2	9875936	.	A	T	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.74;DP=725;ExcessHet=0;FS=4.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.07;SOR=0.974	GT:AD:DP:GQ:PL	0/1:56,54:110:99:1350,0,1338	18	0	1	0
chr2	10080109	10080109	G	A	exonic	CYS1	.	nonsynonymous SNV	CYS1:NM_001037160:exon1:c.C115T:p.P39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00421334204261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371700952	1.137e-06	6.91e-05	2.136e-06	0	0.0003	0	0	.	.	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.399	0.15059	T	0.84	0.46486	P	0.184	0.35999	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.79	0.21860	N	0.032	0.00825	-1.0356	0.18668	T	0.035	0.14857	T	8	0.13852185	0.26344	T	0.004213	0.10153	T	0.017	0.02790	0.342	0.33464	0.0611884634855	0.05136	0.04306581180124222	0.04251	0.1364358858	0.15394	0.650595545769	0.60070	T	0.529366	0.83685	D	-0.262853	0.12569	T	-0.615346	0.11554	T	0.0463097532928028	0.04841	T	0.30127	0.05674	T	0.045678508	0.07518	0.059973694	0.11346	0.045678508	0.07518	0.059973694	0.11346	-4.05	0.24549	T	.	.	0.079	0.07507	B	.	.	0.007734	0.04336	1.103	0.87950059278364734	0.17603	0.00115	0.00727	N	AEFDBHCI	0.028579	0.02542	N	-0.81269255193085	0.12985	0.6366258	-0.998186377630273	0.09825	0.4911229	0.999999920222225	0.74766	0.495885	0.18260	0	0.166054	0.03914	2	0.608004	0.38603	0	0.554799	0.18163	0	.	.	1.27	-0.104	0.12943	-1.095000	0.03466	0.150000	0.15280	-0.334000	0.05750	0.000000	0.06391	0.002000	0.18203	0.001000	0.02609	0.0:0.4225:0.5774:0.0	4.501	0.11275	913	0.21160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	86.18	2	chr2	10080109	.	G	A	86.18	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0;DP=112;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.067;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=-1.383;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,2:7:28:.:.:28,0,120:.	17	0	2	0
chr2	19953904	19953904	G	A	exonic	WDR35	.	nonsynonymous SNV	WDR35:NM_020779:exon12:c.C1330T:p.R444C,WDR35:NM_001006657:exon13:c.C1363T:p.R455C	Cranioectodermal dysplasia 2, Autosomal recessive;Short-rib thoracic dysplasia 7 with or without polydactyly, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1372487	Cranioectodermal_dysplasia_2|Short-rib_thoracic_dysplasia_7_with_or_without_polydactyly	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,Orphanet:1515|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Orphanet:498497,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.869	0.214607601372	7.7e-05	0.000599042	9.885e-05	9.612e-05	8.637e-05	0	0	0.0001	0	0.0001	0.0001164	18	154602	rs148510977	6.362e-05	6.43e-05	5.581e-05	7.151e-05	0.0003	5.295e-05	4.911e-05	0.0002	0.0002	0.0003	0.0003	3.827e-05	0	0	0.0002	4.856e-05	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0002	0.0003	0	0.0006	0	0.0002	0	0	7.351e-05	0.0005	0	0.001	0.78490	D	0.005	0.72224	D	0.998	0.73220	D	0.785	0.57495	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	-2.88	0.91533	D	-5.53	0.86073	D	0.658	0.68082	0.899	0.95659	D	0.870	0.95664	D	10	0.64726526	0.69398	D	0.214608	0.87466	D	0.869	0.96059	.	.	0.937330376352	0.93667	0.6717399616663976	0.67111	0.499295131401	0.48378	0.595824718475	0.52315	T	0.276068	0.64864	T	0.214378	0.75244	D	0.376139	0.91290	D	0.628755629062653	0.37566	D	0.985835	0.95215	D	0.46877182	0.65214	0.4956106	0.70831	0.46877182	0.65215	0.4956106	0.70831	-10.259	0.77545	D	0.4993043249088026	0.57480	0.224	0.53815	B	.;.	.;.	4.966706	0.82161	27.7	0.99929745880135079	0.99279	0.97038	0.72331	D	AEFBI	0.838559	0.75606	D	0.762314131097214	0.83705	8.087718	0.756372907968317	0.86633	8.951993	0.999960536837667	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	5.473000	0.66502	7.581000	0.60964	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.696	0.91561	948	0.11499	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2086.33	40	chr2	19953904	.	G	A	2086.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=735;ExcessHet=0;FS=0.843;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.45;ReadPosRankSum=2.04;SOR=0.713	GT:AD:DP:GQ:PL	0/1:27,75:102:99:2100,0,434	18	0	1	0
chr2	21010161	21010161	A	G	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.T6707C:p.I2236T	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	908214	Cardiovascular_phenotype|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1	MedGen:CN230736|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0125308001126	.	.	8.462e-06	0	0	0	0	1.543e-05	0	0	6.5e-06	1	154602	rs781584312	8.966e-06	9.577e-06	6.84e-06	1.113e-05	0.0002	5e-06	3.86e-06	5.35e-06	3.91e-06	0	0	0	0	0	0.0002	9.967e-06	1.671e-05	0	6.569e-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	0.091	0.31834	T	0.219	0.25987	T	.	.	.	.	.	.	0.646638	0.10551	N	0.837947	0.999695	0.20667	N	.	.	.	5.41	0.01008	T	-2.2	0.49519	N	0.056	0.02759	-0.7312	0.58903	T	0.003	0.01092	T	10	0.114061385	0.21447	T	0.012531	0.31184	T	0.088	0.25558	.	.	0.567569374525	0.56422	0.5094205167977288	0.50864	0.0691614642767	0.07740	0.290775895119	0.09035	T	.	.	.	-0.310261	0.07726	T	-0.667959	0.07740	T	0.0550193267242428	0.06361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00604	B	.	.	2.063217	0.26232	17.05	0.87718046780470038	0.17430	0.88442	0.48372	D	AEFBCI	0.580081	0.58064	D	-0.364600464647266	0.26739	1.461624	-0.218146160891459	0.30885	1.742918	0.999874198840801	0.44625	0.500041	0.20204	0	0.59043	0.45803	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.76	4.61	0.56724	3.581000	0.53658	6.122000	0.53799	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.870000	0.41412	0.758:0.0:0.075:0.167	6.740	0.22621	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	.	.	.	.	.	.	.	.	0.02632	5943.33	41	chr2	21010161	.	A	G	5943.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.787;DP=2282;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.982;SOR=0.589	GT:AD:DP:GQ:PL	0/1:207,218:425:99:5957,0,6010	18	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,22:66:99:.:.:115,0,585:.	2	0	17	0
chr2	26583844	26583844	C	T	exonic	CIB4	.	nonsynonymous SNV	CIB4:NM_001029881:exon5:c.G383A:p.R128Q	.	.	.	.	.	.	.	.	.	.	.	3293700	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.0710740305799	.	.	4.123e-05	0	0	0.0002	0	4.501e-05	0	0	3.23e-05	5	154602	rs149619875	2.874e-05	2.941e-05	2.86e-05	2.889e-05	8.968e-05	2.152e-05	1.908e-05	2.376e-05	2.023e-05	8.968e-05	0	0	7.557e-05	0	0	3.148e-05	1.657e-05	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	7.239e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	1.47e-05	0	0	0.34	0.12714	T	0.504	0.11041	T	1.0	0.90584	D	0.981	0.75168	D	0.000209	0.47681	D	0.000000	1	0.08975	N	1.585	0.39878	L	-0.55	0.71068	T	-1.82	0.42763	N	0.622	0.63713	-0.5737	0.65867	T	0.405	0.75543	T	10	0.69299513	0.71970	D	0.071074	0.71172	D	0.391	0.70684	0.422	0.46529	0.737742724758	0.73540	0.35434072508297254	0.35348	0.0454713089873	0.04930	0.343039393425	0.16893	T	0.181226	0.53282	T	-0.157549	0.27139	T	-0.171936	0.57265	T	0.305554330348969	0.25232	T	0.777622	0.41060	T	0.0797772	0.18245	0.055823345	0.09864	0.0797772	0.18245	0.055823345	0.09864	-5.756	0.44189	T	.	.	0.265	0.49988	B	.	.	3.319457	0.45644	22.2	0.99752288120174082	0.84382	0.36155	0.25468	N	AEFDBI	0.160565	0.28652	N	0.131819980126888	0.47952	3.013844	0.00452662879358041	0.39925	2.374677	0.913837261593012	0.26435	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.53	4.65	0.57626	2.480000	0.44865	4.837000	0.45250	0.599000	0.40250	0.873000	0.30851	0.960000	0.29291	0.014000	0.10232	0.0:0.9111:0.0:0.0889	10.704	0.45141	401	0.82673	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1056.33	33	chr2	26583844	.	C	T	1056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.491;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.32;SOR=0.733	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1070,0,1008	18	0	1	0
chr2	27456514	27456514	T	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon30:c.A3368G:p.N1123S	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	419	1095	7	1	0	9	0.00409277	.	.	.	1041317	Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71|Inborn_genetic_diseases|IFT172-related_disorder|Bardet-Biedl_syndrome_20|not_provided	MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0023670,MedGen:C4310707,OMIM:619471|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.00841121746276	7.7e-05	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs146615936	8.557e-05	8.756e-05	6.675e-05	0.0001	0.0010	7.317e-05	6.821e-05	0.0008	0.0008	0	2.241e-05	0	0	0	0.0004	2.789e-05	4.973e-05	0.0010	3.939e-05	3.937e-05	5.139e-05	2.686e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.94e-05	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000001	0.84330	D	0.124571	0.999778	0.48980	D	0.18	0.09070	N	1.03	0.40469	T	-0.2	0.10136	N	0.106	0.09066	-1.0556	0.12882	T	0.051	0.21611	T	10	0.025084227	0.00714	T	0.008411	0.22257	T	0.113	0.31778	.	.	0.24896430686	0.24499	0.14352358026625084	0.14275	0.140332092331	0.15827	0.351770758629	0.18183	T	0.066354	0.32924	T	-0.587835	0.00173	T	-0.693865	0.06167	T	0.0192572438343846	0.00631	T	0.855114	0.54241	D	0.026875498	0.01801	0.046596542	0.06530	0.026875498	0.01800	0.046596542	0.06530	-7.698	0.58994	D	0.14072430283414925	0.15771	0.064	0.01738	B	.	.	1.257873	0.16555	12.61	0.54390277377086715	0.05128	0.91750	0.54184	D	AEFDBI	0.360668	0.45055	N	-0.474813447043266	0.22907	1.226495	-0.252695479960757	0.29678	1.664706	0.999783127555041	0.43007	0.706548	0.73137	0	0.670034	0.63936	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	2.550000	0.45472	4.194000	0.42423	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0763:0.0:0.9237	10.448	0.43694	61	0.97388	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	542.33	34	chr2	27456514	.	T	C	542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.25;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.057;SOR=0.544	GT:AD:DP:GQ:PL	0/1:24,21:45:99:556,0,764	18	0	1	0
chr2	28598015	28598015	G	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon33:c.G2299A:p.D767N,PLB1:NM_153021:exon34:c.G2332A:p.D778N	.	437	1073	12	0	0	12	0.0055607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00963632963104	.	0.000199681	0.0003	9.617e-05	0	0	0	3.002e-05	0	0.0019	0.0002329	36	154602	rs552024753	0.0002	0.0002	9.943e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	2.237e-05	0	0	0	0.0014	3.239e-05	0.0002	0.0021	0.0001	0.0001	8.996e-05	0.0001	0.0021	7.087e-05	5.744e-05	0.0011	0.0009	0	0	6.533e-05	0	0	0	0	8.821e-05	0	0.0021	0.094	0.32296	T	0.003	0.76473	D	1.0	0.90584	D	0.997	0.88582	D	0.000002	0.62929	D	0.000000	0.995241	0.42605	D	2.515	0.73286	M	2.48	0.14657	T	-2.68	0.57275	D	0.568	0.59393	-1.1474	0.01105	T	0.102	0.37618	T	10	0.053490937	0.05550	T	0.009636	0.25199	T	0.195	0.47612	0.44	0.49484	0.364926071151	0.36103	0.6418088248259142	0.64115	0.20079379822	0.22476	0.433969497681	0.29752	T	0.046907	0.27566	T	-0.534477	0.00361	T	-0.54778	0.17539	T	0.191810347500441	0.19951	T	0.815518	0.47040	T	0.3001473	0.52918	0.24967673	0.50543	0.3001473	0.52918	0.24967673	0.50542	-8.936	0.67833	D	.	.	0.190	0.41031	B	.;.	.;.	4.482085	0.69940	25.4	0.99920786309927934	0.98721	0.90781	0.52248	D	AEFDBI	0.412492	0.48254	N	0.712972482723081	0.80482	7.304084	0.704815970856109	0.82744	7.84363	0.999999999997549	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	6.03	6.03	0.97798	4.063000	0.57214	9.846000	0.81956	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.729000	0.35066	0.0:0.0:1.0:0.0	17.476	0.87554	720	0.55521	GDSL lipase/esterase|Phospholipase B;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1600.33	36	chr2	28598015	.	G	A	1600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.45;DP=740;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-2.39;SOR=0.786	GT:AD:DP:GQ:PL	0/1:59,64:123:99:1614,0,1438	18	0	1	0
chr2	43875162	43875162	C	T	exonic	ABCG8	.	nonsynonymous SNV	ABCG8:NM_001357321:exon11:c.C1502T:p.P501L,ABCG8:NM_022437:exon11:c.C1505T:p.P502L	Sitosterolemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2104130	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.832	0.236598454583	.	.	1.649e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs761153163	2.531e-05	2.531e-05	3.403e-05	1.65e-05	0.0003	1.868e-05	1.631e-05	0.0002	0.0001	0	0.0003	0	0	0	0	1.978e-05	4.967e-05	0	9.853e-05	9.85e-05	8.99e-05	0.0001	0.0007	6.005e-05	4.878e-05	0.0004	0.0003	2.412e-05	0	0.0007	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	-0.89	0.74793	T	-9.64	0.98556	D	0.961	0.97095	0.294	0.87466	D	0.583	0.85035	D	10	0.9247127	0.91821	D	0.236598	0.88507	D	0.832	0.94691	0.688	0.82558	0.938835521695	0.93820	0.9212514961884668	0.92101	0.121385338241	0.13675	0.668998479843	0.62694	T	0.775173	0.94014	D	0.239967	0.77658	D	0.282767	0.87270	D	0.9943026304245	0.85516	D	0.953205	0.82144	D	0.8562103	0.87798	0.65593284	0.79855	0.8562103	0.87799	0.65593284	0.79855	-7.994	0.61030	D	0.3765634251142148	0.47148	0.266	0.50054	B	.;.	.;.	5.251072	0.88165	29.5	0.99812631636508942	0.89620	0.97905	0.78016	D	AEFDBI	0.961381	0.98259	D	0.653781618006422	0.76614	6.519113	0.572592785622157	0.72983	5.896472	0.999999999832432	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	7.417000	0.79365	6.020000	0.52779	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.582000	0.30943	0.0:1.0:0.0:0.0	17.471	0.87541	824	0.40336	ABC-2 type transporter;ABC-2 type transporter	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	679.33	33	chr2	43875162	.	C	T	679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=1.3;SOR=0.779	GT:AD:DP:GQ:PL	0/1:26,24:50:99:693,0,694	18	0	1	0
chr2	55217953	55217953	T	C	exonic	CLHC1	.	nonsynonymous SNV	CLHC1:NM_001353780:exon4:c.A223G:p.K75E,CLHC1:NM_152385:exon4:c.A223G:p.K75E	.	.	.	.	.	.	.	.	.	.	.	3656644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0288741078379	.	.	4.194e-05	9.72e-05	8.696e-05	0.0001	0	1.517e-05	0	6.478e-05	3.23e-05	5	154602	rs773186159	3.138e-05	3.215e-05	3.471e-05	2.802e-05	9.77e-05	2.392e-05	2.135e-05	4.791e-05	3.525e-05	0	4.951e-05	0	2.61e-05	0	0	3.095e-05	0	9.77e-05	3.942e-05	3.94e-05	0	8.069e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.997123	0.81001	D	2.685	0.78553	M	0.51	0.55439	T	-2.33	0.74051	N	0.912	0.91391	-0.3408	0.73820	T	0.342	0.70778	T	10	0.36936405	0.53353	T	0.028874	0.51484	D	0.208	0.49714	0.207	0.12356	0.449088463789	0.44533	0.7404621057900231	0.73991	0.0539975230124	0.05968	0.611887812614	0.54584	T	0.082669	0.36880	T	0.162967	0.70476	D	0.180958	0.82049	D	0.364825929717441	0.27597	T	0.761124	0.39853	T	0.753092	0.81048	0.80526125	0.88600	0.753092	0.81049	0.80526125	0.88601	-10.465	0.76646	D	0.8203786253296779	0.89349	0.765	0.76393	P	.;.;.	.;.;.	4.521219	0.70884	25.6	0.998555828432941	0.93458	0.94357	0.60908	D	AEFI	0.757256	0.69627	D	0.753304856391709	0.83119	7.934784	0.745446928428057	0.85817	8.695045	0.999975356475771	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.96	5.96	0.96695	5.276000	0.65391	7.889000	0.72943	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.101	0.80981	422	0.81333	Translin-associated factor X-interacting protein 1, N-terminal;Translin-associated factor X-interacting protein 1, N-terminal;Translin-associated factor X-interacting protein 1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1171.33	35	chr2	55217953	.	T	C	1171.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.885;DP=723;ExcessHet=0;FS=7.416;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.86;SOR=0.736	GT:AD:DP:GQ:PL	0/1:52,54:106:99:1185,0,1378	18	0	1	0
chr2	62993545	62993545	C	G	exonic	EHBP1	.	nonsynonymous SNV	EHBP1:NM_001142615:exon17:c.C2749G:p.L917V,EHBP1:NM_001142616:exon17:c.C2749G:p.L917V,EHBP1:NM_001354217:exon17:c.C2854G:p.L952V,EHBP1:NM_001354218:exon17:c.C2749G:p.L917V,EHBP1:NM_001354219:exon17:c.C2746G:p.L916V,EHBP1:NM_001354220:exon17:c.C2746G:p.L916V,EHBP1:NM_001354222:exon17:c.C1903G:p.L635V,EHBP1:NM_001142614:exon18:c.C2857G:p.L953V,EHBP1:NM_001354212:exon19:c.C2962G:p.L988V,EHBP1:NM_001354213:exon19:c.C2962G:p.L988V,EHBP1:NM_001354214:exon19:c.C2962G:p.L988V,EHBP1:NM_001354215:exon19:c.C2959G:p.L987V,EHBP1:NM_001354216:exon19:c.C2959G:p.L987V,EHBP1:NM_001354221:exon19:c.C2116G:p.L706V,EHBP1:NM_015252:exon19:c.C2962G:p.L988V	.	.	.	.	.	.	.	.	.	.	.	3221300	EHBP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0124398984289	0.0011	0.000199681	0.0010	0.0003	0.0004	0	0	0.0014	0.0011	0.0012	0.0009961	154	154602	rs150215775	0.0012	0.0012	0.0012	0.0013	0.0020	0.0012	0.0012	0.0017	0.0016	0.0002	0.0005	0.0003	0	0.0003	0.0005	0.0014	0.0008	0.0020	0.0008	0.0008	0.0009	0.0008	0.0017	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0004	0.0006	0	0.0002	0	0.0014	0	0.0017	0.459	0.24955	T	0.507	0.11227	T	0.328	0.33195	B	0.053	0.31289	B	0.029254	0.25481	N	0.393637	0.760827	0.34036	D	0.695	0.17993	N	-0.78	0.73949	T	-0.54	0.18459	N	0.145	0.14622	-0.7898	0.55741	T	0.163	0.49897	T	10	0.011664897	0.00254	T	0.01244	0.31014	T	0.135	0.36572	.	.	0.43068463968	0.42687	0.2262068955260195	0.22535	0.102553780101	0.11607	0.288395822048	0.08689	T	0.010154	0.09196	T	-0.402026	0.02245	T	-0.374886	0.36320	T	0.0278418358172615	0.01665	T	0.910709	0.71216	D	0.101232074	0.23911	0.08370412	0.19203	0.101232074	0.23910	0.08370412	0.19203	-3.655	0.19067	T	.	.	0.067	0.02428	B	.;.;.;.	.;.;.;.	2.171093	0.27664	17.54	0.91071297199696499	0.20323	0.94423	0.61117	D	AEFBI	0.529650	0.55068	D	0.258317075518706	0.54050	3.571773	0.380061436528824	0.60336	4.220063	0.985050314080483	0.30820	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.92	5.92	0.95557	1.339000	0.33489	2.794000	0.34813	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.994000	0.71098	0.1417:0.8582:0.0:0.0	15.080	0.71774	351	0.85421	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	916.33	34	chr2	62993545	.	C	G	916.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.209;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=2.06;SOR=0.644	GT:AD:DP:GQ:PL	0/1:46,38:84:99:930,0,1118	18	0	1	0
chr2	70984617	70984617	C	G	exonic	ANKRD53	.	nonsynonymous SNV	ANKRD53:NM_001115116:exon6:c.C910G:p.H304D,ANKRD53:NM_001369683:exon6:c.C808G:p.H270D	.	425	1089	8	0	0	8	0.00365965	.	.	.	3986003	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0377383374609	7.7e-05	.	0.0002	0.0002	0.0014	0	0	3.014e-05	0	0.0002	0.0001488	23	154602	rs374591854	6.774e-05	6.772e-05	6.807e-05	6.74e-05	0.0006	5.671e-05	5.262e-05	0.0004	0.0004	0	0.0006	0	0	0	0.0002	2.968e-05	0.0001	0.0003	7.222e-05	7.217e-05	0.0001	2.685e-05	0.0003	3.968e-05	3.125e-05	0.0001	8.279e-05	2.405e-05	0	0.0003	0	0	0	0	4.41e-05	0.0005	0.0002	0.073	0.35537	T	0.009	0.66756	D	0.808	0.45299	P	0.353	0.42910	B	0.237948	0.15775	N	0.566774	1.000	0.20292	N	1.445	0.36358	L	-0.07	0.65378	T	-1.71	0.40660	N	0.297	0.33578	-1.0280	0.21103	T	0.128	0.43564	T	10	0.025941402	0.00773	T	0.037738	0.57799	D	0.068	0.19811	.	.	0.666079160208	0.66326	0.6382441236999145	0.63758	0.982510094696	0.73790	0.345086455345	0.17195	T	0.005111	0.04549	T	-0.384933	0.02899	T	-0.416062	0.31527	T	0.0506516432817852	0.05614	T	0.593441	0.21910	T	0.08597838	0.19966	0.106225796	0.25550	0.08597838	0.19966	0.106225796	0.25549	-2.889	0.09034	T	.	.	0.305	0.53379	B	.;.	.;.	2.474242	0.31895	18.88	0.94396491718994835	0.24783	0.23567	0.22118	N	AEFDBHCI	0.123986	0.23985	N	-0.465153108125891	0.23229	1.24595	-0.542596939560754	0.21002	1.134145	0.999999924314892	0.74766	0.656854	0.48797	0	0.615948	0.52940	0	0.607795	0.38427	0	0.699908	0.69081	0	.	.	3.91	2.98	0.33575	0.470000	0.21795	2.405000	0.32612	0.596000	0.33519	0.004000	0.16614	0.990000	0.31317	0.109000	0.18697	0.0:0.8265:0.0:0.1735	5.284	0.15000	834	0.38640	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	994.33	35	chr2	70984617	.	C	G	994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.052;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.178;SOR=0.613	GT:AD:DP:GQ:PL	0/1:32,36:68:99:1008,0,926	18	0	1	0
chr2	71149341	71149341	G	A	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon10:c.G1784A:p.R595Q	.	436	1051	32	3	0	38	0.017757	.	.	.	2811988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.020274678179	0.0022	0.00159744	0.0029	0.0002	0.0037	0.0001	0.0002	0.0039	0.0035	0.0023	0.0025873	400	154602	rs115361918	0.0020	0.0020	0.0018	0.0022	0.0426	0.0019	0.0019	0.0383	0.0366	0.0019	0.0033	0.0123	2.52e-05	0.0001	0.0426	0.0015	0.0042	0.0025	0.0024	0.0024	0.0024	0.0024	0.0054	0.0022	0.0021	0.0045	0.0041	0.0006	0	0.0054	0.0135	0	0	0.0238	0.0026	0.0085	0.0023	0.02	0.49613	D	0.087	0.40747	T	1.0	0.90584	D	0.977	0.73820	D	0.000011	0.62929	N	0.107790	0.999582	0.50061	D	2.755	0.80505	M	1.96	0.22270	T	-1.23	0.31170	N	0.23	0.25867	-1.1283	0.01865	T	0.086	0.33522	T	10	0.007098645	0.00161	T	0.020275	0.42842	T	0.177	0.44549	.	.	0.562875150688	0.55950	0.08509729497497982	0.08443	0.33767179458	0.35753	0.437681108713	0.30261	T	0.006553	0.05980	T	-0.418312	0.01753	T	-0.376703	0.36106	T	0.0518937704265915	0.05829	T	0.836316	0.50742	T	0.162351	0.36306	0.103670575	0.24880	0.162351	0.36306	0.103670575	0.24880	-2.975	0.09914	T	.	.	0.074	0.05103	B	.	.	4.242512	0.64330	24.7	0.99951904555326809	0.99951	0.92353	0.55515	D	AEFBI	0.614299	0.60167	D	0.399904150871398	0.61418	4.342557	0.385913687221664	0.60694	4.260069	0.685508698563358	0.22528	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.75	3.96	0.45097	3.885000	0.55896	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1346:0.0:0.8654:0.0	11.062	0.47169	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026741	0.020202	0.039402	0.038012	0.000000	0.025862	0.012346	0.000000	0.02632	831.33	35	chr2	71149341	.	G	A	831.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.7;DP=693;ExcessHet=0;FS=0.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.127;SOR=0.495	GT:AD:DP:GQ:PL	0/1:38,31:69:99:845,0,851	18	0	1	0
chr2	73452251	73452251	G	C	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.G5724C:p.Q1908H,ALMS1:NM_015120:exon8:c.G5724C:p.Q1908H	Alstrom syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	451652	not_provided|Alstrom_syndrome|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00792811468091	.	.	4.983e-05	0.0001	0.0002	0	0	4.505e-05	0	0	3.88e-05	6	154602	rs779739318	2.394e-05	2.394e-05	2.723e-05	2.063e-05	0.0007	1.739e-05	1.539e-05	0.0002	0.0001	5.975e-05	2.238e-05	0	0	0	0.0007	2.428e-05	1.656e-05	0	5.258e-05	5.254e-05	7.709e-05	2.692e-05	7.349e-05	2.558e-05	1.831e-05	2.846e-05	1.858e-05	4.828e-05	0	0	0	0	0	0.0032	7.349e-05	0	0	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	0.064457	0.21952	N	0.331135	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.255	0.28849	-1.0810	0.07156	T	0.095	0.35844	T	10	0.10016468	0.18224	T	0.007928	0.21033	T	.	.	.	.	0.259272394797	0.25527	0.34008037822311404	0.33921	.	.	0.307304024696	0.11499	T	0.160189	0.50393	T	-0.240916	0.15232	T	-0.402307	0.33116	T	0.18764542122584	0.19704	T	0.742826	0.36203	T	0.041562658	0.06142	0.06966087	0.14704	0.041562658	0.06142	0.06966087	0.14704	-7.021	0.54187	T	0.2178741884745096	0.29329	0.300	0.53017	B	.;.;.	.;.;.	2.118062	0.26958	17.30	0.99612158162997044	0.74873	0.09412	0.15173	N	AEFGBI	0.036443	0.04857	N	-0.144318066158557	0.35478	2.038267	-0.331522703112259	0.27087	1.500596	0.99643866173959	0.34743	0.706548	0.73137	0	0.633563	0.54681	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.13	1.37	0.21200	0.419000	0.20967	-2.522000	0.03652	0.676000	0.76740	0.003000	0.16062	0.000000	0.08366	0.977000	0.56843	0.3175:0.0:0.6825:0.0	6.091	0.19219	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	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1971.33	118	chr2	73452251	.	G	C	1971.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.232;DP=1180;ExcessHet=0;FS=10.602;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.29;SOR=0.339	GT:AD:DP:GQ:PL	0/1:92,77:169:99:1985,0,2556	18	0	1	0
chr2	84619759	84619759	A	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon24:c.A3647T:p.H1216L	.	434	1066	22	0	0	22	0.0102136	.	.	.	3221642	DNAH6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.726	0.287306943384	0.0002	0.000599042	0.0027	0	0	0	0	0.0010	0	0.0064	0.000414	64	154602	rs367551290	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	0	0.0002	0.0036	0	2.025e-05	0.0021	8.064e-05	0.0006	0.0059	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0	0.0032	0	0	0	8.82e-05	0.0005	0.0039	0.002	0.72154	D	.	.	.	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999906	0.50806	D	3.86	0.95841	H	-0.32	0.68181	T	-9.94	0.98767	D	0.754	0.75559	0.166	0.85333	D	0.518	0.81990	D	9	0.036367	0.01932	T	0.287307	0.90442	D	0.726	0.90369	.	.	0.777960513408	0.77591	0.865096577779505	0.86474	0.501682463928	0.48545	0.623549222946	0.56230	T	0.509166	0.82612	D	0.0423664	0.57355	T	0.290553	0.87709	D	0.288859407349234	0.24542	T	0.954105	0.82551	D	0.6581019	0.75797	0.7632945	0.86016	0.6581019	0.75798	0.7632945	0.86017	-15.236	0.96382	D	.	.	0.919	0.84161	P	.;.	.;.	4.329581	0.66332	24.9	0.97849179643389239	0.36385	0.98760	0.86500	D	AEFI	0.911771	0.87149	D	0.832401136101166	0.88086	9.447688	0.769030768999676	0.87573	9.268184	0.985059572233249	0.30820	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	9.212000	0.94233	11.148000	0.87267	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.717	0.62186	705	0.57330	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	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	0.002273	0.000000	0.006494	0.000000	0.000000	0.000000	0.005376	0.010870	0.02632	1144.33	33	chr2	84619759	.	A	T	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.171;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.78;SOR=0.645	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1158,0,1552	18	0	1	0
chr2	88027814	88027814	C	G	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.G750C:p.M250I,KRCC1:NM_016618:exon4:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00351585505232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0010	6.979e-06	2.825e-06	6.402e-06	2.04e-06	1.31e-06	2.66e-06	1.71e-06	0	0	0	0	0	0	6.402e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.454	0.12812	T	0.973	0.57599	D	0.801	0.58220	P	0.000010	0.62929	D	0.062069	0.787913	0.34349	D	2.32	0.66415	M	1.41	0.33412	T	-2.43	0.53258	N	0.2	0.22098	-0.9946	0.31405	T	0.115	0.40808	T	10	0.30311206	0.47844	T	0.003516	0.07969	T	0.155	0.40530	0.213	0.13210	0.429552544315	0.42571	0.008182404402236162	0.00783	0.725708912501	0.62471	0.720203101635	0.70076	T	0.108146	0.42094	T	0.028968	0.55587	T	-0.196166	0.55010	T	0.930124342441559	0.59463	D	0.79822	0.44280	T	0.2638534	0.49451	0.2377635	0.49082	0.2638534	0.49451	0.2377635	0.49081	-3.438	0.15573	T	.	.	0.622	0.69783	P	.	.	3.521594	0.49371	22.8	0.99389095936253258	0.62247	0.88569	0.48558	D	AEFDBI	0.317149	0.42122	N	0.487158083610881	0.66339	4.937415	0.543827579182642	0.70969	5.584056	0.999999972041284	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	1.847000	0.38939	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.971	0.89036	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	.	.	.	.	.	.	.	.	0.04167	124.74	59	chr2	88027814	.	C	G	124.74	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.823;DP=1296;ExcessHet=0.119;FS=247.26;InbreedingCoeff=-0.1955;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.759;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,14:86:59:0|1:88027814_C_G:59,0,2156:88027814	11	0	1	7
chr2	88027815	88027815	A	G	exonic	KRCC1	.	nonsynonymous SNV	KRCC1:NM_001304526:exon4:c.T749C:p.M250T,KRCC1:NM_016618:exon4:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00528123107148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0022	0.0004	0.0003	0.0009	0.0003	0.0003	0.0007	0.0006	4.07e-05	0	0.0003	0.0009	0.0001	0.0002	0.0004	0.0004	1.317e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.08	0.41913	T	0.999	0.77913	D	0.973	0.72923	D	0.000010	0.62929	D	0.062069	0.784912	0.34313	D	2.87	0.83286	M	1.42	0.33189	T	-3.83	0.72120	D	0.491	0.52475	-0.7288	0.59024	T	0.150	0.47752	T	10	0.41297394	0.56350	T	0.005281	0.13494	T	0.158	0.41098	0.227	0.15257	0.501874446873	0.49824	0.012083173853278386	0.01167	0.74405189753	0.63417	0.795596718788	0.81293	T	0.187443	0.54105	T	0.189621	0.72929	D	0.0346014	0.72576	D	0.983057200908661	0.74866	D	0.843416	0.52040	T	0.40812683	0.61291	0.47128996	0.69345	0.40812683	0.61292	0.47128996	0.69345	-6.531	0.50525	T	.	.	0.801	0.77334	P	.	.	4.234492	0.64146	24.7	0.99299857433100569	0.58577	0.89661	0.50269	D	AEFDBI	0.422194	0.48830	N	0.625202900801271	0.74771	6.189935	0.642215646163538	0.78030	6.795306	0.999999404383334	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	3.809000	0.55311	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.446	0.66929	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	.	.	.	.	.	.	.	.	0.03846	48.13	65	chr2	88027815	.	A	G	48.13	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-1.106;DP=1325;ExcessHet=0;FS=69.397;InbreedingCoeff=-0.1207;MLEAC=1;MLEAF=0.038;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.57;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,14:86:59:0|1:88027814_C_G:59,0,2156:88027814	12	0	1	6
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,18:222:99:0|1:94876587_C_A:142,0,8447:94876587	7	0	12	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,46:295:99:0|1:94876587_C_A:1182,0,10317:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,59:317:99:0|1:94876587_C_A:1649,0,10654:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,71:380:99:0|1:94876671_A_G:2051,0,12639:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,71:382:99:0|1:94876671_A_G:2045,0,12704:94876671	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:290,48:338:99:.:.:351,0,7573:.	3	0	16	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:184,50:234:99:980,0,5394	0	0	19	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:230,31:261:99:159,0,6793	5	0	14	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:217,120:337:99:2413,0,6173	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:215,88:303:99:1866,0,6312	0	0	19	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:218,70:288:99:1247,0,6443	0	0	19	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	4805.56	85	chr2	95859895	.	T	C	4805.56	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.153;DP=1801;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5223;MLEAC=13;MLEAF=0.342;MQ=58.06;MQRankSum=-0.944;QD=3.74;ReadPosRankSum=0.717;SOR=0.594	GT:AD:DP:GQ:PL	0/1:83,11:94:99:172,0,3343	6	0	13	0
chr2	95859954	95859954	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4901A:p.S1634N	.	975	535	5	7	0	19	0.0174472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0169	0.0155	0.0311	0.0479	0.0038	0.0313	0.0175	0.0027	0.0027296	422	154602	rs113412941	2.866e-05	0.0003	2.969e-05	2.76e-05	7.591e-05	2.16e-05	1.902e-05	3.222e-05	2.187e-05	0	0	0	0	0.0007	0	0	0	7.591e-05	3.955e-05	0.0002	5.153e-05	2.699e-05	0.0001	1.72e-05	1.132e-05	2.271e-05	9.11e-06	0	0	0.0001	0	0	0.0002	0	2.948e-05	0	0	0.288	0.15098	T	0.037	0.51737	D	0.618	0.39878	P	0.187	0.36167	B	.	.	.	.	1	0.08975	N	.	.	.	1.94	0.22678	T	-0.15	0.09297	N	0.085	0.06190	-1.0222	0.22998	T	0.027	0.11751	T	9	0.006032169	0.00135	T	.	.	.	0.013	0.01715	.	.	0.0762999501168	0.06990	0.0030737086632448584	0.00286	.	.	0.462406307459	0.33641	T	6.79E-4	0.00299	T	-0.348796	0.04804	T	-0.738798	0.03941	T	0.00345835183009096	0.00037	T	0.289271	0.05243	T	0.03892725	0.05279	0.047470983	0.06844	0.03892725	0.05279	0.047470983	0.06843	-4.896	0.35690	T	.	.	0.179	0.39081	B	.	.	0.950372	0.13263	9.766	0.70770463222112867	0.09405	0.00569	0.02581	N	AEFI	0.025482	0.01752	N	-0.895806730769085	0.10941	0.5254352	-1.0436911237332	0.08838	0.4365797	1.00806530901643E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	0.951	0.18703	0.029000	0.13555	-4.313000	0.02222	0.401000	0.20554	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6192:0.0:0.3808	4.087	0.09427	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	.	.	.	.	.	.	.	.	0.02632	36.35	104	chr2	95859954	.	C	T	36.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=2389;ExcessHet=0;FS=2.011;InbreedingCoeff=-0.028;MLEAC=1;MLEAF=0.026;MQ=59.14;MQRankSum=-5.614;QD=0.24;ReadPosRankSum=1.47;SOR=0.587	GT:AD:DP:GQ:PL	0/1:135,15:150:50:50,0,3798	18	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	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,36:159:99:0|1:95859969_A_AT:1139,0,5008:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,35:159:99:0|1:95859969_A_AT:1096,0,5033:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,35:160:99:0|1:95859969_A_AT:1093,0,5055:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:125,34:159:99:1053,0,3259	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,25:155:99:.:.:368,0,5213:.	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:122,30:152:99:.:.:892,0,4992:.	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,28:143:99:0|1:95860020_G_A:830,0,4684:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,28:141:99:0|1:95860020_G_A:836,0,4640:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:92,20:112:99:564,0,2502	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,31:179:99:0|1:95927222_G_GAT:856,0,6121:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,42:198:99:0|1:95927222_G_GAT:1294,0,6424:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,57:222:99:0|1:95927222_G_GAT:1897,0,6757:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,102:281:99:0|1:95927222_G_GAT:3744,0,7209:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,128:327:99:0|1:95927222_G_GAT:4755,0,7930:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,134:336:99:0|1:95927222_G_GAT:4877,0,8001:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,78:220:99:0|1:95929092_T_C:2781,0,5660:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,97:261:99:0|1:95929092_T_C:3579,0,6594:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,128:313:99:0|1:95929092_T_C:4818,0,7383:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,133:320:99:0|1:95929092_T_C:5022,0,7452:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,140:331:99:0|1:95929092_T_C:5245,0,7578:95929092	0	0	19	0
chr2	96269282	96269282	G	A	exonic	CIAO1	.	nonsynonymous SNV	CIAO1:NM_004804:exon6:c.G706A:p.G236S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0224080713107	.	.	4.942e-05	0	0	0	0	4.495e-05	0	0.0002	3.88e-05	6	154602	rs776406200	2.736e-05	2.736e-05	2.042e-05	3.438e-05	0.0002	2.062e-05	1.816e-05	0.0001	8.645e-05	0	0	0	2.519e-05	0	0	2.158e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.13436	T	0.24	0.24406	T	0.029	0.19866	B	0.003	0.08700	B	0.428307	0.12781	N	0.766825	0.708062	0.33490	D	0.115	0.08564	N	-0.02	0.62918	T	-1.22	0.30964	N	0.26	0.29429	-0.9965	0.30892	T	0.087	0.33690	T	10	0.06930208	0.09925	T	0.022408	0.45296	T	0.042	0.11227	0.292	0.25400	0.347879110917	0.34393	0.24260482366837607	0.24174	0.353311194782	0.37138	0.378253251314	0.22007	T	0.069282	0.33671	T	-0.35083	0.04675	T	-0.46742	0.25795	T	0.0326656570895161	0.02415	T	0.690631	0.30012	T	0.026720745	0.01766	0.04408823	0.05634	0.026720745	0.01766	0.04408823	0.05634	-2.569	0.06271	T	.	.	0.072	0.04119	B	.	.	1.855662	0.23572	16.07	0.94868856477529262	0.25687	0.49111	0.28359	N	AEFBHCI	0.140691	0.26266	N	-0.934509696552784	0.10043	0.478063	-0.755880769677542	0.15578	0.8199872	0.999637992504603	0.41205	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.69	0.47	0.15957	0.813000	0.26883	2.524000	0.33135	-0.642000	0.04431	0.673000	0.28375	0.996000	0.32793	0.388000	0.26514	0.4581:0.0:0.5419:0.0	9.421	0.37718	291	0.88420	WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1049.33	34	chr2	96269282	.	G	A	1049.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.51;DP=718;ExcessHet=0;FS=0.8;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.057;SOR=0.544	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1063,0,1018	18	0	1	0
chr2	96326786	96326786	T	C	exonic	ITPRIPL1	.	nonsynonymous SNV	ITPRIPL1:NM_178495:exon1:c.T179C:p.M60T,ITPRIPL1:NM_001163523:exon2:c.T131C:p.M44T,ITPRIPL1:NM_001163524:exon2:c.T131C:p.M44T,ITPRIPL1:NM_001324490:exon2:c.T131C:p.M44T,ITPRIPL1:NM_001008949:exon3:c.T155C:p.M52T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0192640925957	.	.	3.295e-05	0	0	0	0	1.498e-05	0	0.0002	2.59e-05	4	154602	rs777775962	1.3e-05	1.3e-05	6.806e-06	1.925e-05	0.0001	8.31e-06	6.7e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	6.295e-06	1.656e-05	0.0001	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	0.0	0.92824	D	0.089	0.27697	B	0.056	0.32230	B	0.001342	0.39310	N	0.000000	0.916534	0.27391	N	0.895	0.22405	L	1.74	0.26737	T	-5.26	0.84105	D	0.715	0.71765	-1.0505	0.14258	T	0.038	0.16505	T	10	0.10219425	0.18717	T	0.019264	0.41574	T	0.158	0.41098	0.316	0.29258	0.262175524916	0.25828	0.4323505643769283	0.43152	0.67402453772	0.59623	0.617793083191	0.55417	T	0.031095	0.21883	T	-0.236493	0.15800	T	-0.317803	0.42815	T	0.247297951146496	0.22752	T	0.682432	0.29103	T	0.13141795	0.30633	0.1397072	0.33324	0.13141795	0.30633	0.1397072	0.33324	-3.745	0.20461	T	.	.	0.924	0.84525	P	.;.;.;.	.;.;.;.	3.652690	0.51852	23.2	0.96886196495114829	0.31481	0.86868	0.46245	D	AEFDBI	0.293256	0.40393	N	-0.352032983159133	0.27197	1.490274	-0.211166261798151	0.31132	1.759145	0.999961460305204	0.48965	0.732398	0.92422	0	0.587265	0.34161	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.12	3.93	0.44666	1.148000	0.31226	7.881000	0.72509	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.2999:0.0:0.0:0.7001	8.843	0.34310	289	0.88525	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1297.33	44	chr2	96326786	.	T	C	1297.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.82;DP=866;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.225;SOR=0.778	GT:AD:DP:GQ:PL	0/1:82,60:142:99:1311,0,2193	18	0	1	0
chr2	96359059	96359059	C	T	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon9:c.C815T:p.S272F,NCAPH:NM_001281710:exon10:c.C1190T:p.S397F,NCAPH:NM_001281711:exon10:c.C1151T:p.S384F,NCAPH:NM_015341:exon10:c.C1223T:p.S408F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0266646676479	.	.	8.244e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs781184446	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	1.872e-05	0	0	0	0	6.575e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.446e-05	0	0	0	0	0.039	0.42487	D	0.012	0.64786	D	0.845	0.51142	P	0.715	0.54683	P	0.001997	0.37503	N	0.299544	0.917273	0.36575	D	2.565	0.75005	M	0.9	0.45248	T	-2.67	0.57110	D	0.353	0.39457	-0.7648	0.57143	T	0.151	0.47839	T	10	0.4097519	0.56142	T	0.026665	0.49557	D	0.187	0.46274	0.527	0.63263	0.657716601585	0.65485	0.34899482327535075	0.34813	0.595800269434	0.54840	0.285329282284	0.08246	T	0.080629	0.36409	T	-0.135994	0.30531	T	-0.350257	0.39176	T	0.919990241527557	0.57895	D	0.836716	0.50835	T	0.14739774	0.33698	0.1363384	0.32618	0.14739774	0.33698	0.1363384	0.32617	-6.218	0.49400	T	0.3861195729084485	0.47990	0.120	0.28290	B	.;.;.;.	.;.;.;.	4.043689	0.59881	24.2	0.99751065264815963	0.84228	0.95705	0.65805	D	AEFBI	0.649663	0.62405	D	0.399603270905702	0.61400	4.340679	0.404529604045867	0.61848	4.39063	0.999932102773509	0.46732	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.82	5.82	0.92740	5.282000	0.65421	4.874000	0.45597	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.1664:0.8335:0.0:0.0	12.524	0.55422	287	0.88635	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1238.33	33	chr2	96359059	.	C	T	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.819;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.374;SOR=0.656	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1252,0,1383	18	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,15:186:99:0|1:97185336_GC_G:115,0,7094:97185336	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,15:188:99:0|1:97185336_GC_G:109,0,7219:97185336	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,15:189:99:0|1:97185336_GC_G:106,0,7261:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,15:193:94:0|1:97185336_GC_G:94,0,7409:97185336	2	0	17	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1112.14	36	chr2	97243965	.	C	A	1112.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.5;DP=1690;ExcessHet=4.0268;FS=20.316;InbreedingCoeff=-0.2647;MLEAC=8;MLEAF=0.211;MQ=38.8;MQRankSum=-3.599;QD=0.97;ReadPosRankSum=-1.119;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,13:160:99:0|1:97243955_G_A:103,0,6093:97243955	11	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,20:170:99:0|1:97243981_C_T:388,0,6218:97243981	8	0	11	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,21:161:99:0|1:97243981_C_T:460,0,5795:97243981	7	0	12	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,100:238:99:0|1:97513219_T_C:3784,0,5456:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,106:251:99:0|1:97513219_T_C:4005,0,5759:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,127:285:99:0|1:97513244_G_T:4857,0,6124:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,138:297:99:0|1:97513244_G_T:5286,0,6241:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,138:296:99:0|1:97513244_G_T:5289,0,6219:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,149:311:99:0|1:97513268_C_T:5728,0,6313:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,150:312:99:0|1:97513268_C_T:5770,0,6310:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:164,150:314:99:0|1:97513268_C_T:5769,0,6353:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,148:310:99:0|1:97513268_C_T:5657,0,6271:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:139,44:183:99:737,0,3565	0	0	19	0
chr2	102708361	102708361	G	A	exonic	SLC9A2	.	nonsynonymous SNV	SLC9A2:NM_003048:exon12:c.G2311A:p.D771N	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0200662400056	0.0039	0.00159744	0.0043	0.0007	0.0054	0	0.0011	0.0063	0.0033	0.0012	0.0042561	658	154602	rs56156264	0.0049	0.0049	0.0050	0.0049	0.0057	0.0048	0.0048	0.0054	0.0053	0.0005	0.0057	0.0159	2.519e-05	0.0011	0.0024	0.0055	0.0039	0.0013	0.0041	0.0041	0.0043	0.0039	0.0074	0.0038	0.0037	0.0063	0.0059	0.0009	0.0022	0.0074	0.0144	0.0002	0.0005	0	0.0058	0.0052	0.0017	0.1	0.30515	T	0.536	0.09897	T	0.003	0.11197	B	0.004	0.10090	B	0.509189	0.05137	N	1.288820	0.993338	0.23730	N	0.345	0.11182	N	0.42	0.56937	T	-0.75	0.21003	N	0.024	0.00445	-1.0303	0.20357	T	0.067	0.27468	T	10	0.0032167137	0.00055	T	0.020066	0.42586	T	0.111	0.31313	.	.	0.477762074677	0.47404	0.1536255016202586	0.15284	0.440040231654	0.44017	0.316749334335	0.12928	T	0.119256	0.44065	T	-0.606407	0.00133	T	-0.641503	0.09559	T	0.00544505847270863	0.00059	T	0.754824	0.37774	T	0.044928093	0.07265	0.04185151	0.04850	0.044928093	0.07265	0.04185151	0.04849	-4.474	0.30547	T	.	.	0.070	0.03407	B	.	.	3.017558	0.40373	21.2	0.97363986279610959	0.33588	0.76087	0.37291	D	AEFDBI	0.128573	0.24640	N	-0.57390251186758	0.19740	1.035514	-0.400864552989621	0.24971	1.370561	0.999840763089124	0.43971	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.77	3.97	0.45241	2.937000	0.48672	5.178000	0.47853	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.1702:0.1742:0.6556:0.0	5.752	0.17422	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	2507.33	43	chr2	102708361	.	G	A	2507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=866;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.04;SOR=0.64	GT:AD:DP:GQ:PL	0/1:104,95:199:99:2521,0,2722	18	0	1	0
chr2	107880082	107880082	G	A	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon21:c.G5039A:p.S1680N	.	561	948	13	0	0	13	0.00680985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	0.0116	0.0101837	0.0063	0.0234	0.0043	0	0	0.0056	0.0044	0.0058	0.0059831	925	154602	rs149740184	0.0039	0.0039	0.0038	0.0039	0.0232	0.0038	0.0037	0.0218	0.0213	0.0232	0.0055	0.0600	0	3.744e-05	0.0123	0.0019	0.0083	0.0043	0.0096	0.0098	0.0096	0.0096	0.0217	0.0092	0.0090	0.0205	0.0201	0.0217	0.0647	0.0071	0.0586	0	0	0.0136	0.0025	0.0057	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999978	0.18612	N	-1.795	0.00292	N	1.3	0.35590	T	-0.01	0.07155	N	0.227	0.25499	-1.0051	0.28427	T	0.001	0.00287	T	9	0.0024957657	0.00038	T	.	.	.	0.110	0.31079	.	.	0.0401082797425	0.02173	0.10043015754090968	0.09974	.	.	0.623435258865	0.56214	T	0.004012	0.03423	T	-0.667237	0.00057	T	-0.71496	0.05043	T	0.0042505707572721	0.00045	T	0.434357	0.11884	T	0.0537452	0.10214	0.08793742	0.20471	0.0537452	0.10214	0.08793742	0.20471	-0.855	0.00852	T	.	.	0.130	0.27762	B	.	.	1.413550	0.18294	13.66	0.52742819887358072	0.04805	0.01469	0.04901	N	AEFI	0.029382	0.02763	N	-1.2867235420239	0.03834	0.1720009	-1.13356713013068	0.07066	0.3423706	8.78563616993132E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.854	0.854	0.18144	5.145000	0.64681	9.211000	0.79238	-0.526000	0.04970	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.8127:0.0:0.1873:0.0	5.129	0.14233	960	0.08626	GCC2, Rab 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	0.014371	0.021739	0.024862	0.022124	0.000000	0.008929	0.003731	0.000000	0.02632	2355.33	41	chr2	107880082	.	G	A	2355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=1144;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.9;MQRankSum=-2.3;QD=13.46;ReadPosRankSum=-0.148;SOR=0.786	GT:AD:DP:GQ:PL	0/1:86,89:175:99:2369,0,2198	18	0	1	0
chr2	127764615	127764615	T	C	exonic	WDR33	.	nonsynonymous SNV	WDR33:NM_001006622:exon6:c.A839G:p.Y280C	.	436	1055	29	2	0	33	0.015399	.	.	.	4020734	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.098	.	0.0051	0.00299521	0.0065	0.0015	0.0140	0	0.0017	0.0102	0.0037	0.0045	0.0031047	480	154602	rs62621432	0.0066	0.0065	0.0066	0.0066	0.0149	0.0065	0.0065	0.0124	0.0114	0.0015	0.0059	0.0047	0	0.0022	0.0149	0.0074	0.0063	0.0039	0.0051	0.0051	0.0054	0.0047	0.0076	0.0048	0.0047	0.0071	0.0069	0.0012	0	0.0076	0.0087	0	0.0011	0.0238	0.0076	0.0076	0.0046	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	.	.	.	.	1	0.81001	D	.	.	.	1.06	0.39781	T	-1.38	0.34198	N	0.599	0.61764	-0.6292	0.63605	T	0.205	0.56293	T	8	0.00841099	0.00191	T	.	.	.	0.098	0.28162	.	.	0.165150595986	0.16160	.	.	.	.	.	.	.	.	.	.	-0.391012	0.02650	T	-0.328747	0.41609	T	0.0715279357274032	0.08864	T	0.450355	0.12714	T	.	.	.	.	.	.	.	.	-3.362	0.14550	T	.	.	0.108	0.20469	B	.	.	2.362505	0.30306	18.40	0.99746070043336688	0.83852	0.94541	0.61500	D	AEFBI	0.626769	0.60947	D	0.636090970056344	0.75470	6.311802	0.640669472655033	0.77917	6.772694	0.999993581770831	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	3.203000	0.50777	2.942000	0.35671	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.549	0.67639	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010237	0.020202	0.010324	0.012579	0.000000	0.000000	0.013072	0.012097	0.02632	1441.33	33	chr2	127764615	.	T	C	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=747;ExcessHet=0;FS=3.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.968;SOR=0.506	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1455,0,2032	18	0	1	0
chr2	127955235	127955235	T	C	exonic	SAP130	.	nonsynonymous SNV	SAP130:NM_001330300:exon15:c.A2065G:p.T689A,SAP130:NM_001330303:exon15:c.A2068G:p.T690A,SAP130:NM_024545:exon15:c.A2146G:p.T716A,SAP130:NM_001145928:exon16:c.A2251G:p.T751A,SAP130:NM_001330299:exon16:c.A2170G:p.T724A,SAP130:NM_001330301:exon16:c.A2173G:p.T725A,SAP130:NM_001330302:exon16:c.A2170G:p.T724A	.	432	1089	0	1	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00193474131365	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1468030444	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.297	0.30729	T	0.0	0.02946	B	0.001	0.04355	B	0.018908	0.27374	N	0.398688	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.7	0.29933	N	0.29	0.32812	-1.0370	0.18233	T	0.039	0.16892	T	9	0.060213715	0.07362	T	0.001935	0.03430	T	0.030	0.07022	0.143	0.04650	0.123314135267	0.11883	0.16701787394892922	0.16621	0.433014905397	0.43471	0.399066090584	0.24938	T	0.029289	0.21023	T	-0.219086	0.18118	T	-0.552479	0.17089	T	0.053229171132137	0.06059	T	0.645735	0.25721	T	0.043922525	0.06931	0.033848323	0.02348	0.043922525	0.06930	0.033848323	0.02348	-3.176	0.12190	T	.	.	0.061	0.01834	B	.;.;.;.	.;.;.;.	2.303816	0.29484	18.14	0.98181244351295427	0.38950	0.70837	0.34757	D	AEFBI	0.136342	0.25698	N	-0.674499282638428	0.16750	0.8561534	-0.504378832636932	0.22034	1.194804	0.00276477703658912	0.09691	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.62	2.21	0.27042	1.635000	0.36747	2.826000	0.34993	-0.130000	0.13190	0.984000	0.35821	1.000000	0.68203	0.995000	0.73285	0.2645:0.1656:0.0:0.5698	3.518	0.07291	553	0.71930	.;Histone deacetylase complex subunit SAP130, C-terminal domain;Histone deacetylase complex subunit SAP130, C-terminal domain;Histone deacetylase complex subunit SAP130, 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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1898.33	33	chr2	127955235	.	T	C	1898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.836;DP=763;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=1.48;SOR=0.649	GT:AD:DP:GQ:PL	0/1:60,69:129:99:1912,0,1766	18	0	1	0
chr2	135788521	135788521	C	T	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon17:c.G5587A:p.V1863M	Lactase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00424205514348	7.7e-05	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs371505824	6.853e-06	6.841e-06	6.818e-06	6.887e-06	0.0002	3.47e-06	2.53e-06	2.62e-06	1.68e-06	2.993e-05	0	0	0	0	0.0002	6.299e-06	1.661e-05	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.151	0.24564	T	0.194	0.28120	T	0.029	0.19866	B	0.009	0.14300	B	0.168795	0.03094	N	1.586460	1	0.08975	N	0.91	0.23283	L	1.62	0.28189	T	-0.36	0.13035	N	0.027	0.00571	-1.0366	0.18357	T	0.051	0.21883	T	10	0.035773635	0.01842	T	0.004242	0.10247	T	0.002	0.00045	.	.	0.139678290688	0.13603	0.35420725621695415	0.35334	0.625912473599	0.56749	0.298323482275	0.10152	T	0.266086	0.63801	T	-0.455177	0.01052	T	-0.794753	0.02036	T	0.0445708658074781	0.04524	T	0.427157	0.11500	T	0.02323899	0.01046	0.032245964	0.01930	0.02323899	0.01046	0.032245964	0.01930	-5.406	0.40977	T	.	.	0.081	0.08368	B	.	.	-1.286605	0.00450	0.009	0.89223413701123944	0.18613	0.01181	0.04234	N	AEFBI	0.053713	0.09701	N	-1.33298061276468	0.03305	0.1473895	-1.38346414868569	0.03427	0.1598654	0.999747307043614	0.42466	0.498214	0.20090	0	0.446627	0.06534	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.69	-2.59	0.05847	-3.075000	0.00679	-4.508000	0.02121	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.109:0.5886:0.0:0.3024	7.525	0.26818	244	0.90442	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2766.33	167	chr2	135788521	.	C	T	2766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.52;DP=1879;ExcessHet=0;FS=5.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.308;SOR=0.344	GT:AD:DP:GQ:PL	0/1:69,93:162:99:2780,0,1602	18	0	1	0
chr2	135866246	135866248	ACT	-	exonic	MCM6	.	nonframeshift deletion	MCM6:NM_005915:exon6:c.811_813del:p.S271del	Lactase persistence/nonpersistence, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.25e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs774158529	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2577.29	35	chr2	135866245	.	CACT	C	2577.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.197;DP=819;ExcessHet=0;FS=2.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.478;SOR=0.93	GT:AD:DP:GQ:PL	0/1:118,71:189:99:2591,0,4664	18	0	1	0
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1057.71	33	chr2	151680729	.	C	T	1057.71	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-4.359;DP=1767;ExcessHet=2.0135;FS=112.907;InbreedingCoeff=-0.2011;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.16;SOR=10.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,28:144:99:0|1:151680729_C_T:218,0,3758:151680729	12	0	6	1
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.1053	3819.41	41	chr2	157799450	.	G	C	3819.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.235;DP=846;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-1.396;SOR=0.665	GT:AD:DP:GQ:PL	0/1:33,33:66:99:769,0,855	16	1	2	0
chr2	158176648	158176648	G	A	exonic	CCDC148	.	nonsynonymous SNV	CCDC148:NM_001301684:exon11:c.C1064T:p.A355V,CCDC148:NM_138803:exon13:c.C1502T:p.A501V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0236221424967	0.0005	0.000399361	0.0001	0.0009	0.0003	0	0	0	0	0	9.06e-05	14	154602	rs143639142	4.865e-05	4.925e-05	5.59e-05	4.132e-05	0.0018	3.932e-05	3.61e-05	0.0014	0.0013	0.0018	0.0001	0	0	0	0	0	4.98e-05	2.323e-05	0.0003	0.0003	0.0004	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0	0	0	0	0	1.471e-05	0	0	0.591	0.08335	T	0.149	0.32891	T	0.087	0.24971	B	0.137	0.33328	B	.	.	.	.	0.965754	0.38487	D	1.63	0.41750	L	1.86	0.24285	T	-0.45	0.14782	N	0.311	0.36884	-1.0873	0.05995	T	0.034	0.14683	T	9	0.028595686	0.00990	T	0.023622	0.46588	T	0.138	0.37187	.	.	0.272205846399	0.26826	0.25754285690520845	0.25668	0.0651090913709	0.07273	0.482539623976	0.36407	T	0.020892	0.16365	T	-0.393588	0.02550	T	-0.388579	0.34719	T	0.0935564566175851	0.11633	T	0.79652	0.44001	T	0.05095913	0.09288	0.10420765	0.25022	0.05095913	0.09287	0.10420765	0.25021	-5.403	0.40948	T	.	.	0.134	0.29060	B	.;.	.;.	4.062945	0.60307	24.2	0.98212756978089988	0.39228	0.92064	0.54865	D	AEFI	0.626877	0.60954	D	-0.294283255990514	0.29369	1.628008	-0.0559161082975334	0.37235	2.177434	0.787857553132395	0.23962	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.82	4.94	0.64645	5.478000	0.66531	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0763:0.0:0.9237:0.0	13.329	0.59912	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	836.33	33	chr2	158176648	.	G	A	836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.183;DP=702;ExcessHet=0;FS=3.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.706;SOR=1.058	GT:AD:DP:GQ:PL	0/1:53,32:85:99:850,0,1483	18	0	1	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N,BAZ2B:NM_001329857:exon28:c.G4346A:p.S1449N,BAZ2B:NM_001329858:exon28:c.G4433A:p.S1478N,BAZ2B:NM_013450:exon28:c.G4508A:p.S1503N	.	431	977	111	3	0	117	0.0564944	.	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016616	0.000000	0.016304	0.014620	0.000000	0.008621	0.009146	0.049242	0.02632	3038.33	36	chr2	159350063	.	C	T	3038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.485;DP=868;ExcessHet=0;FS=4.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=1.18;SOR=0.464	GT:AD:DP:GQ:PL	0/1:120,116:236:99:3052,0,3222	18	0	1	0
chr2	176130417	176130417	-	GCGGCG	exonic	HOXD8	.	nonframeshift insertion	HOXD8:NM_001199746:exon1:c.51_52insGCGGCG:p.A23_G24insAA,HOXD8:NM_019558:exon1:c.51_52insGCGGCG:p.A23_G24insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0016	0.0057	0	0	.	0.0004	0	0.0021	0.00011	17	154602	rs560225489	0.0005	0.0005	0.0004	0.0005	0.0096	0.0004	0.0004	0.0086	0.0083	0.0096	0.0015	0.0018	9.975e-05	0	0.0006	0.0001	0.0014	0.0008	0.0032	0.0032	0.0035	0.0029	0.0100	0.0030	0.0029	0.0092	0.0089	0.0100	0	0.0025	0.0026	0	0	0	0.0002	0.0024	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	890.29	38	chr2	176130417	.	T	TGCGGCG	890.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.636;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=0.6;SOR=0.754	GT:AD:DP:GQ:PL	0/1:19,24:43:99:904,0,643	18	0	1	0
chr2	178539675	178539675	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon180:c.A71195G:p.N23732S,TTN:NM_133432:exon181:c.A71570G:p.N23857S,TTN:NM_133437:exon181:c.A71771G:p.N23924S,TTN:NM_133378:exon301:c.A90686G:p.N30229S,TTN:NM_001256850:exon302:c.A93467G:p.N31156S,TTN:NM_001267550:exon352:c.A98390G:p.N32797S	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	1498	22	2	0	26	0.00860357	.	.	.	56764	Long_QT_syndrome|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiomyopathy|not_provided|not_specified|Cardiovascular_phenotype	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.0058	0.00399361	0.0044	0.0006	0.0042	0	0.0009	0.0067	0.0033	0.0009	0.0047412	733	154602	rs149001703	0.0061	0.0061	0.0062	0.0059	0.0108	0.0059	0.0059	0.0086	0.0078	0.0012	0.0063	0.0011	7.558e-05	0.0009	0.0108	0.0072	0.0055	0.0011	0.0050	0.0050	0.0049	0.0050	0.0141	0.0047	0.0046	0.0125	0.0119	0.0012	0.0033	0.0141	0.0006	0	0.0003	0.0034	0.0068	0.0099	0.0004	0.272	0.15930	T	.	.	.	0.044	0.21686	B	0.036	0.22909	B	.	.	.	.	0.925767	0.36814	D	-1.165	0.00881	N	1.31	0.35405	T	-2.26	0.50502	N	0.372	0.53620	-0.9416	0.42362	T	0.024	0.10239	T	9	0.004747838	0.00100	T	.	.	.	0.176	0.44373	.	.	0.144782658237	0.14088	.	.	0.0737544068941	0.08270	0.333610296249	0.15479	T	.	.	.	-0.565098	0.00237	T	-0.575105	0.14984	T	0.0358890173563926	0.02962	T	0.910809	0.68393	D	.	.	.	.	.	.	.	.	0.177	0.00292	T	.	.	0.064	0.01762	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.951309	0.24787	16.52	0.94437002722538843	0.24857	0.97441	0.74770	D	AEFBCI	0.707181	0.66200	D	-0.232602821107118	0.31803	1.786997	0.0708973245925936	0.43093	2.618261	0.99999999989433	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	4.865000	0.62695	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:0.0:1.0	16.822	0.85699	423	0.81269	.;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008056	0.015152	0.008152	0.011696	0.000000	0.000000	0.006098	0.000000	0.05263	6389.83	35	chr2	178539675	.	T	C	6389.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.3;DP=1878;ExcessHet=0.119;FS=1.732;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=2.53;SOR=0.788	GT:AD:DP:GQ:PL	0/1:169,163:332:99:4306,0,4419	17	0	2	0
chr2	178740653	178740653	T	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.A11491T:p.I3831F,TTN:NM_001256850:exon46:c.A11629T:p.I3877F,TTN:NM_133432:exon46:c.A11866T:p.I3956F,TTN:NM_133437:exon46:c.A12067T:p.I4023F,TTN:NM_001267550:exon48:c.A12580T:p.I4194F	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	1516	5	1	0	7	0.00230339	.	.	.	56990	Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy_2|Tibial_muscular_dystrophy|not_specified|not_provided|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Cardiovascular_phenotype|Cardiomyopathy|Dilated_cardiomyopathy_1G	MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.087	.	0.0050	0.00299521	0.0055	0.0009	0.0043	0	0.0219	0.0057	0.0078	0.0042	0.0052975	819	154602	rs34618570	0.0069	0.0069	0.0071	0.0067	0.0070	0.0068	0.0067	0.0069	0.0068	0.0007	0.0048	0.0006	2.521e-05	0.0229	0.0009	0.0070	0.0067	0.0043	0.0060	0.0061	0.0047	0.0075	0.0064	0.0057	0.0056	0.0059	0.0057	0.0013	0	0.0058	0.0003	0	0.0290	0	0.0064	0.0038	0.0050	0.116	0.34800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.610667	0.32618	D	.	.	.	0.23	0.62183	T	-1.47	0.36980	N	0.119	0.10911	-1.0001	0.29888	T	0.084	0.32872	T	9	0.0029030144	0.00047	T	.	.	.	0.087	0.25287	.	.	0.442775082573	0.43898	.	.	0.135862692089	0.15322	0.299296498299	0.10295	T	.	.	.	-0.524741	0.00413	T	-0.520133	0.20280	T	0.00357285521115748	0.00038	T	0.728227	0.36333	T	.	.	.	.	.	.	.	.	-4.504	0.32422	T	.	.	0.138	0.30022	B	.;.;.;.;.;.	.;.;.;.;.;.	0.909426	0.12836	9.351	0.61580015160357771	0.06744	0.85559	0.44704	D	AEBI	0.569282	0.57413	D	-0.828822805991774	0.12577	0.6139307	-0.773280992937793	0.15151	0.7954179	0.990516968018341	0.32178	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	2.68	0.30839	2.312000	0.43386	.	.	-0.278000	0.06506	0.812000	0.29879	0.005000	0.19230	0.267000	0.23694	0.0:0.2125:0.0:0.7875	8.187	0.30506	341	0.85936	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	3005.33	34	chr2	178740653	.	T	A	3005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=966;ExcessHet=0;FS=2.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.53;SOR=0.548	GT:AD:DP:GQ:PL	0/1:102,110:212:99:3019,0,2639	18	0	1	0
chr2	178766401	178766401	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon40:c.C9545T:p.S3182F,TTN:NM_133432:exon40:c.C9545T:p.S3182F,TTN:NM_133437:exon40:c.C9545T:p.S3182F,TTN:NM_001256850:exon41:c.C9683T:p.S3228F,TTN:NM_001267550:exon41:c.C9683T:p.S3228F,TTN:NM_133378:exon41:c.C9683T:p.S3228F,TTN:NM_133379:exon41:c.C9683T:p.S3228F	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	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0475012508315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.001	0.83351	D	0.988	0.68779	D	0.81	0.68059	P	.	.	.	.	0.963057	0.38326	D	.	.	.	3.22	0.07024	T	-4.11	0.80085	D	0.309	0.70527	-1.1209	0.02276	T	0.071	0.28806	T	9	0.29437706	0.47010	T	0.047501	0.62952	D	0.196	0.47777	0.603	0.73466	0.33085137897	0.32697	.	.	0.38453098163	0.39751	0.653679609299	0.60509	T	.	.	.	0.0324084	0.56044	T	-0.191224	0.55474	T	0.625253500037995	0.37422	D	0.957104	0.87368	D	.	.	.	.	.	.	.	.	-7.961	0.60803	D	.	.	0.451	0.62276	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.029868	0.59586	24.1	0.97240958490695262	0.32996	0.92178	0.55119	D	AEFGBI	0.774195	0.70797	D	0.692413797684951	0.79136	7.014239	0.697101974735015	0.82156	7.69839	0.999999997839338	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	4.692000	0.61431	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.648	0.95787	339	0.86048	.;.;Immunoglobulin subtype;Immunoglobulin subtype;.;Immunoglobulin subtype;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	.	.	.	.	.	.	.	.	0.02632	1858.33	34	chr2	178766401	.	G	A	1858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=793;ExcessHet=0;FS=2.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.102;SOR=0.493	GT:AD:DP:GQ:PL	0/1:70,68:138:99:1872,0,1831	18	0	1	0
chr2	181535469	181535471	AAG	-	exonic	ITGA4	.	nonframeshift deletion	ITGA4:NM_000885:exon28:c.3041_3043del:p.E1016del	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0036	0.0006	0	0.0001	0	9.021e-05	0.0045	0.0257	0.0001537	4	26028	rs537103343	0.0015	0.0015	0.0009	0.0021	0.0225	0.0014	0.0014	0.0217	0.0213	0.0002	0	0	2.532e-05	1.877e-05	0	0.0001	0.0016	0.0225	0.0008	0.0008	0.0005	0.0011	0.0234	0.0007	0.0007	0.0199	0.0186	0.0002	0	0	0	0	0	0	2.944e-05	0	0.0234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005133	0.000000	0.000000	0.008824	0.000000	0.000000	0.000000	0.022727	0.02632	2034.29	34	chr2	181535468	.	CAAG	C	2034.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.517;DP=739;ExcessHet=0;FS=10.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.16;ReadPosRankSum=-1.352;SOR=1.058	GT:AD:DP:GQ:PL	0/1:59,53:112:99:2048,0,2297	18	0	1	0
chr2	181909915	181909915	G	A	exonic	ITPRID2	.	nonsynonymous SNV	ITPRID2:NM_001287504:exon8:c.G971A:p.G324E,ITPRID2:NM_001130445:exon9:c.G1430A:p.G477E,ITPRID2:NM_001287503:exon9:c.G1430A:p.G477E,ITPRID2:NM_006751:exon9:c.G1430A:p.G477E	.	438	1083	1	0	0	1	0.000461467	.	.	.	3264714	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0128927682625	.	.	2.507e-05	0	0	0	0	4.551e-05	0	0	2.59e-05	4	154602	rs774253208	1.232e-05	1.231e-05	1.226e-05	1.238e-05	0.0003	7.7e-06	6.35e-06	6.098e-05	2.523e-05	2.99e-05	0	0	0	0	0.0003	1.17e-05	3.315e-05	0	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	1.471e-05	0	0.0002	0.051	0.39575	T	0.207	0.28764	T	1.0	0.90584	D	1.0	0.97372	D	0.005501	0.32753	N	0.315132	0.998194	0.44615	D	.	.	.	2.69	0.14907	T	0.68	0.02297	N	0.417	0.46274	-1.0334	0.19363	T	0.104	0.38169	T	10	0.33399087	0.50580	T	0.012893	0.31852	T	0.265	0.57870	0.156	0.05964	0.610517158426	0.60738	0.19022676294235558	0.18940	0.0664007650245	0.07407	0.662418723106	0.61756	T	0.055659	0.30070	T	-0.130903	0.31349	T	-0.362164	0.37803	T	0.593658924102783	0.36150	D	0.949205	0.80472	D	0.16293472	0.36401	0.17155227	0.39346	0.16293472	0.36401	0.17155227	0.39345	-0.791	0.00864	T	.	.	0.337	0.69665	B	.;.;.	.;.;.	3.771079	0.54161	23.5	0.99791675974391292	0.87750	0.88992	0.49197	D	AEFBCI	0.720470	0.67102	D	0.579193706544566	0.71876	5.718199	0.603721542566357	0.75210	6.270371	0.999999999920794	0.74766	0.67177	0.52595	0	0.633656	0.55848	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	5.98	5.98	0.97147	4.531000	0.60314	7.666000	0.64515	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	18.637	0.91337	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	653.33	34	chr2	181909915	.	G	A	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=655;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.011;SOR=0.77	GT:AD:DP:GQ:PL	0/1:20,25:45:99:667,0,462	18	0	1	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	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	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,28:63:99:.:.:190,0,194:.	6	0	11	2
chr2	190497538	190497538	G	A	exonic	MFSD6	.	nonsynonymous SNV	MFSD6:NM_001375993:exon5:c.G377A:p.R126H,MFSD6:NM_001375994:exon5:c.G377A:p.R126H,MFSD6:NM_001375987:exon6:c.G1991A:p.R664H,MFSD6:NM_001375989:exon6:c.G1991A:p.R664H,MFSD6:NM_001375990:exon6:c.G1991A:p.R664H,MFSD6:NM_001375986:exon7:c.G1991A:p.R664H,MFSD6:NM_001375988:exon7:c.G1991A:p.R664H,MFSD6:NM_001375992:exon7:c.G1991A:p.R664H,MFSD6:NM_017694:exon7:c.G1991A:p.R664H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00875229031036	0.0002	.	4.118e-05	0.0004	0	0	0	1.498e-05	0	0	3.23e-05	5	154602	rs139530596	4.788e-06	4.788e-06	4.084e-06	5.5e-06	7.557e-05	1.99e-06	1.28e-06	2.003e-05	1.055e-05	0	2.236e-05	0	7.557e-05	0	0	1.799e-06	0	1.159e-05	3.286e-05	3.284e-05	6.426e-05	0	9.658e-05	1.261e-05	7.98e-06	3.251e-05	1.916e-05	9.658e-05	0	0	0	0	0	0	1.47e-05	0	0	0.263	0.16412	T	0.373	0.39340	T	0.044	0.21686	B	0.016	0.17743	B	0.000276	0.46590	N	0.225478	0.913743	0.36481	D	1.1	0.28011	L	1.29	0.35775	T	0.52	0.02853	N	0.083	0.05929	-1.0422	0.16651	T	0.067	0.27674	T	10	0.04608679	0.03756	T	0.008752	0.23099	T	0.035	0.08770	.	.	0.393316636838	0.38940	0.32042140026467375	0.31955	0.517787163206	0.49640	0.461127310991	0.33465	T	0.00927	0.08447	T	-0.389647	0.02705	T	-0.501285	0.22215	T	0.0897717699408531	0.11191	T	0.868313	0.57032	D	0.06536952	0.13964	0.037606496	0.03450	0.06536952	0.13964	0.037606496	0.03450	-3.966	0.23293	T	.	.	0.093	0.13969	B	.;.;.	.;.;.	3.238184	0.44194	21.9	0.99494694944535067	0.67687	0.83098	0.42245	D	AEFDGCIJ	0.242458	0.36391	N	-0.166738083595112	0.34524	1.971671	0.0114463123074618	0.40245	2.398789	0.999945549085844	0.47345	0.740787	0.97801	0	0.724815	0.89359	0	0.767554	0.98243	0	0.668105	0.65232	0	.	.	5.74	4.85	0.62375	2.731000	0.47015	5.910000	0.51009	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.996000	0.76049	0.0737:0.0:0.7822:0.1442	9.175	0.36263	591	0.68823	.;.;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2761.33	33	chr2	190497538	.	G	A	2761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=835;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.375;SOR=0.847	GT:AD:DP:GQ:PL	0/1:102,106:208:99:2775,0,2346	18	0	1	0
chr2	195799307	195799307	C	T	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon55:c.G10342A:p.A3448T	.	431	1087	4	0	0	4	0.00183655	.	.	.	2840374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0229851458429	.	0.000399361	9.127e-05	0	0.0003	0	0	6e-05	0	0.0002	8.41e-05	13	154602	rs142989058	5.944e-05	6.293e-05	5.974e-05	5.913e-05	0.0012	4.917e-05	4.53e-05	0.0006	0.0004	9.343e-05	0.0002	0	0	0	0.0012	3.372e-05	0.0001	0.0003	5.913e-05	5.907e-05	5.143e-05	6.718e-05	0.0002	3.077e-05	2.21e-05	5.285e-05	2.835e-05	4.816e-05	0	0.0002	0	0	0	0	4.411e-05	0	0.0002	0.001	0.78490	D	.	.	.	0.987	0.61912	D	0.956	0.69739	D	0.000001	0.84330	D	0.053672	0.999995	0.58761	D	4.13	0.97473	H	2.72	0.11947	T	-3.82	0.71997	D	0.63	0.64393	-0.6340	0.63401	T	0.146	0.47092	T	10	0.59357417	0.66516	D	0.022985	0.45924	T	0.352	0.67326	.	.	0.490282680104	0.48660	0.7441125316055569	0.74357	0.217335507608	0.24254	0.73432469368	0.72138	T	0.239491	0.60762	T	-0.265258	0.12291	T	-0.304543	0.44242	T	0.837090611457825	0.49091	D	0.971503	0.89686	D	0.667124	0.76279	0.7820607	0.87156	0.667124	0.76280	0.7820607	0.87156	-10.089	0.74443	D	.	.	0.787	0.76709	P	.	.	4.024549	0.59468	24.1	0.99889093118862293	0.96359	0.99293	0.94067	D	AEFBI	0.816946	0.73855	D	0.792649395116494	0.85644	8.637776	0.683256056628089	0.81109	7.450252	0.814119489821282	0.24408	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	4.3	0.50540	5.206000	0.65026	3.855000	0.40108	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.1461:0.8539:0.0:0.0	14.723	0.68938	917	0.20147	Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	535.33	34	chr2	195799307	.	C	T	535.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=728;ExcessHet=0;FS=4.261;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.613;SOR=1.358	GT:AD:DP:GQ:PL	0/1:30,21:51:99:549,0,862	18	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,38:84:99:.:.:475,0,671:.	1	0	17	1
chr2	218394133	218394133	T	C	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon13:c.T1328C:p.V443A	.	414	1080	27	1	0	29	0.0132481	.	.	.	708030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0075	0.00698882	0.0085	0.0020	0.0058	0.0050	0.0049	0.0108	0.0099	0.0083	0.0085251	1318	154602	rs17215556	0.0094	0.0094	0.0093	0.0094	0.0106	0.0092	0.0092	0.0104	0.0104	0.0011	0.0058	0.0002	0.0032	0.0054	0.0090	0.0106	0.0076	0.0077	0.0071	0.0071	0.0076	0.0065	0.0110	0.0067	0.0066	0.0103	0.0101	0.0020	0	0.0088	0	0.0033	0.0037	0.0068	0.0110	0.0080	0.0068	0.121	0.27783	T	0.122	0.35710	T	0.008	0.14655	B	0.088	0.29688	B	0.003390	0.35013	N	0.198663	0.99986	0.50061	D	2.135	0.59519	M	-0.52	0.70717	T	-1.36	0.33798	N	0.658	0.66787	-0.7510	0.57883	T	0.196	0.55056	T	10	0.013764232	0.00291	T	.	.	.	0.172	0.43662	.	.	0.79161799632	0.78968	0.5413373954947179	0.54058	0.566308058926	0.52931	0.53330373764	0.43500	T	0.351936	0.71944	T	-0.397229	0.02414	T	-0.333974	0.41026	T	0.0189439310259744	0.00604	T	0.514149	0.16548	T	0.20398343	0.42493	0.18141866	0.41004	0.20398343	0.42493	0.18141866	0.41003	-6.288	0.48627	T	.	.	0.405	0.59854	A	.	.	3.573429	0.50344	22.9	0.98931554381899145	0.48750	0.91526	0.53715	D	AEFDGBHCI	0.792517	0.72079	D	-0.0848950177941772	0.38055	2.223034	0.0591517357268589	0.42515	2.572918	1.0	0.98316	0.616025	0.39624	0	0.574621	0.32753	0	0.607795	0.38427	0	0.604944	0.38103	0	.	.	4.86	4.86	0.62624	5.829000	0.69007	6.049000	0.53076	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	0.0:0.0:0.0:1.0	14.312	0.65975	936	0.14734	.	.	.	.	.	rs17215556	Likely benign	0	0	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	0.005539	0.005051	0.001359	0.002924	0.000000	0.000000	0.015244	0.003788	0.02632	1664.33	34	chr2	218394133	.	T	C	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.02;SOR=0.718	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1678,0,1686	18	0	1	0
chr2	227363746	227363746	T	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon4:c.A668C:p.K223T	.	433	1043	44	2	0	48	0.022493	.	.	.	1602291	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.120	.	0.0035	0.00539137	0.0076	0.0010	0.0016	0	0.0003	0.0062	0.0088	0.0281	0.0068757	1063	154602	rs137891000	0.0063	0.0063	0.0057	0.0070	0.0280	0.0062	0.0062	0.0271	0.0267	0.0011	0.0029	0.0329	2.519e-05	0.0006	0.0245	0.0046	0.0083	0.0280	0.0046	0.0046	0.0040	0.0052	0.0246	0.0043	0.0042	0.0210	0.0197	0.0007	0	0.0065	0.0354	0	0.0003	0.0136	0.0045	0.0057	0.0246	0.075	0.34444	T	0.032	0.53426	D	0.954	0.54400	P	0.812	0.58704	P	0.180637	0.17112	N	0.601254	1	0.08975	N	2.11	0.58565	M	1.53	0.30401	T	-2.04	0.46842	N	0.177	0.19055	-1.0304	0.20325	T	0.085	0.33269	T	10	0.0039727986	0.00077	T	.	.	.	0.120	0.33359	.	.	0.379881503574	0.37595	0.1257288560982809	0.12498	0.0415005756908	0.04460	0.282254904509	0.07809	T	0.007505	0.06912	T	-0.525279	0.00410	T	-0.506354	0.21690	T	0.0176095059824936	0.00494	T	0.588241	0.21547	T	0.086876065	0.20208	0.092055134	0.21675	0.08487282	0.19664	0.092055134	0.21674	-4.551	0.31550	T	.	.	0.184	0.39865	B	.	.	1.267217	0.16655	12.68	0.99460746838078851	0.65788	0.08078	0.14050	N	AEFBHCI	0.099348	0.20000	N	-0.236041235446511	0.31664	1.777796	-0.409087295706952	0.24730	1.355901	0.999957532355736	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.62	1.98	0.25351	-0.109000	0.10810	0.259000	0.16521	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.836000	0.39433	0.0:0.2599:0.0:0.7401	7.081	0.24410	925	0.17918	.	.	.	.	.	.	Likely benign	0	0	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	0.017623	0.010101	0.012228	0.032164	0.050000	0.000000	0.003049	0.030303	0.05263	2256.83	35	chr2	227363746	.	T	G	2256.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.366;DP=829;ExcessHet=0.119;FS=1.007;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.397;SOR=0.615	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1231,0,1698	17	0	2	0
chr2	232549659	232549659	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G224A:p.R75Q	.	444	1074	4	0	0	4	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00411811444132	.	.	0.0004	0	0	0	0	0.0002	0	0.0007	3.88e-05	6	154602	rs756415955	8.24e-05	6.875e-05	7.989e-05	8.454e-05	0.0008	6.346e-05	5.686e-05	0.0001	0.0001	6.284e-05	5.78e-05	0	0.0002	0	0.0008	5.226e-05	9.754e-05	0.0002	4.598e-05	4.596e-05	3.853e-05	5.378e-05	6.546e-05	2.109e-05	1.526e-05	1.972e-05	1.124e-05	4.825e-05	0	6.546e-05	0	0	0	0	5.878e-05	0	0	0.0	0.91255	D	0.184	0.29056	T	0.829	0.46068	P	0.238	0.38539	B	.	.	.	.	0.99881	0.21894	N	1.38	0.34346	L	1.0	0.41392	T	-2.72	0.57920	D	0.086	0.06322	-1.0611	0.11483	T	0.055	0.23224	T	8	0.08057231	0.13093	T	0.004118	0.09869	T	0.102	0.29158	.	.	0.399304321381	0.39546	0.08535260995392956	0.08469	.	.	0.383756101131	0.22788	T	0.096631	0.39864	T	-0.386442	0.02835	T	-0.489744	0.23418	T	0.119540885637497	0.14385	T	0.547645	0.18800	T	0.45335877	0.64254	0.42849258	0.66561	0.45335877	0.64255	0.42849258	0.66561	-9.224	0.69127	D	.	.	0.110	0.21315	B	.	.	2.252619	0.28777	17.91	0.99442132038749853	0.64820	0.14307	0.18333	N	AEFDBCI	0.102845	0.20620	N	-0.216845649265845	0.32443	1.829667	-0.254625226136773	0.29611	1.660443	0.999934744439048	0.46732	0.660085	0.49399	0	0.435331	0.06439	0	0.662677	0.59975	0	0.444512	0.06955	0	.	.	0.685	0.685	0.17173	0.442000	0.21343	0.029000	0.13704	0.596000	0.33519	0.993000	0.37899	0.993000	0.31925	0.998000	0.85391	.	.	.	917	0.20147	HTH CenpB-type DNA-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	.	.	.	.	.	.	.	.	0.02632	281.33	29	chr2	232549659	.	C	T	281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.462;SOR=0.859	GT:AD:DP:GQ:PL	0/1:20,10:30:99:295,0,511	18	0	1	0
chr2	233320749	233320749	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon5:c.G301A:p.A101T	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	0	1474	42	6	0	54	0.017988	.	.	.	177079	Retinal_dystrophy|not_provided|Retinitis_pigmentosa|Oguchi_disease|not_specified	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.082	.	0.0053	0.00519169	0.0072	0.0009	0.0108	0.0007	0.0003	0.0096	0.0111	0.0057	0.0046183	714	154602	rs141521563	0.0055	0.0055	0.0054	0.0056	0.0217	0.0054	0.0054	0.0186	0.0174	0.0014	0.0065	0.0039	7.618e-05	0.0008	0.0217	0.0060	0.0060	0.0039	0.0049	0.0049	0.0052	0.0047	0.0103	0.0047	0.0045	0.0090	0.0085	0.0012	0.0022	0.0103	0.0037	0	0.0005	0.0442	0.0070	0.0109	0.0033	0.388	0.11406	T	0.478	0.11968	T	0.016	0.17332	B	0.005	0.11217	B	0.738102	0.09799	N	0.890096	1	0.08975	N	0.27	0.09956	N	2.62	0.12988	T	0.04	0.06488	N	0.085	0.06190	-0.9528	0.40485	T	0.013	0.04985	T	10	0.00363034	0.00066	T	.	.	.	0.082	0.23913	.	.	0.254244900254	0.25046	0.17835848608187713	0.17754	0.116900116094	0.13183	0.233760118484	0.02257	T	0.039324	0.25150	T	-0.703368	0.00035	T	-0.779948	0.02455	T	0.00457881012053394	0.00049	T	.	.	.	0.048743807	0.08546	0.047433566	0.06829	0.060242333	0.12337	0.04567798	0.06200	-3.757	0.20164	T	.	.	0.062	0.01367	B	.;.	.;.	1.185281	0.15760	12.08	0.96521220570154986	0.30115	0.04053	0.09499	N	AEFDBI	0.087851	0.17813	N	-0.980965216979719	0.09011	0.4247244	-1.01176104578037	0.09525	0.4744348	0.744458308868908	0.23263	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	-0.751	0.10518	-0.611000	0.05718	-1.023000	0.06573	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.2868:0.244:0.2244:0.2448	0.131	0.00068	861	0.33516	Arrestin-like, N-terminal;Arrestin-like, 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	0.016113	0.010101	0.023098	0.008772	0.000000	0.034483	0.018293	0.011364	0.05263	3313.83	34	chr2	233320749	.	G	A	3313.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.725;DP=901;ExcessHet=0.119;FS=2.053;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.257;SOR=0.561	GT:AD:DP:GQ:PL	0/1:71,57:128:99:1515,0,1845	17	0	2	0
chr2	233729862	233729862	G	T	exonic	UGT1A3	.	nonsynonymous SNV	UGT1A3:NM_019093:exon1:c.G736T:p.V246L	.	418	1092	9	3	0	15	0.00682128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0202958720907	0.0003	0.000399361	0.0008	0	0.0005	0.0001	0	0.0011	0.0022	0.0008	0.000705	109	154602	rs146461519	0.0005	0.0005	0.0004	0.0006	0.0075	0.0005	0.0005	0.0057	0.0051	0.0001	0.0009	0.0011	2.519e-05	3.744e-05	0.0075	0.0004	0.0012	0.0013	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	7.226e-05	0	0.0005	0.0012	0	0	0.0068	0.0007	0.0005	0.0008	0.647	0.04897	T	0.671	0.06284	T	0.88	0.48402	P	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.65	0.16133	N	0.14	0.60854	T	-0.12	0.08809	N	0.051	0.02272	-1.0446	0.15942	T	0.103	0.37869	T	9	0.020301044	0.00466	T	0.020296	0.42866	T	0.107	0.30369	0.35	0.34760	0.556500605119	0.55309	0.23874016186969665	0.23788	0.0746738777092	0.08380	.	.	.	0.062271	0.31873	T	-0.539274	0.00338	T	-0.592958	0.13411	T	0.0331653533117172	0.02498	T	0.250275	0.03772	T	0.057707038	0.11518	0.05807759	0.10671	0.057707038	0.11517	0.05807759	0.10670	-1.683	0.02185	T	0.11112597090426783	0.09469	0.163	0.36073	B	.	.	0.536588	0.09050	5.835	0.69367463529244211	0.08949	0.09681	0.15382	N	AEFBI	0.755393	0.69497	D	-0.722585577991354	0.15387	0.7750542	-0.823032687513184	0.13937	0.7257032	0.00719069019561272	0.11405	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.0	3.1	0.34780	-0.661000	0.05410	-2.619000	0.03542	0.520000	0.23804	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0899:0.3876:0.3797:0.1428	4.207	0.09952	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007617	0.000000	0.013661	0.008333	0.055556	0.008621	0.006494	0.007752	0.05263	6687.83	34	chr2	233729862	.	G	T	6687.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.27;DP=1823;ExcessHet=0.119;FS=1.11;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.95;MQRankSum=0.968;QD=13.24;ReadPosRankSum=-0.41;SOR=0.84	GT:AD:DP:GQ:PL	0/1:127,117:244:99:3261,0,3384	17	0	2	0
chr2	240592060	240592060	C	A	exonic	CAPN10	.	nonsynonymous SNV	CAPN10:NM_023083:exon4:c.C598A:p.P200T,CAPN10:NM_023085:exon4:c.C598A:p.P200T	.	0	1512	10	0	0	10	0.00329598	.	.	.	733323	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.122	.	0.0007	0.00838658	0.0047	0.0007	0.0016	0.0540	0	0.0007	0.0062	0.0009	0.0034346	531	154602	rs3792268	0.0022	0.0022	0.0023	0.0021	0.0499	0.0022	0.0021	0.0480	0.0473	0.0013	0.0015	0	0.0499	0.0001	0.0033	0.0008	0.0025	0.0013	0.0021	0.0021	0.0018	0.0024	0.0387	0.0019	0.0018	0.0343	0.0326	0.0006	0	0.0014	0	0.0387	0	0.0034	0.0008	0.0043	0.0025	0.144	0.25255	T	0.171	0.30339	T	0.001	0.09854	B	0.002	0.06944	B	0.953518	0.08271	N	0.978492	1	0.08975	N	1.14	0.29013	L	-2.19	0.86815	D	-2.23	0.52776	N	0.058	0.13769	-0.7691	0.56907	T	0.189	0.53960	T	10	0.0033745766	0.00059	T	.	.	.	0.122	0.33800	.	.	0.866183225784	0.86488	0.33931110069592474	0.33844	0.38469603296	0.39763	0.339198350906	0.16318	T	0.184771	0.53753	T	-0.458986	0.00997	T	-0.390343	0.34511	T	0.00510928330171263	0.00055	T	0.60284	0.23898	T	0.061425317	0.12719	0.044545412	0.05795	0.061425317	0.12719	0.044545412	0.05795	-4.262	0.29106	T	.	.	0.069	0.02993	B	.;.;.;.	.;.;.;.	0.018792	0.04415	1.151	0.90999501848006625	0.20249	0.02530	0.07040	N	AEFBI	0.050226	0.08758	N	-1.00029555709928	0.08598	0.4037346	-1.04629914209216	0.08785	0.4336137	0.139644435560318	0.17248	0.706548	0.73137	0	0.697927	0.68747	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.37	1.46	0.21769	1.134000	0.31055	-0.362000	0.09668	-0.222000	0.07959	0.501000	0.26963	0.000000	0.08366	0.000000	0.00833	0.364:0.5343:0.0:0.1018	5.105	0.14111	994	0.00715	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;.;Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.008056	0.040404	0.004087	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1620.33	34	chr2	240592060	.	C	A	1620.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.864;DP=747;ExcessHet=0;FS=2.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-1.029;SOR=0.465	GT:AD:DP:GQ:PL	0/1:44,65:109:99:1634,0,1227	18	0	1	0
chr3	14926147	14926147	G	C	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_152536:exon18:c.G4146C:p.K1382N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.036770149645	.	.	8.282e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs777680897	6.842e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.007	0.69154	D	0.992	0.64738	D	0.928	0.66279	D	0.000575	0.43250	D	0.098818	0.999677	0.81001	D	2.635	0.77114	M	2.13	0.19588	T	-1.68	0.40082	N	0.552	0.57775	-1.0183	0.24269	T	0.109	0.39320	T	10	0.6339275	0.68673	D	0.03677	0.57199	D	0.267	0.58126	0.674	0.81200	0.591650888875	0.58842	0.5900949824051624	0.58939	0.693826668167	0.60735	0.565224528313	0.48004	T	0.418612	0.77090	T	-0.180144	0.23713	T	-0.399687	0.33420	T	0.81395311167434	0.47330	D	0.829517	0.49484	T	0.11806381	0.27823	0.13386129	0.32090	0.11806381	0.27823	0.13386129	0.32090	-5.593	0.42728	T	.	.	0.606	0.69115	P	.	.	3.523604	0.49401	22.8	0.99797305798887359	0.88283	0.77384	0.38041	D	AEFDGBCI	0.408548	0.48018	N	0.181176457610154	0.50296	3.220941	0.110094659573462	0.45062	2.776306	0.999962356901673	0.48965	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.61	1.24	0.20416	0.661000	0.24706	2.361000	0.32372	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4754:0.0:0.5246:0.0	9.598	0.38754	900	0.24599	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1336.33	37	chr3	14926147	.	G	C	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.616;DP=730;ExcessHet=0;FS=8.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.466;SOR=0.911	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1350,0,1676	18	0	1	0
chr3	27431420	27431420	A	C	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001321103:exon7:c.T1028G:p.L343R,SLC4A7:NM_001321104:exon7:c.T989G:p.L330R,SLC4A7:NM_001321105:exon7:c.T989G:p.L330R,SLC4A7:NM_001321106:exon7:c.T977G:p.L326R,SLC4A7:NM_003615:exon7:c.T1001G:p.L334R	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.055548583731	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs756654553	3.01e-05	3.01e-05	9.529e-06	5.088e-05	0.0005	2.282e-05	2.032e-05	0.0004	0.0003	0	0	0	0	0	0.0002	0	1.656e-05	0.0005	1.315e-05	1.314e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.047	0.44029	D	0.121	0.35840	T	0.268	0.36838	B	0.459	0.49454	P	0.060416	0.22250	N	0.321128	1	0.81001	D	1.245	0.31408	L	-1.07	0.78199	T	-1.29	0.34198	N	0.719	0.78737	-0.4815	0.69313	T	0.304	0.67492	T	10	0.44699088	0.58459	T	0.055549	0.66274	D	0.263	0.57612	0.334	0.32167	0.508672771687	0.50506	0.5109642635321001	0.51018	0.976168458682	0.73573	0.531454563141	0.43239	T	0.144977	0.48187	T	-0.027542	0.47774	T	0.0286381	0.72189	D	0.307037272309366	0.25293	T	0.859414	0.61165	D	0.6254494	0.74054	0.5621983	0.74666	0.6254494	0.74056	0.5621983	0.74667	-3.285	0.14219	T	.	.	0.101	0.17657	B	.;.;.;.;.;.	.;.;.;.;.;.	2.147176	0.27346	17.43	0.996326907328006	0.76142	0.83856	0.42949	D	ALL	0.644884	0.62098	D	0.0853282114533462	0.45779	2.82879	0.254262637202392	0.52890	3.461093	0.999999999999999	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.723	0.93126	0	.	.	5.98	5.98	0.97147	2.587000	0.45793	3.185000	0.36675	0.691000	0.84096	0.985000	0.35982	0.975000	0.29991	0.998000	0.85391	0.9273:0.0:0.0727:0.0	10.498	0.43974	375	0.84013	Band 3 cytoplasmic domain;Band 3 cytoplasmic domain;.;.;.;Band 3 cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1398.33	37	chr3	27431420	.	A	C	1398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=757;ExcessHet=0;FS=1.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-1.694;SOR=0.536	GT:AD:DP:GQ:PL	0/1:75,56:131:99:1412,0,1970	18	0	1	0
chr3	39144409	39144409	G	T	exonic	CSRNP1	.	nonsynonymous SNV	CSRNP1:NM_001320559:exon4:c.C568A:p.P190T,CSRNP1:NM_001320560:exon4:c.C508A:p.P170T,CSRNP1:NM_033027:exon4:c.C508A:p.P170T	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00417887885368	0.0012	0.000599042	0.0013	0.0003	0.0015	0	0.0002	0.0021	0.0011	0	0.0013001	201	154602	rs145888015	0.0017	0.0017	0.0017	0.0017	0.0024	0.0017	0.0016	0.0021	0.0019	0.0002	0.0024	0.0004	0	0.0003	0.0009	0.0020	0.0019	3.479e-05	0.0012	0.0012	0.0014	0.0011	0.0020	0.0011	0.0010	0.0016	0.0015	0.0004	0	0.0020	0.0006	0	0.0002	0.0034	0.0019	0.0052	0	0.233	0.18122	T	0.12	0.35970	T	0.152	0.28062	B	0.069	0.27757	B	0.000554	0.43413	D	0.156845	1	0.08975	N	0.69	0.16971	N	2.49	0.14531	T	1.18	0.01107	N	0.131	0.12627	-1.0006	0.29746	T	0.019	0.07753	T	10	0.006747216	0.00153	T	0.004179	0.10058	T	0.065	0.18881	.	.	0.082315109003	0.07666	0.1927263571788251	0.19190	0.31758600541	0.34000	0.398767948151	0.24896	T	0.114088	0.43163	T	-0.640777	0.00082	T	-0.699376	0.05860	T	0.013392302398815	0.00242	T	0.646635	0.25786	T	0.046507858	0.07794	0.0607372	0.11616	0.046507858	0.07793	0.0607372	0.11615	-4.326	0.28540	T	.	.	0.076	0.06295	B	.;.	.;.	2.331167	0.29866	18.26	0.55885972583956067	0.05436	0.71476	0.35029	D	AEFDBHCI	0.114877	0.22610	N	-0.563117661186311	0.20074	1.055571	-0.498818475397158	0.22187	1.20383	0.999999978414917	0.74766	0.489673	0.17934	0	0.552637	0.17590	0	0.759307	0.98198	0	0.636168	0.56350	0	.	.	5.14	3.17	0.35510	3.117000	0.50099	5.384000	0.48464	0.676000	0.76740	0.908000	0.31627	1.000000	0.68203	0.003000	0.05239	0.0:0.1428:0.7096:0.1476	10.537	0.44198	370	0.84343	Cysteine/serine-rich nuclear protein, N-terminal domain;Cysteine/serine-rich nuclear protein, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.005435	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1536.33	99	chr3	39144409	.	G	T	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.448;DP=1650;ExcessHet=0;FS=2.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-1.134;SOR=0.508	GT:AD:DP:GQ:PL	0/1:44,57:101:99:1550,0,1220	18	0	1	0
chr3	40044238	40044238	A	G	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284423:exon3:c.A299G:p.K100R,MYRIP:NM_001284424:exon3:c.A299G:p.K100R,MYRIP:NM_001284425:exon3:c.A169G:p.R57G,MYRIP:NM_015460:exon3:c.A299G:p.K100R	.	430	1081	10	1	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0182370416144	.	0.00179712	0.0032	0.0004	0.0023	0	0.0003	0.0046	0.0033	0.0028	0.0027684	428	154602	rs78333608	0.0031	0.0031	0.0029	0.0032	0.0116	0.0030	0.0030	0.0094	0.0086	0.0008	0.0031	0.0132	2.519e-05	0.0004	0.0116	0.0031	0.0040	0.0029	0.0027	0.0027	0.0030	0.0023	0.0036	0.0025	0.0024	0.0032	0.0031	0.0007	0	0.0025	0.0176	0	0.0003	0.0102	0.0036	0.0066	0.0025	0.153	0.24372	T	0.686	0.06325	T	0.016	0.17332	B	0.006	0.12133	B	0.000002	0.62929	D	0.057568	0.870215	0.36039	D	.	.	.	-1.05	0.76690	T	-0.77	0.21429	N	0.38	0.42149	-1.0714	0.09108	T	0.038	0.16376	T	9	0.007050365	0.00160	T	0.018237	0.40237	T	0.171	0.43483	.	.	0.747945037046	0.74567	0.17237666544480867	0.17157	0.0958547809108	0.10824	0.505407094955	0.39581	T	0.103352	0.41192	T	-0.413328	0.01889	T	-0.366501	0.37298	T	0.010854448576527	0.00155	T	0.756624	0.37993	T	0.07325204	0.16357	0.07547721	0.16620	0.07325204	0.16356	0.07547721	0.16620	-4.442	0.30705	T	.	.	0.090	0.12512	B	.;.;.	.;.;.	2.387104	0.30647	18.50	0.99485037414579836	0.67124	0.81850	0.41173	D	AEFBCI	0.534868	0.55373	D	-0.265677819356349	0.30483	1.700102	-0.0652685974124645	0.36836	2.148911	0.999537568198276	0.40238	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	4.15	0.47978	3.759000	0.54939	5.854000	0.50366	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.9043:0.0:0.0957:0.0	9.706	0.39380	860	0.33753	Rab-binding domain;Rab-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.010101	0.010870	0.002924	0.000000	0.000000	0.015244	0.011364	0.05263	5061.83	42	chr3	40044238	.	A	G	5061.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.558;DP=938;ExcessHet=0.119;FS=3.619;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.575;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,69:169:99:0|1:40044238_A_G:2561,0,3968:40044238	17	0	2	0
chr3	40044239	40044239	G	A	exonic	MYRIP	.	nonsynonymous SNV	MYRIP:NM_001284425:exon3:c.G170A:p.R57K	.	431	1080	10	1	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00357324005961	.	0.00179712	0.0032	0.0004	0.0023	0	0.0003	0.0046	0.0033	0.0028	0.0027684	428	154602	rs75059664	0.0031	0.0031	0.0029	0.0032	0.0116	0.0030	0.0030	0.0094	0.0086	0.0008	0.0031	0.0132	2.519e-05	0.0004	0.0116	0.0031	0.0040	0.0029	0.0027	0.0027	0.0030	0.0023	0.0036	0.0025	0.0024	0.0032	0.0031	0.0007	0	0.0025	0.0176	0	0.0003	0.0102	0.0036	0.0066	0.0025	0.066	0.36113	T	0.329	0.18617	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.72	0.26588	T	-1.27	0.31981	N	0.227	0.25499	-1.0767	0.08003	T	0.042	0.18035	T	7	0.0034650266	0.00061	T	0.003573	0.08154	T	0.078	0.22779	.	.	0.276898752692	0.27294	.	.	.	.	.	.	.	.	.	.	-0.439613	0.01300	T	-0.404257	0.32890	T	0.00482526047398929	0.00052	T	0.259074	0.04125	T	.	.	.	.	.	.	.	.	-3.986	0.23594	T	.	.	0.089	0.12132	B	.	.	0.336994	0.07107	3.682	0.91495170851510488	0.20769	0.75806	0.37136	D	AEFBCI	0.106788	0.21295	N	-0.898890919636809	0.10868	0.5215509	-0.783454552380941	0.14900	0.7809845	0.996668658651023	0.34909	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	2.64	0.30504	3.215000	0.50871	1.109000	0.24140	-1.332000	0.01214	1.000000	0.71638	0.897000	0.27914	0.812000	0.38265	0.221:0.0:0.779:0.0	11.507	0.49724	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.010101	0.010870	0.002924	0.000000	0.000000	0.015244	0.007576	0.05263	5061.83	42	chr3	40044239	.	G	A	5061.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.5;DP=935;ExcessHet=0.119;FS=3.619;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.351;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,69:169:99:0|1:40044238_A_G:2561,0,3968:40044238	17	0	2	0
chr3	42202459	42202459	C	T	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001265609:exon12:c.C1229T:p.P410L,TRAK1:NM_001265610:exon12:c.C1229T:p.P410L,TRAK1:NM_001349248:exon12:c.C1229T:p.P410L,TRAK1:NM_001349249:exon12:c.C1229T:p.P410L,TRAK1:NM_014965:exon12:c.C1277T:p.P426L,TRAK1:NM_001042646:exon13:c.C1451T:p.P484L,TRAK1:NM_001265608:exon13:c.C1451T:p.P484L,TRAK1:NM_001349245:exon13:c.C1139T:p.P380L,TRAK1:NM_001349246:exon13:c.C1451T:p.P484L,TRAK1:NM_001349247:exon13:c.C1451T:p.P484L	.	428	1093	1	0	0	1	0.000457247	.	.	.	734061	not_provided|TRAK1-related_disorder|Developmental_and_epileptic_encephalopathy,_68|Inborn_genetic_diseases	MedGen:C3661900|.|MONDO:MONDO:0032598,MedGen:C4748688,OMIM:618201|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.103	0.0214983699705	0.0009	0.00139776	0.0005	0.0044	0.0005	0	0	4.85e-05	0	0	0.000414	64	154602	rs138190882	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0035	0.0033	0.0041	0.0006	0	0	0	0.0026	6.873e-05	0.0004	1.539e-05	0.0009	0.0009	0.0008	0.0010	0.0029	0.0008	0.0007	0.0024	0.0023	0.0029	0	0.0005	0	0	0	0	0.0001	0.0009	0	0.416	0.10980	T	0.645	0.12993	T	0.207	0.40281	B	0.065	0.28435	B	0.000002	0.62929	N	0.058716	0.999981	0.54805	D	0.285	0.10073	N	1.12	0.38718	T	-1.33	0.40082	N	0.375	0.47487	-1.1258	0.01994	T	0.064	0.26456	T	10	0.0070628524	0.00161	T	0.021498	0.44277	T	0.103	0.29403	.	.	0.594028420653	0.59081	0.5469960512660359	0.54625	0.278022119108	0.30289	0.527930498123	0.42742	T	0.090191	0.48710	T	-0.49552	0.00606	T	-0.485713	0.23842	T	0.0169836126755125	0.00448	T	0.806719	0.57909	T	0.06630631	0.14253	0.059661146	0.11235	0.06630631	0.14253	0.059661146	0.11234	-9.203	0.71919	D	.	.	0.068	0.14015	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.655283	0.34581	19.67	0.84964378638929039	0.15603	0.97991	0.78693	D	AEFDBI	0.366760	0.45446	N	-0.595769230371959	0.19073	0.9953442	-0.432554744788787	0.24048	1.314724	0.999993887110624	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.08	0.68373	4.877000	0.62779	4.886000	0.45715	-0.172000	0.11096	1.000000	0.71638	0.998000	0.33993	0.205000	0.22041	0.0:0.9342:0.0:0.0658	17.392	0.87325	688	0.59122	Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain;.;Trafficking kinesin-binding protein domain;.;Trafficking kinesin-binding protein domain;Trafficking kinesin-binding protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	2936.33	91	chr3	42202459	.	C	T	2936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1032;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.241;SOR=0.66	GT:AD:DP:GQ:PL	0/1:116,109:225:99:2950,0,2790	18	0	1	0
chr3	49271371	49271371	C	T	exonic	C3orf62	.	nonsynonymous SNV	C3orf62:NM_198562:exon3:c.G613A:p.G205S	.	434	1071	17	0	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00498835903467	0.0034	0.00119808	0.0029	0.0008	0.0010	0	0.0014	0.0045	0.0022	0.0012	0.0030983	479	154602	rs150162031	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	0	0.0019	0.0080	0.0056	0.0047	0.0017	0.0031	0.0031	0.0033	0.0029	0.0050	0.0029	0.0028	0.0046	0.0044	0.0011	0.0011	0.0035	0.0003	0	0.0015	0.0068	0.0050	0.0038	0.0008	0.162	0.23541	T	0.297	0.20551	T	0.051	0.22415	B	0.067	0.27542	B	0.079406	0.20986	N	0.404485	0.999992	0.08975	N	1.445	0.36358	L	0.79	0.49068	T	-2.9	0.60827	D	0.115	0.10340	-1.0477	0.15045	T	0.055	0.23338	T	10	0.0040697157	0.00079	T	0.004988	0.12598	T	0.012	0.01476	.	.	0.289474373501	0.28556	0.12887484892142367	0.12812	0.0816453080078	0.09195	.	.	.	0.037492	0.24493	T	-0.52518	0.00410	T	-0.523435	0.19946	T	0.00917204199756853	0.00116	T	0.582642	0.21138	T	0.05229814	0.09735	0.06583787	0.13400	0.05229814	0.09734	0.06583787	0.13400	-2.482	0.05660	T	.	.	0.076	0.06069	B	.	.	0.841708	0.12137	8.685	0.55620872445190972	0.05380	0.03476	0.08635	N	AEFDGBI	0.033556	0.04004	N	-0.759683506032497	0.14371	0.7153474	-0.734477403460254	0.16104	0.8503523	0.725265385761274	0.22980	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.16	2.19	0.26890	0.477000	0.21906	2.023000	0.30218	0.469000	0.21855	0.314000	0.25450	0.990000	0.31317	0.130000	0.19568	0.0:0.6775:0.0:0.3225	6.116	0.19348	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.005848	0.000000	0.008621	0.003049	0.003788	0.02632	1045.33	33	chr3	49271371	.	C	T	1045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=695;ExcessHet=0;FS=8.248;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.581;SOR=1.679	GT:AD:DP:GQ:PL	0/1:41,37:78:99:1059,0,1040	18	0	1	0
chr3	49510792	49510792	G	C	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon2:c.G258C:p.L86F,DAG1:NM_001177643:exon2:c.G258C:p.L86F,DAG1:NM_001177644:exon2:c.G258C:p.L86F,DAG1:NM_004393:exon2:c.G258C:p.L86F,DAG1:NM_001177635:exon3:c.G258C:p.L86F,DAG1:NM_001177637:exon3:c.G258C:p.L86F,DAG1:NM_001177638:exon3:c.G258C:p.L86F,DAG1:NM_001177640:exon3:c.G258C:p.L86F,DAG1:NM_001177641:exon3:c.G258C:p.L86F,DAG1:NM_001177642:exon3:c.G258C:p.L86F,DAG1:NM_001177636:exon4:c.G258C:p.L86F,DAG1:NM_001165928:exon5:c.G258C:p.L86F,DAG1:NM_001177634:exon5:c.G258C:p.L86F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	192381	DAG1-related_disorder|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A9|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2P|not_specified|not_provided	.|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538,Orphanet:370997,Orphanet:899|MONDO:MONDO:0013440,MedGen:C4511963,OMIM:613818,Orphanet:280333|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.225	0.0345599240663	0.0034	0.00119808	0.0029	0.0008	0.0011	0	0.0014	0.0045	0.0022	0.0012	0.0030853	477	154602	rs145403829	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	2.519e-05	0.0019	0.0080	0.0056	0.0048	0.0017	0.0031	0.0031	0.0033	0.0029	0.0051	0.0029	0.0028	0.0046	0.0045	0.0010	0.0011	0.0035	0.0003	0	0.0014	0.0068	0.0051	0.0038	0.0008	0.236	0.20381	T	0.148	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	0.009542	0.30309	N	0.282211	0.79151	0.34393	D	1.01	0.25309	L	-4.99	0.98507	D	-0.56	0.37759	N	0.148	0.15187	0.320	0.87869	D	0.728	0.90705	D	10	0.0061346292	0.00226	T	0.03456	0.55756	D	0.225	0.52323	0.718	0.85319	0.598950722394	0.59575	0.5055072432473939	0.50472	0.297566637379	0.32142	0.339848846197	0.16416	T	0.355552	0.72254	T	-0.249766	0.14126	T	-0.127822	0.61155	T	0.00495819392435207	0.00053	T	0.732227	0.47282	T	0.037615046	0.04856	0.042526096	0.05086	0.037615046	0.04856	0.042526096	0.05086	-5.321	0.40150	T	0.12676215551597242	0.12860	0.127	0.29283	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.319415	0.17233	13.04	0.97940415029161143	0.37028	0.75762	0.37112	D	AEFBI	0.262267	0.38004	N	-0.531824808102353	0.21057	1.114735	-0.322680728659568	0.27368	1.518104	0.00105108255013359	0.08159	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.3	0.50540	1.018000	0.29604	2.259000	0.31747	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7593:0.0:0.0858:0.1549	5.342	0.15295	1	0.99630	Dystroglycan-type cadherin-like;.;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.005848	0.000000	0.008621	0.006098	0.000000	0.02632	1363.33	41	chr3	49510792	.	G	C	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=876;ExcessHet=0;FS=1.826;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=-0.323;SOR=0.991	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1377,0,861	18	0	1	0
chr3	49967940	49967940	C	T	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.C515T:p.P172L	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0100298902649	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs142246877	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0027	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.001	0.78490	D	0.021	0.64786	D	0.321	0.33029	B	0.062	0.26930	B	0.000894	0.41231	D	0.109289	0.999863	0.81001	D	1.65	0.42232	L	1.43	0.34452	T	-1.85	0.50992	N	0.486	0.52029	-1.0993	0.04177	T	0.083	0.32440	T	9	0.004526913	0.00093	T	0.01003	0.26080	T	0.083	0.24192	.	.	0.15499578495	0.15088	0.14153409268837117	0.14076	0.305705308733	0.32871	0.419859230518	0.27816	T	0.042636	0.26245	T	-0.382983	0.02983	T	-0.319179	0.42666	T	0.0381481344631312	0.03359	T	0.770723	0.40088	T	0.08188415	0.18837	0.20852245	0.45158	0.08188415	0.18837	0.20852245	0.45157	-5.356	0.40494	T	.	.	0.103	0.24599	B	.;.	.;.	3.351299	0.46229	22.3	0.99153785998759991	0.53903	0.90023	0.50882	D	AEFBI	0.339796	0.43682	N	0.143595569422062	0.48509	3.062314	0.316290365851008	0.56498	3.813063	0.999999963288483	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	4.948000	0.63290	3.916000	0.40440	0.599000	0.40250	0.957000	0.33433	0.985000	0.30750	0.998000	0.85391	0.0:1.0:0.0:0.0	20.241	0.98374	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.010870	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	2465.33	39	chr3	49967940	.	C	T	2465.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.904;DP=815;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=0.755;SOR=0.536	GT:AD:DP:GQ:PL	0/1:68,86:154:99:2479,0,1960	18	0	1	0
chr3	49968422	49968422	G	A	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.G997A:p.E333K	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.0143845706614	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs143972186	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0028	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.003	0.68238	D	0.029	0.60972	D	0.997	0.70673	D	0.985	0.76457	D	0.000098	0.51296	D	0.128334	0.999955	0.81001	D	1.67	0.42885	L	1.11	0.38883	T	-0.85	0.26843	N	0.602	0.62781	-0.9783	0.35390	T	0.157	0.48976	T	9	0.009088129	0.00206	T	0.014385	0.34475	T	0.185	0.45933	.	.	0.452650218784	0.44890	0.11714516375178394	0.11642	0.724846526864	0.62416	0.580195665359	0.50113	T	0.024564	0.18538	T	-0.218656	0.18177	T	-0.0831343	0.64675	T	0.0142588193611451	0.00283	T	0.941106	0.80130	D	0.2278714	0.45495	0.30712542	0.56735	0.2278714	0.45495	0.30712542	0.56734	-5.463	0.41521	T	.	.	0.097	0.24767	B	.;.	.;.	4.537798	0.71295	25.7	0.99890397515720919	0.96436	0.96020	0.67171	D	AEFBI	0.584761	0.58345	D	0.581729494852184	0.72037	5.742766	0.632814666593863	0.77337	6.65978	0.999999901186462	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	5.689000	0.67897	11.683000	0.94248	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0698:0.0:0.9302:0.0	13.733	0.62284	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.010870	0.005848	0.000000	0.000000	0.003049	0.003788	0.02632	1910.33	39	chr3	49968422	.	G	A	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.271;SOR=0.709	GT:AD:DP:GQ:PL	0/1:91,73:164:99:1924,0,2478	18	0	1	0
chr3	51829696	51829696	G	T	exonic	IQCF3	.	nonsynonymous SNV	IQCF3:NM_001085479:exon6:c.G50T:p.R17I,IQCF3:NM_001207023:exon6:c.G50T:p.R17I	.	408	1098	16	0	0	16	0.00723327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0009	0.00359425	0.0033	0	0.0007	0.0001	0.0002	0.0017	0.0024	0.0175	0.0028201	436	154602	rs201305590	0.0018	0.0018	0.0013	0.0024	0.0169	0.0018	0.0018	0.0161	0.0159	8.963e-05	0.0005	0.0088	2.519e-05	0.0004	0.0080	0.0007	0.0024	0.0169	0.0014	0.0014	0.0010	0.0018	0.0162	0.0012	0.0012	0.0133	0.0122	7.217e-05	0.0011	0.0007	0.0092	0	0.0003	0	0.0012	0.0014	0.0162	0.028	0.46129	D	0.13	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.39	0.33842	T	-0.77	0.96495	N	0.219	0.36884	-1.0412	0.16951	T	0.031	0.13242	T	9	0.0038856268	0.00074	T	.	.	.	0.027	0.05988	.	.	0.0920862733494	0.08535	0.039497915795247085	0.03895	0.36538535664	0.38135	0.321182668209	0.13601	T	0.014567	0.12376	T	-0.646992	0.00075	T	-0.68851	0.06476	T	0.010346648393807	0.00141	T	0.536546	0.20426	T	0.051029682	0.09311	0.05201158	0.08486	0.051029682	0.09310	0.05201158	0.08486	-6.331	0.48967	T	.	.	0.098	0.69210	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.238427	0.00494	0.011	0.85686116361670706	0.16048	0.00913	0.03561	N	AEFBI	0.032840	0.03785	N	-1.9154874713227	0.00319	0.01370181	-2.02509407177228	0.00271	0.01195088	0.938324185053291	0.27338	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.79	-7.58	0.01172	-2.441000	0.01091	-4.491000	0.02129	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3809:0.1729:0.1224:0.3238	0.695	0.00840	183	0.92871	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.000000	0.001359	0.002924	0.000000	0.008621	0.003067	0.015152	0.02632	1719.33	35	chr3	51829696	.	G	T	1719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.813;DP=767;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.386;SOR=0.598	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1733,0,1802	18	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,36:120:99:0|1:75730450_C_T:1248,0,3419:75730450	0	0	19	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,13:110:99:0|1:75736884_G_GA:239,0,4014:75736884	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,13:115:99:0|1:75736884_G_GA:224,0,4137:75736884	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,16:121:99:0|1:75736920_C_A:356,0,4286:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,16:116:99:0|1:75736920_C_A:371,0,4147:75736920	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:84,25:109:99:464,0,2573	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:82,26:108:99:455,0,2793	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,33:128:99:0|1:75737060_A_G:1061,0,3854:75737060	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,34:137:99:0|1:75737060_A_G:1118,0,4223:75737060	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,34:136:99:0|1:75737060_A_G:1121,0,4181:75737060	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,33:133:99:0|1:75737060_A_G:1085,0,4100:75737060	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,24:120:99:0|1:75737060_A_G:719,0,3959:75737060	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,17:100:99:0|1:75737060_A_G:464,0,3424:75737060	0	0	19	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,42:151:99:.:.:1292,0,4342:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,46:166:99:0|1:75737590_A_G:1542,0,4890:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,56:179:99:0|1:75737590_A_G:1981,0,4996:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,57:177:99:0|1:75737590_A_G:2032,0,4867:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,59:181:99:0|1:75737590_A_G:2110,0,4945:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,57:173:99:0|1:75737590_A_G:2044,0,4699:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,58:202:99:0|1:75737814_C_T:1938,0,5471:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,26:174:99:0|1:75737881_T_C:506,0,6053:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,18:176:99:0|1:75737881_T_C:254,0,6544:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,19:180:99:0|1:75737881_T_C:282,0,6620:75737881	1	0	18	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	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:65,13:78:99:145,0,1842	1	0	18	0
chr3	77622301	77622301	C	G	exonic	ROBO2	.	nonsynonymous SNV	ROBO2:NM_001378193:exon23:c.C3629G:p.S1210C,ROBO2:NM_002942:exon23:c.C3629G:p.S1210C,ROBO2:NM_001290039:exon24:c.C3641G:p.S1214C,ROBO2:NM_001290040:exon24:c.C3641G:p.S1214C,ROBO2:NM_001290065:exon24:c.C1850G:p.S617C,ROBO2:NM_001378192:exon24:c.C3710G:p.S1237C,ROBO2:NM_001378197:exon24:c.C3755G:p.S1252C,ROBO2:NM_001378198:exon24:c.C3710G:p.S1237C,ROBO2:NM_001378199:exon24:c.C3710G:p.S1237C,ROBO2:NM_001378202:exon24:c.C3632G:p.S1211C,ROBO2:NM_001378194:exon25:c.C3827G:p.S1276C	Vesicoureteral reflux 2	0	1518	4	0	0	4	0.00131579	.	.	.	3727470	Vesicoureteral_reflux_2	MONDO:MONDO:0012573,MedGen:C1970483,OMIM:610878,Orphanet:289365	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.286	0.14622542197	.	.	2.485e-05	0	0	0	0	2.998e-05	0	6.057e-05	1.94e-05	3	154602	rs755603547	3.42e-06	3.42e-06	5.445e-06	1.375e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.025	0.56192	D	0.999	0.90584	D	0.984	0.86255	D	0.000970	0.40836	D	0.000000	.	.	.	2.22	0.62911	M	-0.15	0.68181	T	-2.9	0.60827	D	0.814	0.81459	-0.1301	0.79399	T	0.446	0.78228	T	9	0.5610354	0.64789	D	0.146225	0.82835	D	0.368	0.68757	0.392	0.41606	0.692491047091	0.68984	0.3414592856749596	0.34058	0.600408321793	0.55127	0.730992436409	0.71651	T	0.480885	0.80968	T	0.134267	0.67776	D	0.0519428	0.73712	D	0.56103002722639	0.34893	D	0.959204	0.86103	D	0.27371246	0.50438	0.29430073	0.55460	0.27371246	0.50438	0.29430073	0.55459	-6.9	0.53299	T	.	.	0.495	0.68553	A	.;.;.;.	.;.;.;.	4.466072	0.69550	25.4	0.99050237252841855	0.51230	0.98939	0.88905	D	AEFI	0.916133	0.88191	D	0.695041198458521	0.79309	7.050269	0.669872621522223	0.80098	7.223935	0.999999429847807	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	7.568000	0.81546	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0:1.0:0.0:0.0	19.508	0.95122	551	0.72115	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1732.33	33	chr3	77622301	.	C	G	1732.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.419;DP=760;ExcessHet=0;FS=4.081;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.347;SOR=0.438	GT:AD:DP:GQ:PL	0/1:62,73:135:99:1746,0,1810	18	0	1	0
chr3	86968949	86968949	T	A	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A578T:p.H193L,VGLL3:NM_001320494:exon3:c.A419T:p.H140L,VGLL3:NM_016206:exon3:c.A578T:p.H193L	.	402	1099	21	0	0	21	0.00946372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	.	0.0081	0.00379393	0.0074	0.0032	0.0036	0	0.0107	0.0098	0.0067	0.0054	0.007115	1100	154602	rs79345443	0.0098	0.0098	0.0100	0.0097	0.0113	0.0097	0.0096	0.0109	0.0108	0.0021	0.0049	0.0054	5.038e-05	0.0106	0.0113	0.0111	0.0086	0.0058	0.0074	0.0074	0.0073	0.0074	0.0108	0.0070	0.0069	0.0102	0.0099	0.0020	0.0164	0.0056	0.0052	0.0002	0.0116	0.0306	0.0108	0.0099	0.0058	0.004	0.68238	D	0.359	0.23164	T	0.41	0.35064	B	0.071	0.27960	B	0.000429	0.44522	D	0.154637	0.999985	0.54805	D	2.425	0.70256	M	0.88	0.47815	T	-4.36	0.76980	D	0.511	0.54234	-0.8835	0.49480	T	0.110	0.39699	T	10	0.008695096	0.00197	T	.	.	.	0.222	0.51872	.	.	0.276065633971	0.27208	0.5476830193202381	0.54694	0.400510994764	0.41053	0.588839530945	0.51330	T	0.154338	0.49559	T	-0.118266	0.33408	T	0.0653047	0.74597	D	0.0378037034534093	0.03297	T	0.849215	0.53152	T	0.3485719	0.56956	0.3174082	0.57715	0.3485719	0.56956	0.3174082	0.57715	-2.864	0.08788	T	.	.	0.117	0.27433	B	.;.	.;.	3.321003	0.45673	22.2	0.97824064956744039	0.36213	0.97110	0.72748	D	AEFBI	0.616044	0.60276	D	0.240166363538059	0.53154	3.485651	0.351726897792337	0.58611	4.032735	0.999999999999794	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.870000	0.48150	5.137000	0.47688	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.816	0.78379	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.010101	0.008152	0.020468	0.050000	0.000000	0.021341	0.015152	0.02632	1668.33	40	chr3	86968949	.	T	A	1668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=1.29;SOR=0.654	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1682,0,1414	18	0	1	0
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	487.75	41	chr3	98133455	.	GACCCC	G	487.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.825;DP=1767;ExcessHet=0.3672;FS=79.695;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.63;ReadPosRankSum=0.637;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,18:116:99:0|1:98133455_GACCCC_G:313,0,3826:98133455	16	0	3	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3550.9	41	chr3	98133456	.	ACCCC	*	3550.9	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,18:116:99:0|1:98133455_GACCCC_G:313,0,3826:98133455	16	0	3	0
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	412.34	59	chr3	98133457	.	C	*	412.34	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=11;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,18:116:99:0|1:98133455_GACCCC_G:313,0,3826:98133455	3	0	8	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	378.48	59	chr3	98133459	.	C	*	378.48	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.973;DP=1809;ExcessHet=4.0268;FS=142.708;InbreedingCoeff=-0.4616;MLEAC=10;MLEAF=0.455;MQ=59.99;MQRankSum=0;QD=0.44;ReadPosRankSum=2.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,18:116:99:0|1:98133455_GACCCC_G:313,0,3826:98133455	4	0	7	8
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4817.21	59	chr3	98133460	.	C	CGGGGG	4817.21	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,17:114:99:0|1:98133455_GACCCC_G:274,0,3808:98133455	9	0	3	7
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2226.54	47	chr3	98133463	.	C	G	2226.54	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-4.732;DP=1356;ExcessHet=1.3;FS=121.465;InbreedingCoeff=-0.1665;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.706;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,17:112:99:0|1:98133455_GACCCC_G:280,0,3683:98133455	14	0	4	1
chr3	108634899	108634899	G	A	exonic	DZIP3	.	nonsynonymous SNV	DZIP3:NM_014648:exon10:c.G845A:p.S282N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00402358911509	.	0.00159744	0.0007	0	0	0	0	0	0	0.0051	0.000608	94	154602	rs200630414	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0032	3.01e-05	2.266e-05	0	2.547e-05	0	0	2.705e-06	0.0001	0.0037	0.0001	0.0001	5.149e-05	0.0002	0.0037	7.585e-05	6.289e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.299	0.17183	T	0.589	0.38596	T	0.0	0.02946	B	0.0	0.06944	B	0.002564	0.36316	N	0.196016	0.946689	0.26623	N	0.345	0.11182	N	0.89	0.45636	T	0.05	0.09965	N	0.238	0.31253	-1.0690	0.09634	T	0.042	0.17994	T	10	0.007355958	0.00167	T	0.004024	0.09556	T	0.024	0.04979	0.28	0.23483	0.281780670237	0.27795	0.10852380762602983	0.10781	0.0802949593895	0.09039	0.519406676292	0.41543	T	0.027895	0.25016	T	-0.588067	0.00172	T	-0.617091	0.11413	T	0.0355978573040198	0.02911	T	0.59614	0.22137	T	0.04346074	0.06778	0.044223413	0.05680	0.04346074	0.06778	0.044223413	0.05679	-3.118	0.11504	T	.	.	0.075	0.07841	B	.;.;.	.;.;.	1.865908	0.23701	16.12	0.58196119817632408	0.05938	0.40628	0.26479	N	AEFBI	0.067690	0.13319	N	-0.797454381760893	0.13376	0.6585095	-0.592917984516219	0.19676	1.056784	0.00477360487119593	0.10707	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.08	2.08	0.26079	0.573000	0.23401	4.146000	0.42119	-0.144000	0.12334	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.2101:0.0:0.5927:0.1972	3.600	0.07566	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1367.33	35	chr3	108634899	.	G	A	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.199;DP=714;ExcessHet=0;FS=4.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.853;SOR=0.346	GT:AD:DP:GQ:PL	0/1:35,50:85:99:1381,0,954	18	0	1	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134439:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_145753:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134437:exon3:c.1124_1129del:p.C376_A377del	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	10708.3	35	chr3	111885119	.	TCCTGTG	T	10708.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.892;DP=1198;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=0.653;SOR=0.697	GT:AD:DP:GQ:PL	0/1:68,63:131:99:2433,0,2658	14	0	5	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:81,34:126:33:33,0,1531	4	0	13	2
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,21:73:99:.:.:180,0,1303:.	3	0	16	0
chr3	129171697	129171697	T	C	exonic	CNBP	.	nonsynonymous SNV	CNBP:NM_001127192:exon2:c.A61G:p.T21A,CNBP:NM_001127193:exon2:c.A61G:p.T21A,CNBP:NM_001127194:exon2:c.A61G:p.T21A,CNBP:NM_001127195:exon2:c.A61G:p.T21A,CNBP:NM_001127196:exon2:c.A61G:p.T21A,CNBP:NM_003418:exon2:c.A61G:p.T21A	Myotonic dystrophy 2, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	1309572	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	.	0.0013	0.000998403	0.0027	0.0003	0.0005	0.0001	0.0132	0.0034	0.0022	0.0001	0.0023932	370	154602	rs140065732	0.0019	0.0019	0.0019	0.0019	0.0016	0.0019	0.0018	0.0015	0.0015	0.0001	0.0004	0.0050	0	0.0141	0.0003	0.0016	0.0021	0.0002	0.0026	0.0026	0.0022	0.0031	0.0030	0.0024	0.0023	0.0027	0.0025	0.0003	0	0.0003	0.0049	0.0002	0.0144	0	0.0030	0.0014	0	0.564	0.47320	T	0.57	0.10857	T	0.047	0.29512	B	0.05	0.32463	B	0.000016	0.62929	D	0.153551	0.999996	0.58761	D	0.975	0.24501	L	-1.0	0.76037	T	-0.18	0.21215	N	0.269	0.34981	-0.7370	0.58606	T	0.254	0.62451	T	10	0.009103715	0.00206	T	.	.	.	0.208	0.49714	.	.	0.921627489761	0.92083	0.40961882795662113	0.40877	1.21448580171	0.80910	0.717456459999	0.69676	T	0.198127	0.55501	T	-0.152326	0.27947	T	0.011585	0.71084	D	0.00940018152719962	0.00120	T	0.652935	0.31283	T	0.1466438	0.33560	0.072902076	0.15780	0.10972497	0.25939	0.07556488	0.16649	-6.924	0.56415	T	.	.	0.073	0.22861	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.807518	0.36945	20.4	0.9774257727594784	0.35689	0.97767	0.76985	D	AEFBI	0.669071	0.63663	D	-0.0486080850925516	0.39664	2.342779	0.159911836203351	0.47669	2.993698	0.999999999917143	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	4.633000	0.61016	1.933000	0.29783	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.175	0.65074	385	0.83500	Zinc finger, CCHC-type;Zinc finger, CCHC-type;.;.;.;.;.;Zinc finger, CCHC-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1248.33	40	chr3	129171697	.	T	C	1248.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=859;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.717;SOR=0.562	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1262,0,1624	18	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	.	.	.	.	.	.	.	.	0.1875	5712.42	63	chr3	130421335	.	G	A	5712.42	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,26:69:99:0|1:130421335_G_A:428,0,1092:130421335	10	0	6	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,26:69:99:0|1:130421335_G_A:428,0,1092:130421335	3	0	13	3
chr3	130565231	130565231	C	T	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon3:c.C899T:p.S300F	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0496727804386	.	.	8.282e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs746495709	1.026e-05	1.026e-05	5.445e-06	1.513e-05	0.0002	6.16e-06	4.89e-06	8.885e-05	7.053e-05	0	0	0	0	0	0.0002	0	1.656e-05	0.0002	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.61437	D	0.0	0.92824	D	0.939	0.52645	P	0.602	0.50862	P	0.004508	0.33669	N	0.212364	0.999988	0.18198	N	2.98	0.85499	M	-1.24	0.78967	T	-4.74	0.80172	D	0.372	0.41360	-0.2048	0.77546	T	0.521	0.82119	D	10	0.43955112	0.58012	T	0.049673	0.63915	D	0.356	0.67691	0.466	0.53729	0.543910352347	0.54045	0.552486893211384	0.55174	0.329062908688	0.35019	0.347632408142	0.17573	T	0.232816	0.59947	T	-0.0695311	0.41403	T	-0.240799	0.50720	T	0.966296434402466	0.67537	D	0.70043	0.31009	T	0.5300451	0.68833	0.43129534	0.66752	0.5300451	0.68834	0.43129534	0.66752	-5.276	0.39705	T	.	.	0.103	0.18414	B	.	.	3.339113	0.46004	22.2	0.99764934210856637	0.85417	0.57620	0.30425	D	AEFBI	0.311882	0.41748	N	0.0837804001301322	0.45708	2.822756	-0.0759137004909552	0.36388	2.11704	0.981589674939926	0.30283	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.8	4.8	0.61157	0.987000	0.29203	3.979000	0.40889	0.599000	0.40250	0.000000	0.06391	0.997000	0.33255	0.029000	0.12982	0.0:1.0:0.0:0.0	17.817	0.88548	659	0.61982	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	.	.	.	.	.	.	.	.	0.02632	1840.33	33	chr3	130565231	.	C	T	1840.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.52;DP=798;ExcessHet=0;FS=1.346;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.631;SOR=0.712	GT:AD:DP:GQ:PL	0/1:71,67:138:99:1854,0,1700	18	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	.	.	.	.	.	.	.	.	0.1071	99.18	152	chr3	133811164	.	G	C	99.18	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-3.731;DP=2066;ExcessHet=0.3672;FS=124.298;InbreedingCoeff=-0.1832;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.55;SOR=9.419	GT:AD:DP:GQ:PL	0/1:141,26:167:60:60,0,4965	11	0	3	5
chr3	136327686	136327686	C	T	exonic	PCCB	.	nonsynonymous SNV	PCCB:NM_000532:exon13:c.C1352T:p.T451I,PCCB:NM_001178014:exon14:c.C1412T:p.T471I	Propionicacidemia, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	YES	708603	not_provided|Propionic_acidemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.486	0.0472963051034	0.0002	0.00179712	0.0005	9.612e-05	0	0	0	0.0001	0	0.0031	0.0004657	72	154602	rs145135400	0.0003	0.0003	0.0002	0.0004	0.0033	0.0002	0.0002	0.0030	0.0029	0	4.472e-05	0	0	0	0.0009	7.824e-05	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	0	0	0	0	0	0	0.0034	0.0001	0.0005	0.0046	0.881	0.03125	T	0.719	0.05805	T	0.0	0.02946	B	0.002	0.10090	B	0.006688	0.31864	N	0.357319	1	0.81001	D	-2.195	0.00125	N	-3.49	0.97343	D	0.96	0.02038	N	0.616	0.74371	-0.2841	0.75429	T	0.493	0.80772	T	10	0.015039772	0.00316	T	0.047296	0.62856	D	0.486	0.77464	.	.	0.794198460529	0.79228	0.5838600639256928	0.58315	0.10943183784	0.12343	0.40513291955	0.25782	T	0.551794	0.84837	D	-0.0810675	0.39541	T	0.107725	0.77423	D	0.0419647081702453	0.04048	T	0.90371	0.66210	D	0.025217675	0.01436	0.034889895	0.02638	0.024935598	0.01376	0.03201962	0.01874	1.027	0.00233	T	0.04617891211752158	0.00623	0.084	0.22717	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.589980	0.20337	14.70	0.21000547919876791	0.00781	0.67879	0.33594	D	AEFBI	0.548342	0.56167	D	-0.833353200162267	0.12464	0.6076926	-0.569424329907104	0.20292	1.092621	0.087944261289388	0.16048	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.79	1.8	0.24069	0.813000	0.26883	0.948000	0.22902	0.469000	0.21855	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.6137:0.0:0.3863	9.299	0.36997	394	0.83065	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, 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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1050.33	34	chr3	136327686	.	C	T	1050.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.484;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.169;SOR=0.678	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1064,0,1318	18	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,24:119:99:.:.:650,0,2186:.	8	0	10	1
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2692	7167.82	34	chr3	157381267	.	G	C	7167.82	.	AC=7;AF=0.269;AN=26;BaseQRankSum=-5.676;DP=3389;ExcessHet=2.9153;FS=97.701;InbreedingCoeff=-0.3571;MLEAC=9;MLEAF=0.346;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=1.58;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,40:238:99:0|1:157381266_G_C:996,0,8114:157381266	6	0	7	6
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L,VEPH1:NM_001167912:exon7:c.C1014G:p.F338L,VEPH1:NM_024621:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	7212.82	34	chr3	157381269	.	G	C	7212.82	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-7.275;DP=3440;ExcessHet=2.9153;FS=99.936;InbreedingCoeff=-0.2881;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.39;ReadPosRankSum=1.67;SOR=11.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:199,41:240:99:0|1:157381266_G_C:1000,0,8154:157381266	9	0	7	3
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_001167912:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_024621:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5885.78	34	chr3	157381271	.	AGGTG	A	5885.78	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.455;DP=3692;ExcessHet=2.0135;FS=95.914;InbreedingCoeff=-0.1875;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.27;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:198,31:239:99:.:.:887,0,8103:.	17	0	2	0
chr3	157381272	157381272	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	1091.63	209	chr3	157381272	.	G	*	1091.63	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.892;DP=3520;ExcessHet=2.9153;FS=103.783;InbreedingCoeff=-0.418;MLEAC=8;MLEAF=0.364;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.932;SOR=11.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,41:225:99:1|0:157381266_G_C:1020,0,7974:157381266	5	0	6	8
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_001167912:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_024621:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	1702.6	48	chr3	157381275	.	G	GCCCC	1702.6	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.075;DP=3134;ExcessHet=2.9153;FS=96.253;InbreedingCoeff=-0.2905;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.952;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:191,31:232:99:.:.:908,0,7810:.	15	0	2	2
chr3	160226077	160226077	G	C	exonic	C3orf80	.	nonsynonymous SNV	C3orf80:NM_001168214:exon1:c.G442C:p.E148Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.203777019055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.177	0.29740	T	.	.	.	.	.	.	0.016459	0.27975	U	0.227351	0.768599	0.29462	N	0.55	0.14455	N	.	.	.	-0.77	0.21429	N	0.072	0.04547	-0.9706	0.37073	T	0.082	0.32382	T	7	0.109375566	0.20402	T	0.203777	0.86894	D	0.051	0.14325	0.164	0.06842	0.0666544352282	0.05500	0.14887449473041728	0.14809	.	.	.	.	.	0.015197	0.12791	T	-0.164732	0.26033	T	-0.474402	0.25042	T	0.399537265300751	0.28925	T	0.550545	0.18982	T	0.20150469	0.42163	0.122778654	0.29613	0.20150469	0.42163	0.122778654	0.29613	-4.266	0.27697	T	.	.	0.240	0.47426	B	.	.	3.064445	0.41164	21.3	0.99401699628509699	0.62841	0.56202	0.30057	D	AEFDGBHCI	0.268692	0.38513	N	-0.119265612680299	0.36553	2.114487	-0.105881107087998	0.35153	2.030331	0.999997889056431	0.74766	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.37	3.37	0.37692	1.319000	0.33260	8.898000	0.78364	0.479000	0.22080	0.022000	0.19841	1.000000	0.68203	0.090000	0.17789	0.0:0.0:1.0:0.0	13.645	0.61748	353	0.85335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	919.33	34	chr3	160226077	.	G	C	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.607;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.025;SOR=0.69	GT:AD:DP:GQ:PL	0/1:31,37:68:99:933,0,692	18	0	1	0
chr3	184358977	184358977	C	T	exonic	CLCN2	.	nonsynonymous SNV	CLCN2:NM_001171087:exon2:c.G218A:p.R73H,CLCN2:NM_001171088:exon2:c.G218A:p.R73H,CLCN2:NM_001171089:exon2:c.G218A:p.R73H,CLCN2:NM_004366:exon2:c.G218A:p.R73H	Leukoencephalopathy with ataxia, Autosomal recessive	1	1512	9	0	0	9	0.00296736	0.0001	0.016	.	214444	Leukoencephalopathy_with_mild_cerebellar_ataxia_and_white_matter_edema|not_provided|CLCN2-related_disorder|not_specified	MONDO:MONDO:0014292,MedGen:C4554120,OMIM:615651,Orphanet:363540|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.476	0.112669331794	0.0018	0.000798722	0.0026	0.0003	0.0009	0	0.0091	0.0031	0.0022	0.0024	0.0022962	355	154602	rs144412275	0.0021	0.0021	0.0020	0.0022	0.0049	0.0020	0.0020	0.0035	0.0030	0.0003	0.0008	0.0002	0	0.0091	0.0049	0.0020	0.0016	0.0019	0.0020	0.0020	0.0018	0.0022	0.0026	0.0018	0.0017	0.0023	0.0022	0.0003	0	0.0005	0	0	0.0090	0.0034	0.0026	0.0019	0.0017	0.166	0.52492	T	0.141	0.65728	T	0.002	0.12183	B	0.001	0.08700	B	0.001226	0.39743	N	0.166139	1	0.81001	D	1.295	0.32453	L	-1.92	0.84773	D	-1.09	0.30346	N	0.736	0.73645	-0.3825	0.72573	T	0.462	0.79140	T	10	0.008010447	0.00221	T	0.112669	0.79089	D	0.476	0.76816	.	.	0.795139984237	0.79323	0.4061443546484251	0.40530	0.355573427921	0.37314	0.403641432524	0.25576	T	0.199539	0.55684	T	-0.194094	0.21658	T	-0.052417	0.66857	D	0.0230246977345587	0.01026	T	0.850615	0.53448	D	0.038138475	0.05025	0.029830104	0.01366	0.051851172	0.09585	0.036840748	0.03211	-8.256	0.62801	D	0.16337366042337542	0.20126	0.105	0.24901	B	.;.;.;.;.	.;.;.;.;.	1.654789	0.21106	15.05	0.99050560948796329	0.51253	0.47293	0.27950	N	AEFBI	0.253923	0.37334	N	-0.642938217995712	0.17667	0.9110069	-0.581937714042541	0.19964	1.073512	0.999992531837411	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.567892	0.33627	0	.	.	4.6	3.73	0.41982	-0.337000	0.07898	0.390000	0.17879	-0.177000	0.10537	0.000000	0.06391	0.992000	0.31684	0.881000	0.42162	0.0:0.9126:0.0:0.0874	11.024	0.46949	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	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1180.33	43	chr3	184358977	.	C	T	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=713;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=-1.157;SOR=0.416	GT:AD:DP:GQ:PL	0/1:30,39:69:99:1194,0,778	18	0	1	0
chr3	190440295	190440296	GA	-	exonic	TMEM207	.	frameshift deletion	TMEM207:NM_207316:exon4:c.252_253del:p.H85Qfs*36	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0002	0	0.0003	0	0	3.011e-05	0	0.0009	0.0001617	25	154602	rs546277645	0.0001	0.0001	7.623e-05	0.0001	0.0009	9.266e-05	8.731e-05	0.0007	0.0007	5.974e-05	0.0003	0	0	0	0.0005	3.597e-05	0.0003	0.0009	0.0001	0.0001	8.999e-05	0.0002	0.0010	9.745e-05	8.259e-05	0.0005	0.0004	0	0	0.0009	0	0	0	0	5.882e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1753.29	34	chr3	190440294	.	TGA	T	1753.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=1.52;SOR=0.65	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1767,0,1667	18	0	1	0
chr3	193270625	193270625	G	A	exonic	PLAAT1	.	nonsynonymous SNV	PLAAT1:NM_020386:exon4:c.G427A:p.V143I,PLAAT1:NM_001366112:exon5:c.G427A:p.V143I	.	.	.	.	.	.	.	.	.	.	.	3376135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.135	0.00473275536475	0.0003	0.000199681	3.297e-05	0.0003	0	0	0	1.499e-05	0	0	3.23e-05	5	154602	rs147242865	6.57e-05	6.567e-05	6.809e-05	6.328e-05	0.0002	5.497e-05	5.109e-05	9.753e-05	6.953e-05	0.0002	2.237e-05	0	2.52e-05	5.619e-05	0.0002	6.568e-05	0.0001	3.481e-05	9.851e-05	9.843e-05	0.0001	6.715e-05	0.0003	6.003e-05	4.877e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	4.411e-05	0	0.0002	.	.	.	0.333	0.18395	T	.	.	.	.	.	.	0.000000	0.84330	N	0.052987	0.99752	0.22627	N	.	.	.	0.83	0.47815	T	.	.	.	0.07	0.04307	-0.9849	0.33856	T	0.020	0.08453	T	9	0.021992981	0.00539	T	0.004733	0.11784	T	0.135	0.36572	.	.	0.0401082797425	0.02173	.	.	0.150424504173	0.16965	0.237670361996	0.02584	T	.	.	.	-0.503005	0.00550	T	-0.654331	0.08653	T	0.0522275529801846	0.05885	T	0.632437	0.24680	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.301663	0.17036	12.92	0.78644034708307187	0.12390	0.18414	0.20250	N	AEFDI	0.033565	0.04007	N	-0.868620849384523	0.11594	0.5603816	-0.621088340906734	0.18951	1.01471	8.36505298874182E-6	0.01202	0.693126	0.56070	0	0.547309	0.14657	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.64	1.86	0.24489	1.865000	0.39117	0.915000	0.22659	-0.116000	0.14526	1.000000	0.71638	0.980000	0.30356	0.986000	0.61781	0.6456:0.1421:0.0762:0.1361	3.356	0.06752	633	0.64743	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1347.33	33	chr3	193270625	.	G	A	1347.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.631;DP=745;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.691;SOR=0.839	GT:AD:DP:GQ:PL	0/1:49,55:104:99:1361,0,1106	18	0	1	0
chr3	193491351	193491351	A	G	exonic	ATP13A4	.	nonsynonymous SNV	ATP13A4:NM_032279:exon6:c.T581C:p.I194T	.	425	1090	7	0	0	7	0.00320073	.	.	.	2221503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.765	0.112315977974	0.0002	0.000998403	0.0003	0	0.0006	0	0	0.0004	0.0011	0.0005	0.0003234	50	154602	rs181256207	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0027	0.0023	0.0001	0.0005	0.0002	0	0	0.0040	0.0002	0.0005	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	2.405e-05	0	0.0004	0.0003	0	0	0	0.0002	0.0014	0.0002	0.003	0.72154	D	0.006	0.70582	D	0.997	0.70673	D	0.981	0.75168	D	0.000284	0.46274	D	0.092754	0.998681	0.45275	D	1.455	0.36767	L	-2.46	0.88924	D	-3.72	0.73893	D	0.694	0.70790	0.459	0.89969	D	0.755	0.91637	D	10	0.30752397	0.48254	T	0.112316	0.79042	D	0.765	0.92046	.	.	0.836976481537	0.83542	0.7168744031805802	0.71630	0.51541283519	0.49451	0.636393368244	0.58052	T	0.079068	0.55367	T	-0.0020792	0.51368	T	0.138732	0.79462	D	0.116427307145898	0.14077	T	0.834417	0.50357	T	0.5770476	0.71447	0.6349355	0.78690	0.5770476	0.71448	0.6349355	0.78690	-6.986	0.58799	T	.	.	0.374	0.61088	A	.;.;.	.;.;.	4.566939	0.72014	25.8	0.99852582952964841	0.93191	0.97183	0.73178	D	AEFBI	0.582393	0.58203	D	0.643394905218938	0.75943	6.395983	0.657112627506573	0.79140	7.02017	0.973810322345497	0.29488	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	7.259000	0.77791	11.100000	0.86102	0.691000	0.84096	0.993000	0.37899	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	14.996	0.71084	929	0.16858	Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, N-terminal;Cation-transporting P-type ATPase, N-terminal|Cation-transporting P-type ATPase, 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	0.002518	0.000000	0.001359	0.002924	0.000000	0.008621	0.012195	0.000000	0.02632	1276.33	51	chr3	193491351	.	A	G	1276.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.685;DP=740;ExcessHet=0;FS=3.938;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.739;SOR=0.844	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1290,0,1080	18	0	1	0
chr3	195519067	195519067	C	T	exonic	PPP1R2	.	nonsynonymous SNV	PPP1R2:NM_001291505:exon4:c.G444A:p.M148I,PPP1R2:NM_001291504:exon5:c.G525A:p.M175I,PPP1R2:NM_006241:exon5:c.G522A:p.M174I,PPP1R2:NM_001316325:exon6:c.G462A:p.M154I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0119141706426	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs750466168	1.031e-05	1.026e-05	1.232e-05	8.289e-06	1.356e-05	6.19e-06	4.91e-06	8.14e-06	6.46e-06	0	0	0	0	0	0	1.356e-05	0	0	6.57e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.037	0.43085	D	0.1	0.38742	T	0.963	0.55692	D	0.966	0.71341	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.85	0.49092	L	.	.	.	-1.76	0.41618	N	0.512	0.54322	-0.2207	0.77133	T	0.448	0.78336	T	9	0.30541712	0.48059	T	0.011914	0.29998	T	0.243	0.54921	0.286	0.24440	0.586694575381	0.58343	0.19270543897747536	0.19188	.	.	0.546733617783	0.45396	T	0.11888	0.44001	T	0.038619	0.56864	T	-0.182303	0.56309	T	0.638266205787659	0.37964	D	0.761924	0.38711	T	0.43053976	0.62787	0.3439525	0.60099	0.43053976	0.62788	0.3439525	0.60098	-3.671	0.18891	T	.	.	0.403	0.59716	A	.;.	.;.	3.260811	0.44598	22.0	0.98161923589725963	0.38781	0.98364	0.82028	D	AEFGBI	0.616247	0.60288	D	0.731932961389334	0.81726	7.590106	0.703213923354502	0.82624	7.812964	0.98695895552645	0.31157	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	6.295000	0.72726	7.566000	0.60594	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	16.936	0.86073	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	57.33	78	chr3	195519067	.	C	T	57.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.592;DP=1237;ExcessHet=0;FS=68.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.31;MQRankSum=-1.581;QD=0.47;ReadPosRankSum=0.885;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,19:121:71:0|1:195519067_C_T:71,0,3651:195519067	18	0	1	0
chr3	195519068	195519068	A	G	exonic	PPP1R2	.	nonsynonymous SNV	PPP1R2:NM_001291505:exon4:c.T443C:p.M148T,PPP1R2:NM_001291504:exon5:c.T524C:p.M175T,PPP1R2:NM_006241:exon5:c.T521C:p.M174T,PPP1R2:NM_001316325:exon6:c.T461C:p.M154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0133850550382	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	3.84e-05	1	26028	rs758930365	1.394e-06	2.741e-06	0	2.796e-06	2.341e-05	2.3e-07	9e-08	3.89e-06	1.46e-06	0	0	0	0	0	0	0	0	2.341e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.16793	T	1.0	0.01155	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.545	0.74286	M	.	.	.	-1.14	0.29323	N	0.675	0.68255	-0.3584	0.73310	T	0.406	0.75557	T	9	0.33047637	0.50285	T	0.013385	0.32738	T	0.225	0.52323	0.282	0.23801	0.63470690541	0.63171	0.316806076815987	0.31593	.	.	0.631590008736	0.57371	T	0.166075	0.51217	T	0.0330966	0.56136	T	-0.00808859	0.69810	D	0.4387147128582	0.30382	T	0.646635	0.25786	T	0.24516653	0.47472	0.21074143	0.45473	0.24516653	0.47472	0.21074143	0.45472	-3.2	0.12480	T	.	.	0.342	0.56051	A	.;.	.;.	3.000912	0.40094	21.1	0.87394221429255625	0.17196	0.98867	0.87911	D	AEFGBI	0.803324	0.72850	D	0.637927365369088	0.75590	6.33285	0.617386050681991	0.76201	6.447751	0.809762738365655	0.24334	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.412000	0.79304	11.032000	0.85074	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	1.0:0.0:0.0:0.0	13.590	0.61421	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	150.95	78	chr3	195519068	.	A	G	150.95	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.591;DP=1462;ExcessHet=0.7564;FS=117.019;InbreedingCoeff=-0.1348;MLEAC=4;MLEAF=0.111;MQ=56.47;MQRankSum=-1.328;QD=0.37;ReadPosRankSum=0.956;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,19:122:68:0|1:195519067_C_T:68,0,3658:195519067	14	0	4	1
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	.	.	.	.	.	.	.	.	0.05556	70.63	118	chr3	195725046	.	G	T	70.63	.	AC=2;AF=0.056;AN=36;BaseQRankSum=4.08;DP=2187;ExcessHet=0.119;FS=79.84;InbreedingCoeff=-0.0722;MLEAC=2;MLEAF=0.056;MQ=37.31;MQRankSum=-3.837;QD=0.18;ReadPosRankSum=-4.28;SOR=6.592	GT:AD:DP:GQ:PL	0/1:193,22:215:51:51,0,4542	16	0	2	1
chr3	195779003	195779003	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12577G:p.L4193V,MUC4:NM_001322468:exon18:c.C10465G:p.L3489V	.	416	975	14	0	117	131	0.00712831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00625251064453	.	.	0.0005	0	0	0	0	0.0011	0	0	7.12e-05	11	154602	rs761201303	2.447e-06	0.0010	3.184e-06	1.673e-06	2.047e-06	6.5e-07	1.8e-07	3.4e-07	1.3e-07	0	0	0	0	3.193e-05	0	2.047e-06	0	0	0.0002	0.0029	0.0002	0.0002	0.0002	0.0001	9.191e-05	0.0001	9.55e-05	7.375e-05	0	0	0.0009	0	0.0002	0	0.0002	0.0005	0.0002	0.196	0.20683	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.22725	N	.	.	.	1.42	0.33842	T	-0.1	0.08495	N	0.024	0.00770	-1.0638	0.10831	T	0.065	0.26913	T	7	0.030462623	0.01173	T	0.006253	0.16406	T	0.054	0.15330	.	.	0.0297737177859	0.01360	0.0020913656908392295	0.00194	.	.	0.507066369057	0.39812	T	.	.	.	-0.388518	0.02750	T	-0.795856	0.02008	T	0.0925729423398809	0.11519	T	0.766023	0.39401	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22609	B	.;.	.;.	1.023270	0.14027	10.60	0.27562330860588846	0.01374	0.00134	0.00826	N	AEFBI	0.057100	0.10609	N	-0.790410142405561	0.13559	0.6688327	-1.01661514034547	0.09420	0.4685524	1.17130386014526E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-2.194000	0.01328	-3.644000	0.02635	0.148000	0.17689	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	1.0E-4:1.0E-4:0.5468:0.453	3.388	0.06856	597	0.68309	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006881	0.027174	0.000000	0.004132	0.050000	0.010204	0.010204	0.000000	0.04167	179.08	626	chr3	195779003	.	G	C	179.08	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.922;DP=6923;ExcessHet=1.0667;FS=2.275;InbreedingCoeff=0.0952;MLEAC=1;MLEAF=0.042;MQ=51.13;MQRankSum=-4.332;QD=0.07;ReadPosRankSum=-1.613;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:498,42:540:99:0|1:195778978_G_A:189,0,20656:195778978	11	0	1	7
chr3	195779136	195779136	G	0	exonic	MUC4	.	.	.	.	440	961	82	1	38	122	0.0418744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	925.03	388	chr3	195779136	.	G	*	925.03	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.75;DP=5790;ExcessHet=1.383;FS=4.45;InbreedingCoeff=-0.0826;MLEAC=1;MLEAF=0.029;MQ=48.69;MQRankSum=-3.878;QD=0.55;ReadPosRankSum=-5.297;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,192:271:99:.:.:2793,0,2941:.	16	0	1	2
chr3	195779162	195779162	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	310.43	388	chr3	195779162	.	C	*	310.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.642;DP=5788;ExcessHet=0.119;FS=22.886;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=48.82;MQRankSum=1.34;QD=0.83;ReadPosRankSum=3.17;SOR=0.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,192:271:99:.:.:2793,0,2941:.	18	0	1	0
chr3	195779166	195779166	G	0	exonic	MUC4	.	.	.	.	685	574	152	54	57	317	0.184659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	14308.8	600	chr3	195779166	.	G	*	14308.8	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.82;DP=6613;ExcessHet=0.0027;FS=30.185;InbreedingCoeff=0.2692;MLEAC=2;MLEAF=0.1;MQ=50.73;MQRankSum=2.08;QD=17.45;ReadPosRankSum=1.67;SOR=0.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,184:262:99:0|1:195779166_G_*:6027,3027,2792:195779166	9	0	1	9
chr3	195779220	195779220	A	0	exonic	MUC4	.	.	.	.	729	613	71	27	82	207	0.0925241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2843.92	500	chr3	195779220	.	A	*	2843.92	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=5325;ExcessHet=0;FS=4.787;InbreedingCoeff=0.2311;MLEAC=2;MLEAF=0.143;MQ=56.61;MQRankSum=3.11;QD=9.29;ReadPosRankSum=1.67;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,181:257:99:0|1:195779166_G_*:5921,2924,2720:195779166	6	0	1	12
chr3	195779228	195779228	T	0	exonic	MUC4	.	.	.	.	740	633	67	26	56	175	0.0859206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2307.89	476	chr3	195779228	.	T	*	2307.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.57;DP=5021;ExcessHet=0;FS=2.92;InbreedingCoeff=0.2615;MLEAC=2;MLEAF=0.167;MQ=57.3;MQRankSum=3.12;QD=9.34;ReadPosRankSum=-1.692;SOR=0.185	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,181:247:99:0|1:195779166_G_*:5526,2524,2300:195779166	5	0	1	13
chr3	195779707	195779710	GTGT	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.11870_11873del:p.D3957Vfs*301,MUC4:NM_001322468:exon16:c.10142_10145del:p.G3381Afs*119	.	461	1029	13	7	12	39	0.0129496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0013	0	0	0	0.0006	0	0.0003	0.0002689	7	26028	rs752130891	0.0048	0.0054	0.0044	0.0052	0.0096	0.0047	0.0047	0.0071	0.0062	0.0015	0.0067	0.0126	2.965e-05	0.0058	0.0096	0.0049	0.0069	0.0018	0.0016	0.0084	0.0016	0.0017	0.0025	0.0014	0.0013	0.0021	0.0020	0.0005	0	0.0025	0.0015	0	0.0008	0	0.0025	0.0025	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2592.42	203	chr3	195779706	.	AGTGT	A	2592.42	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.58;DP=2795;ExcessHet=0;FS=0;InbreedingCoeff=0.9991;MLEAC=2;MLEAF=0.053;MQ=53.8;MQRankSum=1.79;QD=27.58;ReadPosRankSum=4.4;SOR=0.815	GT:AD:DP:GQ:PL	1/1:10,84:95:99:7537,176,0	18	1	0	0
chr3	195780528	195780528	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	946.81	579	chr3	195780528	.	C	*	946.81	.	AC=11;AF=0.5;AN=22;BaseQRankSum=2.37;DP=6994;ExcessHet=0.0015;FS=0.606;InbreedingCoeff=0.4909;MLEAC=16;MLEAF=0.727;MQ=53.39;MQRankSum=3.61;QD=0.39;ReadPosRankSum=0.587;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:6,0:7:99:1|1:195780452_T_C:15320,861,0:195780452	4	4	3	8
chr3	195781486	195781486	-	CGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.10093_10094insACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCG:p.T3364_G3365insDTSSASTGHATPLPVT,MUC4:NM_001322468:exon12:c.8893_8894insACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCG:p.G2965_A4615delinsDTSSASTGHATPLPVTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	419	1084	11	6	2	25	0.0104975	.	.	.	3185992	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.0008	0.0115	0	0.0005	0.0085	0.0037	0.0046	0.0001537	4	26028	rs780551832	0.0069	0.0087	0.0067	0.0070	0.0137	0.0067	0.0067	0.0109	0.0100	0.0042	0.0113	0.0123	0.0005	0.0034	0.0137	0.0072	0.0094	0.0030	0.0034	0.0072	0.0037	0.0032	0.0053	0.0032	0.0031	0.0048	0.0046	0.0010	0	0.0044	0.0064	0	0.0007	0	0.0053	0.0059	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	5503.77	679	chr3	195781486	.	C	CCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT	5503.77	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.6;DP=9342;ExcessHet=0;FS=1.338;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=53.52;MQRankSum=1.92;QD=31.55;ReadPosRankSum=-0.159;SOR=0.712	GT:AD:DP:GQ:PL	1/1:9,147:156:99:5531,170,0	18	1	0	0
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	58698.1	630	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	58698.1	.	AC=7;AF=0.206;AN=34;BaseQRankSum=0.997;DP=7467;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.2599;MLEAC=7;MLEAF=0.206;MQ=54.21;MQRankSum=-0.328;QD=11.66;ReadPosRankSum=0.523;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:5756,396,0:.	11	1	5	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:5756,396,0:.	5	5	8	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	5142.35	626	chr3	195781639	.	A	*	5142.35	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.999;DP=5165;ExcessHet=0.0045;FS=0.658;InbreedingCoeff=0.4524;MLEAC=11;MLEAF=0.55;MQ=54.5;MQRankSum=-1.273;QD=3.6;ReadPosRankSum=2.35;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:5756,396,0:.	5	2	3	9
chr3	195781645	195781645	G	0	exonic	MUC4	.	.	.	.	536	587	364	31	4	430	0.26625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	11129.9	626	chr3	195781645	.	G	*	11129.9	.	AC=5;AF=0.313;AN=16;DP=5120;ExcessHet=0;FS=0;InbreedingCoeff=0.4965;MLEAC=9;MLEAF=0.563;MQ=59.87;QD=13.51;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:5756,396,0:.	5	2	1	11
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	4726.44	626	chr3	195781647	.	A	*	4726.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.821;DP=4938;ExcessHet=0.0072;FS=3.612;InbreedingCoeff=0.475;MLEAC=11;MLEAF=0.55;MQ=54.6;MQRankSum=-3.859;QD=4.23;ReadPosRankSum=-5.711;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:5756,396,0:.	5	2	3	9
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	3832.91	626	chr3	195781666	.	A	*	3832.91	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.147;DP=4792;ExcessHet=0.0045;FS=1.45;InbreedingCoeff=0.5048;MLEAC=11;MLEAF=0.5;MQ=53.13;MQRankSum=-8.387;QD=2.81;ReadPosRankSum=-3.179;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:5756,396,0:.	6	2	3	8
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,32:33:52:.:.:1325,52,0:.	7	1	10	1
chr3	195783223	195783271	TGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAG	0	exonic	MUC4	.	.	.	.	485	951	12	3	71	89	0.009375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	249.25	466	chr3	195783223	.	TGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTTGGTGACAG	*	249.25	.	AC=2;AF=0.059;AN=34;BaseQRankSum=2.18;DP=4859;ExcessHet=0;FS=18.036;InbreedingCoeff=0.5379;MLEAC=2;MLEAF=0.059;MQ=40.74;MQRankSum=-2.261;QD=1.07;ReadPosRankSum=-2.324;SOR=0.198	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:21,160:181:25:.:.:5941,25,0:.	16	1	0	2
chr3	195783456	195783599	GGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7981_8124del:p.S2661_T2708del	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0246	0.0067	0.0367	0.0512	0.0233	0.0302	0.0205	0.0203	.	.	.	.	0.0078	0.0085	0.0073	0.0084	0.0160	0.0077	0.0076	0.0125	0.0120	0.0045	0.0137	0.0177	0.0116	0.0067	0.0160	0.0069	0.0107	0.0117	0.0011	0.0014	0.0007	0.0015	0.0043	0.0005	0.0003	0.0006	0.0004	0	0	0	0	0.0043	0	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	94.35	36	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C	94.35	.	AC=2;AF=0.067;AN=30;DP=689;ExcessHet=0;FS=19.759;InbreedingCoeff=0.845;MLEAC=1;MLEAF=0.033;MQ=40.85;MQRankSum=-0.319;QD=2.14;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,3:4:3:.:.:109,3,0:.	14	1	0	4
chr3	195783456	195783456	G	0	exonic	MUC4	.	.	.	.	569	867	12	11	63	97	0.0192308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1197.96	36	chr3	195783456	.	G	*	1197.96	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-0.467;DP=690;ExcessHet=0;FS=14.412;InbreedingCoeff=0.9713;MLEAC=4;MLEAF=0.125;MQ=43.21;MQRankSum=0.153;QD=14.26;ReadPosRankSum=-0.867;SOR=4.22	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,3:4:3:.:.:109,3,0:.	14	2	0	3
chr3	195783496	195783496	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	487.82	36	chr3	195783496	.	G	*	487.82	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.65;DP=523;ExcessHet=0;FS=11.335;InbreedingCoeff=0.6512;MLEAC=1;MLEAF=0.031;MQ=48.7;MQRankSum=0;QD=28.7;ReadPosRankSum=-1.645;SOR=2.368	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,3:4:3:.:.:109,3,0:.	15	1	0	3
chr3	195783502	195783549	TCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	68.21	31	chr3	195783502	.	TCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGG	*	68.21	.	AC=2;AF=0.067;AN=30;BaseQRankSum=0.967;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=0.5797;MLEAC=1;MLEAF=0.033;MQ=49.36;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.967;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,3:4:3:.:.:109,3,0:.	14	1	0	4
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	31151.9	578	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	31151.9	.	AC=3;AF=0.083;AN=36;BaseQRankSum=2.24;DP=9366;ExcessHet=0;FS=0;InbreedingCoeff=0.528;MLEAC=3;MLEAF=0.083;MQ=54.47;MQRankSum=-0.353;QD=33.42;ReadPosRankSum=-3.38;SOR=0.747	GT:AD:DP:GQ:PL	0/1:260,111:372:99:8270,0,10020	16	1	1	1
chr3	195785732	195785732	-	GTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.H1949_T1950insATSLPVTDASSVSTGHATSVPVTIPSSASSGD,MUC4:NM_001322468:exon6:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.S1950_A4615delinsATSLPVTDASSVSTGHATSVPVTIPSSASSGDSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	425	1062	9	0	26	35	0.00421941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0006	0	0	.	.	.	.	0.0015	0.0025	0.0014	0.0016	0.0094	0.0014	0.0014	0.0069	0.0060	0.0012	0.0012	0.0025	0	0.0033	0.0094	0.0014	0.0019	0.0016	0.0001	0.0002	3.884e-05	0.0003	0.0002	9.084e-05	7.337e-05	0.0001	7.695e-05	0.0002	0	9.632e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	22762.9	1058	chr3	195785732	.	T	TGTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	22762.9	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.304;DP=13211;ExcessHet=0.0101;FS=0.518;InbreedingCoeff=0.3698;MLEAC=4;MLEAF=0.111;MQ=52.52;MQRankSum=-14.42;QD=22.16;ReadPosRankSum=-11.01;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,148:354:99:0|1:195785732_T_TGTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC:5024,0,7921:195785732	15	1	2	1
chr3	195788016	195788016	-	GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.S1189_P1190insLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTS,MUC4:NM_001322468:exon4:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.G1189_A4615delinsSLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTGHTTPLPVTDTSSASTGHATSLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	584	914	19	4	1	28	0.0145553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0621	0.0037	0	0.0008	0.0019	0	0	.	.	.	.	0.0004	0.0015	0.0005	0.0003	0.0049	0.0003	0.0003	0.0038	0.0034	0.0049	0.0004	0.0012	0	0.0002	0.0013	0.0003	0.0010	7.675e-05	2.706e-05	0.0006	0	5.548e-05	.	0	0	.	.	0	0	0	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	9934.29	76	chr3	195788016	.	A	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	9934.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.528;DP=1129;ExcessHet=0;FS=10.747;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=38.75;MQRankSum=0.506;QD=30.38;ReadPosRankSum=-7.767;SOR=2.31	GT:AD:DP:GQ:PL	1/1:3,68:71:99:2878,131,0	16	2	1	0
chr3	195788539	195788539	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3041T:p.P1014L,MUC4:NM_001322468:exon4:c.C3041T:p.P1014L	.	470	1039	8	0	5	13	0.00383509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.000199681	0.0016	0.0138	0.0018	0	0	8.806e-05	0	0.0001	7.68e-05	2	26028	rs201510137	0.0002	0.0009	0.0002	0.0002	0.0051	0.0002	0.0002	0.0038	0.0036	0.0045	0.0002	0.0002	5.832e-05	2.052e-05	0.0051	7.068e-05	0.0006	0.0001	0.0003	0.0029	0.0004	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0	0	0	0	0	0.0002	0.0005	0	0.014	0.53172	D	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.82	0.25344	T	-0.33	0.12472	N	0.067	0.03956	-0.9977	0.30563	T	0.028	0.12147	T	8	0.0065782964	0.00149	T	.	.	.	0.059	0.16972	.	.	0.16115917748	0.15686	0.0017282372830762552	0.00159	.	.	0.449976801872	0.31940	T	.	.	.	-0.311002	0.07661	T	-0.684509	0.06712	T	0.0140130451045321	0.00270	T	0.687331	0.29630	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10787	B	.;.	.;.	1.275146	0.16744	12.74	0.87154692688318536	0.17026	0.00565	0.02569	N	AEFDBI	0.052069	0.09259	N	-1.1259136392453	0.06185	0.2840592	-1.19450581767164	0.06001	0.2875632	4.21802555500006E-5	0.03989	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	1.01	1.01	0.19044	4.418000	0.59580	-5.828000	0.01583	0.177000	0.17786	0.136000	0.23442	0.000000	0.08366	0.001000	0.02609	0.2757:0.0:0.7242:0.0	3.382	0.06835	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017429	0.015152	0.014205	0.036885	0.000000	0.037037	0.000000	0.011538	0.02941	8374.57	594	chr3	195788539	.	G	A	8374.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.14;DP=7052;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.029;MQ=56.57;MQRankSum=1.39;QD=11.32;ReadPosRankSum=1.26;SOR=0.692	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,216:405:99:0|1:195788530_A_G:8395,0,7250:195788530	16	0	1	2
chr3	195788563	195788563	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3017T:p.A1006V,MUC4:NM_001322468:exon3:c.C3017T:p.A1006V	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.000868104877413	.	.	0.0002	0.0008	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs773615692	4.353e-05	5.983e-05	3.439e-05	5.291e-05	0.0033	3.441e-05	3.096e-05	0.0021	0.0017	0	8.478e-05	4.025e-05	2.745e-05	0	0.0033	2.267e-05	0.0002	2.536e-05	8.596e-05	0.0002	7.757e-05	9.476e-05	0.0004	4.987e-05	3.986e-05	9.656e-05	7.028e-05	0.0002	0	0	0	0	0	0	4.428e-05	0	0.0004	0.04	0.42199	D	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.26	0.36512	T	-0.13	0.08971	N	0.039	0.03175	-1.0187	0.24139	T	0.040	0.17234	T	8	0.044014364	0.03312	T	8.68E-4	0.00777	T	0.020	0.03691	.	.	0.0846915920261	0.08053	9.431781503919801E-4	0.00087	.	.	0.485113561153	0.36762	T	.	.	.	-0.283248	0.10327	T	-0.644643	0.09334	T	0.226750567555428	0.21796	T	0.827017	0.49049	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.10979	B	.;.	.;.	0.193817	0.05794	2.238	0.98905515571889735	0.48272	0.01534	0.05046	N	AEFDBI	0.045594	0.07473	N	-1.12421361549723	0.06215	0.2854847	-1.16969711000549	0.06421	0.3090449	1.81805118737094E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	1.24	1.24	0.20416	0.208000	0.17212	-0.601000	0.08270	0.177000	0.17786	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	8.535	0.32521	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010256	0.005051	0.006887	0.034161	0.000000	0.026786	0.003067	0.000000	0.02632	7939.33	555	chr3	195788563	.	G	A	7939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.352;DP=6321;ExcessHet=0;FS=2.453;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=1.23;QD=18.51;ReadPosRankSum=2.53;SOR=0.888	GT:AD:DP:GQ:PL	0/1:216,213:429:99:7953,0,7784	18	0	1	0
chr3	196323857	196323857	T	C	exonic	TM4SF19	.	nonsynonymous SNV	TM4SF19:NM_001204898:exon4:c.A512G:p.N171S,TM4SF19:NM_001204897:exon5:c.A586G:p.T196A,TM4SF19:NM_138461:exon5:c.A590G:p.N197S	.	414	1102	6	0	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.010352409184	0.0050	0.00159744	0.0043	0.0010	0.0025	0	0.0074	0.0063	0.0088	0.0006	0.0010996	170	154602	rs146878860	0.0052	0.0052	0.0053	0.0050	0.0058	0.0051	0.0050	0.0057	0.0056	0.0007	0.0030	0.0010	2.519e-05	0.0111	0.0047	0.0058	0.0045	0.0005	0.0041	0.0041	0.0041	0.0042	0.0057	0.0039	0.0037	0.0052	0.0051	0.0012	0.0011	0.0039	0.0014	0	0.0105	0.0102	0.0057	0.0033	0.0004	0.042	0.41637	D	0.159	0.31527	T	0.905	0.49920	P	0.426	0.45295	B	0.000104	0.50451	D	0.131131	0.83	0.34903	D	3.015	0.86134	M	1.43	0.32958	T	-4.31	0.76576	D	0.399	0.43995	-1.0621	0.11239	T	0.036	0.15640	T	10	0.007756263	0.00176	T	0.010352	0.26785	T	0.163	0.42028	.	.	0.350746614512	0.34690	0.7582464465980078	0.75772	0.684078331255	0.60201	.	.	.	0.102279	0.40985	T	-0.358703	0.04203	T	-0.283183	0.46477	T	0.0553786780900558	0.06421	T	0.767423	0.39577	T	0.22617799	0.45293	0.2721572	0.53123	0.22617799	0.45294	0.2721572	0.53122	-6.234	0.49353	T	.	.	0.092	0.13783	B	.;.	.;.	3.049380	0.40908	21.3	0.99575208005561144	0.72682	0.66983	0.33269	D	ALL	0.203177	0.32971	N	-0.285027751350199	0.29726	1.651027	-0.154954215413627	0.33219	1.897888	0.999999988880403	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.440796	0.06475	0	0.584449	0.35598	0	.	.	5.31	2.95	0.33285	1.873000	0.39195	1.525000	0.27119	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1958:0.0:0.8042	6.214	0.19860	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.002717	0.005848	0.050000	0.000000	0.000000	0.007576	0.02632	1567.33	40	chr3	196323857	.	T	C	1567.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.422;DP=771;ExcessHet=0;FS=2.456;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.943;SOR=0.458	GT:AD:DP:GQ:PL	0/1:54,59:113:99:1581,0,1504	18	0	1	0
chr4	1717586	1717586	C	T	exonic	TMEM129	.	nonsynonymous SNV	TMEM129:NM_001127266:exon3:c.G770A:p.G257D	.	411	1107	3	1	0	5	0.00225327	.	.	.	4081744	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0262646137395	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374359483	2.647e-05	2.531e-05	2.118e-05	3.192e-05	0.0002	1.953e-05	1.705e-05	2.269e-05	2.002e-05	0	0	0	0	0	0.0002	3.153e-05	1.726e-05	1.264e-05	6.569e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.122	0.27663	T	0.259	0.23097	T	0.801	0.45051	P	0.438	0.45631	B	0.000052	0.53742	D	0.120057	0.898469	0.81001	D	1.355	0.33814	L	0.97	0.42502	T	-0.07	0.08033	N	0.402	0.44283	-0.9345	0.43470	T	0.108	0.39123	T	10	0.31940585	0.49328	T	0.026265	0.49189	D	0.107	0.30369	.	.	0.398581233421	0.39469	0.5760042671478229	0.57529	0.299086279298	0.32277	0.795669794083	0.81305	T	0.006	0.05539	T	-0.217586	0.18324	T	-0.35268	0.38899	T	0.19137637405995	0.19925	T	0.882712	0.60367	D	0.16556111	0.36836	0.20773889	0.45046	0.16556111	0.36836	0.20773889	0.45045	-7.637	0.58569	D	.	.	0.267	0.50129	B	.;.	.;.	4.632293	0.73669	26.0	0.93443945152622077	0.23222	0.95919	0.66721	D	AEFDBCI	0.770020	0.70510	D	0.221580393251775	0.52247	3.399962	0.258963564400487	0.53161	3.486421	0.999999999834917	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.69	3.82	0.43153	5.493000	0.66618	5.754000	0.49644	0.594000	0.32500	0.991000	0.37257	0.922000	0.28345	0.960000	0.51673	0.1541:0.8459:0.0:0.0	13.858	0.63040	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	.	.	.	.	.	.	.	.	0.02632	1065.33	39	chr4	1717586	.	C	T	1065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.898;DP=778;ExcessHet=0;FS=0.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.862;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,44:92:99:1|0:1717567_T_C:1079,0,1784:1717567	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:86,51:137:99:587,0,2008	1	0	18	0
chr4	9243884	9243884	G	C	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.G6C:p.E2D	.	490	1019	13	0	0	13	0.00633837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.785207235613	.	.	0.0034	0	0.0099	0	0	0.0046	0	0	0.0004657	72	154602	rs746198002	0.0020	0.0075	0.0020	0.0019	0.0022	0.0019	0.0019	0.0021	0.0021	0.0004	0.0018	0.0038	0	0.0027	0.0019	0.0022	0.0015	0.0005	0.0003	0.0015	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	9.674e-05	0	0.0003	0	0	0.0002	0	0.0004	0	0	0.123	0.27544	T	0.315	0.22627	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.69	0.12268	T	0.15	0.05310	N	0.15	0.15328	-0.9454	0.41748	T	0.021	0.08963	T	6	0.03258398	0.01413	T	0.785207	0.98310	D	0.018	0.03083	0.246	0.18139	0.0401082797425	0.02173	0.020831925818852563	0.02036	.	.	0.541121840477	0.44603	T	0.00744	0.06846	T	-0.62805	0.00098	T	-0.66782	0.07749	T	0.00538380027744191	0.00058	T	0.390461	0.09684	T	0.08194392	0.18854	0.09321036	0.22005	0.08194392	0.18853	0.09321036	0.22004	-3.994	0.23714	T	.	.	0.121	0.25133	B	.;.	.;.	0.735441	0.11045	7.701	0.96409607182053592	0.29720	0.01105	0.04049	N	AEFI	0.030943	0.03210	N	-0.870095447995878	0.11559	0.558448	-1.05359465695228	0.08632	0.4253761	1.14241020842926E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.094000	0.14946	.	.	0.304000	0.19002	0.121000	0.23193	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009499	0.021277	0.016194	0.000000	0.000000	0.000000	0.000000	0.005495	0.05263	268.83	629	chr4	9243884	.	G	C	268.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.67;DP=9206;ExcessHet=0.119;FS=2.95;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=35.01;MQRankSum=0.925;QD=0.22;ReadPosRankSum=-0.137;SOR=0.37	GT:AD:DP:GQ:PL	0/1:710,109:819:99:247,0,16202	17	0	2	0
chr4	10087915	10087915	T	C	exonic	WDR1	.	nonsynonymous SNV	WDR1:NM_005112:exon5:c.A323G:p.H108R,WDR1:NM_017491:exon8:c.A743G:p.H248R	.	425	1049	46	2	0	50	0.0232775	.	.	.	1154593	Lazy_leukocyte_syndrome|not_provided	MONDO:MONDO:0007883,MedGen:C0272174,OMIM:150550,Orphanet:652522|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0048	0.00678914	0.0124	0.0022	0.0056	0	0.0167	0.0109	0.02	0.0185	0.0050452	780	154602	rs41268387	0.0070	0.0070	0.0066	0.0075	0.0216	0.0069	0.0069	0.0185	0.0173	0.0010	0.0034	0.0088	0.0001	0.0166	0.0216	0.0063	0.0064	0.0167	0.0053	0.0053	0.0048	0.0057	0.0168	0.0050	0.0048	0.0138	0.0127	0.0013	0	0.0035	0.0098	0.0010	0.0168	0.0204	0.0056	0.0047	0.0168	0.817	0.08534	T	0.554	0.24334	T	0.0	0.07471	B	0.002	0.06944	B	0.000190	0.48115	N	0.182612	0.99051	0.41175	D	0.09	0.08384	N	0.23	0.59717	T	0.92	0.05125	N	0.361	0.40565	-1.0858	0.06263	T	0.060	0.25237	T	10	0.0067503154	0.00153	T	.	.	.	0.067	0.19503	.	.	0.218628672733	0.21463	0.31849216096257105	0.31762	0.507810000154	0.48961	0.509267151356	0.40119	T	0.076434	0.35419	T	-0.45722	0.01023	T	-0.415916	0.31544	T	0.00694049655315045	0.00079	T	0.781022	0.45098	T	0.114508115	0.27032	0.09213647	0.21697	0.114508115	0.27032	0.09213647	0.21697	-5.521	0.42064	T	.	.	0.081	0.15430	B	.;.;.;.	.;.;.;.	2.535099	0.32784	19.15	0.91713494636780124	0.21009	0.95272	0.64079	D	AEFBCI	0.666365	0.63485	D	-0.392156960646774	0.25748	1.400014	-0.167274809422776	0.32748	1.866268	0.999999980427769	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.64	4.46	0.53567	4.560000	0.60512	2.236000	0.31572	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.996000	0.76049	0.0:0.074:0.0:0.926	10.835	0.45886	784	0.47045	WD40-repeat-containing domain;.;WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016293	0.000000	0.017906	0.038235	0.000000	0.008621	0.012422	0.007692	0.05263	4029.83	34	chr4	10087915	.	T	C	4029.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.188;DP=950;ExcessHet=0.119;FS=0.393;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.882;SOR=0.648	GT:AD:DP:GQ:PL	0/1:88,105:193:99:2439,0,2309	17	0	2	0
chr4	15824960	15824960	C	T	exonic	CD38	.	nonsynonymous SNV	CD38:NM_001775:exon3:c.C443T:p.T148M	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0785249681242	0.0005	0.000998403	0.0005	9.741e-05	0	0.0002	0	0.0005	0.0011	0.0010	0.0004528	70	154602	rs138866692	0.0004	0.0004	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	8.964e-05	6.717e-05	0.0052	0.0001	0	0.0023	0.0002	0.0009	0.0013	0.0003	0.0003	0.0004	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	9.634e-05	0	6.538e-05	0.0043	0.0004	0	0.0068	0.0003	0	0.0010	0.052	0.39097	T	0.006	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	N	0.157752	0.991058	0.41297	D	2.545	0.74286	M	0.44	0.56609	T	-3.87	0.76015	D	0.382	0.42345	-0.5307	0.67515	T	0.307	0.67777	T	10	0.024703503	0.00689	T	0.078525	0.73024	D	0.308	0.62947	.	.	0.75392961054	0.75170	0.8964560050014194	0.89616	0.833824280555	0.67736	0.339563012123	0.16372	T	0.383506	0.74534	T	-0.32325	0.06635	T	-0.26173	0.48651	T	0.0903151085756348	0.11255	T	0.726827	0.37284	T	0.2631608	0.49380	0.33942622	0.59708	0.2631608	0.49380	0.33942622	0.59707	-4.271	0.27768	T	.	.	0.174	0.45569	B	.;.	.;.	3.276894	0.44877	22.0	0.99651921114788899	0.77380	0.43965	0.27214	N	AEFI	0.093587	0.18934	N	0.0342821537521535	0.43421	2.635314	-0.0474717785330979	0.37599	2.203709	0.506066862893366	0.20982	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.35	3.62	0.40616	1.538000	0.35700	1.601000	0.27583	-0.174000	0.10959	0.882000	0.31029	0.880000	0.27694	0.434000	0.27538	0.0:0.8238:0.0:0.1762	8.793	0.34025	839	0.37672	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1139.33	38	chr4	15824960	.	C	T	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.829;DP=706;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.46;SOR=0.693	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1153,0,850	18	0	1	0
chr4	22392616	22392616	T	G	exonic	ADGRA3	.	nonsynonymous SNV	ADGRA3:NM_145290:exon17:c.A2556C:p.K852N	.	437	1073	12	0	0	12	0.0055607	.	.	.	709310	Retinal_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.292	.	0.0022	0.0171725	0.0100	0.0057	0.0007	0.0579	0.0235	0.0019	0.0154	0.0210	0.0089908	1390	154602	rs117922332	0.0048	0.0048	0.0044	0.0052	0.0703	0.0047	0.0047	0.0682	0.0673	0.0054	0.0004	0.0007	0.0703	0.0247	0.0017	0.0004	0.0076	0.0208	0.0069	0.0069	0.0056	0.0082	0.0602	0.0065	0.0064	0.0547	0.0526	0.0059	0	0.0020	0	0.0602	0.0265	0	0.0009	0.0090	0.0214	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999984	0.54805	D	.	.	.	0.99	0.41750	T	-4.38	0.77143	D	0.71	0.71321	-0.9554	0.40024	T	0.031	0.13461	T	10	0.008710623	0.00197	T	.	.	.	0.292	0.61157	0.54	0.65161	.	.	0.8752106451859094	0.87488	0.555599250722	0.52254	0.749384880066	0.74356	T	0.370228	0.73481	T	-0.416612	0.01798	T	-0.318561	0.42732	T	0.0352867434680902	0.02857	T	0.967203	0.88094	D	0.76563585	0.81787	0.745038	0.84929	0.76563585	0.81789	0.745038	0.84930	-14.213	0.93727	D	.	.	0.979	0.90869	P	.	.	3.065698	0.41192	21.3	0.99842647453303335	0.92316	0.80164	0.39875	D	AEFBI	0.523475	0.54706	D	0.163291711420278	0.49442	3.14465	0.0407011105952484	0.41625	2.503879	0.0866646909757018	0.16014	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.18	-1.45	0.08365	-0.143000	0.10278	-0.364000	0.09654	0.665000	0.62972	0.728000	0.28902	0.316000	0.24298	0.995000	0.73285	0.0:0.6486:0.0:0.3514	12.112	0.53147	878	0.29785	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.011364	0.02632	1334.33	34	chr4	22392616	.	T	G	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.634;DP=704;ExcessHet=0;FS=3.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=1.3;SOR=0.424	GT:AD:DP:GQ:PL	0/1:32,48:80:99:1348,0,891	18	0	1	0
chr4	39471248	39471248	C	T	exonic	LIAS	.	nonsynonymous SNV	LIAS:NM_001363700:exon6:c.C587T:p.A196V,LIAS:NM_001278590:exon8:c.C767T:p.A256V,LIAS:NM_006859:exon9:c.C896T:p.A299V,LIAS:NM_194451:exon9:c.C896T:p.A299V	Hyperglycinemia, lactic acidosis, and seizures, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0296981151464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748175505	6.855e-07	1.368e-06	0	1.378e-06	9.012e-07	0	0	.	.	0	0	0	0	0	0	9.012e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.07746	T	0.535	0.12107	T	0.021	0.27154	B	0.02	0.26280	B	0.000000	0.84330	D	0.046862	1	0.81001	D	1.38	0.34346	L	-0.98	0.75789	T	-0.68	0.19509	N	0.473	0.50868	-0.7117	0.59869	T	0.266	0.63716	T	10	0.3648166	0.53016	T	0.029698	0.52157	D	0.323	0.64522	0.404	0.43573	0.834859744198	0.83328	0.8810451983804272	0.88072	0.392848426597	0.40462	0.688378930092	0.65473	T	0.275724	0.64827	T	0.168208	0.70959	D	0.00384316	0.70584	D	0.727299213409424	0.42070	D	0.982102	0.95648	D	0.20496413	0.42624	0.1667776	0.38511	0.20496413	0.42624	0.1667776	0.38510	-1.862	0.06695	T	0.11976344232232068	0.11193	0.12	0.36772	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.643385	0.51676	23.1	0.97902084264221834	0.36752	0.98634	0.84950	D	AEFBI	0.851305	0.76816	D	-0.0187071575971679	0.41008	2.445372	0.199901846817131	0.49841	3.183	0.999999999999459	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.72	5.72	0.89380	7.384000	0.79020	3.244000	0.36984	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.997000	0.79791	0.0:1.0:0.0:0.0	18.877	0.92311	529	0.73716	Radical SAM|Elp3/MiaB/NifB;.;Elp3/MiaB/NifB;Elp3/MiaB/NifB;.;.;Elp3/MiaB/NifB;Elp3/MiaB/NifB	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	894.33	49	chr4	39471248	.	C	T	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.422;DP=1120;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=1.6;SOR=0.793	GT:AD:DP:GQ:PL	0/1:56,41:97:99:908,0,1450	18	0	1	0
chr4	42117567	42117567	G	C	exonic	BEND4	.	nonsynonymous SNV	BEND4:NM_207406:exon6:c.C1556G:p.S519C	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	0.0107	0.0091853	0.0034	0.0403	0.0014	0.0001	0	3.624e-05	0.0026	0	0.0027361	423	154602	rs115434634	0.0011	0.0011	0.0012	0.0009	0.0373	0.0010	0.0010	0.0356	0.0349	0.0373	0.0014	0	5.039e-05	0	0.0016	4.588e-05	0.0030	4.658e-05	0.0093	0.0093	0.0101	0.0085	0.0325	0.0089	0.0087	0.0311	0.0305	0.0325	0	0.0029	0	0	0	0	0.0001	0.0057	0.0002	0.102	0.30235	T	0.152	0.33442	T	0.013	0.16609	B	0.005	0.11217	B	0.000319	0.45977	D	0.152670	0.999994	0.81001	D	0.695	0.17993	N	.	.	.	-1.91	0.44471	N	0.358	0.39962	-1.0833	0.06720	T	0.034	0.14421	T	9	0.0051650703	0.00112	T	.	.	.	0.135	0.36572	.	.	0.043077524339	0.03247	0.7696006369709365	0.76909	0.430129123166	0.43274	0.570287466049	0.48719	T	0.028501	0.22281	T	-0.422887	0.01640	T	-0.354462	0.38692	T	0.0334487341691676	0.02546	T	0.713629	0.32527	T	0.101178005	0.23898	0.073695354	0.16044	0.101178005	0.23898	0.073695354	0.16044	-5.808	0.44644	T	.	.	0.095	0.15070	B	.;.	.;.	3.382167	0.46789	22.4	0.80629692166054356	0.13294	0.98632	0.84926	D	AEFBI	0.778982	0.71132	D	-0.100616150616426	0.37366	2.172887	0.0775648553806809	0.43424	2.644332	0.999967116017656	0.48965	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	7.177000	0.77194	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.0:0.141:0.859:0.0	15.125	0.72155	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.009511	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	995.33	34	chr4	42117567	.	G	C	995.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.107;DP=719;ExcessHet=0;FS=4.13;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.366;SOR=0.36	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1009,0,1320	18	0	1	0
chr4	48383782	48383782	C	T	exonic	SLAIN2	.	nonsynonymous SNV	SLAIN2:NM_020846:exon6:c.C1358T:p.A453V	.	.	.	.	.	.	.	.	0.9981	0.728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00385084959639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1408138575	2.057e-06	2.052e-06	1.364e-06	2.757e-06	2.249e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.249e-05	0	0	0	0	1.802e-06	0	0	6.575e-06	6.568e-06	0	1.346e-05	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.39	0.49117	T	1.0	0.47097	T	0.827	0.45966	P	0.602	0.50862	P	0.567925	0.11268	N	0.790707	1	0.81001	D	2.045	0.56016	M	.	.	.	-1.19	0.37955	N	0.666	0.71055	-0.6385	0.63209	T	0.311	0.68148	T	9	0.44719014	0.58847	T	0.003851	0.09024	T	0.159	0.41286	0.119	0.02647	0.147330786459	0.14319	0.4439799137894684	0.44315	0.207573174993	0.23217	0.772384166718	0.77782	T	0.034586	0.23382	T	0.0652377	0.60263	T	-0.144067	0.59765	T	0.890801966190338	0.54167	D	0.849515	0.53247	T	0.16303176	0.36418	0.108390816	0.26108	0.16303176	0.36418	0.108390816	0.26107	-6.648	0.51418	T	.	.	0.145	0.31906	B	.;.	.;.	4.918445	0.80991	27.4	0.99687801005091159	0.79708	0.99546	0.97297	D	AEFGBI	0.817841	0.73924	D	0.49775580512176	0.66957	5.018142	0.544514710159294	0.71018	5.591148	0.999999999963246	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.12	5.12	0.69459	7.012000	0.76110	7.635000	0.62917	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.912	0.92461	280	0.88949	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	682.33	33	chr4	48383782	.	C	T	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.59;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.313;SOR=0.582	GT:AD:DP:GQ:PL	0/1:33,26:59:99:696,0,754	18	0	1	0
chr4	56976568	56976568	C	T	exonic	NOA1	.	nonsynonymous SNV	NOA1:NM_032313:exon1:c.G1018A:p.D340N	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.0674740826676	.	.	8.256e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs768572602	5.472e-06	5.472e-06	5.445e-06	5.5e-06	8.115e-05	2.35e-06	1.7e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	8.993e-07	0	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.1	0.87590	M	2.61	0.13095	T	-4.83	0.80943	D	0.478	0.51315	-1.0598	0.11805	T	0.112	0.40122	T	10	0.5738198	0.65467	D	0.067474	0.70176	D	0.389	0.70521	0.551	0.66716	0.60906947716	0.60593	0.8893942322996694	0.88909	0.587153137814	0.54305	0.709351181984	0.68499	T	0.532856	0.83865	D	-0.30043	0.08619	T	-0.487795	0.23621	T	0.950336807724541	0.63312	D	0.916808	0.70203	D	0.7716764	0.82149	0.6832184	0.81379	0.7716764	0.82151	0.6832184	0.81380	-9.954	0.73636	D	.	.	0.289	0.52060	B	.	.	4.567127	0.72027	25.8	0.99919513761989243	0.98654	0.83408	0.42527	D	AEFDBCI	0.719736	0.67053	D	0.750131844796624	0.82912	7.881874	0.725994837958488	0.84350	8.268198	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.68	5.68	0.88021	5.769000	0.68518	2.785000	0.34760	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	19.789	0.96448	855	0.34697	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1933.33	34	chr4	56976568	.	C	T	1933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=805;ExcessHet=0;FS=3.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.175;SOR=0.966	GT:AD:DP:GQ:PL	0/1:88,75:163:99:1947,0,2266	18	0	1	0
chr4	73869681	73869681	C	T	exonic	CXCL1	.	nonsynonymous SNV	CXCL1:NM_001511:exon2:c.C113T:p.A38V	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00479082268789	7.7e-05	0.000399361	0.0002	0	0.0002	0	0	0.0001	0	0.0004	0.0001358	21	154602	rs201091698	0.0001	0.0001	6.126e-05	0.0001	0.0035	9.115e-05	8.645e-05	0.0023	0.0019	0	0.0002	0	0	0	0.0035	3.777e-05	0.0002	0.0008	9.846e-05	9.841e-05	6.422e-05	0.0001	0.0014	6.001e-05	4.875e-05	0.0007	0.0005	0	0	0.0002	0.0003	0	0	0	5.879e-05	0	0.0014	0.523	0.07187	T	0.629	0.07220	T	0.001	0.07471	B	0.019	0.18783	B	0.671169	0.10340	N	0.868290	1	0.08975	N	0.165	0.08973	N	1.55	0.29866	T	-0.69	0.19720	N	0.134	0.13055	-0.9630	0.38606	T	0.033	0.14117	T	10	0.0109891	0.00242	T	0.004791	0.11973	T	0.034	0.08419	.	.	0.126345400529	0.12197	0.12080034057420752	0.12007	0.123718543078	0.13920	0.448503553867	0.31739	T	0.115297	0.43378	T	-0.652804	0.00070	T	-0.811321	0.01635	T	0.771503388881683	0.44530	D	0.160084	0.01443	T	0.03503785	0.04047	0.037996657	0.03572	0.03503785	0.04047	0.037996657	0.03571	-4.08	0.24994	T	.	.	0.082	0.08948	B	.	.	-1.203186	0.00527	0.012	0.83055295649272098	0.14518	0.01912	0.05850	N	ALL	0.051918	0.09217	N	-1.82293793063761	0.00491	0.02114847	-1.88660079610653	0.00520	0.02306572	0.999999999996476	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	5.05	-7.71	0.01116	-1.837000	0.01782	-8.333000	0.00987	-0.802000	0.03151	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7225:0.1246:0.153	12.871	0.57354	429	0.80881	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	1987.33	34	chr4	73869681	.	C	T	1987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.968;DP=847;ExcessHet=0;FS=2.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.917;SOR=0.566	GT:AD:DP:GQ:PL	0/1:79,75:154:99:2001,0,2286	18	0	1	0
chr4	87615164	87615167	TAGC	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	587.39	41	chr4	87615164	.	TAGC	*	587.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.478;DP=658;ExcessHet=0.119;FS=0.933;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.293;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,13:34:99:0|1:87615161_CGATAGCAGCAACAGCAGT_C:472,0,842:87615161	18	0	1	0
chr4	87615614	87615614	-	AGCAGTGACAGCAGTGATAGCAGTGAC	exonic	DSPP	.	nonframeshift insertion	DSPP:NM_014208:exon5:c.2952_2953insAGCAGTGACAGCAGTGATAGCAGTGAC:p.S1001_N1002insDSSDSSDSS	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	.	.	.	.	.	.	.	.	.	.	1190238	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0091	0.0025	0	0	0.0001	0.0053	0	3.84e-05	1	26028	rs755728099	0.0004	0.0004	0.0004	0.0003	0.0145	0.0003	0.0003	0.0133	0.0128	0.0145	0.0011	0	0	0	0.0002	1.299e-05	0.0009	3.795e-05	0.0049	0.0067	0.0054	0.0043	0.0194	0.0046	0.0044	0.0181	0.0176	0.0194	0	0.0020	0	0	0	0	7.506e-05	0.0020	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	357.29	51	chr4	87615614	.	T	TAGCAGTGACAGCAGTGATAGCAGTGAC	357.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.842;DP=748;ExcessHet=0;FS=3.544;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-2.229;SOR=0.26	GT:AD:DP:GQ:PL	0/1:15,10:25:99:371,0,564	18	0	1	0
chr4	87615936	87615936	A	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	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4363.69	55	chr4	87615936	.	A	*	4363.69	.	AC=7;AF=0.25;AN=28;BaseQRankSum=-0.285;DP=451;ExcessHet=1.1125;FS=2.305;InbreedingCoeff=0.0232;MLEAC=9;MLEAF=0.321;MQ=55.7;MQRankSum=-2.72;QD=12.22;ReadPosRankSum=-1.255;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:51:1|1:87615883_A_G:765,51,0:87615883	9	2	3	5
chr4	87615956	87615956	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2510.01	55	chr4	87615956	.	T	*	2510.01	.	AC=7;AF=0.269;AN=26;BaseQRankSum=3.63;DP=394;ExcessHet=0.6653;FS=4.584;InbreedingCoeff=0.1064;MLEAC=9;MLEAF=0.346;MQ=53.66;MQRankSum=-2.052;QD=8.34;ReadPosRankSum=-0.124;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:51:1|1:87615883_A_G:765,51,0:87615883	8	2	3	6
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	2047.43	55	chr4	87615962	.	C	*	2047.43	.	AC=7;AF=0.269;AN=26;BaseQRankSum=1.18;DP=371;ExcessHet=0.2598;FS=7.159;InbreedingCoeff=0.1738;MLEAC=9;MLEAF=0.346;MQ=53.6;MQRankSum=-2.771;QD=7.45;ReadPosRankSum=-1.016;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:51:1|1:87615883_A_G:765,51,0:87615883	8	2	3	6
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	981.28	55	chr4	87615971	.	C	*	981.28	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.61;DP=354;ExcessHet=0.0418;FS=2.739;InbreedingCoeff=0.2051;MLEAC=10;MLEAF=0.455;MQ=55.08;MQRankSum=1.04;QD=4.34;ReadPosRankSum=-1.15;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:51:1|1:87615883_A_G:765,51,0:87615883	6	2	3	8
chr4	87615974	87615974	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2188	63.98	55	chr4	87615974	.	C	*	63.98	.	AC=7;AF=0.219;AN=32;BaseQRankSum=0;DP=340;ExcessHet=0.0735;FS=0.516;InbreedingCoeff=0.248;MLEAC=9;MLEAF=0.281;MQ=50.01;MQRankSum=1.65;QD=0.31;ReadPosRankSum=0;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,17:17:51:1|1:87615883_A_G:765,51,0:87615883	11	2	3	3
chr4	87615999	87616080	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	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	1069	426	12	14	1	41	0.044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3864.36	61	chr4	87615999	.	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	*	3864.36	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.884;DP=372;ExcessHet=0.0154;FS=1.012;InbreedingCoeff=0.3517;MLEAC=2;MLEAF=0.059;MQ=58.59;MQRankSum=-2.618;QD=16.87;ReadPosRankSum=-1.488;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19:19:57:1|1:87615883_A_G:855,57,0:87615883	16	1	0	2
chr4	87616153	87616153	-	CAGCAG	exonic	DSPP	.	nonframeshift insertion	DSPP:NM_014208:exon5:c.3491_3492insCAGCAG:p.S1166_D1167insSS	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0169	0	0.0020	0	0	0	0.0002	3.84e-05	1	26028	rs748605173	0.0002	0.0002	0.0003	0.0002	0.0062	0.0002	0.0002	0.0055	0.0052	0.0062	0.0008	0	0	0	0	1.536e-05	0.0008	3.056e-05	0.0011	0.0013	0.0012	0.0009	0.0028	0.0009	0.0008	0.0024	0.0022	0.0028	0	0.0009	0	0	0	0	2.509e-05	0.0008	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	215.5	54	chr4	87616153	.	A	ACAGCAG	215.5	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-1.857;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=0.2811;MLEAC=1;MLEAF=0.036;MQ=57.41;MQRankSum=-0.435;QD=11.97;ReadPosRankSum=1.5;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,7:18:99:0|1:87616124_T_C:227,0,441:87616124	13	0	1	5
chr4	87616154	87616154	-	GAC	exonic	DSPP	.	nonframeshift insertion	DSPP:NM_014208:exon5:c.3492_3493insGAC:p.D1164_S1165insD	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0060	0.0357	0.0127	0.0044	0	0	0	0.0003	0.000414	64	154602	.	0.0004	0.0002	0.0004	0.0003	0.0088	0.0003	0.0003	0.0078	0.0074	0.0088	0.0014	0	0	5.376e-05	0	2.762e-05	0.0013	4.251e-05	0.0026	0.0026	0.0028	0.0023	0.0066	0.0022	0.0020	0.0055	0.0051	0.0066	0	0.0020	0	0	0	0	5.809e-05	0.0017	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	326.66	54	chr4	87616154	.	T	TGAC	326.66	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-1.116;DP=651;ExcessHet=0;FS=0;InbreedingCoeff=0.1783;MLEAC=1;MLEAF=0.042;MQ=57.53;MQRankSum=-0.435;QD=18.15;ReadPosRankSum=1.45;SOR=0.765	GT:AD:DP:GQ:PL	0/1:11,7:18:99:337,0,435	11	0	1	7
chr4	89248895	89248895	G	A	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.C1216T:p.R406W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0045	0.00479233	0.0010	0.0109	0.0006	0.0001	0	8.998e-05	0	0.0001	0.0010284	159	154602	rs35246727	0.0004	0.0004	0.0005	0.0003	0.0131	0.0004	0.0003	0.0120	0.0116	0.0131	0.0005	3.826e-05	7.557e-05	1.872e-05	0.0003	3.777e-05	0.0006	0.0001	0.0030	0.0030	0.0032	0.0028	0.0104	0.0028	0.0027	0.0096	0.0093	0.0104	0	0.0008	0	0	0	0	0.0001	0.0014	0	0.008	0.58626	D	0.027	0.55341	D	0.85	0.46913	P	0.34	0.42389	B	0.080647	0.20912	N	0.248292	1	0.08975	N	0.345	0.11182	N	2.86	0.10482	T	-0.98	0.25986	N	0.114	0.12484	-1.0012	0.29574	T	0.005	0.01797	T	10	0.0029663146	0.00048	T	.	.	.	0.123	0.34020	.	.	0.0986583533028	0.09354	0.13000009391845505	0.12925	0.0995205097504	0.11235	0.19720852375	0.00380	T	0.003412	0.02819	T	-0.714207	0.00030	T	-0.78929	0.02184	T	0.0104284453435844	0.00144	T	0.60234	0.22547	T	0.04971857	0.08872	0.040559717	0.04412	0.04971857	0.08871	0.040559717	0.04412	-6.625	0.51244	T	.	.	0.104	0.20663	B	.;.	.;.	1.840950	0.23390	16.00	0.95737196482486764	0.27687	0.08035	0.14011	N	AEFDBI	0.199969	0.32674	N	-1.095732552912	0.06721	0.3102285	-1.14467712406672	0.06864	0.3318735	0.99997231075198	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.26	2.61	0.30255	0.514000	0.22492	0.705000	0.20878	-0.905000	0.02300	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4696:0.3876:0.1427	8.253	0.30895	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2099.33	42	chr4	89248895	.	G	A	2099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=1366;ExcessHet=0;FS=2.033;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.979;SOR=0.92	GT:AD:DP:GQ:PL	0/1:76,76:152:99:2113,0,1787	18	0	1	0
chr4	93490728	93490728	G	A	exonic	GRID2	.	nonsynonymous SNV	GRID2:NM_001286838:exon11:c.G1663A:p.A555T,GRID2:NM_001510:exon12:c.G1948A:p.A650T	Spinocerebellar ataxia, autosomal recessive 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.361328552965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.075	0.97183	H	-0.83	0.74159	T	-3.43	0.67359	D	0.964	0.97643	0.668	0.92775	D	0.709	0.90002	D	10	0.9626421	0.95694	D	0.361329	0.92519	D	0.847	0.95249	0.859	0.95718	0.954577139301	0.95409	0.8977205853251505	0.89743	0.793729118991	0.65936	0.835392475128	0.87390	D	0.882474	0.97547	D	0.419128	0.90976	D	0.364272	0.90864	D	0.998649656772614	0.94736	D	0.950605	0.81824	D	0.7335439	0.79924	0.73871017	0.84556	0.7335439	0.79926	0.73871017	0.84557	-13.818	0.92450	D	0.5077806909397391	0.58197	0.994	0.95066	P	.;.;.	.;.;.	5.024683	0.83534	28.1	0.99928250430173726	0.99222	0.98841	0.87561	D	AEFI	0.911772	0.87149	D	0.940606345901026	0.93601	12.14927	0.834746872478943	0.92092	11.23314	0.999999859839091	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.37	5.37	0.76949	9.564000	0.97283	11.732000	0.95017	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.733000	0.35199	0.0:0.0:1.0:0.0	19.110	0.93295	918	0.19598	Ionotropic glutamate receptor|Ionotropic glutamate receptor;.;Ionotropic glutamate receptor|Ionotropic glutamate receptor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1115.33	34	chr4	93490728	.	G	A	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.067;DP=757;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.17;SOR=0.525	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1129,0,1460	18	0	1	0
chr4	93772319	93772319	G	T	exonic	GRID2	.	nonsynonymous SNV	GRID2:NM_001286838:exon15:c.G2560T:p.A854S,GRID2:NM_001510:exon16:c.G2845T:p.A949S	Spinocerebellar ataxia, autosomal recessive 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.010252404525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.04239	T	0.439	0.13480	T	0.243	0.30970	B	0.066	0.27432	B	0.028638	0.25574	N	0.436972	0.999988	0.54805	D	-0.115	0.04602	N	2.5	0.15028	T	0.04	0.06868	N	0.376	0.55280	-0.9956	0.31136	T	0.019	0.08126	T	10	0.21594155	0.38161	T	0.010252	0.26566	T	0.209	0.49871	0.216	0.13643	0.616271326201	0.61317	0.5780626236690536	0.57735	0.240577213449	0.26601	0.66921210289	0.62726	T	0.075513	0.35195	T	-0.111883	0.34456	T	-0.398489	0.33560	T	0.882386445999146	0.53249	D	0.771723	0.40231	T	0.100420594	0.23710	0.07546783	0.16617	0.100420594	0.23710	0.07546783	0.16617	-2.686	0.07186	T	.	.	0.074	0.06341	B	.;.;.	.;.;.	4.036088	0.59715	24.1	0.98818973173277747	0.46753	0.94084	0.60064	D	AEFDBHCI	0.923591	0.90029	D	-0.149609946384278	0.35250	2.022426	0.0748316569543884	0.43287	2.633623	0.99999999989512	0.74766	0.706298	0.61202	0	0.475579	0.06741	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.52	4.68	0.58319	7.734000	0.83867	9.915000	0.82458	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0725:0.0:0.9275:0.0	13.991	0.63881	880	0.29376	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2490.33	38	chr4	93772319	.	G	T	2490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.369;DP=923;ExcessHet=0;FS=1.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.005;SOR=0.788	GT:AD:DP:GQ:PL	0/1:103,95:198:99:2504,0,3057	18	0	1	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,19:93:92:.:.:92,0,1968:.	2	0	17	0
chr4	99347058	99347058	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G207C:p.E69D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.83351	D	0.994	0.66517	D	0.929	0.66367	D	.	.	.	.	.	.	.	1.565	0.39561	L	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	0.5626589	0.64875	D	.	.	.	.	.	.	.	0.427139414373	0.42328	0.8914061528926898	0.89110	.	.	0.513031244278	0.40645	T	0.026211	0.58974	T	0.22255	0.76017	D	0.0819005	0.75705	D	.	.	.	0.975102	0.94195	D	0.6913734	0.77585	0.5877092	0.76085	0.6913734	0.77587	0.5877092	0.76086	-12.015	0.84925	D	.	.	0.959	0.87947	P	.;.;.	.;.;.	2.789522	0.36664	20.3	0.99424627263076804	0.63935	0.54002	0.29509	D	AEFI	0.672285	0.63874	D	.	.	.	.	.	.	1.82240512729962E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	0.955	0.18725	0.069000	0.14419	-0.861000	0.07140	0.549000	0.26987	0.372000	0.25940	0.002000	0.18203	0.136000	0.19798	0.0:0.4777:0.0:0.5223	7.455	0.26434	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	315.14	51	chr4	99347058	.	C	G	315.14	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.636;DP=1370;ExcessHet=0.3672;FS=259.16;InbreedingCoeff=-0.118;MLEAC=3;MLEAF=0.088;MQ=59.9;MQRankSum=0.561;QD=1.08;ReadPosRankSum=0.432;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,10:86:72:.:.:72,0,1976:.	14	0	3	2
chr4	99591235	99591235	G	A	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon5:c.G583A:p.V195I,MTTP:NM_000253:exon6:c.G502A:p.V168I	Abetalipoproteinemia, Autosomal recessive	0	1475	46	1	0	48	0.0160107	0.7313	0.39	YES	294778	not_specified|not_provided|Abetalipoproteinaemia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.123	.	0.0078	0.00778754	0.0102	0.0020	0.0086	0.0118	0.0045	0.0117	0.0077	0.0118	0.0099093	1532	154602	rs61750974	0.0097	0.0097	0.0095	0.0099	0.0176	0.0096	0.0095	0.0148	0.0138	0.0017	0.0083	0.0304	0.0103	0.0061	0.0176	0.0092	0.0120	0.0133	0.0079	0.0079	0.0080	0.0079	0.0129	0.0075	0.0074	0.0105	0.0095	0.0021	0	0.0084	0.0337	0.0129	0.0035	0.0170	0.0099	0.0123	0.0124	0.0	0.91255	D	0.0	0.92824	D	0.967	0.59353	D	0.761	0.59331	P	0.000254	0.46924	D	0.221763	0.950724	0.37708	D	2.75	0.80375	M	1.96	0.41750	T	-0.44	0.14588	N	0.114	0.11054	-0.7853	0.56002	T	0.114	0.40536	T	9	0.009104729	0.00291	T	.	.	.	0.123	0.34020	.	.	.	.	0.1991287038952996	0.19829	0.239867016436	0.26532	0.383642137051	0.22772	T	0.022931	0.43860	T	-0.542262	0.00325	T	-0.538724	0.18423	T	0.064671118824304	0.07882	T	0.652235	0.30204	T	0.045035552	0.07302	0.063721694	0.12664	0.037605893	0.04852	0.063721694	0.12664	-4.065	0.24772	T	0.2709707601705125	0.36454	0.084	0.09772	B	.;.;.;.	.;.;.;.	3.787366	0.54495	23.5	0.9976857270100743	0.85666	0.80525	0.40140	D	AEFI	0.722971	0.67273	D	0.448519150340318	0.64118	4.659456	0.44791500378416	0.64582	4.716802	0.387949059409406	0.20020	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	5.07	0.68106	4.279000	0.58747	3.962000	0.40756	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0749:0.0:0.9251:0.0	13.015	0.58159	918	0.19598	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.005051	0.017663	0.011696	0.000000	0.008621	0.018293	0.015152	0.1053	3098.41	35	chr4	99591235	.	G	A	3098.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.484;DP=728;ExcessHet=0.0101;FS=0.585;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-0.358;SOR=0.784	GT:AD:DP:GQ:PL	0/1:28,30:58:99:733,0,651	16	1	2	0
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T,PPP3CA:NM_001130691:exon2:c.G164C:p.R55T,PPP3CA:NM_001130692:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2857	577.3	184	chr4	101196011	.	C	G	577.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.731;DP=2361;ExcessHet=0.7564;FS=238.355;InbreedingCoeff=-0.3579;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.57;SOR=10.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,21:141:36:.:.:36,0,3696:.	3	0	4	12
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:86,31:117:35:35,0,1630	5	0	12	2
chr4	110513416	110513416	G	A	exonic	ENPEP	.	nonsynonymous SNV	ENPEP:NM_001379611:exon7:c.G1310A:p.R437H,ENPEP:NM_001379612:exon7:c.G1310A:p.R437H,ENPEP:NM_001379613:exon7:c.G1310A:p.R437H,ENPEP:NM_001977:exon7:c.G1310A:p.R437H	.	456	1064	2	0	0	2	0.000938967	0.0004	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00957793566032	0.0029	0.00159744	0.0037	0.0008	0.0010	0.0002	0.0088	0.0055	0.0033	0.0001	0.0035316	546	154602	rs34949711	0.0037	0.0037	0.0038	0.0036	0.0042	0.0036	0.0036	0.0041	0.0040	0.0003	0.0009	3.845e-05	0.0003	0.0091	0.0017	0.0042	0.0029	0.0001	0.0029	0.0029	0.0026	0.0031	0.0043	0.0026	0.0026	0.0039	0.0038	0.0004	0	0.0013	0	0.0008	0.0092	0	0.0043	0.0019	0	0.566	0.06262	T	0.536	0.09897	T	0.999	0.77913	D	0.912	0.64797	D	0.001124	0.40136	N	0.251978	0.512933	0.31632	N	2.215	0.62545	M	4.2	0.02689	T	-1.56	0.37759	N	0.219	0.24510	-1.0571	0.12491	T	0.015	0.05994	T	10	0.0074540675	0.00169	T	0.009578	0.25062	T	0.107	0.30369	.	.	0.369867359543	0.36593	0.4459094422832948	0.44508	0.159954026429	0.18046	0.370943337679	0.20968	T	0.080009	0.36262	T	-0.489844	0.00651	T	-0.473096	0.25184	T	0.0617222051701308	0.07437	T	0.840516	0.51562	T	0.2536863	0.48392	0.14793621	0.34989	0.2536863	0.48392	0.14793621	0.34988	-4.431	0.29975	T	.	.	0.117	0.23640	B	.	.	2.951391	0.39270	20.9	0.87940306607983898	0.17595	0.86464	0.45750	D	AEFI	0.635101	0.61473	D	0.140065009867941	0.48340	3.047688	0.0767954177121343	0.43383	2.641281	0.366345545279059	0.19826	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.39	1.22	0.20300	1.260000	0.32571	0.316000	0.17134	0.676000	0.76740	0.988000	0.36536	0.028000	0.21151	0.997000	0.79791	0.0:0.0:0.2806:0.7193	14.895	0.70277	856	0.34373	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1573.33	34	chr4	110513416	.	G	A	1573.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4;DP=759;ExcessHet=0;FS=6.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.152;SOR=1.325	GT:AD:DP:GQ:PL	0/1:76,59:135:99:1587,0,1702	18	0	1	0
chr4	128011984	128011984	-	T	exonic	ABHD18	.	frameshift insertion	ABHD18:NM_001366038:exon8:c.17dupT:p.L10Ffs*74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs747637430	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.0084	0.0078	0.0073	0.0212	0.0072	0.0071	0.0200	0.0196	0.0212	0	0.0057	0.0030	0.0010	0.0035	0.0147	0.0017	0.0066	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	36.59	.	chr4	128011984	.	C	CT	36.59	.	AC=2;AF=0.067;AN=30;DP=46;ExcessHet=0;FS=0;InbreedingCoeff=0.2822;MLEAC=2;MLEAF=0.067;MQ=60;QD=18.3;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:52,6,0	14	1	0	4
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,39:101:99:.:.:577,0,1834:.	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,27:99:99:.:.:487,0,1868:.	1	0	18	0
chr4	151577843	151577843	A	C	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon4:c.A499C:p.N167H,FAM160A1:NM_001109977:exon5:c.A499C:p.N167H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0194056914055	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867037082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.949	0.53761	P	0.833	0.59784	P	0.000001	0.62929	D	0.093224	0.999976	0.53665	D	2.11	0.58565	M	1.49	0.31470	T	-4.16	0.75375	D	0.563	0.58713	-0.8672	0.50739	T	0.172	0.51468	T	9	0.56592786	0.65049	D	0.019406	0.41765	T	0.393	0.70844	0.719	0.85408	0.162503812791	0.15892	0.4024894670177252	0.40164	.	.	0.505266308784	0.39561	T	0.038247	0.24771	T	-0.0645862	0.42186	T	-0.33055	0.41407	T	0.980512619018555	0.73401	D	0.706729	0.31713	T	0.65546244	0.75655	0.66456825	0.80335	0.65546244	0.75657	0.66456825	0.80336	-7.861	0.60119	D	.	.	0.087	0.12228	B	.;.	.;.	3.210896	0.43707	21.8	0.9958546785348652	0.73277	0.96212	0.68050	D	AEFBHCI	0.776860	0.70984	D	0.659445842598894	0.76982	6.587688	0.665073338768618	0.79739	7.146141	0.999999999752589	0.74766	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.92	5.92	0.95557	6.039000	0.70611	9.390000	0.80573	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	1.0:0.0:0.0:0.0	16.407	0.83522	303	0.87825	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1947.33	34	chr4	151577843	.	A	C	1947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.888;DP=800;ExcessHet=0;FS=2.984;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.02;SOR=0.955	GT:AD:DP:GQ:PL	0/1:75,73:148:99:1961,0,2122	18	0	1	0
chr4	152943203	152943203	G	A	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon1:c.G146A:p.C49Y,FHDC1:NM_001371116:exon2:c.G146A:p.C49Y	.	320	1146	47	9	0	65	0.0275774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0016	0.00519169	0.0052	0.0004	0.0026	0	0.0002	0.0031	0.0092	0.0229	0.0045278	700	154602	rs144913043	0.0030	0.0030	0.0022	0.0038	0.0266	0.0029	0.0029	0.0232	0.0218	0.0004	0.0025	0.0049	0	0.0002	0.0266	0.0016	0.0042	0.0227	0.0023	0.0024	0.0019	0.0027	0.0216	0.0021	0.0020	0.0182	0.0169	0.0002	0	0.0036	0.0035	0	0	0.0274	0.0023	0.0053	0.0216	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.008757	0.01217	N	2.983030	1	0.08975	N	-1.87	0.00254	N	1.53	0.30401	T	0.76	0.01978	N	0.11	0.11054	-0.9921	0.32063	T	0.023	0.09696	T	10	0.0022506118	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0920862733494	0.08535	0.15457957265891106	0.15378	0.196178703926	0.21972	0.452522158623	0.32288	T	0.001957	0.01365	T	-0.687484	0.00043	T	-0.74338	0.03750	T	0.0118901831796126	0.00185	T	0.285571	0.05082	T	0.021892782	0.00818	0.041451093	0.04714	0.021892782	0.00818	0.041451093	0.04714	-4.911	0.35858	T	.	.	0.061	0.01408	B	.;.	.;.	-1.399194	0.00361	0.007	0.15099306828571379	0.00357	0.00708	0.02999	N	AEFDBI	0.019336	0.00662	N	-1.87631002830649	0.00384	0.0165022	-1.97879846972427	0.00339	0.01498587	0.999999985020185	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.51	-9.02	0.00635	-1.940000	0.01634	-0.165000	0.11284	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1062:0.235:0.1374:0.5215	3.403	0.06904	870	0.31527	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.010101	0.017663	0.020468	0.000000	0.000000	0.018293	0.037879	0.02632	1358.33	35	chr4	152943203	.	G	A	1358.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.978;DP=750;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.918;SOR=0.525	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1372,0,1483	18	0	1	0
chr4	152975467	152975467	C	G	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.C2176G:p.P726A,FHDC1:NM_001371116:exon12:c.C2176G:p.P726A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00691642213569	0.0003	0.000399361	0.0010	0	0.0002	0	0.0033	0.0012	0.0011	0.0007	0.0008344	129	154602	rs141865298	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0006	0.0006	5.974e-05	0.0002	0	0	0.0035	0	0.0005	0.0006	0.0008	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0003	0.0004	0.0004	0	0	0.0003	0	0	0.0022	0.0034	0.0005	0.0009	0.0006	0.139	0.25768	T	0.78	0.04330	T	0.051	0.22415	B	0.016	0.17743	B	0.422613	0.04657	N	1.326060	1	0.08975	N	1.65	0.42232	L	1.42	0.33189	T	-2.33	0.51646	N	0.11	0.09631	-0.9900	0.32601	T	0.071	0.28969	T	10	0.0043516755	0.00088	T	0.006916	0.18289	T	0.037	0.09474	.	.	0.178374595973	0.17440	0.19239399326205317	0.19157	0.151165570631	0.17061	0.338100969791	0.16153	T	0.030646	0.21673	T	-0.501347	0.00562	T	-0.55492	0.16857	T	0.0187762610712301	0.00589	T	0.506749	0.16047	T	0.097330995	0.22940	0.06519572	0.13178	0.097330995	0.22940	0.06519572	0.13178	-4.039	0.24385	T	.	.	0.063	0.01834	B	.;.	.;.	0.959111	0.13353	9.860	0.81678828844426843	0.13806	0.25441	0.22700	N	AEFDBCI	0.084542	0.17135	N	-0.757692104228063	0.14424	0.7184491	-0.764282463572593	0.15372	0.8081248	0.999764882840155	0.42728	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.542086	0.14980	0	.	.	4.54	3.67	0.41236	0.390000	0.20494	-0.548000	0.08544	0.530000	0.24713	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.8372:0.1628:0.0	12.973	0.57926	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	.	.	.	.	.	.	.	.	0.02632	945.33	74	chr4	152975467	.	C	G	945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.433;DP=1139;ExcessHet=0;FS=10.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.024;SOR=0.176	GT:AD:DP:GQ:PL	0/1:48,34:82:99:959,0,1459	18	0	1	0
chr4	153723417	153723417	T	C	exonic	RNF175	.	nonsynonymous SNV	RNF175:NM_173662:exon5:c.A443G:p.Y148C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.114241179794	.	.	1.005e-05	0	0	0	0	1.81e-05	0	0	1.29e-05	2	154602	rs754466552	4.125e-06	6.157e-06	5.475e-06	2.763e-06	2.333e-05	1.48e-06	9.8e-07	3.87e-06	1.45e-06	0	0	0	0	0	0	2.713e-06	1.663e-05	2.333e-05	1.314e-05	1.313e-05	0	2.69e-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	0.037	0.43085	D	0.003	0.76473	D	0.597	0.39250	P	0.248	0.38946	B	0.000001	0.84330	D	0.000000	0.999991	0.58761	D	1.905	0.50856	L	-1.67	0.82806	D	-7.2	0.95366	D	0.525	0.55453	0.395	0.89018	D	0.692	0.89364	D	10	0.79622066	0.79094	D	0.114241	0.79303	D	0.761	0.91879	0.41	0.44559	0.87773450878	0.87654	0.9043632365930098	0.90409	0.0422098634338	0.04548	0.562974572182	0.47688	T	0.112168	0.42823	T	0.297547	0.82771	D	0.189629	0.82548	D	0.88829493522644	0.53888	D	0.910309	0.72946	D	0.57086456	0.71108	0.45162308	0.68096	0.57086456	0.71109	0.45162308	0.68096	-10.646	0.77682	D	.	.	0.102	0.30608	B	.;.	.;.	2.716491	0.35524	19.92	0.99713995988935433	0.81563	0.89758	0.50431	D	AEFBI	0.643342	0.61999	D	0.378324815151998	0.60250	4.211811	0.316675990067181	0.56520	3.815369	0.337127888854382	0.19545	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.34	3.15	0.35301	4.463000	0.59863	1.417000	0.26331	0.665000	0.62972	1.000000	0.71638	0.966000	0.29516	0.998000	0.85391	0.0:0.0933:0.0:0.9067	8.616	0.32995	656	0.62345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1812.33	44	chr4	153723417	.	T	C	1812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.775;DP=986;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.8;SOR=0.723	GT:AD:DP:GQ:PL	0/1:81,78:159:99:1826,0,1978	18	0	1	0
chr4	169719961	169719961	G	A	exonic	CLCN3	.	nonsynonymous SNV	CLCN3:NM_173872:exon14:c.G2497A:p.G833S	.	381	1117	24	0	0	24	0.0106289	.	.	.	2820272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.252	.	0.0025	0.00399361	0.0043	0.0008	0.0021	0	0.0018	0.0050	0.0066	0.0085	0.0042496	657	154602	rs149400550	0.0038	0.0038	0.0036	0.0040	0.0218	0.0037	0.0037	0.0187	0.0176	0.0014	0.0031	0.0370	0	0.0020	0.0218	0.0027	0.0062	0.0090	0.0035	0.0035	0.0034	0.0035	0.0083	0.0032	0.0031	0.0063	0.0056	0.0007	0.0011	0.0039	0.0340	0	0.0021	0.0136	0.0035	0.0062	0.0083	0.0	0.91255	D	0.0	0.92824	D	0.349	0.33622	B	0.036	0.22909	B	0.425153	0.12820	N	0.775091	1	0.81001	D	.	.	.	-2.73	0.90679	D	-0.38	0.13418	N	0.277	0.31365	-0.0975	0.80155	T	0.507	0.81454	D	9	0.005770564	0.00129	T	.	.	.	0.252	0.56159	.	.	0.635868023284	0.63288	0.68435815397961	0.68374	2.05480476206	0.94368	0.5796636343	0.50039	T	.	.	.	-0.227054	0.17040	T	-0.0928096	0.63950	T	0.0484960841961616	0.05232	T	0.927507	0.73308	D	.	.	.	.	.	.	.	.	-5.476	0.41643	T	.	.	0.101	0.17360	B	.	.	1.412660	0.18282	13.65	0.99831642735742931	0.91370	0.97521	0.75291	D	AEFBI	0.822896	0.74312	D	0.164419337160632	0.49496	3.149393	0.290658596066928	0.54991	3.662906	0.998926984589502	0.37985	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.39	4.55	0.55429	8.182000	0.89644	9.959000	0.82782	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0739:0.0:0.9261:0.0	13.831	0.62876	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019211	0.000000	0.017663	0.055556	0.000000	0.025862	0.006098	0.007634	0.02632	808.33	33	chr4	169719961	.	G	A	808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.538;DP=665;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.024;SOR=0.751	GT:AD:DP:GQ:PL	0/1:24,33:57:99:822,0,509	18	0	1	0
chr4	174518075	174518075	T	C	exonic	HPGD	.	nonsynonymous SNV	HPGD:NM_000860:exon3:c.A220G:p.T74A,HPGD:NM_001145816:exon3:c.A220G:p.T74A,HPGD:NM_001256305:exon3:c.A220G:p.T74A,HPGD:NM_001363574:exon3:c.A220G:p.T74A	Cranioosteoarthropathy, Autosomal recessive;Digital clubbing, isolated congenital, Autosomal recessive;Hypertrophic osteoarthropathy, primary, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2142871	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.318	0.0422313401389	0.0002	0.000199681	3.664e-05	0.0002	9.369e-05	0	0	1.702e-05	0	0	3.23e-05	5	154602	rs142173308	2.281e-05	3.227e-05	2.145e-05	2.416e-05	0.0005	1.618e-05	1.405e-05	0.0003	0.0002	0.0005	6.763e-05	0	0	0	0	6.129e-06	0.0001	0	0.0001	0.0001	0.0002	6.711e-05	0.0003	7.084e-05	5.742e-05	0.0002	0.0002	0.0003	0	6.536e-05	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	1.0	0.05327	T	0.001	0.16265	B	0.002	0.11217	B	0.000000	0.84330	D	0.046992	0.995347	0.81001	D	-1.34	0.00672	N	-2.08	0.86010	D	1.47	0.00765	N	0.304	0.35620	-0.6630	0.62144	T	0.249	0.61866	T	10	0.056429744	0.06324	T	0.042231	0.60356	D	0.318	0.64008	.	.	0.759047345562	0.75685	0.4598511824898102	0.45903	0.0287596910294	0.02960	0.390571981668	0.23750	T	0.285707	0.65849	T	-0.261128	0.12768	T	-0.316676	0.42937	T	0.0241790478613234	0.01168	T	0.727427	0.34191	T	0.42885974	0.62677	0.17195168	0.39415	0.42885974	0.62678	0.17195168	0.39414	-3.752	0.20089	T	.	.	0.082	0.15341	B	.;.;.;.	.;.;.;.	1.658623	0.21151	15.07	0.27832387797735186	0.01401	0.77637	0.38196	D	AEFI	0.254196	0.37356	N	-0.461054284927129	0.23367	1.25432	-0.166937678724153	0.32761	1.867123	0.999998609806143	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	3.178000	0.50579	3.543000	0.39013	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.0:0.0793:0.0:0.9207	9.560	0.38527	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	786.33	34	chr4	174518075	.	T	C	786.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.36;DP=688;ExcessHet=0;FS=2.12;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-1.713;SOR=0.397	GT:AD:DP:GQ:PL	0/1:36,36:72:99:800,0,1017	18	0	1	0
chr4	177431784	177431784	G	A	exonic	AGA	.	nonsynonymous SNV	AGA:NM_000027:exon9:c.C965T:p.T322I,AGA:NM_001171988:exon9:c.C935T:p.T312I	Aspartylglucosaminuria, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	367915	Inborn_genetic_diseases|not_specified|not_provided|Aspartylglucosaminuria	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012068,MONDO:MONDO:0008830,MedGen:C0268225,OMIM:208400,Orphanet:93	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.221	.	0.0048	0.00339457	0.0011	0.0115	0.0005	0	0	4.589e-05	0	0	0.0010349	160	154602	rs56849061	0.0003	0.0003	0.0004	0.0003	0.0115	0.0003	0.0003	0.0106	0.0102	0.0115	0.0005	0	2.522e-05	0	0.0009	6.296e-06	0.0008	1.159e-05	0.0038	0.0038	0.0039	0.0038	0.0134	0.0036	0.0035	0.0125	0.0121	0.0134	0	0.0014	0	0	0	0.0034	2.941e-05	0.0009	0	0.184	0.21634	T	0.213	0.26467	T	0.007	0.14184	B	0.015	0.17295	B	0.000512	0.43753	D	0.286026	0.780437	0.29339	N	2.39	0.68882	M	-2.11	0.86216	D	-1.41	0.34795	N	0.239	0.26957	-0.5667	0.66146	T	0.367	0.72689	T	10	0.009900689	0.00222	T	.	.	.	0.221	0.51721	.	.	0.852263009808	0.85084	0.8306621336460717	0.83025	0.118005060734	0.13285	0.341885328293	0.16720	T	0.424951	0.77522	T	-0.393723	0.02545	T	-0.326009	0.41911	T	0.0244605949806927	0.01203	T	0.783622	0.42065	T	0.17643766	0.38556	0.18251637	0.41184	0.22234553	0.44832	0.15940236	0.37177	-6.787	0.52462	T	.	.	0.106	0.19518	B	.	.	2.478481	0.31957	18.90	0.98214089204434396	0.39237	0.93959	0.59690	D	AEFBI	0.531653	0.55184	D	-0.155044765214539	0.35020	2.00631	0.00938837007787127	0.40149	2.391568	0.0472952059154961	0.14724	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.87	3.02	0.33970	3.065000	0.49687	1.694000	0.28089	0.676000	0.76740	1.000000	0.71638	0.023000	0.20922	0.998000	0.85391	0.0:0.3135:0.4485:0.2381	8.087	0.29937	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1019.33	33	chr4	177431784	.	G	A	1019.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.451;DP=720;ExcessHet=0;FS=2.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-1.917;SOR=0.439	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1033,0,1289	18	0	1	0
chr4	182688220	182688220	G	A	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon12:c.G2090A:p.R697H	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	734530	not_provided|TENM3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.169	0.00943851202422	0.0010	0.000599042	0.0005	0.0043	0.0003	0	0	9.003e-05	0	0.0005	0.0004334	67	154602	rs147392905	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0038	0.0035	0.0043	0.0005	0	2.519e-05	0	0.0003	1.619e-05	0.0005	0.0004	0.0012	0.0012	0.0012	0.0012	0.0040	0.0011	0.0010	0.0035	0.0033	0.0040	0	0.0010	0	0	0	0	0	0.0009	0.0002	0.078	0.33923	T	0.004	0.74150	D	0.998	0.73220	D	0.943	0.67921	D	.	.	.	.	1	0.81001	D	0.845	0.21182	L	3.99	0.03268	T	-2.4	0.52776	N	0.399	0.43995	-1.1333	0.01631	T	0.022	0.09330	T	9	0.015226215	0.00320	T	0.009439	0.24739	T	0.169	0.43123	.	.	0.043077524339	0.03247	0.4476483658891146	0.44682	1.03523104883	0.75559	0.361477971077	0.19601	T	0.24758	0.61725	T	-0.537995	0.00344	T	-0.544615	0.17846	T	0.024290763252915	0.01182	T	0.941106	0.78031	D	0.110465616	0.26111	0.14016227	0.33418	0.110465616	0.26110	0.14016227	0.33417	-3.235	0.12914	T	0.26188214933912696	0.35349	0.074	0.05060	B	.	.	4.284289	0.65289	24.8	0.99737854095589951	0.83264	0.93385	0.58075	D	AEFDBIJ	0.570023	0.57457	D	0.529417651661916	0.68836	5.272563	0.496932811309424	0.67786	5.130896	0.99535141405875	0.34082	0.706298	0.61202	0	0.573888	0.26702	0	0.693117	0.63056	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	4.697000	0.61467	11.841000	0.97811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.408000	0.26961	0.0:0.0:1.0:0.0	18.857	0.92225	992	0.01359	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1544.33	33	chr4	182688220	.	G	A	1544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=740;ExcessHet=0;FS=6.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.011;SOR=0.967	GT:AD:DP:GQ:PL	0/1:38,58:96:99:1558,0,824	18	0	1	0
chr4	184757844	184757844	G	A	exonic	ACSL1	.	nonsynonymous SNV	ACSL1:NM_001286711:exon18:c.C1757T:p.S586L,ACSL1:NM_001381890:exon18:c.C1667T:p.S556L,ACSL1:NM_001286708:exon19:c.C1859T:p.S620L,ACSL1:NM_001286710:exon19:c.C1859T:p.S620L,ACSL1:NM_001381880:exon19:c.C1859T:p.S620L,ACSL1:NM_001381881:exon19:c.C1859T:p.S620L,ACSL1:NM_001381882:exon19:c.C1859T:p.S620L,ACSL1:NM_001381883:exon19:c.C1859T:p.S620L,ACSL1:NM_001381884:exon19:c.C1859T:p.S620L,ACSL1:NM_001381886:exon19:c.C1859T:p.S620L,ACSL1:NM_001381887:exon19:c.C1859T:p.S620L,ACSL1:NM_001995:exon19:c.C1859T:p.S620L,ACSL1:NM_001381877:exon20:c.C1859T:p.S620L,ACSL1:NM_001381878:exon20:c.C1859T:p.S620L,ACSL1:NM_001381879:exon20:c.C1859T:p.S620L,ACSL1:NM_001381885:exon20:c.C1859T:p.S620L,ACSL1:NM_001381888:exon20:c.C1712T:p.S571L,ACSL1:NM_001381889:exon20:c.C1712T:p.S571L	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0309122950774	.	.	9.884e-05	0	8.637e-05	0	0	0.0001	0	0.0002	8.41e-05	13	154602	rs201057608	6.362e-05	6.362e-05	5.717e-05	7.013e-05	0.0002	5.294e-05	4.911e-05	0.0002	0.0001	0	0.0002	0.0003	0	0.0001	0	4.406e-05	4.967e-05	0.0002	6.572e-05	6.567e-05	6.424e-05	6.727e-05	0.0003	3.517e-05	2.617e-05	8.881e-05	5.389e-05	0	0	0.0003	0.0003	0	0	0	7.348e-05	0	0	0.001	0.78490	D	0.02	0.61642	D	0.897	0.55278	P	0.208	0.37221	B	0.018219	0.27535	N	0.447787	0.988682	0.40809	D	3.22	0.89398	M	2.25	0.17761	T	-3.78	0.74504	D	0.335	0.42149	-1.0566	0.12621	T	0.077	0.30859	T	10	0.43101084	0.57490	T	0.030912	0.53115	D	0.246	0.55340	.	.	0.669310837121	0.66651	0.5875808184142307	0.58688	0.285617431105	0.30974	0.351811498404	0.18188	T	0.369633	0.91399	T	-0.23434	0.16079	T	-0.30509	0.44185	T	0.39887916330165	0.28900	T	0.89971	0.64861	D	0.2932597	0.52294	0.420675	0.66023	0.2932597	0.52294	0.420675	0.66023	-10.811	0.78672	D	.	.	0.135	0.29283	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.422882	0.68520	25.2	0.99730503470414233	0.82761	0.99767	0.99318	D	AEFBIJ	0.933333	0.92508	D	0.423556767754869	0.62721	4.492626	0.378954196440307	0.60267	4.212595	0.999999999999999	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	9.902000	0.98627	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.401000	0.26804	0.0:0.0:1.0:0.0	19.827	0.96619	963	0.08280	AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2017.33	41	chr4	184757844	.	G	A	2017.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=825;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.651;SOR=0.506	GT:AD:DP:GQ:PL	0/1:93,83:176:99:2031,0,2205	18	0	1	0
chr4	186083654	186083654	G	A	exonic	TLR3	.	stopgain	TLR3:NM_003265:exon4:c.G1968A:p.W656X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.588e-06	0	8.663e-05	0	0	0	0	0	6.5e-06	1	154602	rs770094473	6.923e-07	6.84e-07	0	1.396e-06	2.34e-05	0	0	.	.	0	2.34e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.969	0.98065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554705	0.95996	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.331577	0.98785	40	0.99653575405758044	0.77442	0.99409	0.95660	D	AEFDBI	.	.	.	0.981153852402103	0.95136	13.34062	0.862235954535892	0.93711	12.22641	0.999999999985029	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.03	6.03	0.97798	10.003000	0.99689	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	20.575	0.99368	648	0.63242	Cysteine-rich flanking region, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3594.33	71	chr4	186083654	.	G	A	3594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.54;DP=1492;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-1.7;SOR=0.582	GT:AD:DP:GQ:PL	0/1:103,129:232:99:3608,0,2812	18	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.02632	374.33	39	chr5	840546	.	A	G	374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.283;DP=1251;ExcessHet=0;FS=7.307;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.89;MQRankSum=-19.33;QD=0.88;ReadPosRankSum=-3.298;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:385,38:423:99:0|1:840529_G_C:388,0,15724:840529	18	0	1	0
chr5	13900212	13900212	G	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon15:c.C2253A:p.N751K	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1448	72	2	0	76	0.025572	.	.	.	173703	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_3	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0042	0.00798722	0.0102	0.0008	0.0052	0.0028	0.0038	0.0071	0.0088	0.0385	0.0093401	1444	154602	rs115004914	0.0073	0.0074	0.0061	0.0085	0.0410	0.0072	0.0071	0.0380	0.0376	0.0018	0.0054	0.0136	0.0011	0.0030	0.0410	0.0050	0.0092	0.0391	0.0052	0.0052	0.0046	0.0057	0.0332	0.0049	0.0047	0.0290	0.0274	0.0009	0	0.0077	0.0135	0.0023	0.0012	0.0306	0.0056	0.0057	0.0332	0.981	0.02004	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.032430	0.25031	N	0.480603	0.849946	0.28511	N	-0.085	0.04774	N	0.49	0.55775	T	-0.59	0.17624	N	0.158	0.16447	-1.0150	0.25336	T	0.041	0.17657	T	10	0.0028903186	0.00046	T	.	.	.	0.084	0.24469	0.578	0.70347	.	.	0.20929337985335666	0.20845	0.340553000604	0.35994	0.36459928751	0.20054	T	0.045103	0.27019	T	-0.633746	0.00091	T	-0.654541	0.08639	T	0.0114647865171174	0.00172	T	0.562444	0.19755	T	0.05629839	0.11056	0.061138283	0.11758	0.05629839	0.11056	0.061138283	0.11758	-4.293	0.28079	T	0.05614227209307895	0.01287	0.138	0.30184	B	.	.	2.011412	0.25557	16.81	0.72565165752983651	0.10018	0.65932	0.32904	D	AEFI	0.117440	0.23006	N	-0.638735665786539	0.17789	0.9183943	-0.443612577236373	0.23731	1.295656	0.813525907050886	0.24398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	1.29	0.20717	0.655000	0.24618	2.679000	0.34003	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.3395:0.0:0.4694:0.1911	5.168	0.14421	754	0.51307	Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	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	0.046828	0.060606	0.057065	0.026316	0.100000	0.086207	0.021341	0.034091	0.02632	4478.33	33	chr5	13900212	.	G	T	4478.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.76;DP=1173;ExcessHet=0;FS=0.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.808;SOR=0.743	GT:AD:DP:GQ:PL	0/1:192,165:357:99:4492,0,5004	18	0	1	0
chr5	35646682	35646682	A	G	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon5:c.A601G:p.R201G,SPEF2:NM_144722:exon5:c.A601G:p.R201G	.	436	1032	52	2	0	56	0.0264151	.	.	.	3185083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0058	0.00878594	0.0089	0.0011	0.0049	0.0003	0.0018	0.0066	0.0122	0.0331	0.0081694	1263	154602	rs80010329	0.0081	0.0082	0.0073	0.0090	0.0339	0.0080	0.0080	0.0328	0.0324	0.0011	0.0066	0.0021	2.524e-05	0.0020	0.0295	0.0071	0.0077	0.0339	0.0059	0.0059	0.0057	0.0061	0.0312	0.0055	0.0054	0.0272	0.0256	0.0012	0.0033	0.0092	0.0023	0.0008	0.0011	0.0102	0.0075	0.0071	0.0312	0.007	0.61437	D	0.011	0.69154	D	0.999	0.77913	D	0.936	0.79672	D	0.000010	0.62929	D	0.106914	0.975574	0.39200	D	2.585	0.75554	M	2.44	0.23082	T	-4.01	0.76576	D	0.669	0.69125	-0.9723	0.36712	T	0.104	0.38144	T	10	0.0059509277	0.00133	T	.	.	.	0.128	0.35103	.	.	0.280181792013	0.27631	0.34883728264109054	0.34797	0.0598001417922	0.06652	0.390581935644	0.23751	T	0.126954	0.67848	T	-0.279306	0.10741	T	-0.149605	0.59278	T	0.0231520665780728	0.01041	T	0.890711	0.64723	D	0.26254478	0.49316	0.36515856	0.61870	0.26254478	0.49316	0.36515856	0.61870	-7.081	0.55796	T	.	.	0.324	0.58942	B	.;.;.;.;.;.	.;.;.;.;.;.	4.926798	0.81191	27.5	0.99854414740950403	0.93368	0.93860	0.59400	D	AEFI	0.746136	0.68860	D	0.686472731394631	0.78746	6.934124	0.683200252497875	0.81105	7.449289	0.988114933324361	0.31422	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	5.017000	0.63813	11.264000	0.91177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8504:0.1496:0.0:0.0	11.533	0.49870	581	0.69614	.;.;.;.;.;.	.	.	.	.	.	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	0.024673	0.010101	0.025815	0.017544	0.000000	0.051724	0.012195	0.060606	0.05263	1435.83	33	chr5	35646682	.	A	G	1435.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.476;DP=736;ExcessHet=0.119;FS=4.795;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.174;SOR=1.068	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1054,0,1033	17	0	2	0
chr5	38506006	38506006	A	C	exonic	LIFR	.	nonsynonymous SNV	LIFR:NM_001127671:exon9:c.T1190G:p.F397C,LIFR:NM_001364297:exon9:c.T1190G:p.F397C,LIFR:NM_001364298:exon9:c.T1190G:p.F397C,LIFR:NM_002310:exon9:c.T1190G:p.F397C	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	161	1360	1	0	0	1	0.000367512	.	.	.	1875130	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.00906075082792	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001488	23	154602	rs369830202	8.446e-05	8.688e-05	4.51e-05	0.0001	0.0014	7.23e-05	6.775e-05	0.0012	0.0011	0	0	0	0	0	0	9.024e-07	3.325e-05	0.0014	5.253e-05	5.25e-05	1.285e-05	9.4e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.18	0.21968	T	0.192	0.28300	T	0.062	0.23277	B	0.024	0.20255	B	0.429317	0.12768	N	0.760646	0.735252	0.29789	N	2.455	0.71248	M	1.03	0.40469	T	-1.66	0.39692	N	0.878	0.87917	-0.9385	0.42853	T	0.122	0.42336	T	10	0.25957292	0.43397	T	0.009061	0.23845	T	0.125	0.34456	0.364	0.37036	0.635445006688	0.63245	0.8348163589864112	0.83440	0.164863425096	0.18598	0.555943012238	0.46695	T	0.574479	0.85965	D	-0.254547	0.13546	T	-0.173794	0.57095	T	0.105957776645514	0.13001	T	0.69513	0.30474	T	0.34713235	0.56844	0.13818163	0.33008	0.34713235	0.56844	0.13818163	0.33007	-6.172	0.47696	T	.	.	0.642	0.70584	P	.;.	.;.	3.516872	0.49280	22.8	0.79257710114422297	0.12660	0.97216	0.73376	D	AEFBI	0.585277	0.58377	D	-0.124927971501976	0.36309	2.097041	-0.0455493643782265	0.37685	2.209756	0.999959461090587	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.45	5.45	0.79688	5.331000	0.65681	9.255000	0.79518	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	1.0:0.0:0.0:0.0	12.881	0.57408	483	0.77230	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	592.33	38	chr5	38506006	.	A	C	592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=683;ExcessHet=0;FS=0.987;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-0.028;SOR=0.497	GT:AD:DP:GQ:PL	0/1:37,26:63:99:606,0,843	18	0	1	0
chr5	41067157	41067157	A	G	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon3:c.T152C:p.I51T	.	432	1068	22	0	0	22	0.0101946	.	.	.	2827747	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.140	.	0.0032	0.00139776	0.0046	0.0012	0.0124	0.0021	0.0030	0.0079	0	0.0011	0.0024256	375	154602	rs139046598	0.0040	0.0039	0.0039	0.0040	0.0151	0.0039	0.0038	0.0125	0.0116	0.0010	0.0041	0.0041	8.134e-05	0.0020	0.0151	0.0044	0.0046	0.0014	0.0033	0.0033	0.0038	0.0028	0.0049	0.0031	0.0030	0.0045	0.0043	0.0007	0.0088	0.0041	0.0078	0	0.0019	0	0.0049	0.0085	0.0010	1.0	0.00964	T	0.075	0.42794	T	0.763	0.43659	P	0.124	0.32546	B	0.000544	0.43413	D	0.102200	0.730222	0.29837	N	0.55	0.14455	N	3.33	0.06138	T	1.92	0.00446	N	0.484	0.51851	-0.9958	0.31082	T	0.007	0.02321	T	10	0.008872449	0.00201	T	.	.	.	0.140	0.37593	.	.	0.0401082797425	0.02173	0.1837378652742792	0.18292	0.0221077488576	0.02218	0.51305860281	0.40650	T	4.31E-4	0.00146	T	-0.476274	0.00778	T	-0.456233	0.27012	T	0.0495012634142112	0.05412	T	0.652235	0.26282	T	0.07199188	0.15981	0.08271769	0.18901	0.07199188	0.15981	0.08271769	0.18901	-3.281	0.13493	T	.	.	0.088	0.11893	B	.	.	2.405829	0.30914	18.58	0.65024537618163636	0.07656	0.67945	0.33618	D	AEFI	0.148263	0.27211	N	0.0459839042034965	0.43958	2.678706	0.195763041866058	0.49614	3.16252	0.00957297521984015	0.11878	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	4.83	0.61880	1.833000	0.38801	5.333000	0.48324	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.989000	0.64315	0.9068:0.0:0.0932:0.0	8.849	0.34348	425	0.81160	.	.	.	.	.	.	Likely benign	0	0	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	0.008097	0.005051	0.008197	0.005848	0.000000	0.008621	0.015432	0.007634	0.02632	1294.33	33	chr5	41067157	.	A	G	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.537;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.726;SOR=0.748	GT:AD:DP:GQ:PL	0/1:40,52:92:99:1308,0,1074	18	0	1	0
chr5	54985490	54985490	G	A	exonic	ESM1	.	nonsynonymous SNV	ESM1:NM_001135604:exon1:c.C28T:p.L10F,ESM1:NM_007036:exon1:c.C28T:p.L10F	.	430	1087	4	1	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0029	0.00499201	0.0020	0.0086	0.0046	0	0	0.0013	0.0059	0.0008	0.0018758	290	154602	rs142082865	0.0012	0.0012	0.0012	0.0012	0.0204	0.0012	0.0011	0.0174	0.0163	0.0069	0.0041	0.0082	2.541e-05	1.894e-05	0.0204	0.0007	0.0030	0.0008	0.0031	0.0031	0.0033	0.0029	0.0076	0.0029	0.0028	0.0069	0.0066	0.0076	0	0.0035	0.0115	0	0	0.0068	0.0008	0.0043	0.0004	0.091	0.31834	T	0.129	0.34837	T	0.289	0.32288	B	0.048	0.24975	B	0.000200	0.48115	D	0.142736	0.999981	0.54805	D	2.405	0.69568	M	.	.	.	-1.22	0.31170	N	0.292	0.33030	-0.8378	0.52793	T	0.153	0.48188	T	9	0.0085989535	0.00195	T	.	.	.	0.077	0.22490	.	.	0.184867976434	0.18130	0.5334456563168988	0.53269	1.61682442182	0.89012	0.40306198597	0.25495	T	0.041605	0.25913	T	-0.33942	0.05429	T	-0.256325	0.49189	T	0.0155705211096394	0.00355	T	0.764923	0.39208	T	0.08280162	0.19091	0.10984461	0.26479	0.08280162	0.19091	0.10984461	0.26478	-4.998	0.38666	T	.	.	0.077	0.06250	B	.;.;.	.;.;.	3.059747	0.41082	21.3	0.93920670122301297	0.23962	0.88168	0.47977	D	ALL	0.666670	0.63505	D	0.0497301230809387	0.44130	2.692704	0.128089132141046	0.45991	2.852636	0.999999999999905	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.56214	0.19341	0	.	.	5.66	4.78	0.60666	4.417000	0.59573	7.337000	0.58231	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.142:0.0:0.858:0.0	11.108	0.47437	402	0.82617	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027190	0.060606	0.027174	0.052632	0.050000	0.025862	0.000000	0.003788	0.02632	638.33	34	chr5	54985490	.	G	A	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=683;ExcessHet=0;FS=4.273;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.132;SOR=0.259	GT:AD:DP:GQ:PL	0/1:31,25:56:99:652,0,887	18	0	1	0
chr5	55691189	55691189	C	T	exonic	SLC38A9	.	nonsynonymous SNV	SLC38A9:NM_001258287:exon2:c.G32A:p.R11Q	.	435	1084	3	0	0	3	0.00138185	0.0001	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	.	0.00339457	0.0059	0	0	0	0	0.0003	0.0076	0.0093	0.0005951	92	154602	rs369352002	0.0009	0.0006	0.0005	0.0012	0.0091	0.0008	0.0008	0.0084	0.0082	5.413e-05	5.735e-05	0	0	0	0.0002	8.734e-06	0.0007	0.0091	0.0004	0.0004	0.0002	0.0007	0.0118	0.0003	0.0003	0.0094	0.0085	7.222e-05	0	6.541e-05	0	0	0	0	2.94e-05	0.0005	0.0118	0.01	0.56456	D	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	1.14	0.38397	T	-0.68	0.19509	N	0.118	0.10769	-1.0450	0.15825	T	0.068	0.27980	T	7	0.007926911	0.00180	T	.	.	.	0.111	0.31313	0.589	0.71749	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.65254	0.00070	T	-0.703991	0.05610	T	0.017870317766623	0.00514	T	0.407759	0.10493	T	.	.	.	.	.	.	.	.	-3.77	0.20357	T	.	.	0.177	0.38693	B	.	.	0.221779	0.06040	2.482	0.97479543025210413	0.34183	0.01220	0.04328	N	AEFBI	0.110538	0.21916	N	-0.907434038785117	0.10667	0.5108523	-1.10990290002638	0.07510	0.365601	0.988572101044222	0.31561	0.57788	0.32782	0	0.593476	0.48661	0	0.475579	0.07313	0	0.613276	0.41899	0	.	.	3.39	-0.437	0.11659	0.132000	0.15716	0.167000	0.15474	-2.377000	0.00301	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.4087:0.4116:0.0:0.1797	4.828	0.12789	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	0	0	.	.	.	.	.	.	.	.	0.02632	1101.33	53	chr5	55691189	.	C	T	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=837;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.644;SOR=0.909	GT:AD:DP:GQ:PL	0/1:72,49:121:99:1115,0,1607	18	0	1	0
chr5	55910570	55910570	G	A	exonic	IL31RA	.	nonsynonymous SNV	IL31RA:NM_001242636:exon12:c.G1483A:p.E495K,IL31RA:NM_001242637:exon12:c.G1540A:p.E514K,IL31RA:NM_139017:exon12:c.G1540A:p.E514K,IL31RA:NM_001242639:exon13:c.G1114A:p.E372K,IL31RA:NM_001242638:exon14:c.G1483A:p.E495K	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0300446041285	0.0012	0.00179712	0.0009	0.0034	0.0029	0	0	0.0006	0.0022	0.0002	0.0009185	142	154602	rs113369650	0.0007	0.0007	0.0007	0.0007	0.0111	0.0006	0.0006	0.0089	0.0081	0.0031	0.0039	3.826e-05	0	0	0.0111	0.0005	0.0022	0.0002	0.0016	0.0016	0.0017	0.0016	0.0041	0.0015	0.0014	0.0033	0.0030	0.0033	0	0.0041	0	0	0	0.0170	0.0005	0.0047	0.0002	0.029	0.45756	D	0.0	0.92824	D	0.884	0.48618	P	0.54	0.48825	P	0.108006	0.19545	N	0.554060	0.94322	0.26728	N	.	.	.	0.41	0.57100	T	-1.65	0.39503	N	0.113	0.16586	-0.8852	0.49340	T	0.183	0.53148	T	10	0.0093584955	0.00211	T	0.030045	0.52439	D	0.202	0.48754	.	.	0.301455362545	0.29754	.	.	0.154396533391	0.17441	0.350457757711	0.17989	T	.	.	.	-0.456271	0.01036	T	-0.430284	0.29903	T	0.0214538987493933	0.00849	T	0.79572	0.44511	T	.	.	.	.	.	.	.	.	-5.377	0.41709	T	.	.	0.104	0.22171	B	.;.;.;.;.;.	.;.;.;.;.;.	2.576199	0.33391	19.33	0.99844243310187597	0.92403	0.63633	0.32150	D	AEFBI	0.084891	0.17208	N	0.126231928112726	0.47689	2.99111	0.0786502570247455	0.43475	2.648606	0.997263515537457	0.35436	0.615465	0.37627	0	0.547309	0.14657	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.01	3.2	0.35826	2.264000	0.42959	3.147000	0.36508	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.763000	0.36255	0.1802:0.1713:0.6485:0.0	5.214	0.14653	891	0.26808	.;.;.;.;.;.	.	.	.	.	.	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	0.014099	0.035354	0.014946	0.014620	0.050000	0.034483	0.000000	0.003788	0.02632	877.33	33	chr5	55910570	.	G	A	877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.144;DP=726;ExcessHet=0;FS=1.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-1.184;SOR=0.914	GT:AD:DP:GQ:PL	0/1:50,38:88:99:891,0,1294	18	0	1	0
chr5	67183240	67183240	C	G	exonic	CD180	.	nonsynonymous SNV	CD180:NM_005582:exon3:c.G1603C:p.D535H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0302429804276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	4.084e-06	6.876e-06	0.0003	2.35e-06	1.7e-06	6.096e-05	2.522e-05	5.974e-05	0	0	0	0	0.0003	0	4.968e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.335	0.18286	T	0.831	0.46109	P	0.331	0.42107	B	0.493606	0.05050	N	1.318910	1	0.08975	N	1.995	0.54099	M	0.42	0.56937	T	-0.69	0.19720	N	0.116	0.10483	-0.9023	0.47749	T	0.111	0.39912	T	10	0.16455913	0.30782	T	0.030243	0.52598	D	0.058	0.16647	.	.	0.716849003213	0.71436	0.3032965129840336	0.30242	0.202067841752	0.22620	0.244355380535	0.03197	T	0.048609	0.28067	T	-0.256232	0.13345	T	-0.605836	0.12326	T	0.167713921517034	0.18423	T	0.734627	0.35069	T	0.12790844	0.29918	0.07742915	0.17249	0.12790844	0.29917	0.07742915	0.17248	-3.775	0.20432	T	.	.	0.102	0.17785	B	.	.	-0.139396	0.03414	0.620	0.54542589138377984	0.05159	0.02870	0.07642	N	AEFDBI	0.060966	0.11623	N	-0.792829276673724	0.13496	0.6652633	-1.03626404013561	0.08995	0.4451462	0.999998814246035	0.74766	0.536767	0.22168	0	0.383324	0.06291	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.95	-6.85	0.01521	-0.215000	0.09284	-1.785000	0.04731	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.1613:0.1418:0.0788:0.6181	4.301	0.10369	954	0.10045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1819.33	33	chr5	67183240	.	C	G	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.292;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.6;SOR=0.663	GT:AD:DP:GQ:PL	0/1:66,69:135:99:1833,0,1679	18	0	1	0
chr5	72444271	72444271	C	T	exonic	ZNF366	.	nonsynonymous SNV	ZNF366:NM_152625:exon5:c.G1720A:p.A574T	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0051	0.00199681	0.0058	0.0012	0.0023	0	0.0209	0.0066	0.0094	0.0040	0.0054398	841	154602	rs148129425	0.0061	0.0061	0.0061	0.0060	0.0129	0.0060	0.0059	0.0105	0.0097	0.0012	0.0027	0.0084	0	0.0199	0.0129	0.0060	0.0060	0.0032	0.0057	0.0057	0.0057	0.0058	0.0074	0.0054	0.0053	0.0068	0.0066	0.0011	0	0.0044	0.0104	0	0.0176	0.0170	0.0074	0.0062	0.0037	0.138	0.25873	T	0.173	0.30143	T	0.004	0.12183	B	0.002	0.06944	B	0.014768	0.28435	N	0.343284	1	0.08975	N	0.9	0.23182	L	3.04	0.08810	T	-0.65	0.18877	N	0.03	0.00717	-0.9319	0.43859	T	0.010	0.03492	T	10	0.0034471452	0.00061	T	.	.	.	0.028	0.06331	.	.	0.0675242888579	0.06100	0.18513061261576036	0.18431	0.0206609702468	0.02037	0.305955350399	0.11296	T	0.012296	0.10832	T	-0.741775	0.00020	T	-0.827897	0.01300	T	0.00561829153820991	0.00061	T	0.456654	0.13107	T	0.027341094	0.01911	0.044071835	0.05627	0.027341094	0.01911	0.044071835	0.05627	-3.975	0.23428	T	.	.	0.070	0.03552	B	.	.	1.602993	0.20489	14.77	0.9568865245413829	0.27562	0.08312	0.14257	N	AEFDBI	0.134959	0.25514	N	-1.21432684005007	0.04791	0.2170024	-1.18114581908896	0.06225	0.2989571	0.999965224159827	0.48965	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.87	2.13	0.26445	0.216000	0.17370	-0.532000	0.08630	-0.813000	0.03045	0.024000	0.20007	0.000000	0.08366	0.088000	0.17685	0.1254:0.5497:0.0:0.3249	5.297	0.15070	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.013587	0.008772	0.000000	0.008621	0.003049	0.007576	0.02632	1055.33	41	chr5	72444271	.	C	T	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.628;DP=788;ExcessHet=0;FS=0.858;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.526;SOR=0.805	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1069,0,798	18	0	1	0
chr5	73568253	73568253	G	A	exonic	UTP15	.	nonsynonymous SNV	UTP15:NM_032175:exon3:c.G109A:p.E37K	.	.	.	.	.	.	.	.	.	.	.	2214965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.457	0.0442996656848	0.0003	0.000199681	0.0003	0.0002	8.685e-05	0	0.0003	0.0004	0.0011	0.0005	0.000304	47	154602	rs190252235	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	6.003e-05	0.0002	0	5.049e-05	0.0002	0.0002	0.0008	0.0008	0.0008	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0004	0.0002	0	0.0005	0	0	0.0002	0	0.0006	0	0.0008	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.34	0.90961	M	0.37	0.57729	T	-3.84	0.72240	D	0.709	0.71232	-0.1923	0.77870	T	0.407	0.75685	T	10	0.39274484	0.55010	T	0.044	0.61417	D	0.457	0.75551	.	.	0.462259749948	0.45850	0.7008692111700826	0.70027	1.10287884835	0.77784	0.882419705391	0.94284	D	0.185277	0.53820	T	-0.0773507	0.40144	T	0.0233789	0.71850	D	0.476099461317062	0.31754	T	0.950905	0.81262	D	0.65848637	0.75818	0.47516927	0.69586	0.65848637	0.75819	0.47516927	0.69586	-11.488	0.82267	D	.	.	0.878	0.90700	P	.;.	.;.	5.537186	0.91929	32	0.99886080627514284	0.96126	0.98146	0.79995	D	AEFBI	0.860099	0.77790	D	0.910026998484657	0.92242	11.31233	0.870195985505491	0.94138	12.53302	0.999999999999998	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.55	5.55	0.83298	7.774000	0.84234	11.829000	0.97466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.509	0.95124	961	0.08552	.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	698.33	34	chr5	73568253	.	G	A	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=673;ExcessHet=0;FS=2.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.734;SOR=1.258	GT:AD:DP:GQ:PL	0/1:22,27:49:99:712,0,562	18	0	1	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T,ANKRD31:NM_001372053:exon18:c.G4027A:p.A1343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	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	.	.	.	.	.	.	.	.	0.1389	920.7	35	chr5	75118147	.	C	T	920.7	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-2.889;DP=1710;ExcessHet=1.3;FS=99.544;InbreedingCoeff=-0.1753;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.07;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,17:145:75:0|1:75118147_C_T:75,0,4597:75118147	13	0	5	1
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,21:116:45:.:.:45,0,2174:.	9	0	10	0
chr5	76285243	76285243	C	T	exonic	SV2C	.	nonsynonymous SNV	SV2C:NM_001297716:exon5:c.C995T:p.S332F,SV2C:NM_014979:exon5:c.C995T:p.S332F	.	424	1074	23	1	0	25	0.0115048	.	.	.	2827844	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.0163521778605	0.0053	0.00219649	0.0046	0.0003	0.0023	0	0.0021	0.0061	0.0078	0.0060	0.0047153	729	154602	rs149463986	0.0059	0.0059	0.0057	0.0060	0.0113	0.0058	0.0057	0.0091	0.0083	0.0008	0.0027	0.0011	2.519e-05	0.0030	0.0113	0.0067	0.0045	0.0060	0.0042	0.0042	0.0043	0.0040	0.0068	0.0039	0.0038	0.0063	0.0061	0.0010	0	0.0039	0.0012	0	0.0023	0.0170	0.0068	0.0062	0.0054	0.175	0.22400	T	0.189	0.29843	T	0.0	0.02946	B	0.005	0.11217	B	0.022539	0.26616	N	0.412562	0.99982	0.49512	D	0.02	0.07987	N	0.39	0.57419	T	-0.57	0.18042	N	0.469	0.50598	-1.0600	0.11756	T	0.041	0.17742	T	10	0.009606004	0.00216	T	0.016352	0.37564	T	0.077	0.22490	.	.	0.405012372841	0.40113	0.8780365303129526	0.87770	0.166212738228	0.18754	0.5557076931	0.46661	T	0.054647	0.40875	T	-0.485639	0.00687	T	-0.463824	0.26184	T	0.00728564009858904	0.00083	T	0.660434	0.26965	T	0.07924424	0.18093	0.09455559	0.22386	0.07924424	0.18093	0.09455559	0.22386	-8.641	0.65359	D	.	.	0.071	0.17146	B	.;.	.;.	1.096062	0.14803	11.34	0.96057149006519471	0.28582	0.21526	0.21433	N	AEFI	0.212130	0.33785	N	-1.16349295452205	0.05561	0.2538508	-1.09862833464109	0.07728	0.3770321	0.0243861509171772	0.13575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.75	-2.21	0.06581	0.447000	0.21428	-0.860000	0.07144	-0.305000	0.06155	0.097000	0.22731	0.000000	0.08366	0.990000	0.65344	0.0:0.3758:0.559:0.0652	13.509	0.60956	906	0.23090	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.006793	0.002924	0.000000	0.000000	0.012195	0.003788	0.02632	2172.33	38	chr5	76285243	.	C	T	2172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.66;DP=800;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.19;SOR=0.768	GT:AD:DP:GQ:PL	0/1:84,83:167:99:2186,0,1971	18	0	1	0
chr5	79799546	79799546	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon13:c.C12140T:p.A4047V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.0664230145224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.037	0.51737	D	0.996	0.68779	D	0.945	0.68163	D	.	.	.	.	0.999893	0.50595	D	1.4	0.35362	L	-0.38	0.69027	T	-2.71	0.57762	D	0.709	0.71232	-0.3066	0.74801	T	0.379	0.73587	T	9	0.84493357	0.83656	D	0.066423	0.69870	D	0.472	0.76554	0.76	0.88892	0.533614126537	0.53011	0.4911492046690527	0.49035	0.33197734677	0.35261	0.530116558075	0.43050	T	0.066126	0.32865	T	0.130093	0.67370	D	-0.0509064	0.66961	D	0.930962383747101	0.59601	D	0.79842	0.44325	T	0.208296	0.43061	0.25217816	0.50842	0.208296	0.43061	0.25217816	0.50842	-5.667	0.43399	T	.	.	0.439	0.61654	A	.	.	4.053130	0.60094	24.2	0.99879110541977578	0.95572	0.88070	0.47840	D	AEFBI	0.385258	0.46607	N	0.642481144038483	0.75883	6.385366	0.668385866541627	0.79988	7.199791	0.999916452027007	0.45857	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.99	5.99	0.97299	2.304000	0.43315	7.673000	0.64890	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0:0.931:0.0:0.069	14.602	0.68048	516	0.74704	B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1121.33	35	chr5	79799546	.	C	T	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.469;DP=710;ExcessHet=0;FS=4.253;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.07;SOR=0.368	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1135,0,1051	18	0	1	0
chr5	80558798	80558798	T	C	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.A1222G:p.K408E	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0052	0.00519169	0.0015	0.0164	0.0006	0	0	4.498e-05	0.0022	0	0.0014101	218	154602	rs149898495	0.0005	0.0005	0.0006	0.0003	0.0165	0.0004	0.0004	0.0154	0.0150	0.0165	0.0009	0	0	0	0.0009	7.194e-06	0.0009	4.638e-05	0.0047	0.0047	0.0049	0.0045	0.0161	0.0044	0.0043	0.0151	0.0147	0.0161	0	0.0023	0	0	0	0	2.94e-05	0.0047	0	0.005	0.63226	D	0.103	0.38305	T	0.919	0.50927	P	0.375	0.43710	B	0.000170	0.48594	U	0.074451	0.983449	0.40015	D	2.19	0.61577	M	2.2	0.18570	T	-1.44	0.35399	N	0.208	0.23125	-1.1382	0.01427	T	0.030	0.12760	T	10	0.0033808947	0.00059	T	.	.	.	0.069	0.20116	.	.	0.31291088546	0.30898	0.40553208068515195	0.40469	0.211339346055	0.23642	0.385599881411	0.23047	T	0.036236	0.24027	T	-0.520365	0.00438	T	-0.507271	0.21597	T	0.0331483546271928	0.02497	T	0.767723	0.39623	T	0.22721113	0.45417	0.2636781	0.52177	0.22721113	0.45417	0.2636781	0.52176	-2.864	0.08788	T	.	.	0.124	0.25946	B	.	.	2.634715	0.34271	19.58	0.99499342846332661	0.67916	0.97893	0.77924	D	AEFBI	0.767902	0.70362	D	0.276144052896365	0.54942	3.658775	0.295085807309439	0.55252	3.688393	0.999928642228343	0.46280	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.63	5.63	0.86108	4.438000	0.59704	5.845000	0.50284	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.159000	0.20615	0.0:0.0:0.0:1.0	14.685	0.68650	677	0.60274	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1522.33	34	chr5	80558798	.	T	C	1522.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.005;DP=740;ExcessHet=0;FS=4.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-2.03;SOR=1.148	GT:AD:DP:GQ:PL	0/1:50,64:114:99:1536,0,1395	18	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1959.77	54	chr5	80654889	.	TGCAGCGGCC	*	1959.77	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.317;DP=1361;ExcessHet=1.7862;FS=1.139;InbreedingCoeff=-0.0523;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=-0.052;SOR=0.811	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1440,0,1900	10	1	8	0
chr5	80654891	80654891	C	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	937.8	51	chr5	80654891	.	C	*	937.8	.	AC=10;AF=0.278;AN=36;DP=1313;ExcessHet=0.684;FS=0.544;InbreedingCoeff=0.1068;MLEAC=10;MLEAF=0.278;MQ=60;QD=1.26;SOR=0.657	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1440,0,1900	9	1	8	1
chr5	96909661	96909661	C	T	exonic	ERAP2	.	nonsynonymous SNV	ERAP2:NM_001329229:exon14:c.C2116T:p.R706C,ERAP2:NM_001130140:exon15:c.C2251T:p.R751C,ERAP2:NM_022350:exon15:c.C2251T:p.R751C	.	423	1068	30	1	0	32	0.0147601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0022	0.00259585	0.0052	0.0003	0.0021	0.0002	0.0006	0.0049	0.0044	0.0164	0.0045795	708	154602	rs150892504	0.0033	0.0033	0.0028	0.0038	0.0158	0.0033	0.0032	0.0151	0.0148	0.0004	0.0018	0.0385	0.0001	0.0004	0.0078	0.0018	0.0055	0.0158	0.0031	0.0031	0.0030	0.0032	0.0149	0.0029	0.0028	0.0122	0.0111	0.0002	0	0.0025	0.0444	0.0002	0.0008	0.0034	0.0027	0.0028	0.0149	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.022061	0.26710	N	0.280964	0.92599	0.27179	N	2.87	0.83286	M	2.81	0.10975	T	-6.92	0.93366	D	0.638	0.68516	-1.1005	0.04032	T	0.062	0.25672	T	10	0.0074153244	0.00169	T	.	.	.	0.113	0.31778	.	.	0.423836183345	0.42003	0.7413116271350302	0.74077	0.350673031715	0.36916	0.247451037169	0.03503	T	0.253365	0.62388	T	-0.413049	0.01897	T	-0.352467	0.38923	T	0.0670174336671241	0.08225	T	0.946205	0.79675	D	0.8009617	0.83967	0.6122098	0.77437	0.8009617	0.83968	0.6122098	0.77438	-11.784	0.83782	D	.	.	0.228	0.56940	B	.;.	.;.	3.875609	0.56290	23.7	0.99841468348688689	0.92229	0.31897	0.24452	N	AEFDBI	0.118727	0.23203	N	0.0302868426186225	0.43236	2.620531	-0.199176689593356	0.31568	1.787695	0.940989990517817	0.27456	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.05	0.00326	0.13376	2.004000	0.40474	0.064000	0.14171	0.530000	0.24713	0.877000	0.30928	0.000000	0.08366	0.724000	0.34901	0.0:0.5387:0.2896:0.1717	6.130	0.19420	910	0.22284	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	1	0	0	0	0.009063	0.000000	0.008152	0.005848	0.000000	0.017241	0.012195	0.015152	0.02632	1577.33	58	chr5	96909661	.	C	T	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=1281;ExcessHet=0;FS=4.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.669;SOR=0.478	GT:AD:DP:GQ:PL	0/1:42,62:104:99:1591,0,837	18	0	1	0
chr5	103201606	103201606	A	G	exonic	PPIP5K2	.	nonsynonymous SNV	PPIP5K2:NM_001345875:exon28:c.A3347G:p.H1116R,PPIP5K2:NM_001345877:exon28:c.A3344G:p.H1115R,PPIP5K2:NM_001345874:exon29:c.A3467G:p.H1156R,PPIP5K2:NM_001345876:exon29:c.A3521G:p.H1174R,PPIP5K2:NM_001345878:exon29:c.A3518G:p.H1173R,PPIP5K2:NM_001345871:exon30:c.A3530G:p.H1177R,PPIP5K2:NM_015216:exon30:c.A3641G:p.H1214R,PPIP5K2:NM_001276277:exon31:c.A3704G:p.H1235R,PPIP5K2:NM_001345872:exon31:c.A3575G:p.H1192R,PPIP5K2:NM_001345873:exon31:c.A3701G:p.H1234R,PPIP5K2:NM_001281471:exon33:c.A3809G:p.H1270R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00708051341061	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400950075	6.882e-07	2.052e-06	1.37e-06	0	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.656	0.12592	T	0.555	0.17585	T	0.002	0.09854	B	0.004	0.10090	B	0.292129	0.14749	N	0.630018	0.999722	0.20581	N	.	.	.	2.56	0.23283	T	-0.24	0.29727	N	0.213	0.31702	-1.0102	0.26854	T	0.035	0.15074	T	10	0.050245166	0.04729	T	0.007081	0.18759	T	0.027	0.05988	0.215	0.13498	0.146414634003	0.14194	0.14345033213394048	0.14268	0.198612472102	0.22241	0.538228809834	0.44195	T	0.009353	0.08516	T	-0.183677	0.23190	T	-0.501616	0.22181	T	0.386977523565292	0.28450	T	0.933907	0.75239	D	0.027640374	0.01986	0.028979288	0.01186	0.027640374	0.01985	0.028979288	0.01186	-2.066	0.03441	T	.	.	0.075	0.12037	B	.;.;.;.;.;.	.;.;.;.;.;.	2.464151	0.31747	18.84	0.9577008839645339	0.27775	0.39683	0.26267	N	AEFBI	0.150584	0.27490	N	-0.446749026933138	0.23851	1.283715	-0.281714633796438	0.28701	1.602259	2.22989104890556E-4	0.06048	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.52	2.88	0.32617	2.751000	0.47185	5.713000	0.49433	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.992000	0.67800	0.6595:0.2067:0.0:0.1339	6.884	0.23368	944	0.12746	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	504.33	24	chr5	103201606	.	A	G	504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.939;DP=617;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.36;SOR=0.657	GT:AD:DP:GQ:PL	0/1:21,23:44:99:518,0,526	18	0	1	0
chr5	111098750	111098750	C	T	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon4:c.C320T:p.A107V	Glaucoma 1, open angle, G	0	224	2	0	0	2	0.00444444	.	.	.	300293	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.200	0.0218489208818	0.0041	0.000599042	0.0041	0.0009	0.0017	0	0.0045	0.0065	0.0044	0.0002	0.0043014	665	154602	rs62376783	0.0064	0.0065	0.0064	0.0063	0.0077	0.0062	0.0062	0.0076	0.0075	0.0005	0.0023	0.0008	0	0.0046	0.0010	0.0077	0.0049	0.0006	0.0049	0.0049	0.0050	0.0048	0.0082	0.0046	0.0045	0.0076	0.0074	0.0013	0	0.0039	0.0014	0	0.0049	0	0.0082	0.0043	0.0012	.	.	.	0.303	0.20164	T	0.965	0.56013	D	0.722	0.54942	P	0.000186	0.48115	D	0.212003	0.99999	0.58761	D	2.47	0.71715	M	1.51	0.30937	T	-2.18	0.49187	N	0.565	0.58883	-0.7941	0.55491	T	0.147	0.47147	T	10	0.008305371	0.00188	T	0.021849	0.44673	T	0.200	0.48430	.	.	0.702407312311	0.69982	0.5166138579627413	0.51584	0.0315325930586	0.03265	0.480612486601	0.36141	T	0.297397	0.67000	T	-0.380323	0.03102	T	-0.309689	0.43693	T	0.0357670746625236	0.02939	T	0.860814	0.55431	D	0.3170807	0.54392	0.49780077	0.70961	0.53156793	0.68920	0.4647658	0.68936	-7.423	0.57066	T	0.3517979122660164	0.44895	0.158	0.39099	B	.;.;.	.;.;.	3.802786	0.54800	23.5	0.99896710388559984	0.96971	0.91434	0.53526	D	AEFBI	0.476523	0.51990	N	0.651867906520246	0.76489	6.496087	0.657180786403391	0.79148	7.021188	0.999999983101859	0.74766	0.75658	0.98901	0	0.743671	0.97443	0	0.743671	0.96076	0	0.656636	0.63459	0	.	.	5.72	5.72	0.89380	2.692000	0.46685	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.877	0.96878	877	0.30165	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1441.33	38	chr5	111098750	.	C	T	1441.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.096;DP=738;ExcessHet=0;FS=2.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.875;SOR=0.871	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1455,0,1177	18	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	625.71	48	chr5	119499449	.	T	C	625.71	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.063;DP=1334;ExcessHet=2.0135;FS=121.192;InbreedingCoeff=-0.1823;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.66;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,20:108:58:0|1:119499447_G_C:58,0,2296:119499447	13	0	6	0
chr5	119634664	119634664	G	T	exonic	FAM170A	.	stopgain	FAM170A:NM_001163991:exon2:c.G775T:p.E259X,FAM170A:NM_001367956:exon3:c.G916T:p.E306X,FAM170A:NM_182761:exon3:c.G916T:p.E306X	.	387	1134	1	0	0	1	0.000440723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	.	1.813e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs776332032	4.162e-06	4.788e-06	2.751e-06	5.597e-06	0.0005	1.5e-06	9.8e-07	0.0001	7.689e-05	0	0	0	0	0	0.0005	0	0	3.724e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617046	0.10813	N	0.797668	0.999988	0.54805	A	.	.	.	.	.	.	.	.	.	0.284	0.32259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204523	0.74316	D	0.281708	0.87216	D	0.688379942019189	0.40173	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	6.499053	0.95309	34	0.98899588437987496	0.48163	0.09175	0.14983	N	AEFDBI	0.055379	0.10152	N	0.413891742930688	0.62185	4.430447	0.0773660092820722	0.43413	2.643532	0.851986863085142	0.25062	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.31	3.43	0.38372	0.939000	0.28576	2.447000	0.32796	0.672000	0.70159	0.006000	0.17386	0.854000	0.27420	0.457000	0.28051	0.1091:0.0:0.8909:0.0	8.031	0.29626	950	0.11238	.;.;.	.	.	.	.	.	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	0.000514	0.000000	0.000000	0.003333	0.000000	0.000000	0.000000	0.000000	0.02632	991.33	36	chr5	119634664	.	G	T	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.983;DP=752;ExcessHet=0;FS=3.324;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.739;SOR=1.188	GT:AD:DP:GQ:PL	0/1:40,36:76:99:1005,0,1184	18	0	1	0
chr5	122077510	122077510	G	T	exonic	LOX	.	nonsynonymous SNV	LOX:NM_002317:exon1:c.C476A:p.P159Q	Aortic aneurysm, familial thoracic 10, Autosomal dominant	419	1080	22	1	0	24	0.010989	.	.	.	438857	Aortic_aneurysm,_familial_thoracic_10|Cardiovascular_phenotype|not_provided|not_specified	MONDO:MONDO:0014950,MedGen:C4284414,OMIM:617168|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.088	0.00982206914	0.0064	0.00179712	0.0055	0.0013	0.0028	0	0.0050	0.0085	0.0090	0.0010	0.0055303	855	154602	rs41407546	0.0090	0.0090	0.0092	0.0088	0.0120	0.0089	0.0088	0.0106	0.0106	0.0016	0.0040	0.0016	0	0.0048	0.0120	0.0108	0.0083	0.0011	0.0062	0.0062	0.0068	0.0056	0.0103	0.0059	0.0058	0.0097	0.0095	0.0019	0.0011	0.0050	0.0026	0	0.0051	0.0272	0.0103	0.0052	0.0010	0.008	0.58626	D	0.051	0.47828	T	0.41	0.35064	B	0.226	0.38054	B	0.178222	0.17175	N	0.580633	1	0.08975	N	1.39	0.34934	L	1.94	0.22678	T	-1.96	0.45404	N	0.156	0.16168	-1.0840	0.06591	T	0.037	0.15770	T	10	0.0066544116	0.00151	T	0.009822	0.25608	T	0.088	0.25558	.	.	0.260580752073	0.25663	0.5105584311464665	0.50977	0.876067885849	0.69571	0.449770927429	0.31912	T	0.362737	0.72859	T	-0.473313	0.00811	T	-0.445124	0.28237	T	0.0129947093401437	0.00225	T	0.546745	0.18722	T	0.0991288	0.23390	0.1298976	0.31223	0.12291992	0.28874	0.11399285	0.27514	-4.662	0.32941	T	0.110381530596629	0.09323	0.066	0.02370	B	.;.	.;.	1.640852	0.20944	14.98	0.86189750333999571	0.16372	0.07702	0.13705	N	AEFDGBCI	0.162385	0.28855	N	-1.02607228152956	0.08065	0.3768727	-1.05485551176085	0.08606	0.4239563	0.999997389867034	0.74766	0.685219	0.55550	0	0.609123	0.50646	0	0.674405	0.61402	0	0.56214	0.19341	0	.	.	4.3	3.42	0.38259	0.568000	0.23326	4.162000	0.42217	-0.282000	0.06404	0.057000	0.21666	1.000000	0.68203	0.583000	0.30967	0.0871:0.0:0.9129:0.0	13.238	0.59407	690	0.58899	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.014946	0.038012	0.000000	0.000000	0.003049	0.007576	0.02632	2898.33	34	chr5	122077510	.	G	T	2898.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.66;DP=874;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.37;SOR=0.682	GT:AD:DP:GQ:PL	0/1:120,106:226:99:2912,0,2920	18	0	1	0
chr5	124647117	124647117	C	A	exonic	ZNF608	.	nonsynonymous SNV	ZNF608:NM_001385621:exon4:c.G2403T:p.M801I,ZNF608:NM_001385619:exon5:c.G3267T:p.M1089I,ZNF608:NM_001385620:exon5:c.G3267T:p.M1089I,ZNF608:NM_020747:exon5:c.G3267T:p.M1089I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0160563100726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.20230	T	0.445	0.13140	T	0.4	0.34852	B	0.146	0.33945	B	0.000000	0.84330	D	0.078857	1	0.81001	D	2.215	0.62545	M	0.97	0.42888	T	-1.39	0.34397	N	0.549	0.57518	-1.0567	0.12595	T	0.106	0.38808	T	10	0.24053964	0.41214	T	0.016056	0.37127	T	0.112	0.31546	0.358	0.36060	0.283272178027	0.27931	0.23588787766958733	0.23503	0.649325956322	0.58251	0.677070856094	0.63850	T	0.049533	0.28333	T	0.0658462	0.60339	T	-0.143193	0.59840	T	0.773037467869633	0.44622	D	0.89891	0.68723	D	0.23061334	0.45820	0.24073468	0.49454	0.23061334	0.45820	0.24073468	0.49452	-11.367	0.82621	D	.	.	0.626	0.69962	P	.;.	.;.	3.399814	0.47116	22.4	0.99254378395343457	0.56989	0.91218	0.53092	D	AEFDBHCI	0.598312	0.59176	D	0.183878906239804	0.50424	3.232611	0.331736414531776	0.57415	3.906998	1.0	0.98316	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	3.188000	0.50658	7.710000	0.66754	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.905	0.97002	941	0.13089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1711.33	33	chr5	124647117	.	C	A	1711.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=722;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.537;SOR=0.992	GT:AD:DP:GQ:PL	0/1:41,57:98:99:1725,0,1064	18	0	1	0
chr5	126804847	126804847	C	T	exonic	LMNB1	.	nonsynonymous SNV	LMNB1:NM_005573:exon2:c.C431T:p.S144L	Leukodystrophy, adult-onset, autosomal dominant, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0703093704055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.31088	T	0.141	0.33442	T	0.705	0.41986	P	0.184	0.35999	B	0.000011	0.62929	D	0.115201	0.999892	0.50595	D	2.1	0.58353	M	-1.68	0.82897	D	-3.44	0.67941	D	0.446	0.48411	-0.0012	0.82232	T	0.476	0.79920	T	10	0.47336233	0.59996	T	0.070309	0.70968	D	0.332	0.65424	0.49	0.57573	0.577092586857	0.57378	0.15015988308722245	0.14937	0.406825415336	0.41554	0.678284347057	0.64022	T	0.890201	0.97763	D	0.0470572	0.57963	T	-0.170182	0.57427	T	0.96126127243042	0.66034	D	0.998561	0.99239	D	0.34482	0.56661	0.2800386	0.53977	0.34482	0.56661	0.2800386	0.53976	-9.097	0.68318	D	.	.	0.119	0.27192	B	.;.;.	.;.;.	4.643944	0.73957	26.1	0.99841007247166591	0.92143	0.95753	0.66008	D	AEFDBI	0.726940	0.67544	D	0.323511153239752	0.57357	3.902741	0.394575109313799	0.61231	4.320206	0.999999998371818	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635259	0.50027	0	.	.	5.15	5.15	0.70287	1.935000	0.39802	5.933000	0.51351	0.599000	0.40250	0.604000	0.27780	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.020	0.92891	472	0.77968	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	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1261.33	36	chr5	126804847	.	C	T	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=864;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.497;SOR=0.824	GT:AD:DP:GQ:PL	0/1:63,50:113:99:1275,0,1457	18	0	1	0
chr5	127754307	127754307	G	T	exonic	CCDC192	.	nonsynonymous SNV	CCDC192:NM_001317938:exon3:c.G154T:p.A52S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10498464	0.19382	T	.	.	.	.	.	.	.	.	.	0.021414468118719426	0.02094	.	.	.	.	.	0.031388	0.22020	T	.	.	.	.	.	.	.	.	.	0.493751	0.15260	T	0.031242633	0.02928	0.07577128	0.16716	0.031242633	0.02928	0.07577128	0.16716	-2.994	0.10116	T	.	.	0.11	0.21201	B	.	.	1.614724	0.20630	14.84	0.66970395770396629	0.08215	0.33647	0.24879	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.781986558344171	0.23860	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.113973	0.23998	4.48	0.71	0.17313	0.794000	0.26619	4.086000	0.41773	-0.643000	0.04418	0.790000	0.29595	1.000000	0.68203	0.003000	0.05239	0.4219:0.0:0.5781:0.0	6.323	0.20433	576	0.70006	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	737.33	33	chr5	127754307	.	G	T	737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.316;DP=760;ExcessHet=0;FS=0.839;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=0.403;SOR=0.776	GT:AD:DP:GQ:PL	0/1:49,34:83:99:751,0,1139	18	0	1	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1727.26	102	chr5	128288438	.	C	G	1727.26	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-1.028;DP=1798;ExcessHet=4.0268;FS=185.259;InbreedingCoeff=-0.3823;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.46;SOR=11.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,28:106:99:.:.:211,0,957:.	6	0	8	5
chr5	132896597	132896597	G	A	exonic	AFF4	.	nonsynonymous SNV	AFF4:NM_014423:exon11:c.C2033T:p.P678L	CHOPS syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1020040	Cognitive_impairment_-_coarse_facies_-_heart_defects_-_obesity_-_pulmonary_involvement_-_short_stature_-_skeletal_dysplasia_syndrome|AFF4-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0014609,MedGen:C4085597,OMIM:616368,Orphanet:444077|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.0347379517326	.	0.000199681	3.295e-05	0	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs572126510	2.805e-05	2.805e-05	1.225e-05	4.4e-05	0.0003	2.087e-05	1.878e-05	0.0002	0.0002	0	0	0	0	0	0.0002	7.194e-06	4.967e-05	0.0003	1.971e-05	1.969e-05	0	4.031e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0.0002	0.207	0.19854	T	0.228	0.25286	T	0.089	0.42542	B	0.025	0.47728	B	0.011245	0.29603	N	0.366734	0.999957	0.58761	D	1.78	0.46185	L	0.01	0.62459	T	-1.37	0.33998	N	0.198	0.29197	-0.7861	0.55956	T	0.230	0.59571	T	10	0.061825573	0.07811	T	0.034738	0.55878	D	0.064	0.18567	.	.	0.396040681932	0.39213	0.2452693811266816	0.24440	0.669621661834	0.59368	0.542760133743	0.44835	T	0.070525	0.33980	T	-0.318781	0.06998	T	-0.379527	0.35779	T	0.231352940201759	0.22016	T	0.89741	0.64114	D	0.07909241	0.18050	0.09418549	0.22283	0.087162405	0.20285	0.103358455	0.24796	-4.713	0.33561	T	0.2022634423720124	0.26898	0.081	0.15698	B	.;.	.;.	4.389300	0.67730	25.1	0.99590581937266798	0.73572	0.91004	0.52673	D	AEFBI	0.212254	0.33796	N	0.102711990347074	0.46588	2.896971	0.212117457475943	0.50519	3.243078	0.999999988003538	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	5.070000	0.64205	11.929000	0.99898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.443	0.90619	815	0.41851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2208.33	41	chr5	132896597	.	G	A	2208.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.614;DP=785;ExcessHet=0;FS=6.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.354;SOR=0.771	GT:AD:DP:GQ:PL	0/1:77,83:160:99:2222,0,1932	18	0	1	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	747.99	33	chr5	138386226	.	G	A	747.99	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.753;DP=1527;ExcessHet=1.3;FS=220.18;InbreedingCoeff=-0.1468;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.38;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,31:160:99:0|1:138386225_T_C:228,0,4450:138386225	15	0	4	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	985.91	191	chr5	139887481	.	C	T	985.91	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.303;DP=2082;ExcessHet=2.9153;FS=241.35;InbreedingCoeff=-0.3001;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.942;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,30:122:96:0|1:139887481_C_T:96,0,2797:139887481	10	0	7	2
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N,NRG2:NM_004883:exon2:c.G729C:p.K243N,NRG2:NM_013981:exon2:c.G729C:p.K243N,NRG2:NM_013982:exon2:c.G729C:p.K243N,NRG2:NM_013983:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	1237.29	191	chr5	139887483	.	C	G	1237.29	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.683;DP=1976;ExcessHet=5.3738;FS=248.454;InbreedingCoeff=-0.3809;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.756;SOR=11.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,30:122:96:0|1:139887481_C_T:96,0,2797:139887481	10	0	7	2
chr5	141052496	141052499	CAAT	-	exonic	PCDHB1	.	frameshift deletion	PCDHB1:NM_013340:exon1:c.1026_1029del:p.N343Lfs*4	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189184342	2.052e-05	2.052e-05	1.497e-05	2.613e-05	2.608e-05	1.456e-05	1.264e-05	1.83e-05	1.582e-05	0	2.236e-05	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3004.29	36	chr5	141052495	.	ACAAT	A	3004.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.931;DP=831;ExcessHet=0;FS=5.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=0.655;SOR=0.394	GT:AD:DP:GQ:PL	0/1:97,79:176:99:3018,0,3789	18	0	1	0
chr5	141122905	141122905	A	-	exonic	PCDHB4	.	frameshift deletion	PCDHB4:NM_018938:exon1:c.907delA:p.K305Nfs*12	.	418	1103	1	0	0	1	0.000453104	.	.	.	181417	Microcephaly|Epilepsy|Intellectual_disability|Seizure|not_provided	Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MONDO:MONDO:0005027,MeSH:D004827,MedGen:C0014544|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0005	0	0.0003	0	0.0004	0	0.0001	3.84e-05	1	26028	rs1324449149	6.858e-05	0.0001	6.754e-05	6.964e-05	0.0002	5.742e-05	5.327e-05	0.0001	8.925e-05	0.0002	0.0001	7.826e-05	0.0002	0	0	6.075e-05	3.358e-05	7.193e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0	0	0.0006	0	0.0034	4.431e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1278.29	101	chr5	141122904	.	GA	G	1278.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.297;DP=1506;ExcessHet=0;FS=3.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.083;SOR=0.493	GT:AD:DP:GQ:PL	0/1:47,53:100:99:1292,0,1058	18	0	1	0
chr5	141214610	141214610	G	A	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.G487A:p.V163I	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00309687639316	.	.	0.0006	9.713e-05	0.0002	0	0	0.0003	0.0011	0.0031	0.0015368	40	26028	rs2860677	0.0003	0.0006	0.0002	0.0004	0.0022	0.0003	0.0003	0.0019	0.0018	0.0002	0.0003	0	7.573e-05	0	0.0009	0.0002	0.0002	0.0022	0.0003	0.0012	0.0003	0.0003	0.0026	0.0002	0.0002	0.0015	0.0012	0.0002	0	0	0	0	9.649e-05	0.0034	0.0003	0	0.0026	0.236	0.17940	T	0.269	0.22426	T	0.014	0.16867	B	0.015	0.17295	B	.	.	.	.	0.997234	0.22740	N	0.57	0.15267	N	0.73	0.50721	T	-0.77	0.21429	N	0.068	0.04072	-1.0529	0.13601	T	0.084	0.32900	T	9	0.014781207	0.00310	T	0.003097	0.06726	T	0.072	0.21020	.	.	0.515659482774	0.51210	0.04680039240838124	0.04623	.	.	0.323091715574	0.13889	T	0.002854	0.02248	T	-0.601168	0.00143	T	-0.641239	0.09579	T	0.0093820320057927	0.00120	T	0.579842	0.20971	T	0.060832992	0.12529	0.048324198	0.07155	0.060832992	0.12528	0.048324198	0.07154	-5.03	0.37164	T	.	.	0.079	0.07507	B	.	.	1.269332	0.16678	12.69	0.98289167614040485	0.39935	0.22572	0.21791	N	AEFDGBI	0.083143	0.16841	N	-0.717268111916646	0.15536	0.7838338	-0.697047521298842	0.17033	0.9039248	0.191406351029646	0.18004	0.623552	0.39893	0	0.588015	0.36545	0	0.576033	0.28219	0	0.579976	0.35079	0	.	.	3.55	3.55	0.39770	0.034000	0.13663	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.744000	0.35576	0.2082:0.203:0.5888:0.0	4.231	0.10054	690	0.58899	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	0.005539	0.000000	0.006793	0.002924	0.000000	0.008621	0.009146	0.003788	0.02632	912.33	35	chr5	141214610	.	G	A	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.815;DP=1069;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.46;MQRankSum=-13.54;QD=2.9;ReadPosRankSum=2.63;SOR=0.691	GT:AD:DP:GQ:PL	0/1:252,63:315:99:926,0,7036	18	0	1	0
chr5	141215958	141215958	T	C	exonic	PCDHB13	.	nonsynonymous SNV	PCDHB13:NM_018933:exon1:c.T1835C:p.L612P	.	23	1497	2	0	0	2	0.000667557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00559187242214	.	0.00139776	0.0012	0.0011	0.0012	0.0015	0	0.0003	0	0.0052	0.0004226	11	26028	rs558168940	0.0005	0.0008	0.0003	0.0006	0.0055	0.0004	0.0004	0.0051	0.0049	2.997e-05	0.0008	0.0003	0.0004	8.06e-05	0.0015	0.0001	0.0003	0.0055	0.0006	0.0007	0.0005	0.0007	0.0087	0.0005	0.0005	0.0066	0.0059	0.0002	0	0.0007	0.0009	0.0004	9.413e-05	0	0.0004	0.0009	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.961486	0.38238	D	-1.485	0.00523	N	0.74	0.50459	T	8.79	0.00000	N	0.057	0.02861	-0.9840	0.34069	T	0.034	0.14726	T	9	0.008612841	0.00195	T	0.005592	0.14439	T	0.102	0.29158	0.568	0.69034	0.265929055128	0.26215	0.2419738348692673	0.24111	.	.	0.609431385994	0.54235	T	0.001238	0.00725	T	-0.621413	0.00108	T	-0.684408	0.06718	T	0.00391296264876428	0.00041	T	0.425957	0.11436	T	0.055649526	0.10844	0.13838279	0.33049	0.055649526	0.10843	0.13838279	0.33048	3.116	0.00019	T	.	.	0.029	0.00001	B	.	.	0.021707	0.04434	1.164	0.30311040429097369	0.01651	0.00327	0.01711	N	AEFBI	0.050578	0.08853	N	-1.86313562830089	0.00408	0.01755657	-1.69262331141643	0.01170	0.05265714	0.00561670425533724	0.10993	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	3.3	2.42	0.28720	-0.484000	0.06608	.	.	-3.148000	0.00117	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.8615:0.0:0.1385	10.578	0.44427	686	0.59327	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	.	.	.	.	.	.	.	.	0.02632	291.33	142	chr5	141215958	.	T	C	291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.162;DP=1435;ExcessHet=0;FS=1.302;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=47.24;MQRankSum=-4.346;QD=4.62;ReadPosRankSum=0.221;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,11:63:99:0|1:141215958_T_C:305,0,2103:141215958	18	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	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	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,26:180:99:.:.:858,0,5044:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,70:199:99:.:.:1317,0,4042:.	1	0	18	0
chr5	141351894	141351894	G	C	exonic	PCDHGB1	.	nonsynonymous SNV	PCDHGB1:NM_018922:exon1:c.G1634C:p.R545P,PCDHGB1:NM_032095:exon1:c.G1634C:p.R545P	.	23	1467	28	4	0	36	0.0121212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	0.0003	0.00259585	0.0016	0	0.0006	0	0	0.0006	0.0011	0.0082	0.0013454	208	154602	rs146243220	0.0008	0.0008	0.0005	0.0011	0.0082	0.0008	0.0008	0.0077	0.0075	8.964e-05	0.0004	0.0025	0	0	0.0052	0.0003	0.0012	0.0082	0.0006	0.0006	0.0005	0.0007	0.0079	0.0005	0.0004	0.0059	0.0052	7.212e-05	0	0.0005	0.0026	0	0	0.0034	0.0004	0.0014	0.0079	0.016	0.51853	D	0.041	0.50514	D	0.997	0.70673	D	0.976	0.74454	D	.	.	.	.	1	0.81001	D	1.255	0.31814	L	0.61	0.53516	T	-4.76	0.80340	D	0.685	0.70351	-0.7106	0.59923	T	0.313	0.68344	T	9	0.0158844	0.00334	T	.	.	.	0.323	0.64522	.	.	0.477529508747	0.47384	0.6928669181275922	0.69226	1.34527031698	0.83966	.	.	.	0.218909	0.58177	T	-0.19705	0.21230	T	-0.0508392	0.66966	D	0.0868363514996642	0.10838	T	0.872113	0.57861	D	0.752904	0.81037	0.69471806	0.82028	0.752904	0.81038	0.69471806	0.82029	-10.866	0.78951	D	.	.	0.719	0.76143	P	.;.	.;.	3.701678	0.52801	23.3	0.99466671050812694	0.66102	0.34876	0.25170	N	AEFBI	0.537137	0.55506	D	0.326887927068418	0.57530	3.921	0.196019217870668	0.49628	3.163746	0.209109062268677	0.18217	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.39	4.5	0.54382	0.074000	0.14525	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.781000	0.36947	0.0:0.1361:0.5831:0.2808	9.710	0.39406	696	0.58299	.;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	0.005285	0.000000	0.004076	0.008197	0.000000	0.000000	0.006098	0.003788	0.02632	3615.33	42	chr5	141351894	.	G	C	3615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.903;DP=1014;ExcessHet=0;FS=2.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.47;MQRankSum=-0.449;QD=11.37;ReadPosRankSum=0.697;SOR=0.554	GT:AD:DP:GQ:PL	0/1:171,147:318:99:3629,0,4197	18	0	1	0
chr5	141356585	141356585	C	G	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.C1478G:p.P493R,PCDHGA4:NM_032053:exon1:c.C1478G:p.P493R	.	412	1076	32	2	0	36	0.0164534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0024	0.0004	0.0006	0	0	0.0012	0.0033	0.0116	0.0020634	319	154602	rs11575950	0.0014	0.0014	0.0009	0.0018	0.0129	0.0013	0.0013	0.0122	0.0120	0.0001	0.0004	0.0084	2.519e-05	7.488e-05	0.0104	0.0004	0.0021	0.0129	0.0010	0.0010	0.0009	0.0011	0.0143	0.0008	0.0008	0.0116	0.0106	2.406e-05	0	0.0004	0.0078	0	0	0	0.0006	0.0024	0.0143	.	.	.	0.268	0.34596	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.009448558	0.00213	T	.	.	.	.	.	.	.	0.708209581343	0.70566	0.16619594975698668	0.16539	0.601724968327	0.55209	.	.	.	.	.	.	-0.446249	0.01188	T	-0.403395	0.32990	T	.	.	.	0.786121	0.47860	T	0.12372891	0.29045	0.19821483	0.43643	0.12372891	0.29045	0.19821483	0.43643	-7.023	0.54202	T	.	.	0.100	0.17232	B	.;.	.;.	1.196878	0.15889	12.17	0.7920867795643789	0.12638	0.15499	0.18941	N	AEFBI	0.203332	0.32985	N	.	.	.	.	.	.	0.457882207940288	0.20598	0.582742	0.33608	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	5.68	1.82	0.24209	-2.055000	0.01485	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.1184:0.6214:0.0:0.2602	6.922	0.23576	641	0.64016	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	0.003021	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	3735.33	33	chr5	141356585	.	C	G	3735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.985;DP=1405;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.266;SOR=0.814	GT:AD:DP:GQ:PL	0/1:164,155:319:99:3749,0,4471	18	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:213,75:288:99:151,0,4299	8	0	11	0
chr5	141408395	141408395	A	G	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.A193G:p.K65E,PCDHGB6:NM_032100:exon1:c.A193G:p.K65E	.	427	992	96	7	0	110	0.052531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0039	0.0177716	0.0132	0.0018	0.0073	0.0002	0.0002	0.0060	0.0112	0.0649	0.0115652	1788	154602	rs200317374	0.0090	0.0090	0.0072	0.0109	0.0640	0.0089	0.0088	0.0626	0.0620	0.0013	0.0071	0.0148	0.0002	0.0005	0.0333	0.0054	0.0104	0.0640	0.0065	0.0065	0.0056	0.0074	0.0700	0.0061	0.0060	0.0638	0.0614	0.0015	0	0.0097	0.0138	0.0002	0	0.0238	0.0053	0.0099	0.0700	0.163	0.23450	T	0.139	0.33666	T	0.245	0.32288	B	0.222	0.42079	B	.	.	.	.	1	0.81001	D	2.305	0.65957	M	1.66	0.27486	T	-2.58	0.55662	D	0.319	0.35938	-0.9662	0.37974	T	0.092	0.35201	T	9	0.0031889975	0.00054	T	.	.	.	0.143	0.38195	.	.	.	.	0.6703808707331448	0.66976	0.709368004076	0.61626	.	.	.	0.027923	0.20342	T	-0.44909	0.01144	T	-0.370749	0.36801	T	0.0475444560771186	0.05062	T	0.354964	0.08219	T	0.2165191	0.44112	0.34913993	0.60543	0.2165191	0.44112	0.34913993	0.60543	-9.816	0.73834	D	.	.	0.290	0.52202	B	.;.	.;.	2.840616	0.37476	20.5	0.99325023159566861	0.59546	0.60219	0.31134	D	AEFDGBI	0.346170	0.44107	N	-0.0240420988650684	0.40769	2.426813	0.0169669784007313	0.40504	2.418219	0.999999795248276	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	5.38	0.77279	2.296000	0.43245	.	.	0.542000	0.25261	0.004000	0.16614	0.001000	0.17328	0.750000	0.35786	0.9269:0.0:0.0731:0.0	11.343	0.48780	814	0.42100	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.042347	0.025253	0.023098	0.053797	0.050000	0.043103	0.042945	0.049242	0.07895	7198.79	222	chr5	141408395	.	A	G	7198.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.02;DP=1497;ExcessHet=0.3672;FS=1.745;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=57.94;MQRankSum=-8.117;QD=11.13;ReadPosRankSum=1.55;SOR=0.744	GT:AD:DP:GQ:PL	0/1:110,90:200:99:2131,0,2748	16	0	3	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	536.21	79	chr5	146286009	.	G	C	536.21	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-2.632;DP=1601;ExcessHet=2.9153;FS=120.644;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.514;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,14:79:31:.:.:31,0,1246:.	10	0	7	2
chr5	149944375	149944375	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G299A:p.R100Q	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	298113	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.620	0.0613741473385	7.7e-05	0.000599042	0.0005	9.612e-05	8.639e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199738915	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	6.709e-05	3.826e-05	2.519e-05	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	4.816e-05	0	0.0002	0.0003	0.0002	0	0	0.0001	0.0005	0.0037	0.052	0.39097	T	0.049	0.48336	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	2.355	0.67662	M	-0.41	0.69413	T	-3.22	0.64939	D	0.896	0.89577	-0.1886	0.77963	T	0.460	0.79066	T	10	0.096933514	0.17421	T	0.061374	0.68310	D	0.620	0.85249	.	.	0.919440382184	0.91862	0.3172496280650157	0.31637	0.530887566626	0.50614	0.45652359724	0.32834	T	0.29179	0.85714	T	-0.0983919	0.36693	T	0.0825257	0.75747	D	0.162289581350882	0.18039	T	0.990041	0.96927	D	0.67535186	0.76720	0.47112358	0.69334	0.67535186	0.76721	0.47112358	0.69335	-11.141	0.80425	D	0.3554479733420268	0.45233	0.756	0.75317	P	.;.;.	.;.;.	5.246197	0.88079	29.5	0.99955934460348494	0.99975	0.98544	0.83920	D	AEFBI	0.937248	0.93476	D	0.77976261141028	0.84823	8.397035	0.76699137000927	0.87421	9.21608	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1382.33	35	chr5	149944375	.	C	T	1382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=773;ExcessHet=0;FS=4.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=1.06;SOR=0.777	GT:AD:DP:GQ:PL	0/1:76,53:129:99:1396,0,1866	18	0	1	0
chr5	149944400	149944400	C	T	exonic	PDE6A	.	nonsynonymous SNV	PDE6A:NM_000440:exon1:c.G274A:p.D92N	Retinitis pigmentosa 43	0	1514	8	0	0	8	0.00263505	.	.	.	296294	not_provided|Retinitis_pigmentosa_43|Usher_syndrome|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013437,MedGen:C3151139,OMIM:613810,Orphanet:791|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.784	0.113893226854	7.7e-05	0.000599042	0.0005	9.612e-05	8.637e-05	0	0	0.0001	0	0.0028	0.0004075	63	154602	rs199924410	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	2.987e-05	6.708e-05	3.826e-05	0	0	0.0014	0.0003	0.0003	0.0033	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0001	0.0024	0.0020	2.406e-05	0	0.0002	0.0003	0	0	0	0.0001	0.0005	0.0037	0.014	0.53172	D	0.004	0.76473	D	0.828	0.46021	P	0.58	0.50189	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.555	0.93317	H	-0.79	0.73739	T	-4.06	0.74582	D	0.897	0.90025	0.401	0.89115	D	0.586	0.85167	D	10	0.15233639	0.28777	T	0.113893	0.79256	D	0.784	0.92827	.	.	0.959201930552	0.95876	0.46917647258422523	0.46836	0.492454931877	0.47890	0.571771860123	0.48929	T	0.477473	0.93548	T	-0.286847	0.09955	T	-0.188177	0.55760	T	0.322011649589756	0.25903	T	0.975602	0.91418	D	0.7080398	0.78500	0.6784628	0.81113	0.7080398	0.78501	0.6784628	0.81113	-11.987	0.84788	D	0.5802175747067403	0.64707	0.301	0.53080	B	.;.;.	.;.;.	4.771144	0.77233	26.7	0.99902036683565598	0.97350	0.98544	0.83920	D	AEFBI	0.940572	0.94270	D	0.809232720125816	0.86682	8.963824	0.788593331931833	0.88989	9.794523	0.999999999999794	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.902000	0.86082	5.981000	0.52169	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	16.810	0.85579	685	0.59416	.;GAF domain|GAF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1343.33	35	chr5	149944400	.	C	T	1343.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.099;DP=770;ExcessHet=0;FS=2.283;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.076;SOR=0.476	GT:AD:DP:GQ:PL	0/1:71,56:127:99:1357,0,1933	18	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:95,32:131:95:95,0,2030	4	0	14	1
chr5	159917555	159917555	C	T	exonic	ADRA1B	.	nonsynonymous SNV	ADRA1B:NM_000679:exon1:c.C650T:p.A217V	.	423	1095	4	0	0	4	0.00182315	.	.	.	4125333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.00438991833739	.	.	0.0002	0	0.0002	0	0	0.0001	0	0.0006	0.0001358	21	154602	rs751740593	8.346e-05	8.345e-05	6.126e-05	0.0001	0.0023	7.136e-05	6.684e-05	0.0013	0.0011	8.961e-05	8.945e-05	3.827e-05	2.519e-05	0	0.0023	5.396e-05	0.0001	0.0004	2.631e-05	2.627e-05	0	5.386e-05	0.0002	8.15e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.053	0.22573	B	0.065	0.27321	B	0.017531	0.27701	N	0.419321	1	0.08975	N	0.665	0.16292	N	1.31	0.35405	T	-0.67	0.19297	N	0.075	0.04913	-0.9972	0.30701	T	0.036	0.15596	T	10	0.042579204	0.03022	T	0.00439	0.10718	T	0.109	0.30843	0.478	0.55663	0.365892764245	0.36201	0.55904854325453	0.55831	0.451973113552	0.44930	0.56005012989	0.47275	T	0.160034	0.50372	T	-0.475522	0.00786	T	-0.584571	0.14139	T	0.0267269890755415	0.01505	T	0.824917	0.48720	T	0.048843056	0.08579	0.101345316	0.24258	0.048843056	0.08579	0.101345316	0.24257	-4.46	0.30362	T	.	.	0.081	0.08465	B	.	.	2.883084	0.38162	20.7	0.79655356433737579	0.12840	0.17383	0.19813	N	AEFDBCI	0.105879	0.21142	N	-0.715885526240636	0.15576	0.7861258	-0.505236019966997	0.22010	1.193441	0.999999425091727	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	5.93	4.17	0.48303	0.807000	0.26800	4.917000	0.46007	-0.173000	0.11020	0.281000	0.25150	1.000000	0.68203	0.996000	0.76049	0.0:0.7022:0.0:0.2978	6.626	0.22026	923	0.18507	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	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1674.33	40	chr5	159917555	.	C	T	1674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.348;DP=811;ExcessHet=0;FS=4.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.225;SOR=1.049	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1688,0,1636	18	0	1	0
chr5	160615921	160615921	C	T	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon16:c.G2570A:p.R857H,ATP10B:NM_001366655:exon16:c.G2570A:p.R857H,ATP10B:NM_001366657:exon16:c.G2534A:p.R845H,ATP10B:NM_025153:exon17:c.G2570A:p.R857H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0181027619561	0.0006	0.000199681	0.0002	0.0026	0	0	0.0002	4.499e-05	0	6.059e-05	0.000207	32	154602	rs200404119	0.0001	0.0001	0.0002	0.0001	0.0025	0.0001	0.0001	0.0021	0.0019	0.0025	4.472e-05	0	0	0	0.0002	7.285e-05	0.0004	8.117e-05	0.0006	0.0006	0.0007	0.0005	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.551	0.06564	T	0.544	0.09621	T	0.009	0.15093	B	0.003	0.08700	B	0.820055	0.09185	N	0.928252	1	0.08975	N	0.27	0.09956	N	-0.49	0.70365	T	-0.23	0.15379	N	0.095	0.07535	-0.9844	0.33975	T	0.116	0.41075	T	9	0.00589481	0.00132	T	0.018103	0.40048	T	0.073	0.21317	.	.	0.310458034454	0.30648	0.2684973705449085	0.26762	0.0973789555765	0.10997	0.197584986687	0.00390	T	0.001046	0.00572	T	-0.594055	0.00158	T	-0.631643	0.10291	T	0.00857409167080181	0.00105	T	0.0582942	0.00503	T	0.023236547	0.01046	0.040781707	0.04486	0.023236547	0.01046	0.040781707	0.04486	-3.807	0.20909	T	.	.	0.069	0.03128	B	.;.;.	.;.;.	0.232501	0.06135	2.582	0.89164219313966575	0.18564	0.01639	0.05276	N	AEFI	0.069184	0.13683	N	-1.34513843513866	0.03175	0.141422	-1.31561950517632	0.04228	0.1989856	0.537890876487553	0.21229	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	-5.88	0.02100	-1.859000	0.01749	-5.035000	0.01877	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.0866:0.2984:0.0:0.615	11.186	0.47884	866	0.32446	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1314.33	38	chr5	160615921	.	C	T	1314.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-1.523;SOR=0.691	GT:AD:DP:GQ:PL	0/1:65,55:120:99:1328,0,1468	18	0	1	0
chr5	171265774	171265774	G	A	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon25:c.G2870A:p.R957Q	.	.	.	.	.	.	.	.	.	.	.	3315441	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.00479977636334	.	.	9.887e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs760918901	8.004e-05	8.003e-05	4.901e-05	0.0001	0.0011	6.801e-05	6.355e-05	0.0009	0.0008	0	0	3.826e-05	0	0	0	1.889e-05	6.623e-05	0.0011	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0.0005	0.0004	0.152	0.24468	T	0.488	0.11621	T	0.067	0.23653	B	0.005	0.11217	B	0.000034	0.55875	D	0.000000	0.946329	0.37523	D	1.285	0.32305	L	1.98	0.21865	T	-0.8	0.22078	N	0.464	0.50056	-1.0671	0.10062	T	0.040	0.17277	T	10	0.046012104	0.03741	T	0.005	0.12004	T	0.194	0.47447	.	.	0.327952845175	0.32413	0.20255119154839665	0.20172	0.122314340409	0.13782	0.381947338581	0.22532	T	0.002089	0.01499	T	-0.198571	0.21012	T	-0.103561	0.63121	T	0.0572328992043388	0.06726	T	0.855114	0.54241	D	0.096672334	0.22774	0.10674073	0.25683	0.096672334	0.22774	0.10674073	0.25683	-2.525	0.05954	T	.	.	0.097	0.15788	B	.	.	3.445410	0.47949	22.5	0.99769425507358034	0.85750	0.85984	0.45184	D	AEFBI	0.380494	0.46311	N	-0.138645958562624	0.35718	2.055281	0.0707882349504236	0.43088	2.617832	0.999907000593439	0.45458	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.81	5.81	0.92413	3.182000	0.50611	4.092000	0.41811	0.676000	0.76740	0.727000	0.28892	1.000000	0.68203	0.690000	0.33838	0.0:0.0:1.0:0.0	18.21	0.89802	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1463.33	40	chr5	171265774	.	G	A	1463.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.39;DP=743;ExcessHet=0;FS=2.705;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.705;SOR=1.031	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1477,0,1084	18	0	1	0
chr5	171309618	171309618	G	T	exonic	TLX3	.	nonsynonymous SNV	TLX3:NM_021025:exon1:c.G253T:p.A85S	.	280	1214	26	2	0	30	0.012205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.243185362763	0.0013	0.000798722	0.0013	0	0.0014	0	0.0006	0.0016	0	0.0016	0.0008926	138	154602	rs34255055	0.0008	0.0008	0.0008	0.0009	0.0057	0.0008	0.0008	0.0042	0.0037	0.0004	0.0012	0.0055	0	0.0003	0.0057	0.0007	0.0017	0.0015	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0011	0.0010	0.0003	0	0.0005	0.0040	0	0.0004	0.0034	0.0013	0.0009	0.0015	0.096	0.31088	T	0.23	0.25135	T	0.016	0.17332	B	0.025	0.20508	B	0.004111	0.34102	N	0.277021	0.934955	0.26957	N	0.97	0.24054	L	-2.79	0.91019	D	-0.44	0.14588	N	0.166	0.17553	-0.4295	0.71083	T	0.551	0.83536	D	10	0.009405673	0.00212	T	0.243185	0.88792	D	0.194	0.47447	.	.	0.885406294205	0.88428	0.370839649992083	0.36997	0.281322479911	0.30605	0.780879020691	0.79060	T	0.199373	0.55664	T	-0.349396	0.04766	T	-0.304739	0.44221	T	0.00990726697803911	0.00131	T	0.779122	0.41282	T	0.0915606	0.21457	0.13071421	0.31403	0.0915606	0.21456	0.13071421	0.31402	-5.438	0.41284	T	.	.	0.072	0.04436	B	.	.	3.591189	0.50680	23.0	0.98047320317959252	0.37835	0.93838	0.59337	D	AEFDBHCI	0.536329	0.55459	D	-0.102069687917046	0.37302	2.168293	0.0636613882169373	0.42737	2.590229	0.99999999818404	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.4	4.4	0.52402	3.898000	0.55993	11.421000	0.92715	0.670000	0.69193	0.887000	0.31133	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.8231:0.1769	11.730	0.50997	668	0.61153	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003546	0.000000	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	2328.33	34	chr5	171309618	.	G	T	2328.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.478;DP=847;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.749;SOR=0.601	GT:AD:DP:GQ:PL	0/1:101,102:203:99:2342,0,2354	18	0	1	0
chr5	173989505	173989505	C	T	exonic	C5orf47	.	nonsynonymous SNV	C5orf47:NM_001144954:exon1:c.C242T:p.P81L	.	414	1093	14	1	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.00599042	0.0061	0.0196	0.0048	0	0	0.0085	0	0.0028	0.0012419	192	154602	rs115473626	0.0047	0.0045	0.0048	0.0045	0.0176	0.0046	0.0045	0.0164	0.0159	0.0176	0.0036	0.0077	2.822e-05	0.0148	0.0088	0.0041	0.0061	0.0012	0.0098	0.0098	0.0095	0.0102	0.0186	0.0094	0.0093	0.0175	0.0171	0.0186	0.0011	0.0090	0.0069	0	0.0184	0.0102	0.0049	0.0104	0.0012	0.395	0.10659	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	.	.	.	-2.28	0.50830	N	0.025	0.00485	-1.0222	0.22998	T	0.014	0.05513	T	8	0.0047113	0.00099	T	.	.	.	0.022	0.04323	.	.	0.0551355673512	0.04727	0.02208729332052774	0.02160	.	.	.	.	.	0.054679	0.29791	T	-0.708169	0.00033	T	-0.775075	0.02605	T	0.00249957737345957	0.00026	T	0.452755	0.12846	T	0.027760087	0.02015	0.04247452	0.05065	0.027760087	0.02015	0.04247452	0.05065	-3.679	0.19008	T	.	.	0.077	0.06295	B	.	.	-0.049628	0.03954	0.884	0.49522400986126158	0.04224	0.00388	0.01954	N	AEFDBI	0.028796	0.02603	N	-1.8116562881133	0.00517	0.0222669	-1.87970252443646	0.00537	0.02380419	0.197110843992046	0.18074	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	1.16	0.067	0.13678	-0.798000	0.04670	-0.643000	0.08067	-0.614000	0.04577	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.778:0.0:0.222	6.657	0.22185	975	0.05339	.	.	.	.	.	rs115473626	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1207.33	37	chr5	173989505	.	C	T	1207.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.548;DP=716;ExcessHet=0;FS=8.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=0.707;SOR=0.213	GT:AD:DP:GQ:PL	0/1:29,46:75:99:1221,0,753	18	0	1	0
chr5	176106575	176106575	G	A	exonic	FAM153B	.	nonsynonymous SNV	FAM153B:NM_001265615:exon15:c.G616A:p.A206T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00238076945108	.	.	4.943e-05	0	0	0	0	0	0.0011	0.0003	3.84e-05	1	26028	rs780732177	8.352e-05	0.0002	4.359e-05	0.0001	0.0013	7.142e-05	6.69e-05	0.0011	0.0011	5.979e-05	0	0	0	0	0	0	9.949e-05	0.0013	7.876e-05	0.0002	5.137e-05	0.0001	0.0021	4.492e-05	3.509e-05	0.0011	0.0009	0	0	6.532e-05	0	0	0	0	0	0.0005	0.0021	0.0	0.91255	D	0.248	0.26386	T	0.877	0.48223	P	0.682	0.53531	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-2.06	0.47175	N	0.117	0.12913	-1.0743	0.08493	T	0.045	0.19194	T	8	0.044659257	0.03448	T	0.002381	0.04646	T	0.076	0.22200	0.113	0.02240	0.043077524339	0.03247	0.023524466019187514	0.02304	.	.	0.51147121191	0.40427	T	0.025537	0.19075	T	-0.426186	0.01564	T	-0.500532	0.22293	T	0.199057295918465	0.20364	T	0.420158	0.11156	T	0.028720018	0.02252	0.04924757	0.07486	0.028720018	0.02252	0.04924757	0.07485	-6.814	0.52663	T	.	.	0.112	0.38747	B	.;.;.;.;.	.;.;.;.;.	0.142978	0.05365	1.848	0.98711733443265848	0.45069	0.00113	0.00716	N	AEFI	0.025835	0.01836	N	-0.904851794551615	0.10727	0.5140748	-1.14229591891679	0.06907	0.3340864	2.23160943861108E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.886	-1.77	0.07551	-2.709000	0.00890	-20.000000	0.00162	-1.613000	0.00878	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2572:0.0:0.4235:0.3193	1.750	0.02791	895	0.25842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	449.33	33	chr5	176106575	.	G	A	449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.998;DP=986;ExcessHet=0;FS=7.214;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=46.53;MQRankSum=-8.452;QD=1.69;ReadPosRankSum=0.189;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:221,45:266:99:0|1:176106575_G_A:463,0,8060:176106575	18	0	1	0
chr5	178883141	178883141	G	A	exonic	ZNF354B	.	nonsynonymous SNV	ZNF354B:NM_058230:exon5:c.G689A:p.R230H	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00385337561426	0.0060	0.00179712	0.0051	0.0009	0.0009	0	0.0029	0.0073	0.0011	0.0056	0.0046183	714	154602	rs61740657	0.0055	0.0055	0.0055	0.0055	0.0064	0.0054	0.0054	0.0062	0.0062	0.0009	0.0013	7.663e-05	5.041e-05	0.0025	0.0024	0.0064	0.0046	0.0058	0.0032	0.0032	0.0033	0.0031	0.0064	0.0030	0.0029	0.0051	0.0049	0.0010	0	0.0014	0	0	0.0016	0	0.0055	0.0019	0.0064	0.045	0.40832	D	0.21	0.26714	T	0.999	0.77913	D	0.528	0.48482	P	.	.	.	.	1	0.08975	N	1.795	0.47270	L	1.95	0.22474	T	-1.01	0.26639	N	0.185	0.20129	-1.0418	0.16770	T	0.035	0.14857	T	9	0.006136775	0.00138	T	0.003853	0.09024	T	0.143	0.38195	.	.	0.0611884634855	0.05136	0.07072194620631825	0.07009	0.995685470346	0.74223	0.329632908106	0.14878	T	0.028204	0.20484	T	-0.483812	0.00703	T	-0.462893	0.26284	T	0.0502738953255207	0.05548	T	0.648535	0.25952	T	0.06904754	0.15094	0.06271678	0.12312	0.06904754	0.15094	0.06271678	0.12312	-4.542	0.31434	T	.	.	0.135	0.29422	B	.	.	3.511753	0.49179	22.7	0.99719999051690533	0.81984	0.02223	0.06466	N	AEFDBHCI	0.032903	0.03805	N	-0.00233404095738626	0.41749	2.50289	-0.084095280576821	0.36047	2.092892	0.00536573742973005	0.10916	0.562547	0.31514	0	0.546412	0.12157	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	3.53	2.54	0.29674	-0.769000	0.04816	-0.522000	0.08684	0.588000	0.31329	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.137:0.0:0.5963:0.2667	3.611	0.07604	929	0.16858	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	0.004028	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.011364	0.02632	1864.33	34	chr5	178883141	.	G	A	1864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=765;ExcessHet=0;FS=6.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.458;SOR=1.266	GT:AD:DP:GQ:PL	0/1:66,68:134:99:1878,0,1570	18	0	1	0
chr5	179837704	179837704	G	C	exonic	MRNIP	.	stopgain	MRNIP:NM_001017987:exon5:c.C554G:p.S185X,MRNIP:NM_016175:exon7:c.C719G:p.S240X	.	0	225	1	0	0	1	0.00221729	.	.	.	299269	Paget_disease_of_bone_3	MONDO:MONDO:0008176,MedGen:C4085252,OMIM:167250	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0021	0	0	0	0	0	0	0.0156	0.0017852	276	154602	rs199887787	0.0008	0.0008	0.0004	0.0012	0.0131	0.0008	0.0008	0.0125	0.0122	5.974e-05	0	0	7.557e-05	0	0.0007	8.093e-06	0.0010	0.0131	0.0005	0.0005	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	4.808e-05	0	0	0	0	0	0	0	0	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	0.640226	0.05863	N	1.217680	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.068	0.04547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0263326	0.55234	T	0.276725	0.86946	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Tolerant;.	.;.;High;.	6.828624	0.95791	35	0.98961558328481236	0.49344	0.31125	0.24258	N	AEFDBHCI	0.077297	0.15570	N	0.34429594478364	0.58438	4.01615	0.00938752321776537	0.40149	2.391565	0.999997821425471	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.51	3.62	0.40616	1.588000	0.36242	3.413000	0.38202	0.618000	0.50648	0.005000	0.17040	0.468000	0.25038	0.012000	0.09680	0.0:0.0:0.8058:0.1942	10.520	0.44099	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001554	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.007576	0.02632	1400.33	33	chr5	179837704	.	G	C	1400.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=835;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.931;SOR=0.588	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1414,0,1689	18	0	1	0
chr5	180313875	180313875	T	G	exonic	GFPT2	.	nonsynonymous SNV	GFPT2:NM_005110:exon14:c.A1363C:p.I455L	.	418	1066	36	2	0	40	0.0184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0021	0.0151757	0.0128	0.0033	0.0208	0.0491	0.0003	0.0036	0.0155	0.0279	0.0083569	1292	154602	rs148353512	0.0056	0.0055	0.0050	0.0061	0.0746	0.0055	0.0054	0.0724	0.0714	0.0011	0.0137	0.0024	0.0746	0.0001	0.0128	0.0017	0.0065	0.0244	0.0046	0.0047	0.0043	0.0050	0.0471	0.0044	0.0042	0.0422	0.0403	0.0016	0	0.0084	0.0017	0.0471	0	0.0068	0.0020	0.0038	0.0240	0.129	0.26852	T	0.086	0.40909	T	0.003	0.11197	B	0.05	0.25278	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.285	0.32305	L	0.45	0.56446	T	-1.63	0.39119	N	0.846	0.84194	-1.0855	0.06316	T	0.021	0.08870	T	9	0.009543031	0.00215	T	.	.	.	0.141	0.37795	.	.	0.560341545759	0.55696	0.8772113836989456	0.87688	0.465495561018	0.45986	0.665525376797	0.62199	T	0.495246	0.81805	T	-0.269847	0.11773	T	-0.0909737	0.64089	T	0.033981114724031	0.02635	T	0.965203	0.87125	D	0.5380973	0.69289	0.43856108	0.67237	0.5380973	0.69290	0.43856108	0.67238	-10.258	0.75442	D	.	.	0.178	0.38871	B	.	.	4.503004	0.70449	25.5	0.98438813130103009	0.41486	0.64525	0.32435	D	ALL	0.952914	0.96877	D	0.00594741299997753	0.42124	2.532301	0.237372639751231	0.51934	3.371841	1.0	0.98316	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.241949	0.04745	2	.	.	5.8	5.8	0.92081	7.715000	0.83682	7.917000	0.74325	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:0.0:1.0	16.154	0.81457	970	0.06235	Sugar isomerase (SIS)|Sugar isomerase (SIS)|GlmS/AgaS, SIS domain 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014199	0.010417	0.012262	0.008772	0.000000	0.000000	0.021605	0.015152	0.02632	608.33	36	chr5	180313875	.	T	G	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=703;ExcessHet=0;FS=2.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.536;SOR=0.42	GT:AD:DP:GQ:PL	0/1:29,24:53:99:622,0,741	18	0	1	0
chr5	181059366	181059366	C	T	exonic	BTNL9	.	nonsynonymous SNV	BTNL9:NM_152547:exon11:c.C1112T:p.T371M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.013933137674	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220871832	5.048e-06	7.524e-06	4.27e-06	5.846e-06	0.0002	2.1e-06	1.35e-06	2e-06	1.32e-06	0	0	0	0	0	0.0002	5.571e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.053	0.47336	T	0.021	0.18474	B	0.109	0.31370	B	0.188869	0.16901	N	0.432113	1	0.08975	N	1.185	0.30054	L	2.83	0.10771	T	-1.89	0.44094	N	0.079	0.05414	-1.0097	0.27012	T	0.019	0.08079	T	10	0.078151286	0.12421	T	0.013933	0.33698	T	0.020	0.03691	0.372	0.38340	0.0716867268079	0.06686	0.270730880853478	0.26986	0.388266295432	0.40090	0.692328870296	0.66041	T	0.041365	0.25834	T	-0.356804	0.04314	T	-0.750301	0.03473	T	0.0685640589050127	0.08448	T	0.266973	0.04402	T	0.023865769	0.01163	0.09596692	0.22783	0.023865769	0.01163	0.09596692	0.22782	-7.527	0.57801	D	.	.	0.221	0.45174	B	.	.	0.595724	0.09641	6.414	0.9643262232651203	0.29799	0.02942	0.07766	N	AEFDBHI	0.104443	0.20897	N	-1.52123194681948	0.01710	0.07485775	-1.69892921497037	0.01142	0.05136281	0.999999999748872	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.71	-9.42	0.00515	-1.901000	0.01688	-0.606000	0.08245	-0.426000	0.05215	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.433:0.1139:0.2485:0.2046	1.579	0.02472	.	.	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1070.33	49	chr5	181059366	.	C	T	1070.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.92;DP=992;ExcessHet=0;FS=1.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.784;SOR=0.892	GT:AD:DP:GQ:PL	0/1:55,40:95:99:1084,0,1296	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:35,28:70:99:359,0,447	7	0	12	0
chr6	26413667	26413667	C	T	exonic	BTN3A1	.	nonsynonymous SNV	BTN3A1:NM_001145008:exon10:c.C1361T:p.T454M,BTN3A1:NM_007048:exon10:c.C1517T:p.T506M	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0116492911351	.	0.000199681	8.25e-05	0.0002	0	0.0002	0	3.002e-05	0	0.0002	7.12e-05	11	154602	rs536232321	4.791e-05	4.788e-05	4.086e-05	5.503e-05	0.0005	3.862e-05	3.542e-05	0.0003	0.0003	5.989e-05	0	0	0.0005	0.0002	0.0002	1.439e-05	9.942e-05	0.0002	5.253e-05	5.25e-05	5.14e-05	5.372e-05	0.0002	2.556e-05	1.829e-05	3.244e-05	1.911e-05	9.628e-05	0	0	0	0.0002	9.42e-05	0	2.94e-05	0	0	0.008	0.58626	D	0.038	0.51421	D	0.997	0.70673	D	0.903	0.64103	P	.	.	.	.	1	0.08975	N	2.05	0.56469	M	0.09	0.61443	T	-1.7	0.40468	N	0.161	0.16864	-0.9351	0.43379	T	0.175	0.51864	T	9	0.10619426	0.19667	T	0.011649	0.29486	T	0.170	0.43303	.	.	0.678173853058	0.67544	0.0986611304537531	0.09797	0.335863676792	0.35593	0.331522762775	0.15165	T	0.008821	0.08068	T	-0.378078	0.03203	T	-0.48871	0.23526	T	0.0886221487229361	0.11053	T	0.857514	0.54691	D	0.032826878	0.03383	0.061109558	0.11748	0.032826878	0.03383	0.061109558	0.11748	-8.18	0.62586	D	.	.	0.162	0.35849	B	.;.	.;.	1.751373	0.22283	15.56	0.99667866187713838	0.78394	0.02317	0.06644	N	AEFDBI	0.054261	0.09850	N	-0.448241923225378	0.23800	1.280647	-0.764021874940492	0.15378	0.8084955	0.999935916557642	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	2.31	-1.72	0.07671	-2.723000	0.00880	-20.000000	0.00162	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.321000	0.24994	0.204:0.3151:0.3261:0.1548	1.096	0.01570	680	0.59965	B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 3, PRY/SPRY domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1626.33	33	chr6	26413667	.	C	T	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=1035;ExcessHet=0;FS=1.487;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.735;SOR=0.854	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1640,0,1461	18	0	1	0
chr6	29942883	29942883	A	G	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.A200G:p.Q67R,HLA-A:NM_002116:exon2:c.A200G:p.Q67R	.	0	1438	4	0	80	84	0.00138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0204	0.0227636	0.0137	0.0536	0.0150	0.0007	0.0011	0.0104	0.0111	0.0133	0.0124837	1930	154602	rs41559117	0.0037	0.0078	0.0038	0.0037	0.0216	0.0036	0.0036	0.0202	0.0197	0.0216	0.0047	0.0108	8.565e-05	0.0001	0.0120	0.0032	0.0052	0.0039	0.0017	0.0090	0.0018	0.0016	0.0045	0.0015	0.0014	0.0039	0.0037	0.0045	0	0.0018	0.0031	0	0	0.0043	0.0004	0.0007	0	0.02	0.51853	D	0.041	0.57104	D	0.0	0.56581	B	0.006	0.76916	B	.	.	.	.	1	0.08975	N	.	.	.	5.81	0.00662	T	-1.14	0.29323	N	0.055	0.02861	-0.8104	0.54526	T	0.002	0.00615	T	9	0.00527516	0.00115	T	.	.	.	0.045	0.12272	.	.	.	.	0.07107235017823713	0.07044	0.08978525868	0.10134	0.482441782951	0.36394	T	0.031741	0.22178	T	-0.607241	0.00132	T	-0.602541	0.12598	T	0.00163650000544905	0.00017	T	0.0251975	0.00152	T	0.18879686	0.40394	0.19114956	0.42557	0.18879686	0.40394	0.19114956	0.42556	-7.366	0.56664	T	.	.	0.087	0.12985	B	.;.;.;.;.	.;.;.;.;.	0.832616	0.12043	8.596	0.59490845781891166	0.06237	0.00644	0.02812	N	AEFDGBHCI	0.252519	0.37219	N	-1.21743244991224	0.04747	0.2148947	-1.29180973749741	0.04541	0.2144058	0.999999969870594	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.56214	0.19341	0	.	.	3.72	-0.813	0.10303	-0.362000	0.07655	.	.	-2.223000	0.00347	0.004000	0.16614	.	.	0.011000	0.09372	0.5529:0.3361:0.0:0.1109	5.061	0.13892	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.041195	0.050505	0.065217	0.020000	0.050000	0.034483	0.012270	0.018939	0.02632	871.33	173	chr6	29942883	.	A	G	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.55;DP=2252;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.37;MQRankSum=-2.384;QD=8.89;ReadPosRankSum=-0.292;SOR=0.599	GT:AD:DP:GQ:PL	0/1:57,41:98:99:885,0,1607	18	0	1	0
chr6	30137212	30137212	C	A	exonic	TRIM40	.	nonsynonymous SNV	TRIM40:NM_138700:exon1:c.C176A:p.P59H,TRIM40:NM_001286633:exon2:c.C176A:p.P59H	.	414	1056	48	4	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0084	0.0091853	0.0078	0.0127	0.0078	0.0008	0.0006	0.0072	0.0080	0.0139	0.0074385	1150	154602	rs113286964	0.0068	0.0068	0.0066	0.0071	0.0442	0.0067	0.0067	0.0398	0.0380	0.0157	0.0092	0.0321	0.0005	0.0005	0.0442	0.0055	0.0095	0.0139	0.0087	0.0087	0.0089	0.0084	0.0127	0.0083	0.0081	0.0118	0.0114	0.0127	0	0.0125	0.0294	0.0015	0.0002	0.0272	0.0058	0.0156	0.0110	0.008	0.58626	D	0.012	0.63918	D	0.998	0.73220	D	0.879	0.62418	P	0.008778	0.30676	N	0.153445	0.826059	0.28821	N	2.33	0.66821	M	-0.37	0.68892	T	-4.5	0.86836	D	0.373	0.54584	-0.6586	0.62337	T	0.298	0.66896	T	10	0.008277625	0.00188	T	.	.	.	0.278	0.59497	.	.	0.830862327854	0.82926	0.26994882380630675	0.26907	0.397623300563	0.40847	0.397951006889	0.24783	T	0.026128	0.19398	T	-0.334634	0.05769	T	-0.241131	0.50688	T	0.0232735893105862	0.01056	T	.	.	.	0.10806135	0.25552	0.22598116	0.47561	0.10806135	0.25551	0.22598116	0.47560	-7.431	0.58262	T	.	.	0.187	0.41310	B	.;.;.	.;.;.	3.879740	0.56379	23.7	0.99646130465205418	0.77005	0.81979	0.41280	D	AEFDGBHCI	0.257681	0.37636	N	0.471897669294191	0.65455	4.824772	0.421122842855861	0.62885	4.511504	0.999789919792406	0.43007	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	4.69	3.8	0.42887	1.351000	0.33626	.	.	0.526000	0.24426	0.563000	0.27449	0.998000	0.33993	0.222000	0.22517	0.0:0.895:0.0:0.105	8.887	0.34571	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029956	0.030303	0.046196	0.031915	0.000000	0.017241	0.012195	0.015152	0.02632	1327.33	33	chr6	30137212	.	C	A	1327.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=765;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.007;SOR=0.577	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1341,0,1687	18	0	1	0
chr6	30552590	30552590	C	T	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon8:c.G976A:p.E326K	.	415	1060	42	5	0	52	0.0239411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00638978	0.0074	0.0013	0.0049	0.0009	0.0011	0.0075	0.0056	0.0188	0.0070892	1096	154602	rs142398523	0.0071	0.0071	0.0066	0.0076	0.0439	0.0070	0.0069	0.0394	0.0377	0.0012	0.0057	0.0241	0.0005	0.0006	0.0439	0.0063	0.0090	0.0177	0.0052	0.0052	0.0052	0.0052	0.0141	0.0049	0.0048	0.0114	0.0104	0.0016	0	0.0059	0.0213	0.0015	0.0003	0.0340	0.0064	0.0142	0.0141	0.03	0.45393	D	0.019	0.59159	D	0.816	0.45573	P	0.227	0.38084	B	0.000482	0.43931	D	0.228733	0.999965	0.52935	D	1.845	0.48678	L	0.83	0.47815	T	-1.34	0.33401	N	0.426	0.46555	-1.0722	0.08936	T	0.035	0.15204	T	10	0.00442791	0.00090	T	.	.	.	0.132	0.35948	.	.	0.489576071459	0.48589	0.5364240969637265	0.53567	0.797786446455	0.66110	0.620034217834	0.55734	T	0.030408	0.21564	T	-0.402093	0.02244	T	-0.336075	0.40788	T	0.0221171863396322	0.00922	T	.	.	.	0.12927033	0.30197	0.23784553	0.49092	0.12927033	0.30197	0.23784553	0.49091	-7.849	0.60036	D	.	.	0.121	0.25166	B	.	.	3.627262	0.51366	23.1	0.99848947588688486	0.92838	0.94875	0.62633	D	AEFBHCI	0.752370	0.69289	D	0.0422544859961242	0.43786	2.664846	0.195451800292939	0.49595	3.161001	0.999999999755625	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	6.329000	0.72876	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.317	0.87113	814	0.42100	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	rs142398523	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026688	0.055556	0.027174	0.031915	0.000000	0.017241	0.003049	0.018939	0.02632	1230.33	33	chr6	30552590	.	C	T	1230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=719;ExcessHet=0;FS=2.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.227;SOR=0.464	GT:AD:DP:GQ:PL	0/1:49,44:93:99:1244,0,1240	18	0	1	0
chr6	30647356	30647356	C	T	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001161376:exon1:c.C125T:p.S42L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0609747409683	.	.	1.922e-05	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs780504031	7.241e-07	6.84e-07	1.431e-06	0	1.329e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.329e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19989	N	.	.	.	.	.	.	-0.22	0.10480	N	0.113	0.10056	-0.9623	0.38742	T	0.015	0.06138	T	7	0.04232827	0.02971	T	0.060975	0.68179	D	0.019	0.03383	0.12	0.02719	0.043077524339	0.03247	0.10605880622813212	0.10535	0.937674080103	0.72092	.	.	.	.	.	.	-0.197724	0.21133	T	-0.362317	0.37782	T	0.293783744210949	0.24747	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-3.459	0.15863	T	.	.	.	.	.	.	.	3.869286	0.56167	23.7	0.99724321775516311	0.82266	0.08311	0.14257	N	AEFDGBHCI	0.127450	0.24482	N	-0.911317606311665	0.10576	0.5060766	-0.831013619880643	0.13745	0.7146837	0.99999999999942	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.96	3.05	0.34272	2.099000	0.41392	.	.	-0.206000	0.08541	0.065000	0.21925	0.000000	0.08366	0.827000	0.38976	0.1717:0.7363:0.0:0.092	6.920	0.23565	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	33	chr6	30647356	.	C	T	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.034;DP=778;ExcessHet=0;FS=0.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.629;SOR=0.586	GT:AD:DP:GQ:PL	0/1:43,40:83:99:993,0,1166	18	0	1	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,50:128:99:0|1:31356739_C_A:1865,0,3125:31356739	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,87:205:99:0|1:31356797_C_T:3288,0,4672:31356797	3	7	9	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	11117.1	61	chr6	31412383	.	TG	*	11117.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.569;DP=1342;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.358;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,35:58:99:.:.:1376,0,837:.	12	0	7	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,35:58:99:.:.:1376,0,837:.	7	1	11	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,26:132:99:0|1:31625601_T_C:393,0,3693:31625601	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,26:132:99:0|1:31625601_T_C:393,0,3693:31625601	1	0	16	2
chr6	31680364	31680364	T	C	exonic	LY6G5C	.	nonsynonymous SNV	LY6G5C:NM_025262:exon1:c.A10G:p.M4V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00503598664031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.206	0.29860	B	0.058	0.26451	B	.	.	.	.	0.777449	0.34225	D	1.935	0.51832	L	0.88	0.46028	T	-1.43	0.35194	N	0.601	0.61933	-1.0926	0.05112	T	0.043	0.18410	T	9	0.2092562	0.37282	T	0.005036	0.12722	T	0.059	0.16972	0.223	0.14665	0.110392049598	0.10638	0.6688793873035414	0.66825	0.772873382426	0.64864	0.384739220142	0.22926	T	0.025409	0.19004	T	-0.102409	0.36026	T	-0.38488	0.35151	T	0.19728131972261	0.20265	T	0.444256	0.12390	T	0.3503901	0.57098	0.38477552	0.63410	0.3503901	0.57098	0.38477552	0.63410	-2.476	0.05620	T	.	.	0.154	0.34049	B	.	.	1.590921	0.20349	14.71	0.89659080974924976	0.18988	0.03387	0.08494	N	AEDBI	0.040306	0.05977	N	-0.645741701249888	0.17584	0.9060965	-0.658226860579429	0.18009	0.9601681	0.999968283489663	0.48965	0.57788	0.32782	0	0.593476	0.48661	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	3.63	2.42	0.28720	0.739000	0.25841	.	.	0.609000	0.47794	0.001000	0.13787	0.079000	0.22353	0.881000	0.42162	0.0:0.0:0.2343:0.7657	6.976	0.23856	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1452.33	42	chr6	31680364	.	T	C	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.622;DP=741;ExcessHet=0;FS=5.353;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.445;SOR=0.329	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1466,0,1244	18	0	1	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	493.65	225	chr6	32443853	.	C	G	493.65	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.718;DP=3186;ExcessHet=0.7564;FS=285.125;InbreedingCoeff=-0.1324;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=1.58;SOR=11.58	GT:AD:DP:GQ:PL	0/1:152,46:198:73:73,0,3732	15	0	4	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,39:182:99:0|1:32521957_G_A:1207,0,5887:32521957	5	0	11	3
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,35:174:99:0|1:32521978_GT_*:7324,5783,5731:32521978	5	0	11	3
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	25650.9	11	chr6	32521981	.	T	*	25650.9	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.318;DP=3616;ExcessHet=1.4183;FS=9.171;InbreedingCoeff=-0.0999;MLEAC=7;MLEAF=0.219;MQ=51.96;MQRankSum=-8.246;QD=10.3;ReadPosRankSum=-3.771;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,131:166:99:0|1:32521957_G_A:7060,1476,1075:32521957	11	1	4	3
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	44319.5	174	chr6	32522156	.	T	*	44319.5	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.806;DP=2448;ExcessHet=0.2833;FS=5.16;InbreedingCoeff=0.1857;MLEAC=7;MLEAF=0.184;MQ=51.87;MQRankSum=-12.7;QD=19.52;ReadPosRankSum=2.12;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,22:85:99:.:.:3547,2627,2579:.	11	0	8	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10272.1	171	chr6	32522157	.	C	*	10272.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.368;DP=2422;ExcessHet=1.0106;FS=0.579;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.84;MQRankSum=-11.54;QD=6.02;ReadPosRankSum=1.85;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,22:84:99:0|1:32522157_C_*:758,0,2243:32522157	12	0	7	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10338.1	171	chr6	32522159	.	T	*	10338.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.296;DP=2407;ExcessHet=1.0106;FS=1.216;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.76;MQRankSum=-11.38;QD=6.16;ReadPosRankSum=2.19;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,23:81:99:0|1:32522157_C_*:792,0,2072:32522157	12	0	7	0
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	16776.1	118	chr6	32530183	.	CTT	*	16776.1	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.4;DP=1987;ExcessHet=7.7183;FS=6.683;InbreedingCoeff=-0.3571;MLEAC=2;MLEAF=0.053;MQ=54.14;MQRankSum=-8.782;QD=9.02;ReadPosRankSum=-2.13;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,54:95:99:1|0:32530166_A_G:3929,1592,1417:32530166	17	0	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,54:95:99:1|1:32530166_A_G:2512,175,0:32530166	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,32:86:99:0|1:32530166_A_G:3611,2267,2171:32530166	2	5	11	1
chr6	32584176	32584178	CCG	0	exonic	HLA-DRB1	.	.	.	.	22	858	448	187	7	829	0.323877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	26443.9	403	chr6	32584176	.	CCG	*	26443.9	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.77;DP=4234;ExcessHet=4.2649;FS=1.308;InbreedingCoeff=-0.2116;MLEAC=1;MLEAF=0.026;MQ=52.64;MQRankSum=-2.183;QD=8.97;ReadPosRankSum=1.01;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,2:28:3:1|0:32584174_GCC_G:1173,1092,1107:32584174	17	0	2	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	36894.9	402	chr6	32584177	.	CG	*	36894.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=3.25;DP=4323;ExcessHet=5.5644;FS=1.8;InbreedingCoeff=-0.2667;MLEAC=11;MLEAF=0.289;MQ=53.78;MQRankSum=2.42;QD=9.69;ReadPosRankSum=0.473;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,26:28:78:1|1:32584174_GCC_G:1170,78,0:32584174	10	2	7	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,26:28:78:1|1:32584174_GCC_G:1170,78,0:32584174	3	2	14	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,82:147:99:0|1:32584279_A_G:6308,2735,2477:32584279	3	0	15	1
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,45:240:99:0|1:32641430_C_T:1303,0,8053:32641430	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,45:240:99:0|1:32641430_C_T:1303,0,8053:32641430	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,42:247:99:0|1:32641430_C_T:1144,0,8413:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,42:247:99:0|1:32641430_C_T:1144,0,8413:32641430	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,39:280:99:0|1:32641476_G_A:912,0,10002:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,47:299:99:0|1:32641476_G_A:1045,0,10411:32641476	4	4	11	0
chr6	33315386	33315386	G	A	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.C1531T:p.R511W,ZBTB22:NM_005453:exon2:c.C1531T:p.R511W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.0734317078374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.975	0.73362	D	0.009581	0.30291	N	0.000000	0.999992	0.58761	D	3.24	0.89678	M	2.08	0.20255	T	-4.7	0.79829	D	0.858	0.85979	-0.9326	0.43755	T	0.101	0.37468	T	10	0.8551097	0.84704	D	0.073432	0.71787	D	0.420	0.72930	0.583	0.70990	0.70680756224	0.70425	0.9352469572004236	0.93504	1.57551054884	0.88282	0.924082040787	0.98618	D	0.457373	0.79577	T	0.137782	0.68113	D	-0.0398618	0.67711	D	0.99809056520462	0.93215	D	0.978102	0.92255	D	0.24172634	0.47092	0.15533438	0.36416	0.24172634	0.47092	0.15533438	0.36415	-15.422	0.96763	D	.	.	0.981	0.91303	P	.;.	.;.	5.651039	0.92809	33	0.999046699838258	0.97576	0.86134	0.45358	D	AEFDBHCI	0.892282	0.82906	D	0.626600505434474	0.74862	6.205379	0.520934571405871	0.69400	5.355048	0.999999999998653	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.723	0.93126	0	.	.	4.22	3.33	0.37245	6.676000	0.74333	7.412000	0.58651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8109:0.1891	10.903	0.46272	620	0.66037	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2175.33	39	chr6	33315386	.	G	A	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.592;DP=807;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.2;SOR=0.784	GT:AD:DP:GQ:PL	0/1:83,87:170:99:2189,0,2055	18	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	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,26:76:88:.:.:88,0,810:.	3	0	11	5
chr6	38834592	38834592	T	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon31:c.T3665G:p.V1222G,DNAH8:NM_001206927:exon32:c.T4316G:p.V1439G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.041548279645	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199675909	4.136e-06	4.104e-06	6.858e-06	1.386e-06	0.0002	1.49e-06	9.8e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.519e-06	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	.	.	.	0.97	0.56973	D	0.735	0.55480	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.65	0.27650	T	-4.11	0.75854	D	0.583	0.63628	-1.0036	0.28874	T	0.090	0.34683	T	10	0.68702245	0.71624	D	0.041548	0.59986	D	0.275	0.59130	0.503	0.59615	0.843515243164	0.84202	0.766198406509535	0.76568	0.463922996623	0.45880	0.622367680073	0.56063	T	0.070193	0.33899	T	0.160206	0.70219	D	-0.007652	0.69838	D	0.99225789308548	0.82690	D	0.342666	0.07446	T	0.7988065	0.83829	0.77735406	0.86867	0.7988065	0.83831	0.77735406	0.86868	-10.817	0.78645	D	.	.	0.326	0.57963	B	.;.;.	.;.;.	3.317374	0.45614	22.2	0.99558055602525553	0.71583	0.97861	0.77680	D	AEFBI	0.798812	0.72525	D	0.61815735084733	0.74324	6.113213	0.617689544321263	0.76225	6.451783	0.757715370178817	0.23460	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.68	5.68	0.88021	5.699000	0.67967	7.728000	0.67649	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.939	0.79527	442	0.79946	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1095.33	33	chr6	38834592	.	T	G	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.388;DP=726;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.154;SOR=0.784	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1109,0,1373	18	0	1	0
chr6	43505287	43505287	G	A	exonic	TJAP1	.	nonsynonymous SNV	TJAP1:NM_001146020:exon9:c.G1076A:p.R359Q,TJAP1:NM_001146017:exon10:c.G1106A:p.R369Q,TJAP1:NM_001146019:exon10:c.G1076A:p.R359Q,TJAP1:NM_001350564:exon10:c.G1106A:p.R369Q,TJAP1:NM_001350566:exon10:c.G1106A:p.R369Q,TJAP1:NM_001350568:exon10:c.G1106A:p.R369Q,TJAP1:NM_001350569:exon10:c.G1076A:p.R359Q,TJAP1:NM_080604:exon10:c.G1076A:p.R359Q,TJAP1:NM_001146016:exon11:c.G1106A:p.R369Q,TJAP1:NM_001146018:exon11:c.G1076A:p.R359Q,TJAP1:NM_001350562:exon11:c.G1106A:p.R369Q,TJAP1:NM_001350563:exon11:c.G1106A:p.R369Q,TJAP1:NM_001350565:exon11:c.G1106A:p.R369Q,TJAP1:NM_001350567:exon11:c.G1106A:p.R369Q,TJAP1:NM_001350570:exon11:c.G1076A:p.R359Q,TJAP1:NM_001350561:exon12:c.G1106A:p.R369Q	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00506721382569	0.0045	0.00259585	0.0044	0.0015	0.0038	0	0.0023	0.0065	0.0011	0.0014	0.0042626	659	154602	rs147994267	0.0051	0.0051	0.0052	0.0049	0.0068	0.0050	0.0049	0.0058	0.0057	0.0013	0.0051	0.0006	2.519e-05	0.0026	0.0068	0.0059	0.0040	0.0015	0.0044	0.0044	0.0046	0.0042	0.0083	0.0041	0.0040	0.0071	0.0067	0.0012	0.0220	0.0083	0.0009	0	0.0013	0.0034	0.0064	0.0057	0.0008	0.008	0.58626	D	0.085	0.42086	T	0.992	0.64738	D	0.602	0.50862	P	0.000000	0.84330	D	0.051993	0.999099	0.46054	D	2.485	0.72352	M	.	.	.	-0.96	0.25551	N	0.043	0.03069	-0.9295	0.44212	T	0.113	0.40284	T	9	0.004631996	0.00097	T	0.005067	0.12846	T	0.124	0.34239	.	.	0.349647731962	0.34572	0.16760095331914018	0.16680	0.314085752718	0.33693	0.378207981586	0.22001	T	0.03401	0.23149	T	-0.292969	0.09339	T	-0.18988	0.55602	T	0.0252477974553826	0.01304	T	0.922108	0.71672	D	0.17670898	0.38597	0.12419386	0.29938	0.17670898	0.38597	0.12419386	0.29937	-4.201	0.26766	T	.	.	0.076	0.06024	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.916006	0.38697	20.8	0.99930522021398371	0.99334	0.95896	0.66622	D	AEFDBI	0.531580	0.55180	D	0.448148735865169	0.64099	4.656862	0.471163442073018	0.66086	4.906625	0.999999848894646	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.56	4.69	0.58546	1.731000	0.37758	3.330000	0.37619	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0747:0.1437:0.7816:0.0	9.526	0.38329	225	0.91282	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.006135	0.003788	0.02632	1682.33	85	chr6	43505287	.	G	A	1682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=810;ExcessHet=0;FS=2.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.122;SOR=0.677	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1696,0,1349	18	0	1	0
chr6	44166785	44166785	G	A	exonic	CAPN11	.	nonsynonymous SNV	CAPN11:NM_007058:exon2:c.G44A:p.S15N	.	413	1088	20	1	0	22	0.0100091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0292194920995	.	0.00179712	0.0029	0	0.0047	0.0015	0	0.0006	0.0039	0.0073	0.0005886	91	154602	rs184018090	0.0010	0.0010	0.0009	0.0012	0.0071	0.0010	0.0010	0.0066	0.0064	9.494e-05	0.0008	3.972e-05	5.597e-05	8.074e-05	0.0049	0.0007	0.0010	0.0071	0.0007	0.0007	0.0005	0.0009	0.0087	0.0006	0.0006	0.0066	0.0059	0.0002	0	0.0006	0.0003	0.0002	0	0	0.0006	0.0009	0.0087	0.0	0.91255	D	0.041	0.50514	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.74	0.90735	D	-0.16	0.11366	N	0.013	0.00142	-0.8195	0.53965	T	0.230	0.59571	T	9	0.0039018989	0.00074	T	0.029219	0.51767	D	0.192	0.47115	.	.	0.426084969639	0.42228	0.17094657105786304	0.17014	0.078352535382	0.08816	0.287228643894	0.08520	T	2.58E-4	0.00056	T	-0.437653	0.01335	T	-0.397988	0.33618	T	0.00729532215437788	0.00084	T	0.318368	0.07952	T	0.06864038	0.14970	0.086320244	0.19992	0.06864038	0.14970	0.086320244	0.19991	-4.34	0.28734	T	.	.	0.084	0.09578	B	.;.	.;.	0.014380	0.04381	1.132	0.8257640048727598	0.14264	0.00373	0.01896	N	AEFDBHCIJ	0.015051	0.00269	N	-1.31163451281577	0.03541	0.1583595	-1.38248497642257	0.03438	0.1603905	0.999995856291685	0.74766	0.517182	0.21443	0	0.478664	0.06816	1	0.658952	0.52864	0	0.530356	0.10902	0	.	.	1.21	-0.00771	0.13331	0.576000	0.23446	0.945000	0.22881	-0.979000	0.01905	0.005000	0.17040	0.069000	0.22184	0.002000	0.04165	0.6703:0.0:0.3297:0.0	2.988	0.05612	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002132	0.000000	0.005263	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1309.33	33	chr6	44166785	.	G	A	1309.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.021;DP=731;ExcessHet=0;FS=1.919;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=-0.439;SOR=0.55	GT:AD:DP:GQ:PL	0/1:27,55:82:99:1323,0,630	18	0	1	0
chr6	64591956	64591956	A	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon26:c.T3911C:p.I1304T,EYS:NM_001292009:exon26:c.T3911C:p.I1304T	Retinitis pigmentosa 25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0320239220772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.232	0.25362	T	0.372	0.34134	B	0.083	0.29179	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-1.64	0.82533	D	-0.34	0.14978	N	0.073	0.09207	-1.0188	0.24106	T	0.110	0.39747	T	9	0.08603218	0.14583	T	0.032024	0.53962	D	0.151	0.39764	0.562	0.68229	0.343334270461	0.33943	0.030123628360211593	0.02961	0.0097119950357	0.00885	0.262182593346	0.05153	T	0.041633	0.25923	T	-0.133813	0.30879	T	-0.42999	0.29937	T	0.109058275818825	0.13326	T	0.462454	0.13421	T	0.06279022	0.13153	0.07086316	0.15107	0.06279022	0.13152	0.07086316	0.15107	-3.847	0.21508	T	0.1217086793029826	0.11580	0.208	0.43544	B	.;.	.;.	0.817296	0.11882	8.449	0.95778722969692742	0.27796	0.06306	0.12301	N	AEFDI	0.066436	0.13009	N	-0.853039620679062	0.11975	0.5809884	-0.863112745516713	0.12973	0.6704063	1.71921246775635E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	0.622	0.16822	0.435000	0.21228	1.014000	0.23354	0.754000	0.88378	0.049000	0.21372	0.000000	0.08366	0.354000	0.25750	0.4656:0.1328:0.1453:0.2563	0.821	0.01040	517	0.74620	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1553.33	43	chr6	64591956	.	A	G	1553.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.498;DP=969;ExcessHet=0;FS=0.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.985;SOR=0.599	GT:AD:DP:GQ:PL	0/1:47,62:109:99:1567,0,1251	18	0	1	0
chr6	65303146	65303146	T	C	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.T625C:p.C209R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.195e-06	1.48e-06	0	6.057e-06	3.347e-05	5.3e-07	2e-07	5.55e-06	2.08e-06	0	0	0	0	0	0	0	0	3.347e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	569.33	25	chr6	65303146	.	T	C	569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.137;DP=701;ExcessHet=0;FS=1.3;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=26.81;MQRankSum=-0.18;QD=10.17;ReadPosRankSum=0.124;SOR=0.982	GT:AD:DP:GQ:PL	0/1:32,24:56:99:583,0,820	18	0	1	0
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7038.11	53	chr6	80007991	.	AGTTTT	A	7038.11	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.306;DP=1098;ExcessHet=8.9063;FS=201.643;InbreedingCoeff=-0.4074;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.705;SOR=11.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,12:41:99:.:.:666,0,771:.	15	0	4	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,12:41:99:.:.:666,0,771:.	1	0	11	7
chr6	80007993	80007993	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	397.65	21	chr6	80007993	.	T	*	397.65	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.741;DP=803;ExcessHet=12.7857;FS=238.801;InbreedingCoeff=-0.3118;MLEAC=12;MLEAF=0.75;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.99;SOR=10.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,12:41:99:.:.:666,0,771:.	1	0	7	11
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2459.5	21	chr6	80007995	.	T	*	2459.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,12:36:99:0|1:80007995_T_*:658,0,669:80007995	6	0	4	9
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	2295.91	21	chr6	80007996	.	T	TCCCCC	2295.91	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-0.62;DP=836;ExcessHet=2.6804;FS=364.496;InbreedingCoeff=-0.2035;MLEAC=6;MLEAF=0.273;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=0.99;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,12:36:99:1|0:80007995_T_*:255,0,771:80007995	7	0	4	8
chr6	87365206	87365206	A	T	exonic	C6orf163	.	nonsynonymous SNV	C6orf163:NM_001010868:exon5:c.A800T:p.Q267L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0178703898657	.	.	4.587e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs770366853	1.786e-05	1.71e-05	1.41e-05	2.173e-05	0.0005	1.226e-05	1.036e-05	0.0001	7.633e-05	0	0	0	0	0	0.0005	1.39e-05	0	8.834e-05	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.151	0.60972	T	.	.	.	.	.	.	0.000077	0.52346	D	0.084010	0.984399	0.40139	D	2.42	0.70002	M	.	.	.	-3.27	0.65512	D	0.421	0.48134	-0.4404	0.70717	T	0.286	0.65773	T	7	0.19274971	0.35016	T	0.01787	0.39735	T	0.160	0.41473	0.273	0.22369	0.495172024023	0.49151	0.5065732039410608	0.50579	.	.	.	.	.	0.104972	0.41501	T	-0.116791	0.33650	T	-0.115395	0.62179	T	0.455506884923092	0.31000	T	0.690631	0.30012	T	0.23611952	0.46458	0.20180039	0.44176	0.23611952	0.46458	0.20180039	0.44175	-5.968	0.46011	T	.	.	0.286	0.53386	B	.;.	.;.	4.142681	0.62078	24.4	0.99498878377640787	0.67916	0.82570	0.41779	D	AEFDGBHCI	0.499567	0.53319	N	0.388962767840738	0.60824	4.275666	0.430862725942508	0.63498	4.584577	0.999999672655869	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	5.386000	0.65987	7.024000	0.57277	0.756000	0.94297	0.961000	0.33663	0.999000	0.35428	0.744000	0.35576	1.0:0.0:0.0:0.0	14.345	0.66218	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2869.83	34	chr6	87365206	.	A	T	2869.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=868;ExcessHet=0.119;FS=2.076;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.441;SOR=0.574	GT:AD:DP:GQ:PL	0/1:87,67:154:99:1676,0,2353	17	0	2	0
chr6	89081399	89081399	C	T	exonic	PNRC1	.	nonsynonymous SNV	PNRC1:NM_006813:exon1:c.C505T:p.P169S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.00459265	0	.	0	.	.	0	.	0	0.0011142	29	26028	rs2231275	0.0003	0.0003	0.0003	0.0003	0.0135	0.0003	0.0003	0.0123	0.0118	0.0135	0.0012	0	0	0	0.0006	3.03e-06	0.0007	4.119e-05	0.0031	0.0031	0.0032	0.0029	0.0110	0.0029	0.0028	0.0101	0.0098	0.0110	0	0.0006	0	0	0	0	1.473e-05	0.0019	0	0.091	0.31834	T	0.34	0.18018	T	0.11	0.26188	B	0.05	0.25278	B	0.974389	0.07800	N	1.011270	0.759367	0.34020	D	1.355	0.33814	L	0.72	0.50976	T	-0.33	0.12472	N	0.163	0.17140	-1.0392	0.17556	T	0.039	0.16978	T	10	0.004592508	0.00096	T	.	.	.	0.027	0.05988	.	.	0.158540857583	0.15491	0.16811430994186338	0.16731	0.608241247554	0.55603	0.721310853958	0.70237	T	0.049234	0.28249	T	-0.552248	0.00283	T	-0.556647	0.16694	T	0.0815341905707356	0.10182	T	0.475352	0.14216	T	0.024744451	0.01337	0.064487346	0.12933	0.024744451	0.01337	0.064487346	0.12933	-4.438	0.30069	T	.	.	0.092	0.13456	B	.	.	0.773758	0.11435	8.045	0.65473224480516767	0.07782	0.70477	0.34606	D	ALL	0.114305	0.22519	N	-0.657083257022795	0.17254	0.8862924	-0.629160284850161	0.18745	1.00275	0.999999988336696	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.49	2.61	0.30255	0.768000	0.26252	.	.	-0.343000	0.05659	0.009000	0.18154	.	.	0.010000	0.09038	0.0:0.7392:0.1685:0.0923	7.347	0.25844	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	321.36	19	chr6	89081399	.	C	T	321.36	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.51;DP=364;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.0287;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-2.107;SOR=0.339	GT:AD:DP:GQ:PL	0/1:11,15:26:99:335,0,246	18	0	1	0
chr6	89662847	89662849	TCC	-	exonic	MDN1	.	nonframeshift deletion	MDN1:NM_014611:exon86:c.14355_14357del:p.E4786del	.	411	1109	2	0	0	2	0.000900901	.	.	.	3203838	MDN1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0062	.	0.0029	0.0003	0.0011	0	0.0011	0.0046	0.0033	0.0010	0.0004995	13	26028	rs575474661	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0058	0.0057	0.0007	0.0023	0.0002	0	0.0013	0.0016	0.0059	0.0045	0.0010	0.0032	0.0032	0.0036	0.0027	0.0053	0.0030	0.0029	0.0049	0.0047	0.0009	0.0121	0.0037	0	0	0.0009	0	0.0053	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	3622.29	36	chr6	89662846	.	TTCC	T	3622.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.782;DP=831;ExcessHet=0;FS=3.213;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.39;ReadPosRankSum=-0.411;SOR=0.705	GT:AD:DP:GQ:PL	0/1:102,95:197:99:3636,0,3874	18	0	1	0
chr6	99921217	99921217	A	G	exonic	MCHR2	.	nonsynonymous SNV	MCHR2:NM_001040179:exon6:c.T746C:p.L249S,MCHR2:NM_032503:exon6:c.T746C:p.L249S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0170585271207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.005	0.72224	D	0.943	0.53072	P	0.811	0.58656	P	0.000136	0.49741	D	0.000000	0.909255	0.36367	D	1.68	0.43186	L	1.08	0.39401	T	-2.83	0.59710	D	0.535	0.59308	-0.8943	0.48549	T	0.120	0.41971	T	10	0.6049487	0.67121	D	0.017059	0.38601	T	0.308	0.62947	0.594	0.72371	0.841903298536	0.84039	0.44096597141579424	0.44013	0.457118577895	0.45357	0.61709022522	0.55317	T	0.291077	0.66384	T	0.116807	0.66050	D	-0.0699911	0.65627	T	0.983211040496826	0.74964	D	0.669833	0.27843	T	0.30973274	0.53763	0.30906862	0.56923	0.30973274	0.53763	0.30906862	0.56922	-6.214	0.48036	T	.	.	0.747	0.74926	P	.;.	.;.	4.082994	0.60747	24.3	0.99822596374668127	0.90502	0.99364	0.95061	D	AEFI	0.866351	0.78574	D	0.610738470962459	0.73852	6.034449	0.616032815269675	0.76103	6.429913	0.473732226921075	0.20729	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	5.882000	0.69458	5.347000	0.48362	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	12.769	0.56785	486	0.77016	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	45.33	38	chr6	99921217	.	A	G	45.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.387;DP=1267;ExcessHet=0;FS=45.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.92;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,10:95:59:0|1:99921216_C_T:59,0,3235:99921216	18	0	1	0
chr6	106587707	106587707	C	G	exonic	RTN4IP1	.	nonsynonymous SNV	RTN4IP1:NM_001318746:exon7:c.G662C:p.G221A,RTN4IP1:NM_032730:exon7:c.G962C:p.G321A	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, Autosomal recessive	432	1078	10	2	0	14	0.00645161	.	.	YES	859454	Retinal_dystrophy|not_provided|Optic_atrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.0111272992217	7.7e-05	0.000199681	0.0007	0	0.0002	0	0	0.0002	0.0011	0.0043	0.0005757	89	154602	rs145695118	0.0004	0.0004	0.0002	0.0006	0.0059	0.0004	0.0003	0.0045	0.0043	0.0001	6.709e-05	0	0	0	0.0059	6.926e-05	0.0004	0.0049	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	7.216e-05	0	0.0001	0	0	0	0	0.0001	0	0.0027	0.56	0.06381	T	0.794	0.04142	T	0.585	0.38912	P	0.179	0.35808	B	0.000001	0.84330	D	0.095627	0.999991	0.81001	D	0.14	0.08730	N	1.06	0.39781	T	-0.27	0.11366	N	0.294	0.33250	-1.0738	0.08598	T	0.039	0.16935	T	10	0.008723468	0.00198	T	0.011127	0.28436	T	0.188	0.46444	.	.	0.377097596864	0.37317	0.796562215481821	0.79609	0.452195566295	0.44952	0.530304789543	0.43078	T	0.017298	0.14140	T	-0.505285	0.00534	T	-0.497767	0.22580	T	0.0457334771042511	0.04735	T	0.883212	0.60517	D	0.4897794	0.66490	0.36920756	0.62195	0.4897794	0.66490	0.36920756	0.62195	-3.888	0.22122	T	0.153122664218272	0.18190	0.081	0.08465	B	.	.	3.085182	0.41523	21.4	0.76432185195278002	0.11466	0.93025	0.57137	D	AEFDBI	0.487827	0.52641	N	0.114390587134181	0.47135	2.943376	0.287825068648412	0.54826	3.646716	0.99999995555624	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.16	6.16	0.99302	4.787000	0.62125	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.860	0.99763	859	0.33891	Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.005848	0.000000	0.000000	0.015337	0.003788	0.02632	2243.33	34	chr6	106587707	.	C	G	2243.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.023;DP=807;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.413;SOR=0.597	GT:AD:DP:GQ:PL	0/1:83,83:166:99:2257,0,2261	18	0	1	0
chr6	108510260	108510260	A	G	exonic	AFG1L	.	nonsynonymous SNV	AFG1L:NM_145315:exon11:c.A1111G:p.I371V	.	428	1039	53	2	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0038	0.0109824	0.0085	0.0014	0.0153	0.0012	0.0106	0.0049	0.0254	0.0250	0.0080141	1239	154602	rs138360237	0.0058	0.0059	0.0053	0.0064	0.0241	0.0057	0.0057	0.0232	0.0229	0.0011	0.0147	0.0006	0.0012	0.0094	0.0200	0.0042	0.0075	0.0241	0.0053	0.0053	0.0043	0.0063	0.0253	0.0050	0.0049	0.0216	0.0203	0.0014	0	0.0129	0	0.0023	0.0096	0.0306	0.0042	0.0080	0.0253	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.007	0.12992	B	0.000350	0.45440	N	0.189072	0.956236	0.26305	N	.	.	.	.	.	.	0.33	0.03889	N	0.131	0.12627	-0.9152	0.46194	T	0.008	0.02760	T	9	0.004039049	0.00078	T	.	.	.	0.056	0.15993	.	.	0.220303561663	0.21668	0.38883931469493593	0.38798	0.139313257321	0.15699	0.31643050909	0.12880	T	0.036745	0.24220	T	-0.516199	0.00463	T	-0.496007	0.22762	T	0.00023669731066395	0.00001	T	0.776522	0.40874	T	0.024594076	0.01307	0.02439755	0.00459	0.024594076	0.01307	0.02439755	0.00459	-3.216	0.12677	T	.	.	0.059	0.00820	B	.	.	0.295188	0.06710	3.220	0.52620152398608877	0.04782	0.12184	0.17112	N	AEFI	0.031337	0.03327	N	-0.776105234991012	0.13934	0.6901691	-0.528624764618231	0.21377	1.156134	0.207699325675775	0.18201	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.45	2.46	0.29032	1.514000	0.35441	0.797000	0.21623	-0.054000	0.16847	0.994000	0.38300	0.151000	0.23179	0.992000	0.67800	0.0827:0.2689:0.6484:0.0	8.828	0.34226	632	0.64850	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.025253	0.002717	0.020468	0.000000	0.008621	0.027439	0.034091	0.02632	1280.33	34	chr6	108510260	.	A	G	1280.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.166;DP=743;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.351;SOR=0.891	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1294,0,1629	18	0	1	0
chr6	122454224	122454224	C	A	exonic	SERINC1	.	nonsynonymous SNV	SERINC1:NM_020755:exon4:c.G378T:p.W126C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.246805860395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.198e-07	1.37e-06	0	1.444e-06	2.595e-05	0	0	.	.	0	0	0	2.595e-05	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	3.73	0.94857	H	0.11	0.61208	T	-12.26	0.99689	D	0.97	0.98065	0.283	0.87282	D	0.511	0.81618	D	10	0.9900285	0.99490	D	0.246806	0.88943	D	0.683	0.88396	0.934	0.99018	0.904592210685	0.90363	0.9532848778370155	0.95312	0.777335084149	0.65105	0.800435841084	0.82028	T	0.313983	0.68569	T	0.365368	0.87654	D	0.28705	0.87496	D	0.999934315681458	0.99782	D	0.989501	0.96541	D	0.9583766	0.97116	0.9024333	0.95149	0.9583766	0.97117	0.9024333	0.95150	-13.551	0.91505	D	.	.	0.991	0.93890	P	.	.	5.398805	0.90416	31	0.99400726254463501	0.62794	0.96890	0.71498	D	AEFBI	0.702772	0.65903	D	0.947740677484311	0.93895	12.35261	0.860637239632987	0.93621	12.16593	0.999999374860235	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	4.925000	0.63126	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.348	0.94360	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	341.33	17	chr6	122454224	.	C	A	341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.202;DP=582;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.956;SOR=0.859	GT:AD:DP:GQ:PL	0/1:23,14:37:99:355,0,635	18	0	1	0
chr6	130834932	130834932	T	-	exonic	SMLR1	.	frameshift deletion	SMLR1:NM_001195597:exon2:c.301delT:p.Y101Tfs*4	.	433	1087	2	0	0	2	0.000919118	.	.	.	2820698	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0	0.0054	0	0	0.0014	0	0.0032	0.0003074	8	26028	rs765201462	0.0028	0.0026	0.0027	0.0028	0.0032	0.0027	0.0027	0.0028	0.0028	0.0002	0.0005	7.952e-05	2.799e-05	0.0079	0.0002	0.0029	0.0022	0.0032	0.0024	0.0024	0.0021	0.0026	0.0034	0.0022	0.0021	0.0031	0.0029	0.0004	0	0.0006	0	0	0.0079	0	0.0034	0.0005	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1804.29	33	chr6	130834931	.	GT	G	1804.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.307;DP=733;ExcessHet=0;FS=0.765;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.036;SOR=0.803	GT:AD:DP:GQ:PL	0/1:43,52:95:99:1818,0,1450	18	0	1	0
chr6	130956250	130956250	G	A	exonic	EPB41L2	.	nonsynonymous SNV	EPB41L2:NM_001135554:exon2:c.C236T:p.P79L,EPB41L2:NM_001135555:exon2:c.C236T:p.P79L,EPB41L2:NM_001199388:exon2:c.C236T:p.P79L,EPB41L2:NM_001252660:exon2:c.C236T:p.P79L,EPB41L2:NM_001350299:exon2:c.C236T:p.P79L,EPB41L2:NM_001350301:exon2:c.C236T:p.P79L,EPB41L2:NM_001350302:exon2:c.C236T:p.P79L,EPB41L2:NM_001350303:exon2:c.C236T:p.P79L,EPB41L2:NM_001350304:exon2:c.C236T:p.P79L,EPB41L2:NM_001350305:exon2:c.C236T:p.P79L,EPB41L2:NM_001350306:exon2:c.C236T:p.P79L,EPB41L2:NM_001350307:exon2:c.C236T:p.P79L,EPB41L2:NM_001350308:exon2:c.C236T:p.P79L,EPB41L2:NM_001350309:exon2:c.C236T:p.P79L,EPB41L2:NM_001350310:exon2:c.C236T:p.P79L,EPB41L2:NM_001350311:exon2:c.C236T:p.P79L,EPB41L2:NM_001350312:exon2:c.C236T:p.P79L,EPB41L2:NM_001350313:exon2:c.C236T:p.P79L,EPB41L2:NM_001350314:exon2:c.C236T:p.P79L,EPB41L2:NM_001350315:exon2:c.C236T:p.P79L,EPB41L2:NM_001431:exon2:c.C236T:p.P79L	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.0511505999537	0.0018	0.000798722	0.0031	0.0003	0.0011	0	0.0080	0.0040	0.0044	0.0023	0.0028266	437	154602	rs144686133	0.0028	0.0028	0.0027	0.0028	0.0029	0.0027	0.0027	0.0028	0.0028	0.0002	0.0008	7.652e-05	5.038e-05	0.0073	0.0002	0.0029	0.0023	0.0029	0.0024	0.0024	0.0021	0.0026	0.0035	0.0022	0.0021	0.0029	0.0027	0.0005	0	0.0011	0	0	0.0080	0	0.0032	0.0005	0.0035	0.002	0.91255	D	0.11	0.92824	T	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.000000	0.999996	0.58761	D	1.895	0.50365	L	-1.79	0.84122	D	-3.91	0.98823	D	0.734	0.78072	0.303	0.87607	D	0.627	0.86879	D	10	0.014982134	0.00315	T	0.051151	0.64543	D	0.603	0.84345	.	.	0.853626787384	0.85221	0.6155727044105567	0.61489	0.561187484419	0.52626	0.681578755379	0.64495	T	0.510067	0.82661	D	0.045679	0.57784	T	0.293242	0.87866	D	0.0199905849654302	0.00700	T	0.978677	0.96919	D	0.24405195	0.47350	0.3402337	0.59778	0.24405195	0.47350	0.3402337	0.59778	-12.174	0.86042	D	.	.	0.721	0.83105	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.927090	0.81204	27.5	0.99862032267696077	0.94002	0.84136	0.43220	D	AEFGBHCI	0.797846	0.72456	D	0.730496843237386	0.81632	7.567838	0.76776489309684	0.87477	9.235785	0.999999991583696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.631631	0.49550	0	.	.	6.17	6.17	0.99707	7.343000	0.78559	11.808000	0.96852	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.060	0.93068	858	0.34001	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	3036.33	33	chr6	130956250	.	G	A	3036.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.61;DP=887;ExcessHet=0;FS=0.981;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.614;SOR=0.734	GT:AD:DP:GQ:PL	0/1:131,111:242:99:3050,0,3199	18	0	1	0
chr6	145945526	145945526	C	T	exonic	SHPRH	.	nonsynonymous SNV	SHPRH:NM_001042683:exon8:c.G1433A:p.R478Q,SHPRH:NM_001370327:exon8:c.G1433A:p.R478Q,SHPRH:NM_173082:exon8:c.G1433A:p.R478Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00871628231048	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333840757	7.529e-06	7.524e-06	8.172e-06	6.879e-06	0.0003	4.04e-06	2.95e-06	6.101e-05	2.525e-05	0	2.242e-05	0	0	0	0.0003	6.297e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.47320	D	0.148	0.56192	T	0.994	0.66517	D	0.811	0.58656	P	0.000066	0.52346	D	0.074265	0.977347	0.25318	N	1.575	0.39704	L	1.99	0.21666	T	-0.66	0.22727	N	0.135	0.19861	-1.0914	0.05303	T	0.040	0.17020	T	10	0.1537014	0.29007	T	0.008716	0.23025	T	0.094	0.27141	0.504	0.59770	0.33340067248	0.32956	0.3335721873357546	0.33270	0.391479022629	0.40346	0.466480731964	0.34198	T	0.373405	0.73741	T	-0.309757	0.07770	T	-0.599856	0.12823	T	0.508550348393291	0.32943	D	0.941606	0.78180	D	0.15231724	0.34582	0.1637585	0.37971	0.15231724	0.34581	0.1637585	0.37971	-8.322	0.63331	D	.	.	0.367	0.57622	A	.;.;.;.;.	.;.;.;.;.	5.167768	0.86607	29.0	0.99928753557443617	0.99222	0.72083	0.35296	D	AEFBI	0.107701	0.21449	N	0.017089564548991	0.42633	2.572403	-0.0145666961246194	0.39056	2.310032	5.27910176104065E-4	0.07225	0.706548	0.73137	0	0.708844	0.79440	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.52	2.79	0.31792	2.763000	0.47287	4.853000	0.45395	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.992000	0.67800	0.0:0.7891:0.0:0.2109	10.434	0.43612	358	0.85037	SNF2-related, N-terminal domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Helicase superfamily 1/2, ATP-binding domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15;.;SNF2-related, N-terminal domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Helicase superfamily 1/2, ATP-binding domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15;SNF2-related, N-terminal domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Helicase superfamily 1/2, ATP-binding domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15;SNF2-related, N-terminal domain|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1740.33	33	chr6	145945526	.	C	T	1740.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=766;ExcessHet=0;FS=3.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.695;SOR=0.439	GT:AD:DP:GQ:PL	0/1:78,70:148:99:1754,0,1703	18	0	1	0
chr6	150389354	150389354	G	A	exonic	IYD	.	startloss	IYD:NM_001164694:exon2:c.G181A:p.A61T,IYD:NM_001164695:exon2:c.G181A:p.A61T,IYD:NM_001318495:exon2:c.G3A:p.M1?,IYD:NM_203395:exon2:c.G181A:p.A61T	Thyroid dyshormonogenesis 4, Autosomal recessive	3	1479	38	2	0	42	0.014	.	.	.	721796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0012	0.00159744	0.0029	0.0002	0.0005	0.0002	0.0035	0.0016	0.0078	0.0122	0.0025161	389	154602	rs144193430	0.0021	0.0021	0.0017	0.0024	0.0127	0.0020	0.0020	0.0120	0.0118	0.0002	0.0007	0.0049	5.042e-05	0.0034	0.0085	0.0012	0.0025	0.0127	0.0018	0.0018	0.0014	0.0021	0.0158	0.0016	0.0015	0.0129	0.0119	0.0002	0	0.0014	0.0046	0.0004	0.0020	0.0137	0.0016	0.0028	0.0158	0.579	0.06049	T	0.584	0.08565	T	0.001	0.09854	B	0.001	0.06944	B	0.721854	0.09928	N	0.886530	0.997163	0.27117	N	1.59	0.40313	L	-2.13	0.86349	D	-0.02	0.07299	N	0.186	0.20395	-0.7583	0.57498	T	0.327	0.69538	T	10	0.0052779317	0.00139	T	.	.	.	0.136	0.36778	.	.	0.884877235316	0.88374	0.23092399812901218	0.23007	0.0592055756265	0.06579	0.238015964627	0.02614	T	0.022231	0.17174	T	-0.480227	0.00737	T	-0.451558	0.27525	T	0.0129155964144352	0.00222	T	0.520648	0.43505	T	0.040515486	0.05797	0.053523004	0.09033	0.040266983	0.05716	0.05825627	0.10733	-3.433	0.17125	T	.	.	0.070	0.05668	B	.;.;.;.;.;.	.;.;.;.;.;.	2.071575	0.26345	17.08	0.97923179626212065	0.36900	0.90815	0.52313	D	AEFBI	0.415524	0.48435	N	-0.237494783975278	0.31607	1.773902	-0.0906866889505324	0.35774	2.073705	0.00127860248535379	0.08400	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	4.53	0.55009	2.713000	0.46862	2.504000	0.33042	-0.106000	0.15538	0.997000	0.40164	0.535000	0.25384	0.942000	0.48361	0.1459:0.0:0.8541:0.0	10.780	0.45569	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.015152	0.05263	866.83	34	chr6	150389354	.	G	A	866.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.015;DP=640;ExcessHet=0.119;FS=2.079;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.528;SOR=1.066	GT:AD:DP:GQ:PL	0/1:18,17:35:99:488,0,531	17	0	2	0
chr6	156778665	156778665	G	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.G985A:p.G329S,ARID1B:NM_001374828:exon1:c.G985A:p.G329S,ARID1B:NM_017519:exon1:c.G985A:p.G329S,ARID1B:NM_001371656:exon2:c.G985A:p.G329S	Coffin-Siris syndrome 1, Autosomal dominant	1	1454	61	6	0	73	0.0244884	.	.	.	207349	not_specified|Inborn_genetic_diseases|not_provided|Coffin-Siris_syndrome_1	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	.	.	0.000998403	0.0042	0	0	0	.	0.0105	0.0085	0.0020	0.0005304	82	154602	rs375160616	0.0057	0.0054	0.0059	0.0056	0.0212	0.0056	0.0056	0.0179	0.0167	0.0019	0.0047	0.0101	3.289e-05	0.0014	0.0212	0.0063	0.0058	0.0025	0.0047	0.0047	0.0055	0.0040	0.0076	0.0044	0.0043	0.0065	0.0060	0.0012	0.0541	0.0076	0.0090	0	0.0014	0.0208	0.0063	0.0077	0.0019	0.0	0.91255	D	0.502	0.11115	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	0.99806	0.22374	N	1.1	0.28011	L	3.73	0.03982	T	-0.54	0.16598	N	0.119	0.10911	-0.9001	0.47983	T	0.003	0.00897	T	9	0.0049165785	0.00105	T	.	.	.	0.060	0.17295	.	.	0.0934897674506	0.08844	0.13403362991275802	0.13327	0.291417743539	0.31552	0.872212529182	0.92884	D	0.01296	0.11294	T	-0.646012	0.00077	T	-0.697839	0.05944	T	0.0762739138226754	0.09504	T	0.514549	0.19192	T	0.19176523	0.40818	0.24653356	0.50165	0.15059175	0.34276	0.19889103	0.43743	-4.616	0.32372	T	.	.	0.078	0.06756	B	.;.;.;.	.;.;.;.	2.943074	0.39137	20.9	0.97329888956382771	0.33418	0.06818	0.12842	N	AEFDBHCIJ	0.048428	0.08264	N	-0.610752536718014	0.18620	0.9681884	-0.499574705844725	0.22166	1.202612	0.999999168842093	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.47417	0.07244	0	0.492483	0.08430	1	.	.	2.65	1.31	0.20837	0.438000	0.21277	7.060000	0.57403	0.397000	0.20528	0.992000	0.37556	1.000000	0.68203	0.962000	0.52141	0.4178:0.0:0.5822:0.0	4.791	0.12619	931	0.16308	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015432	0.000000	0.000000	0.053922	0.000000	0.000000	0.000000	0.014286	0.07895	2670.79	33	chr6	156778665	.	G	A	2670.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.35;DP=768;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.589;SOR=0.719	GT:AD:DP:GQ:PL	0/1:30,26:56:99:795,0,647	16	0	3	0
chr6	159036837	159036837	T	A	exonic	TAGAP	.	nonsynonymous SNV	TAGAP:NM_001278733:exon6:c.A997T:p.T333S,TAGAP:NM_152133:exon9:c.A652T:p.T218S,TAGAP:NM_054114:exon10:c.A1186T:p.T396S	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.00596050113774	0.0042	0.00119808	0.0036	0.0008	0.0022	0.0002	0.0014	0.0057	0.0033	0.0010	0.0037063	573	154602	rs75182303	0.0043	0.0043	0.0043	0.0043	0.0048	0.0042	0.0042	0.0047	0.0046	0.0005	0.0025	0.0155	0	0.0009	0.0045	0.0048	0.0046	0.0009	0.0033	0.0033	0.0037	0.0028	0.0049	0.0030	0.0029	0.0045	0.0043	0.0007	0	0.0033	0.0158	0	0.0010	0.0034	0.0049	0.0066	0.0004	0.059	0.47745	T	0.099	0.38891	T	0.001	0.07471	B	0.001	0.04355	B	0.004443	0.33730	N	0.284115	1	0.08975	N	0.895	0.22405	L	2.34	0.16351	T	0.48	0.03955	N	0.025	0.00485	-0.9233	0.45098	T	0.008	0.02638	T	10	0.0041918457	0.00083	T	0.005961	0.15549	T	0.110	0.31079	.	.	0.043077524339	0.03247	0.11364073844363018	0.11292	0.289659298319	0.31376	0.312203705311	0.12240	T	0.011737	0.10428	T	-0.712963	0.00031	T	-0.79567	0.02013	T	0.0140637359905608	0.00273	T	0.477752	0.14377	T	0.033370193	0.03541	0.040683378	0.04453	0.033370193	0.03540	0.040683378	0.04452	-3.317	0.14074	T	.	.	0.084	0.15520	B	.;.	.;.	1.777217	0.22601	15.68	0.56157531756819812	0.05492	0.81047	0.40536	D	AEFDBI	0.308432	0.41502	N	-1.02813371275333	0.08023	0.3747644	-0.929897791203934	0.11391	0.5800033	0.985512938491062	0.30900	0.517182	0.21443	0	0.546412	0.12157	0	0.478664	0.07449	1	0.564101	0.26826	0	.	.	6.05	2.21	0.27042	4.091000	0.57425	2.767000	0.34644	-0.902000	0.02317	1.000000	0.71638	0.995000	0.32472	0.002000	0.04165	0.114:0.0662:0.1546:0.6652	4.45	0.11038	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	0.005539	0.030303	0.002717	0.000000	0.050000	0.008621	0.003049	0.000000	0.02632	1885.33	34	chr6	159036837	.	T	A	1885.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.978;DP=824;ExcessHet=0;FS=1.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-2.832;SOR=0.829	GT:AD:DP:GQ:PL	0/1:87,78:165:99:1899,0,2270	18	0	1	0
chr6	166929618	166929618	G	T	exonic	RNASET2	.	nonsynonymous SNV	RNASET2:NM_003730:exon9:c.C741A:p.F247L	Leukoencephalopathy, cystic, without megalencephaly, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	299596	not_provided|Cystic_leukoencephalopathy_without_megalencephaly	MedGen:C3661900|MONDO:MONDO:0013058,MedGen:C2751843,OMIM:612951,Orphanet:85136	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.00986433367316	7.7e-05	0.00139776	0.0006	0	0	0.0075	0	0.0002	0	0.0001	0.0005757	89	154602	rs140357917	0.0002	0.0002	0.0002	0.0003	0.0036	0.0002	0.0002	0.0031	0.0030	2.987e-05	8.944e-05	0.0019	0.0036	1.872e-05	0	6.205e-05	0.0009	0.0003	0.0003	0.0003	0.0003	0.0003	0.0046	0.0002	0.0002	0.0032	0.0027	0	0	0	0.0020	0.0046	0	0	0.0001	0.0005	0.0008	0.35	0.14064	T	0.316	0.30926	T	0.008	0.14655	B	0.013	0.16460	B	0.096952	0.20051	N	0.515001	1	0.08975	N	1.965	0.53209	M	-0.19	0.67712	T	-3.02	0.62630	D	0.13	0.13055	-1.0111	0.26573	T	0.049	0.20711	T	10	0.0063337684	0.00143	T	0.009864	0.25698	T	0.074	0.21613	0.438	0.49157	0.402614778071	0.39880	0.6481436383893806	0.64750	0.275891738866	0.30067	0.497006416321	0.38411	T	0.025681	0.29635	T	-0.438424	0.01321	T	-0.397555	0.33668	T	0.0254510310482697	0.01332	T	0.630137	0.24490	T	0.2814514	0.51188	0.1747186	0.39887	0.26085922	0.49142	0.14827937	0.35056	-6.255	0.48365	T	.	.	0.923	0.85993	P	.;.;.;.;.	.;.;.;.;.	1.015329	0.13947	10.51	0.91048630316545287	0.20300	0.06999	0.13025	N	AEFDBCI	0.135577	0.25596	N	-1.50193667777315	0.01837	0.08055719	-1.52901293696411	0.02124	0.09720633	0.999396782484258	0.39470	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.57	-5.47	0.02396	-0.696000	0.05205	-0.004000	0.13159	-0.774000	0.03397	0.321000	0.25511	0.571000	0.25572	0.967000	0.53440	0.2023:0.0:0.6897:0.108	8.862	0.34421	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1202.33	38	chr6	166929618	.	G	T	1202.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.693;DP=722;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.139;SOR=0.59	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1216,0,1381	18	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3205.38	29	chr6	167976273	.	A	*	3205.38	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.21;DP=943;ExcessHet=0.0378;FS=5.934;InbreedingCoeff=0.3968;MLEAC=9;MLEAF=0.25;MQ=56.14;MQRankSum=-2.716;QD=6.51;ReadPosRankSum=0.409;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,11:69:99:.:.:2735,2245,2402:.	11	2	5	1
chr6	167976347	167976372	GGGGGTCATTCCCCCTGCAGTGTGGG	-	exonic	HGC6.3	.	frameshift deletion	HGC6.3:NM_001129895:exon1:c.281_306del:p.P94Hfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	0.0080	0.0033	0.0155	0.0294	0.0031	0	0.0107	0.0001537	4	26028	rs748173416	0.0002	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0014	0.0013	6.092e-05	0	0.0005	0	0.0007	0	7.177e-05	0.0003	0.0018	0.0007	0.0009	0.0006	0.0009	0.0021	0.0006	0.0005	0.0010	0.0008	0.0004	0.0013	0.0016	0.0003	0.0020	0.0007	0	0.0006	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2157.63	47	chr6	167976346	.	TGGGGGTCATTCCCCCTGCAGTGTGGG	T	2157.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.871;DP=1032;ExcessHet=0.7564;FS=9.385;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=55.02;MQRankSum=-0.624;QD=6.29;ReadPosRankSum=2.01;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,15:92:99:0|1:167976186_T_C:296,0,2922:167976186	18	0	1	0
chr6	168664103	168664103	A	G	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon12:c.A1315G:p.N439D,SMOC2:NM_022138:exon12:c.A1348G:p.N450D	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	4	1504	13	1	0	15	0.00496196	.	.	.	710334	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0059	0.00219649	0.0054	0.0016	0.0024	0	0.0112	0.0076	0.0067	0.0019	0.0052845	817	154602	rs118133242	0.0058	0.0058	0.0057	0.0058	0.0061	0.0057	0.0056	0.0060	0.0060	0.0007	0.0031	0.0148	0	0.0107	0.0058	0.0061	0.0056	0.0016	0.0061	0.0061	0.0062	0.0060	0.0082	0.0058	0.0057	0.0076	0.0074	0.0011	0	0.0059	0.0181	0	0.0143	0.0068	0.0082	0.0080	0.0012	0.166	0.49613	T	0.042	0.50514	D	0.034	0.36363	B	0.025	0.31211	B	0.011281	0.29595	N	0.187332	0.988284	0.24427	N	0.895	0.22405	L	1.37	0.34253	T	-0.99	0.38734	N	0.342	0.41853	-1.0596	0.11855	T	0.021	0.08824	T	10	0.006231904	0.00140	T	.	.	.	0.019	0.03383	.	.	0.3691244813	0.36518	0.1196677143027038	0.11893	0.189727535353	0.21295	0.489148974419	0.37320	T	0.027255	0.19999	T	-0.539061	0.00339	T	-0.536713	0.18621	T	0.00268472858241418	0.00028	T	0.633837	0.28590	T	0.07335905	0.16386	0.08228509	0.18768	0.06620996	0.14223	0.08228509	0.18767	-3.199	0.12468	T	.	.	0.096	0.34470	B	.;.;.	.;.;.	1.529079	0.19621	14.36	0.99333313551211133	0.59856	0.10268	0.15821	N	AEFBI	0.082443	0.16692	N	-0.565855201786278	0.19989	1.050462	-0.552206593589895	0.20748	1.119227	7.69483742683958E-4	0.07776	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.56	2.39	0.28492	1.086000	0.30464	1.514000	0.27045	0.756000	0.94297	0.066000	0.21956	0.000000	0.08366	0.696000	0.34018	0.8689:0.0:0.1311:0.0	5.465	0.15932	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003064	0.000000	0.004087	0.014620	0.000000	0.000000	0.000000	0.003817	0.02632	611.33	33	chr6	168664103	.	A	G	611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.421;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.835;SOR=0.769	GT:AD:DP:GQ:PL	0/1:31,28:59:99:625,0,795	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79:79:99:1|1:170561949_GCAA_G:3295,239,0:170561949	0	12	7	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,64:98:99:1|0:170561949_GCAA_G:5306,1309,991:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,45:114:99:0|1:170561949_GCAA_G:2082,0,2193:170561949	6	5	8	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,12:33:99:.:.:100,0,243:.	2	0	16	1
chr7	5761060	5761060	C	T	exonic	RNF216	.	nonsynonymous SNV	RNF216:NM_207111:exon2:c.G10A:p.G4R,RNF216:NM_207116:exon2:c.G10A:p.G4R,RNF216:NM_001377156:exon3:c.G10A:p.G4R	Cerebellar ataxia and hypogonadotropic hypogonadism, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00859558098018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.205e-06	5.473e-06	2.791e-06	5.634e-06	0.0007	1.51e-06	9.9e-07	0.0002	0.0001	0	0	0	0	0	0.0007	9.09e-07	0	1.253e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.301	0.20293	T	0.033	0.25827	B	0.04	0.28749	B	0.024872	0.26187	N	0.339230	0.624449	0.32734	D	1.31	0.32734	L	0.66	0.59583	T	-1.54	0.96495	N	0.378	0.50508	-0.9617	0.38858	T	0.108	0.39221	T	10	0.08032864	0.13025	T	0.008596	0.22730	T	0.044	0.11924	0.285	0.24280	0.516884031612	0.51331	0.2221261524255763	0.22127	0.0333891942858	0.03491	0.614716649055	0.54982	T	0.045139	0.27032	T	-0.0948132	0.37281	T	-0.373969	0.36426	T	0.280263334512711	0.24182	T	0.844016	0.52137	T	0.10036463	0.23698	0.076709464	0.17018	0.10036463	0.23698	0.076709464	0.17017	-3.69	0.19171	T	.	.	0.195	0.41541	B	.;.;.	.;.;.	2.414213	0.31037	18.62	0.99869449918353292	0.94726	0.63042	0.31966	D	AEFGBI	0.086130	0.17462	N	-0.379724614834061	0.26193	1.427622	-0.227752595582481	0.30545	1.720812	0.621988424213661	0.21893	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.88	3.06	0.34374	1.756000	0.38018	3.203000	0.36761	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.982000	0.59238	0.0:0.7992:0.0:0.2008	7.470	0.26514	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	.	.	.	.	.	.	.	.	0.02632	712.33	40	chr7	5761060	.	C	T	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.244;DP=731;ExcessHet=0;FS=2.018;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.13;MQRankSum=0.472;QD=10.63;ReadPosRankSum=1.84;SOR=0.478	GT:AD:DP:GQ:PL	0/1:39,28:67:99:726,0,1100	18	0	1	0
chr7	6590452	6590452	A	G	exonic	C7orf26	.	nonsynonymous SNV	C7orf26:NM_001303039:exon1:c.A169G:p.K57E,C7orf26:NM_024067:exon1:c.A169G:p.K57E	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0522663133896	.	0.000798722	0.0008	0	0	0	0	9.633e-05	0.0024	0.0041	0.0004075	63	154602	rs370746279	0.0002	0.0002	8.806e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	2.341e-05	0	0	0	0.0008	1.901e-05	0.0002	0.0029	0.0001	0.0001	9.003e-05	0.0002	0.0029	8.169e-05	6.725e-05	0.0018	0.0014	0	0	0	0	0	0	0.0034	4.413e-05	0.0005	0.0029	0.406	0.13925	T	0.047	0.92824	D	0.982	0.60036	D	0.702	0.54226	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.075	0.57047	M	0.96	0.42888	T	-0.42	0.14193	N	0.31	0.48504	-0.9183	0.45783	T	0.151	0.47909	T	10	0.008075923	0.00183	T	0.052266	0.65000	D	0.117	0.32689	0.37	0.38013	0.138757226776	0.13463	0.3990342180736399	0.39818	0.635579275713	0.57371	.	.	.	0.016811	0.13826	T	-0.33768	0.05551	T	-0.261822	0.48642	T	0.12418500836289	0.14834	T	0.782722	0.41876	T	0.53197986	0.68943	0.5349333	0.73126	0.53197986	0.68944	0.5349333	0.73126	-2.683	0.07161	T	.	.	0.517	0.65350	A	.;.	.;.	4.159129	0.62453	24.5	0.98292953522571713	0.39964	0.90205	0.51199	D	ALL	0.802020	0.72756	D	0.508862784662724	0.67611	5.104941	0.515262915011653	0.69015	5.300533	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.72	4.72	0.59248	3.381000	0.52188	.	.	0.739000	0.86063	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.497	0.55276	842	0.36989	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	389.33	34	chr7	6590452	.	A	G	389.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=591;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.066;SOR=0.787	GT:AD:DP:GQ:PL	0/1:13,16:29:99:403,0,322	18	0	1	0
chr7	21739662	21739662	C	T	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon48:c.C7903T:p.P2635S	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2890160	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.300	0.0354828552397	.	0.000199681	8.291e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs572404327	4.112e-06	4.104e-06	4.09e-06	4.134e-06	5.042e-05	1.48e-06	9.7e-07	8.35e-06	3.13e-06	0	0	0	5.042e-05	0	0	1.801e-06	0	2.338e-05	6.567e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.111	0.29029	T	0.051	0.47828	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999911	0.51042	D	.	.	.	0.75	0.50192	T	-5.07	0.82830	D	0.435	0.47395	-0.7074	0.60080	T	0.251	0.62084	T	9	0.5724717	0.65395	D	0.035483	0.56377	D	0.300	0.62068	0.598	0.72862	0.49376247819	0.49010	0.357540893155694	0.35668	.	.	0.480453908443	0.36119	T	0.346306	0.71459	T	-0.265309	0.12285	T	-0.393173	0.34180	T	0.765690863132477	0.44183	D	0.962504	0.88224	D	0.37950653	0.59281	0.47665557	0.69677	0.37950653	0.59281	0.47665557	0.69678	-5.914	0.45554	T	0.4145619030192883	0.50432	0.097	0.36830	B	.;.;.;.	.;.;.;.	2.360722	0.30275	18.39	0.997798602918746	0.86693	0.95211	0.63849	D	AEFBI	0.535334	0.55400	D	0.379276934710121	0.60300	4.217494	0.321816311261311	0.56824	3.846401	0.998029065147859	0.36327	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	2.669000	0.46490	4.846000	0.45329	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.277000	0.23942	0.0:0.9299:0.0:0.0701	14.991	0.71043	867	0.32089	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase 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	.	.	.	.	.	.	.	.	0.02632	897.33	46	chr7	21739662	.	C	T	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.154;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.264;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,25:71:99:0|1:21739660_A_G:911,0,1836:21739660	18	0	1	0
chr7	28956680	28956680	-	GCTGCG	exonic	TRIL	.	nonframeshift insertion	TRIL:NM_014817:exon1:c.1366_1367insCGCAGC:p.Q455_L456insPQ	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.994e-05	0	0	0.0002	0	8.472e-05	9.7e-05	15	154602	rs774355324	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	9.638e-05	0	0	0	0.0014	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0002	2.409e-05	0	0.0001	0	0	9.427e-05	0	0.0003	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1202.29	46	chr7	28956680	.	A	AGCTGCG	1202.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.091;DP=1196;ExcessHet=0;FS=1.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.68;ReadPosRankSum=-0.529;SOR=0.976	GT:AD:DP:GQ:PL	0/1:36,32:68:99:1216,0,1416	18	0	1	0
chr7	30594967	30594969	CTG	-	exonic	GARS1	.	nonframeshift deletion	GARS1:NM_002047:exon1:c.46_48del:p.L20del	.	6	1491	25	0	0	25	0.00831393	.	.	.	395622	not_provided|not_specified|GARS1-related_disorder|Charcot-Marie-Tooth_disease_type_2	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0617	.	0.0248	0.0318	0.0308	0.0277	0.0185	0.0263	0.0315	0.0138	0.0001921	5	26028	rs1060504732	0.0002	0.0036	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0001	0.0007	0.0004	0.0001	0.0007	0.0004	0.0001	0.0002	0.0005	0	5.256e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091327	0.043011	0.106267	0.058824	0.050000	0.103448	0.080745	0.122137	0.02632	31.3	31	chr7	30594966	.	TCTG	T	31.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.98;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-0.484;SOR=0.752	GT:AD:DP:GQ:PL	0/1:27,3:30:45:45,0,1104	18	0	1	0
chr7	40860388	40860388	C	T	exonic	SUGCT	.	nonsynonymous SNV	SUGCT:NM_001193312:exon13:c.C1082T:p.T361M,SUGCT:NM_001193313:exon14:c.C1226T:p.T409M,SUGCT:NM_001193311:exon15:c.C1304T:p.T435M,SUGCT:NM_024728:exon15:c.C1193T:p.T398M	Glutaric aciduria III, Autosomal recessive	423	1094	5	0	0	5	0.00227998	.	.	.	549936	not_provided|SUGCT-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.402	.	0.0028	0.00219649	0.0049	0.0003	0.0010	0.0001	0.0314	0.0045	0.0100	0.0038	0.0044243	684	154602	rs192063213	0.0042	0.0042	0.0041	0.0043	0.0042	0.0041	0.0041	0.0039	0.0037	0.0004	0.0009	0.0001	2.519e-05	0.0312	0.0016	0.0034	0.0046	0.0042	0.0045	0.0045	0.0032	0.0058	0.0039	0.0042	0.0041	0.0035	0.0033	0.0007	0	0.0013	0	0.0002	0.0330	0	0.0039	0.0014	0.0029	0.074	0.36709	T	0.053	0.54159	T	0.019	0.17989	B	0.018	0.18489	B	0.022496	0.01574	N	2.269920	1	0.08975	N	1.355	0.33814	L	-0.05	0.63403	T	-1.3	0.34596	N	0.129	0.12341	-0.7791	0.56353	T	0.314	0.68433	T	10	0.0041528344	0.00082	T	.	.	.	0.402	0.71558	.	.	0.0551355673512	0.04727	0.4418472074531703	0.44101	.	.	.	.	.	0.09325	0.39172	T	-0.331473	0.06001	T	-0.247824	0.50032	T	0.00535397495144752	0.00058	T	0.436756	0.41780	T	0.025988776	0.01600	0.06695644	0.13788	0.03558283	0.04214	0.078303196	0.17525	-5.426	0.41169	T	.	.	0.076	0.13315	B	.;.;.	.;.;.	-0.285462	0.02682	0.346	0.82834308858441941	0.14400	0.03564	0.08772	N	AEFGBCI	0.045194	0.07363	N	-1.69921618547489	0.00845	0.03653409	-1.79498626131143	0.00775	0.03458496	0.999998107360934	0.74766	0.538911	0.22237	0	0.588015	0.36545	0	0.607057	0.38367	0	0.620846	0.47308	0	.	.	5.51	-7.26	0.01317	-0.524000	0.06309	-1.591000	0.05105	-1.882000	0.00541	0.000000	0.06391	0.000000	0.08366	0.135000	0.19760	0.3946:0.2838:0.1039:0.2178	1.433	0.02196	891	0.26808	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1710.33	42	chr7	40860388	.	C	T	1710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.32;DP=905;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.214;SOR=0.659	GT:AD:DP:GQ:PL	0/1:95,71:166:99:1724,0,2291	18	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:77,30:107:14:14,0,1474	10	0	9	0
chr7	44058434	44058434	C	T	exonic	DBNL	.	nonsynonymous SNV	DBNL:NM_001284313:exon6:c.C398T:p.T133M,DBNL:NM_001284315:exon6:c.C425T:p.T142M,DBNL:NM_001014436:exon8:c.C707T:p.T236M,DBNL:NM_001122956:exon8:c.C710T:p.T237M,DBNL:NM_001362723:exon8:c.C707T:p.T236M,DBNL:NM_014063:exon8:c.C710T:p.T237M	.	430	1063	26	3	0	32	0.0148285	.	.	.	2828416	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.067	0.0290858482002	0.0018	0.00199681	0.0025	0.0006	0.0050	0	0.0005	0.0031	0.0091	0.0012	0.0025032	387	154602	rs147233974	0.0023	0.0023	0.0022	0.0023	0.0151	0.0022	0.0022	0.0125	0.0116	0.0012	0.0042	0.0023	7.557e-05	0.0002	0.0151	0.0023	0.0029	0.0015	0.0020	0.0020	0.0019	0.0021	0.0044	0.0018	0.0018	0.0036	0.0033	0.0005	0	0.0044	0.0020	0	9.411e-05	0.0374	0.0026	0.0057	0.0027	0.077	0.34095	T	0.1	0.38742	T	0.966	0.70673	D	0.326	0.57495	B	0.018866	0.01497	U	4.697910	0.973912	0.29272	N	2.14	0.59869	M	1.92	0.31987	T	-0.71	0.20145	N	0.142	0.23632	-1.0653	0.10479	T	0.089	0.34188	T	10	0.0039149225	0.00075	T	0.029086	0.51659	D	0.067	0.19503	.	.	0.727266359203	0.72484	0.11274168268765865	0.11202	0.280312759657	0.30512	0.387506514788	0.23317	T	0.053909	0.29574	T	-0.51088	0.00496	T	-0.508726	0.21446	T	0.026301207779149	0.01447	T	0.509649	0.27701	T	0.044559132	0.07143	0.03565536	0.02858	0.044559132	0.07142	0.03565536	0.02858	-6.353	0.49345	T	.	.	0.078	0.10787	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.260788	0.28888	17.94	0.99611637508511397	0.74873	0.74282	0.36336	D	ALL	0.223186	0.34758	N	-0.19036515644783	0.33534	1.903626	-0.231055662174674	0.30430	1.713258	0.999999843721033	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	2.13	0.26445	2.386000	0.44034	0.988000	0.23172	0.599000	0.40250	0.946000	0.32893	0.027000	0.21108	0.136000	0.19798	0.3743:0.4254:0.092:0.1082	3.312	0.06609	693	0.58582	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018687	0.000000	0.028533	0.020588	0.000000	0.025862	0.018405	0.011450	0.02632	1263.33	35	chr7	44058434	.	C	T	1263.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.489;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.14;SOR=0.651	GT:AD:DP:GQ:PL	0/1:52,55:107:99:1277,0,1222	18	0	1	0
chr7	47415145	47415145	A	G	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon11:c.T535C:p.F179L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.278834789446	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773600889	6.849e-07	6.84e-07	1.363e-06	0	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000004	0.62929	D	0.106561	0.999752	0.48800	D	2.275	0.64647	M	-1.81	0.83970	D	-5.02	0.88699	D	0.8	0.83987	0.286	0.87332	D	0.688	0.89228	D	10	0.9366809	0.92997	D	0.278835	0.90156	D	0.798	0.93385	0.796	0.91657	0.609852891598	0.60671	0.5829698904869501	0.58225	.	.	0.709898233414	0.68579	T	0.575277	0.86004	D	0.274365	0.80828	D	0.15633	0.80580	D	0.995512545108795	0.87564	D	0.947705	0.82184	D	0.5233112	0.68449	0.54995704	0.73979	0.5233112	0.68450	0.54995704	0.73980	-9.122	0.68479	D	.	.	0.988	0.92981	P	.;.;.;.;.	.;.;.;.;.	4.319704	0.66108	24.9	0.99882211436039403	0.95813	0.98026	0.78979	D	AEFGBI	0.881240	0.80845	D	0.645058386596617	0.76049	6.415	0.611291402821204	0.75758	6.367664	0.999999999812818	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	8.259000	0.89790	10.901000	0.84138	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	1.0:0.0:0.0:0.0	11.618	0.50361	906	0.23090	Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Protein-tyrosine phosphatase, catalytic|Tensin phosphatase, C2 domain;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Protein-tyrosine phosphatase, catalytic|Tensin phosphatase, C2 domain;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Protein-tyrosine phosphatase, catalytic|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1225.33	33	chr7	47415145	.	A	G	1225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.073;DP=748;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.501;SOR=0.669	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1239,0,1556	18	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,52:106:99:.:.:597,0,695:.	4	0	15	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,22:112:7:0|1:48103308_C_G:7,0,2793:48103308	6	0	12	1
chr7	67279892	67279894	GAG	-	exonic	SPDYE21	.	nonframeshift deletion	SPDYE21:NM_001382715:exon2:c.235_237del:p.E81del	.	445	1072	4	1	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	.	.	.	.	.	.	.	.	0.0028431	74	26028	rs555977902	0.0077	0.0076	0.0077	0.0078	0.0079	0.0076	0.0076	0.0078	0.0077	0.0010	0.0048	0.0547	0	0.0006	0.0038	0.0079	0.0084	0.0015	0.0059	0.0058	0.0060	0.0057	0.0076	0.0055	0.0054	0.0070	0.0068	0.0014	0	0.0072	0.0505	0.0002	9.502e-05	0.0068	0.0076	0.0087	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	5856.39	36	chr7	67279891	.	TGAG	T	5856.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.472;DP=834;ExcessHet=0.7564;FS=5.489;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=49.99;MQRankSum=4.01;QD=20.77;ReadPosRankSum=-0.628;SOR=0.796	GT:AD:DP:GQ:PL	0/1:38,37:75:99:1414,0,1484	15	0	4	0
chr7	73597220	73597220	C	T	exonic	MLXIPL	.	nonsynonymous SNV	MLXIPL:NM_032951:exon9:c.G1565A:p.G522E,MLXIPL:NM_032952:exon9:c.G1565A:p.G522E,MLXIPL:NM_032953:exon9:c.G1565A:p.G522E,MLXIPL:NM_032954:exon9:c.G1565A:p.G522E	.	403	1105	13	1	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0120396662747	.	.	0.0009	0	0.0005	0	0	0.0013	0.0043	0.0004	0.0004398	68	154602	rs202093717	0.0005	0.0005	0.0005	0.0005	0.0094	0.0005	0.0004	0.0071	0.0063	0.0002	0.0003	0.0071	0	5.927e-05	0.0094	0.0003	0.0014	0.0003	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0005	0.0004	0	0	0.0009	0.0084	0	0	0.0136	0.0004	0.0009	0.0004	0.095	0.31383	T	0.272	0.22223	T	0.403	0.39078	B	0.172	0.35394	B	0.082082	0.02365	N	1.906970	1	0.08975	N	1.95	0.52479	M	2.56	0.21473	T	-1.5	0.39119	N	0.274	0.36569	-1.0505	0.14258	T	0.040	0.17362	T	10	0.005509317	0.00122	T	0.01204	0.30251	T	0.094	0.27141	.	.	0.168254554758	0.16434	0.29255624909851363	0.29168	0.150283844389	0.16954	0.575063109398	0.49392	T	0.13656	0.46901	T	-0.371447	0.03521	T	-0.435075	0.29360	T	0.0142620983062781	0.00283	T	0.751425	0.37818	T	0.08475142	0.19631	0.11083388	0.26729	0.08475142	0.19631	0.11083388	0.26729	-5.854	0.45042	T	.	.	0.142	0.38800	B	.;.;.;.;.	.;.;.;.;.	1.137430	0.15243	11.70	0.90574960269996241	0.19829	0.29722	0.23896	N	AEFDBCI	0.193813	0.32092	N	-0.516233237319284	0.21555	1.144794	-0.530262133803652	0.21333	1.153546	0.0382562331435024	0.14338	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.24	3.34	0.37357	1.229000	0.32202	0.217000	0.16029	0.515000	0.23462	0.017000	0.19353	0.006000	0.19429	0.026000	0.12556	0.0:0.8736:0.0:0.1264	7.068	0.24340	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	0.009424	0.000000	0.010989	0.033133	0.000000	0.000000	0.000000	0.003906	0.02632	1393.33	37	chr7	73597220	.	C	T	1393.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=859;ExcessHet=0;FS=4.244;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=1.07;SOR=0.409	GT:AD:DP:GQ:PL	0/1:75,56:131:99:1407,0,1934	18	0	1	0
chr7	74065699	74065699	C	T	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001278913:exon26:c.C1756T:p.P586S,ELN:NM_001278918:exon26:c.C1732T:p.P578S,ELN:NM_001278916:exon27:c.C1855T:p.P619S,ELN:NM_001081752:exon28:c.C1912T:p.P638S,ELN:NM_001278914:exon28:c.C1927T:p.P643S,ELN:NM_001081753:exon29:c.C1957T:p.P653S,ELN:NM_001081755:exon29:c.C1942T:p.P648S,ELN:NM_001278917:exon29:c.C1969T:p.P657S,ELN:NM_000501:exon30:c.C1999T:p.P667S,ELN:NM_001081754:exon30:c.C2014T:p.P672S,ELN:NM_001278912:exon30:c.C1999T:p.P667S,ELN:NM_001278915:exon30:c.C2017T:p.P673S,ELN:NM_001278939:exon31:c.C2185T:p.P729S	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	209939	Cutis_laxa,_autosomal_dominant_1|Supravalvar_aortic_stenosis|not_provided|ELN-related_disorder	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700,Orphanet:90348|Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.0392740487171	0.0002	.	0.0004	0	0.0005	0	0	0.0006	0.0022	0.0004	0.0003816	59	154602	rs142316834	0.0003	0.0003	0.0003	0.0004	0.0149	0.0003	0.0003	0.0124	0.0114	0.0008	0.0004	0.0005	0	0	0.0149	0.0002	0.0007	0.0006	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0005	0.0012	0	0	0.0340	0.0004	0.0033	0	0.0	0.91255	D	0.686	0.10103	T	0.0	0.02946	B	0.0	0.04355	B	.	.	.	.	0.999986	0.21461	N	-1.355	0.00654	N	1.72	0.26737	T	-0.2	0.15379	N	0.136	0.25989	-1.0049	0.28487	T	0.032	0.13898	T	8	0.01839146	0.00400	T	0.039274	0.58716	D	0.024	0.04979	.	.	0.259761712551	0.25597	0.21294015634475763	0.21210	0.184162317437	0.20708	0.454787969589	0.32598	T	0.068021	0.42065	T	-0.530821	0.00380	T	-0.653092	0.08739	T	0.0169525465095239	0.00446	T	0.406259	0.10435	T	0.038488485	0.05137	0.09521248	0.22572	0.04120068	0.06023	0.08275501	0.18913	-0.263	0.00767	T	.	.	0.047	0.13080	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.201796	0.15941	12.21	0.61579949094420083	0.06744	0.02928	0.07742	N	AEFDBHCI	0.041446	0.06300	N	-1.02883308133424	0.08009	0.3740487	-1.03257217586282	0.09074	0.449437	0.456977597990576	0.20590	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	3.43	-0.672	0.10805	-0.087000	0.11181	0.034000	0.13773	-0.225000	0.07834	0.130000	0.23345	0.874000	0.27626	0.001000	0.02609	0.0:0.2291:0.2006:0.5703	3.464	0.07111	900	0.24599	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.010070	0.010101	0.009511	0.023392	0.000000	0.017241	0.000000	0.003788	0.02632	1198.33	36	chr7	74065699	.	C	T	1198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.794;SOR=0.73	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1212,0,1105	18	0	1	0
chr7	74909585	74909585	G	A	exonic	SPDYE12P	.	nonsynonymous SNV	SPDYE12P:NM_001382555:exon5:c.C431T:p.A144V	.	492	1028	2	0	0	2	0.000971817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs587664649	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0010	0.0009	9.294e-05	0.0006	0.0029	2.54e-05	0	0.0015	5.441e-05	0.0005	0.0012	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	7.268e-05	0	0.0011	0.0023	0	0	0	8.901e-05	0.0005	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	.	.	.	.	.	.	.	.	0.02632	742.33	34	chr7	74909585	.	G	A	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=717;ExcessHet=0;FS=1.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.92;MQRankSum=-0.373;QD=10.31;ReadPosRankSum=0.391;SOR=1.013	GT:AD:DP:GQ:PL	0/1:43,29:72:99:756,0,1125	18	0	1	0
chr7	75501625	75501625	A	G	exonic	SPDYE5	.	nonsynonymous SNV	SPDYE5:NM_001306141:exon6:c.A1019G:p.Q340R	.	.	.	.	.	.	.	.	.	.	.	3326735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	7.447e-05	0	8.652e-05	0	0	0.0001	0	0	6.47e-05	10	154602	rs200876292	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0001	0.0016	0.0012	0.0004	0.0007	0.0017	0	0	0.0026	8.726e-05	0.0006	0.0002	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0010	0.0009	0.0004	0	0.0015	0.0026	0	0	0	0.0002	0.0009	0	.	.	.	0.284	0.21411	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	0.32812	.	.	.	.	.	.	.	0.024536192	0.00678	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.191773842267067	0.19095	.	.	0.508211612701	0.39971	T	.	.	.	-0.404707	0.02156	T	-0.45036	0.27656	T	.	.	.	0.316968	0.06317	T	0.10685099	0.25266	0.15039565	0.35470	0.10685099	0.25265	0.15039565	0.35470	-7.343	0.56501	T	.	.	0.129	0.27672	B	.;.;.	.;.;.	-0.007682	0.04228	1.040	0.20342970817872341	0.00727	0.00479	0.02286	N	AEFI	.	.	.	.	.	.	.	.	.	8.77624057610332E-6	0.01202	0.162113	0.03585	0	0.077846	0.01938	0	0.175069	0.04249	0	0.089874	0.02613	0	0.0818509	0.18730	.	.	.	0.454000	0.21539	-0.219000	0.10781	0.257000	0.18371	0.031000	0.20493	0.006000	0.19429	0.009000	0.08673	.	.	.	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	0.003175	0.015152	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	2890.33	41	chr7	75501625	.	A	G	2890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.568;DP=1302;ExcessHet=0;FS=0.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.74;MQRankSum=2.58;QD=10.04;ReadPosRankSum=2.04;SOR=0.778	GT:AD:DP:GQ:PL	0/1:163,125:288:99:2904,0,4017	18	0	1	0
chr7	75501736	75501736	C	T	exonic	SPDYE5	.	nonsynonymous SNV	SPDYE5:NM_001306141:exon6:c.C1130T:p.S377F	.	.	.	.	.	.	.	.	.	.	.	2207734	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0010	0	0	0.0004	0.0033	0	0.0003105	48	154602	rs201900151	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0.0005	0.0008	0.0021	0	1.872e-05	0.0028	0.0001	0.0007	0.0003	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0012	0.0010	0.0004	0	0.0017	0.0026	0	0	0	0.0003	0.0009	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.35194	.	.	.	.	.	.	.	0.025426328	0.00737	T	.	.	.	.	.	.	.	0.347217280506	0.34334	0.14920521989408808	0.14842	.	.	0.601694464684	0.53143	T	.	.	.	-0.277505	0.10934	T	-0.234773	0.51307	T	.	.	.	0.632737	0.24712	T	0.062384482	0.13023	0.0856463	0.19788	0.062384482	0.13023	0.0856463	0.19788	-10.685	0.77902	D	.	.	0.466	0.64389	A	.;.;.	.;.;.	2.387778	0.30663	18.50	0.7607436025071469	0.11323	0.00216	0.01224	N	AEFI	.	.	.	.	.	.	.	.	.	9.98266008568994E-6	0.01202	0.099367	0.02607	0	0.077846	0.01938	0	0.083675	0.02720	0	0.117559	0.03655	0	0.0481801	0.07606	1.58	-0.983	0.09738	0.526000	0.22680	1.031000	0.23480	0.197000	0.17898	0.056000	0.21631	0.001000	0.17328	0.038000	0.14061	0.3423:0.4068:0.0:0.2508	1.639	0.02582	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	0.004233	0.020202	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1910.33	41	chr7	75501736	.	C	T	1910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.42;DP=1232;ExcessHet=0;FS=2.166;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.35;MQRankSum=-1.516;QD=13.45;ReadPosRankSum=1.05;SOR=0.898	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1924,0,2042	18	0	1	0
chr7	76261375	76261375	G	A	exonic	SRRM3	.	nonsynonymous SNV	SRRM3:NM_001110199:exon7:c.G599A:p.R200H,SRRM3:NM_001291831:exon7:c.G599A:p.R200H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0038763935712	.	.	6.14e-05	0	0	0	0	5.407e-05	0	0.0002	2.59e-05	4	154602	rs782795402	2.135e-05	2.463e-05	1.916e-05	2.356e-05	0.0005	1.53e-05	1.333e-05	0.0001	7.568e-05	0	0	0	0	0	0.0005	1.806e-05	0	9.443e-05	7.454e-06	7.13e-06	0	1.576e-05	1.524e-05	0	0	.	.	0	0	0	0	0	0	0	1.524e-05	0	0	.	.	.	0.191	0.28391	T	.	.	.	.	.	.	0.005737	0.32555	N	0.129279	0.664438	0.33083	D	.	.	.	.	.	.	.	.	.	0.405	0.44570	-0.9945	0.31432	T	0.009	0.03054	T	10	0.14632878	0.27745	T	0.003876	0.09086	T	.	.	.	.	0.043077524339	0.03247	0.08846898128194174	0.08779	.	.	0.545044124126	0.45158	T	.	.	.	-0.026546	0.47917	T	-0.275908	0.47222	T	0.530292570590973	0.33745	D	0.714229	0.32652	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.36033	B	.	.	4.000054	0.58929	24.0	0.99727862160393055	0.82549	0.84031	0.43118	D	AEFDBI	0.526782	0.54899	D	-0.00512003617770868	0.41622	2.492971	0.155161173600322	0.47416	2.972155	0.997651043785158	0.35867	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.26	4.36	0.51643	3.960000	0.56459	9.769000	0.81545	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	0.0903:0.0:0.9097:0.0	10.615	0.44635	735	0.53711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	498.33	41	chr7	76261375	.	G	A	498.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=-1.166;SOR=0.64	GT:AD:DP:GQ:PL	0/1:46,20:66:99:512,0,1195	18	0	1	0
chr7	80478989	80478989	G	A	exonic	GNAT3	.	stopgain	GNAT3:NM_001102386:exon4:c.C313T:p.R105X	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0002	0.0003	0	0.0005	0	0.0002	0	6.758e-05	0.0001164	18	154602	rs200422530	5.018e-05	5.062e-05	3.691e-05	6.36e-05	0.0005	4.078e-05	3.752e-05	0.0002	0.0002	3.011e-05	0	0	0.0004	0	0.0005	4.51e-05	3.328e-05	3.525e-05	4.605e-05	4.598e-05	5.143e-05	4.041e-05	0.0002	2.111e-05	1.528e-05	1.972e-05	1.125e-05	2.416e-05	0	0	0	0.0002	0	0	5.882e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.155700	0.17823	U	0.545369	1	0.81001	N	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162318	0.70415	D	0.274817	0.86841	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.541004	0.96621	36	0.99186394124828658	0.54848	0.22177	0.21658	N	AEFDGBHCI	0.125399	0.24188	N	0.0858296356303696	0.45802	2.830729	-0.268663713100744	0.29136	1.63003	0.999999979645288	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.633917	0.49826	0	.	.	4.82	-0.122	0.12871	0.636000	0.24333	1.179000	0.24681	-0.148000	0.12190	0.000000	0.06391	0.001000	0.17328	0.818000	0.38543	0.0:0.203:0.4424:0.3546	8.399	0.31733	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1222.33	35	chr7	80478989	.	G	A	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.235;DP=714;ExcessHet=0;FS=1.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.11;SOR=0.473	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1236,0,1117	18	0	1	0
chr7	80674068	80674068	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon10:c.T1223C:p.I408T,CD36:NM_001371080:exon11:c.T875C:p.I292T,CD36:NM_001127444:exon12:c.T1340C:p.I447T,CD36:NM_001289909:exon12:c.T1160C:p.I387T,CD36:NM_001289911:exon12:c.T1112C:p.I371T,CD36:NM_001127443:exon13:c.T1340C:p.I447T,CD36:NM_000072:exon14:c.T1340C:p.I447T,CD36:NM_001001547:exon14:c.T1340C:p.I447T,CD36:NM_001001548:exon14:c.T1340C:p.I447T,CD36:NM_001371074:exon14:c.T1340C:p.I447T,CD36:NM_001371075:exon14:c.T1340C:p.I447T,CD36:NM_001371077:exon14:c.T1340C:p.I447T,CD36:NM_001371078:exon14:c.T1340C:p.I447T,CD36:NM_001371079:exon14:c.T1238C:p.I413T,CD36:NM_001371081:exon14:c.T875C:p.I292T	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0128448116811	.	.	8.482e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs751164081	0	6.849e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.35726	T	0.368	0.45961	T	0.002	0.09854	B	0.007	0.12992	B	0.831605	0.09101	N	0.930341	1	0.08975	N	1.735	0.44892	L	-0.65	0.72237	T	-2.1	0.50012	N	0.081	0.14763	-0.7991	0.55197	T	0.299	0.66998	T	9	0.108909905	0.20295	T	0.012845	0.31760	T	0.209	0.49871	0.501	0.59304	0.301455362545	0.29754	0.7503614139139723	0.74983	3.66727572043E-4	0.00038	0.393968701363	0.24227	T	0.147103	0.48503	T	-0.0681944	0.41614	T	-0.335733	0.40826	T	0.120847053825855	0.14512	T	0.675632	0.28664	T	0.0584413	0.11757	0.07565062	0.16678	0.0584413	0.11756	0.07565062	0.16678	-4.668	0.34039	T	0.07566096464035185	0.03389	0.129	0.31355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.531888	0.09008	5.788	0.93130191544615704	0.22770	0.10590	0.16054	N	AEFGCI	0.113178	0.22341	N	-0.576903094426341	0.19647	1.029943	-0.570190002599607	0.20272	1.091433	0.506391076870093	0.20984	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	3.4	0.38031	-0.530000	0.06266	-3.215000	0.02964	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1265:0.2116:0.0:0.6619	4.934	0.13281	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	236.83	35	chr7	80674068	.	T	C	236.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.136;DP=1112;ExcessHet=0.119;FS=109.215;InbreedingCoeff=-0.0557;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.09;SOR=9.419	GT:AD:DP:GQ:PL	0/1:135,44:179:99:218,0,2824	17	0	2	0
chr7	89336887	89336887	C	G	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon4:c.C3905G:p.P1302R	.	.	.	.	.	.	.	.	.	.	.	3945566	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.223	0.00611345966053	.	.	4.119e-05	0	0	0	0	5.994e-05	0	6.057e-05	3.88e-05	6	154602	rs751245503	1.915e-05	1.915e-05	1.77e-05	2.063e-05	0.0019	1.328e-05	1.144e-05	0.0011	0.0008	2.987e-05	4.472e-05	0	0	0	0.0019	8.993e-06	4.967e-05	1.159e-05	2.63e-05	2.627e-05	2.57e-05	2.691e-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	0.002	0.72154	D	0.055	0.65728	T	0.999	0.77913	D	0.916	0.65201	D	0.000309	0.45977	D	0.097154	0.999275	0.46519	D	2.36	0.67893	M	3.4	0.05642	T	-2.88	0.60507	D	0.808	0.80375	-1.2272	0.00035	T	0.053	0.22462	T	10	0.2948339	0.47054	T	0.006113	0.15993	T	0.223	0.52023	0.34	0.33141	0.392395365052	0.38849	0.4594883295027365	0.45866	0.263660577288	0.28920	0.367803514004	0.20516	T	0.020053	0.15857	T	0.0331039	0.56136	T	-0.00992903	0.69690	D	0.8000248670578	0.46355	D	0.765223	0.39255	T	0.43791628	0.63268	0.42006648	0.65981	0.43791628	0.63268	0.42006648	0.65981	-7.205	0.55517	T	.	.	0.183	0.39782	B	.;.	.;.	4.469377	0.69627	25.4	0.99853948058490505	0.93279	0.99275	0.93809	D	AEFI	0.585295	0.58377	D	0.722232946797895	0.81089	7.441425	0.721470354611192	0.84008	8.174139	0.99999887335074	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	3.295000	0.51501	7.493000	0.59393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.381	0.94526	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3133.33	45	chr7	89336887	.	C	G	3133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.587;DP=1014;ExcessHet=0;FS=0.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.05;SOR=0.728	GT:AD:DP:GQ:PL	0/1:133,125:258:99:3147,0,3613	18	0	1	0
chr7	97990042	97990042	A	C	splicing	OCM2	NM_006188:exon1:c.61+2T>G	.	.	.	434	1084	4	0	0	4	0.00184162	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390112627	6.19e-06	0.0002	4.647e-06	7.73e-06	1.213e-05	2.66e-06	1.92e-06	2.19e-06	1.44e-06	0	0	0	0	2.223e-05	0	6.09e-06	0	1.213e-05	5.624e-05	0.0005	7.667e-05	3.375e-05	0.0002	2.634e-05	1.799e-05	3.139e-05	1.297e-05	3.124e-05	0	0.0002	0	0	0.0004	0	1.658e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186975	0.72684	D	0.0308008	0.72330	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.670646	0.74647	26.2	0.98603581146955932	0.43546	0.95746	0.65978	D	AEFGBI	.	.	.	0.845182211011962	0.88832	9.729144	0.616035010124485	0.76103	6.429953	0.00823670763233826	0.11637	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.784209	0.46363	3.49	3.49	0.39065	6.048000	0.70674	11.017000	0.84915	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	1.0:0.0:0.0:0.0	10.139	0.41900	663	0.61610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	299.66	49	chr7	97990042	.	A	C	299.66	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.512;DP=1913;ExcessHet=0.119;FS=185.691;InbreedingCoeff=-0.0954;MLEAC=2;MLEAF=0.056;MQ=59.84;MQRankSum=0.493;QD=1.1;ReadPosRankSum=3.92;SOR=8.086	GT:AD:DP:GQ:PL	0/1:103,23:126:86:86,0,2455	16	0	2	1
chr7	98229116	98229116	C	T	exonic	TECPR1	.	nonsynonymous SNV	TECPR1:NM_015395:exon16:c.G2333A:p.R778Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00403952473499	8.3e-05	.	0.0001	0.0004	0	0.0008	0	7.275e-05	0	0	3.23e-05	5	154602	rs375317554	1.128e-05	1.3e-05	1.395e-05	8.549e-06	0.0002	6.68e-06	5.4e-06	2.098e-05	1.081e-05	0	7.914e-05	0	5.417e-05	0	0.0002	5.5e-06	3.4e-05	2.479e-05	7.884e-05	7.88e-05	2.569e-05	0.0001	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.381	0.11156	T	0.345	0.17750	T	0.02	0.18235	B	0.002	0.06944	B	0.870571	0.07173	N	1.059090	1	0.08975	N	1.245	0.31408	L	1.55	0.29866	T	-0.42	0.14193	N	0.161	0.16864	-0.9808	0.34817	T	0.054	0.22846	T	10	0.025984108	0.00777	T	0.00404	0.09618	T	0.073	0.21317	.	.	0.199424873507	0.19547	0.33744716363924704	0.33657	0.267066220627	0.29244	0.208299353719	0.00741	T	0.010809	0.09719	T	-0.51198	0.00489	T	-0.708772	0.05358	T	0.00669787369648886	0.00075	T	0.812919	0.46506	T	0.035172272	0.04089	0.03855092	0.03748	0.035172272	0.04089	0.03855092	0.03747	-2.879	0.08935	T	.	.	0.069	0.03128	B	.	.	1.271973	0.16708	12.71	0.87182909972078593	0.17046	0.06397	0.12400	N	AEFBI	0.076454	0.15381	N	-1.43967033454295	0.02299	0.1013707	-1.44795094823646	0.02789	0.1289079	0.929660194896987	0.26977	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.13	-3.41	0.04535	0.246000	0.17935	0.332000	0.17294	-0.888000	0.02403	0.014000	0.18986	0.027000	0.21108	0.622000	0.31948	0.0:0.3637:0.0:0.6363	12.563	0.55643	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	.	.	.	.	.	.	.	.	0.02632	228.33	34	chr7	98229116	.	C	T	228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=652;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.01;ReadPosRankSum=0;SOR=0.782	GT:AD:DP:GQ:PL	0/1:27,11:38:99:242,0,659	18	0	1	0
chr7	100101724	100101724	C	T	exonic	AP4M1	.	stopgain	AP4M1:NM_001363671:exon1:c.C10T:p.Q4X,AP4M1:NM_004722:exon1:c.C10T:p.Q4X	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	969526	not_provided|Intellectual_disability|Hereditary_spastic_paraplegia_50	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0013048,MedGen:C2752008,OMIM:612936,Orphanet:280763	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.302e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs777220438	1.38e-06	1.368e-06	0	2.775e-06	1.813e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.813e-06	0	0	6.671e-06	6.643e-06	0	1.367e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.211	0.23506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607262	0.97712	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.	.;High;.;.;.	8.889303	0.98165	39	0.99718634946466578	0.81843	0.98209	0.80557	D	AEFGBHCIJ	0.095821	0.19354	N	1.11527282582097	0.98407	18.19328	0.975376426345719	0.98091	17.40822	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.68	5.68	0.88021	5.300000	0.65515	7.558000	0.60417	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.266	0.86973	197	0.92378	.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	277.33	33	chr7	100101724	.	C	T	277.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.383;DP=691;ExcessHet=0;FS=2.617;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=2.05;SOR=0.368	GT:AD:DP:GQ:PL	0/1:48,14:62:99:291,0,1361	18	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,48:103:99:0|1:100175805_G_C:1280,0,1816:100175805	1	0	18	0
chr7	100431162	100431162	G	A	exonic	MEPCE	.	nonsynonymous SNV	MEPCE:NM_019606:exon1:c.G1144A:p.G382S	.	280	1241	1	0	0	1	0.000402739	.	.	.	2345747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0103435699168	7.7e-05	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001358	21	154602	rs146630304	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0007	0.0006	0	2.236e-05	0.0003	7.557e-05	0	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0001	0.0002	0.0004	9.746e-05	8.26e-05	0.0002	0.0001	0	0	0.0001	0	0	0	0	0.0003	0	0.0004	0.192	0.20988	T	0.36	0.16964	T	0.079	0.24468	B	0.07	0.27859	B	0.002699	0.36102	N	0.275216	0.653019	0.81001	D	0.895	0.22405	L	.	.	.	0.06	0.06253	N	0.208	0.23125	-0.8893	0.48995	T	0.141	0.46128	T	9	0.028870493	0.01016	T	0.010344	0.26763	T	0.094	0.27141	.	.	0.239312915715	0.23560	0.30913477058682204	0.30826	1.48319628752	0.86751	0.551497280598	0.46069	T	0.017663	0.14371	T	-0.347772	0.04869	T	-0.366242	0.37329	T	0.0419062860445368	0.04037	T	0.790621	0.43132	T	0.12492731	0.29298	0.11807647	0.28504	0.12492731	0.29298	0.11807647	0.28503	-4.9	0.35735	T	.	.	0.085	0.10062	B	.	.	4.071532	0.60497	24.2	0.99676276403883701	0.78912	0.93603	0.58670	D	AEFDBHCI	0.494458	0.53024	N	-0.138631219786639	0.35721	2.055324	0.0378494814215495	0.41489	2.493374	0.999999960484983	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.83	4.83	0.61880	1.778000	0.38244	11.794000	0.96459	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	13.282	0.59652	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003049	0.000000	0.02632	1848.33	38	chr7	100431162	.	G	A	1848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=766;ExcessHet=0;FS=3.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=1.13;SOR=0.918	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1862,0,1308	18	0	1	0
chr7	100488853	100488853	C	T	exonic	NYAP1	.	nonsynonymous SNV	NYAP1:NM_173564:exon4:c.C1132T:p.R378W	.	416	1105	1	0	0	1	0.000452284	.	.	.	3362847	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0502588982414	7.7e-05	.	0.0002	0	0	0	0	0.0001	0	0.0012	0.0001488	23	154602	rs139880279	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0007	0.0006	0	2.404e-05	0.0003	0.0001	0	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.724e-05	0.0002	0.0002	2.414e-05	0	6.544e-05	0	0	0	0	0.0003	0	0.0004	0.002	0.72154	D	0.019	0.59159	D	1.0	0.90584	D	0.965	0.73362	D	0.000556	0.43413	D	0.000000	0.731358	0.33722	D	1.5	0.37844	L	0.89	0.45636	T	-2.02	0.46503	N	0.448	0.49055	-0.6786	0.61437	T	0.158	0.49094	T	10	0.10060358	0.18331	T	0.050259	0.64164	D	0.086	0.25016	.	.	0.123314135267	0.11883	0.2529180615462233	0.25205	0.748255062631	0.63626	0.743867337704	0.73541	T	0.059508	0.31135	T	-0.347744	0.04870	T	-0.363836	0.37607	T	0.145935453735833	0.16775	T	0.907609	0.67324	D	0.26072678	0.49129	0.21833387	0.46532	0.26072678	0.49129	0.21833387	0.46531	-5.527	0.42120	T	.	.	0.172	0.42156	B	.;.	.;.	4.897285	0.80455	27.3	0.9990375190991263	0.97502	0.67701	0.33528	D	AEFDBCI	0.476764	0.52004	N	0.271761839937198	0.54723	3.637178	0.252453093318252	0.52788	3.451401	0.999994307871459	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.97	4.06	0.46572	3.354000	0.51970	2.840000	0.35074	0.524000	0.24156	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.1715:0.8285:0.0:0.0	12.244	0.53872	365	0.84644	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1076.33	39	chr7	100488853	.	C	T	1076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=823;ExcessHet=0;FS=4.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.018;SOR=0.805	GT:AD:DP:GQ:PL	0/1:33,37:70:99:1090,0,876	18	0	1	0
chr7	100751907	100751907	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon14:c.C1802T:p.S601F,ZAN:NM_173059:exon14:c.C1802T:p.S601F	.	416	1104	2	0	0	2	0.000904977	.	.	.	4099041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00971777960646	.	.	5.81e-05	0	0	0	0	1.503e-05	0	0.0004	4.53e-05	7	154602	rs755964658	3.011e-05	3.01e-05	2.723e-05	3.302e-05	0.0005	2.282e-05	2.033e-05	0.0002	0.0001	0	0	0	0	0	0.0005	1.529e-05	4.971e-05	0.0002	6.583e-06	6.57e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.008	0.67890	D	0.234	0.30717	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.35	0.11930	N	-0.06	0.63568	T	-1.17	0.29933	N	0.131	0.12627	-0.9862	0.33542	T	0.124	0.42715	T	9	0.051299334	0.04991	T	0.009718	0.25381	T	0.081	0.23632	0.278	0.23164	0.254761474806	0.25079	0.10251868639864947	0.10181	0.124631622322	0.14042	0.127941697836	0.00001	T	0.026752	0.19734	T	-0.227724	0.16951	T	-0.258909	0.48934	T	0.0278631171153285	0.01668	T	0.928407	0.74605	D	0.042856272	0.06577	0.069435835	0.14628	0.042856272	0.06576	0.069435835	0.14628	-7.37	0.56693	T	.	.	0.139	0.30291	B	.;.;.;.	.;.;.;.	0.885919	0.12595	9.120	0.89219915979306241	0.18611	0.03126	0.08073	N	AEFBI	0.070710	0.14048	N	-1.1709822010661	0.05443	0.2481748	-1.26542606884135	0.04906	0.2325606	1.74807150889536E-5	0.02871	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	2.68	0.774	0.17665	1.057000	0.30102	-5.841000	0.01578	-1.276000	0.01274	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2131:0.6579:0.0:0.1289	4.782	0.12576	702	0.57624	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	4477.33	33	chr7	100751907	.	C	T	4477.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.73;DP=1007;ExcessHet=0;FS=1.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0.94;QD=12.2;ReadPosRankSum=0.386;SOR=0.591	GT:AD:DP:GQ:PL	0/1:196,171:367:99:4491,0,5145	18	0	1	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	53133.8	110	chr7	100773854	.	G	*	53133.8	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.49;DP=2033;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=27;ReadPosRankSum=0.396;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,57:96:99:0|1:100773851_A_G:2201,0,1462:100773851	15	0	4	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	0/1:83,68:151:99:2604,0,3257	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,103:581:99:0|1:100952942_T_G:3079,0,17074:100952942	5	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,127:589:99:0|1:100953098_G_C:4141,0,16246:100953098	7	0	12	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:394,122:581:99:.:.:3937,0,16177:.	2	0	17	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	9134.83	488	chr7	100954094	.	A	G	9134.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-7.567;DP=6716;ExcessHet=0.119;FS=10.776;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.39;MQRankSum=18.64;QD=13.72;ReadPosRankSum=-1.064;SOR=0.737	GT:AD:DP:GQ:PL	0/1:160,124:284:99:2632,0,4886	17	0	2	0
chr7	100955170	100955170	G	0	exonic	MUC3A	.	.	.	.	487	947	75	0	13	88	0.0380904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	491.09	467	chr7	100955170	.	G	*	491.09	.	AC=4;AF=0.111;AN=36;BaseQRankSum=1.24;DP=6383;ExcessHet=2.9153;FS=17.057;InbreedingCoeff=-0.2459;MLEAC=4;MLEAF=0.111;MQ=58.69;MQRankSum=-16.33;QD=0.19;ReadPosRankSum=-1.061;SOR=2.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,45:443:99:0|1:100955170_G_T:704,0,16409:100955170	14	0	4	1
chr7	100955172	100955175	CACG	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1176	241.19	477	chr7	100955172	.	CACG	*	241.19	.	AC=4;AF=0.118;AN=34;BaseQRankSum=3.12;DP=6413;ExcessHet=2.0135;FS=24.257;InbreedingCoeff=-0.2258;MLEAC=4;MLEAF=0.118;MQ=58.75;MQRankSum=-15.03;QD=0.1;ReadPosRankSum=-1.203;SOR=3.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:398,42:444:99:0|1:100955170_G_T:566,0,16586:100955170	13	0	4	2
chr7	100955175	100955175	G	0	exonic	MUC3A	.	.	.	.	498	860	77	0	87	164	0.0428492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	671.78	473	chr7	100955175	.	G	*	671.78	.	AC=3;AF=0.083;AN=36;BaseQRankSum=2.35;DP=6379;ExcessHet=2.0135;FS=14.502;InbreedingCoeff=-0.2066;MLEAC=3;MLEAF=0.083;MQ=58.56;MQRankSum=-15.13;QD=0.29;ReadPosRankSum=-1.114;SOR=2.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,71:438:99:0|1:100955076_G_A:2003,0,13433:100955076	15	0	3	1
chr7	101000293	101000293	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A9730G:p.T3244A	.	331	1174	17	0	0	17	0.00718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0147554947816	.	.	0.0019	0	0	0	0	0.0005	0.0042	0.0046	3.84e-05	1	26028	rs767546340	5.789e-06	0.0009	2.856e-06	8.802e-06	0.0002	2.49e-06	1.8e-06	4.119e-05	2.888e-05	0	0	0	0	0	0.0002	0	0	8.97e-05	6.57e-06	0.0007	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.505	0.11004	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.81	0.10975	T	-1.17	0.29933	N	0.089	0.12913	-0.9200	0.45554	T	0.012	0.04700	T	6	0.012117922	0.00262	T	0.014755	0.35085	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.09361338531329641	0.09293	.	.	0.541573524475	0.44668	T	0.007058	0.06479	T	-0.552468	0.00282	T	-0.733799	0.04157	T	0.0482062467348094	0.05180	T	0.216578	0.02710	T	0.09819249	0.23157	0.1203934	0.29054	0.09819249	0.23157	0.1203934	0.29053	-8.066	0.61519	D	.	.	0.149	0.32898	B	.;.	.;.	0.656210	0.10244	6.983	0.27641341100792455	0.01382	0.00275	0.01491	N	AEFBI	0.022379	0.01112	N	-1.02287317704867	0.08130	0.3801577	-1.20135753606827	0.05888	0.2818667	1.16875703740527E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-0.918000	0.04130	-0.347000	0.09772	0.285000	0.18709	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	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	0.006024	0.000000	0.005051	0.007576	0.000000	0.027778	0.010417	0.010870	0.02632	3062.33	2571	chr7	101000293	.	A	G	3062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.29;DP=34008;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.55;MQRankSum=-0.705;QD=1.87;ReadPosRankSum=-0.028;SOR=0.871	GT:AD:DP:GQ:PL	0/1:1403,236:1639:99:3076,0,39653	18	0	1	0
chr7	102963598	102963598	C	T	exonic	FBXL13	.	nonsynonymous SNV	FBXL13:NM_001111038:exon8:c.G659A:p.R220H,FBXL13:NM_001287150:exon8:c.G659A:p.R220H,FBXL13:NM_145032:exon8:c.G659A:p.R220H	.	439	1053	30	0	0	30	0.0140449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	0.0018	0.0071885	0.0038	0.0004	0.0008	0.0001	0	0.0026	0	0.0170	0.0036157	559	154602	rs75323828	0.0027	0.0027	0.0023	0.0032	0.0160	0.0027	0.0026	0.0153	0.0150	0.0006	0.0009	0.0028	2.523e-05	0.0004	0.0104	0.0020	0.0032	0.0160	0.0021	0.0021	0.0020	0.0021	0.0172	0.0019	0.0018	0.0142	0.0131	0.0005	0	0.0012	0.0040	0.0002	0.0005	0	0.0024	0.0014	0.0172	0.017	0.53172	D	0.052	0.47828	T	0.046	0.37337	B	0.038	0.33005	B	0.000001	0.84330	D	0.000000	0.991942	0.41514	D	.	.	.	2.3	0.53731	T	-3.88	0.74504	D	0.343	0.38950	-0.9450	0.41814	T	0.087	0.33774	T	10	0.007834941	0.00178	T	.	.	.	0.118	0.32913	.	.	0.572760530292	0.56943	0.569052084338332	0.56833	0.19089632529	0.21403	0.327628850937	0.14577	T	0.074581	0.34972	T	-0.416755	0.01795	T	-0.358442	0.38233	T	0.0329960554409471	0.02470	T	0.863414	0.55914	D	0.27332288	0.50400	0.2027575	0.44319	0.27332288	0.50400	0.2027575	0.44318	-6.999	0.54875	T	.	.	0.163	0.38498	B	.;.;.;.;.;.	.;.;.;.;.;.	2.528354	0.32681	19.12	0.99223256273497318	0.55963	0.71514	0.35046	D	AEFBI	0.218257	0.34328	N	-0.230713984750874	0.31878	1.792063	-0.098147394599497	0.35468	2.052286	7.40947855066566E-4	0.07723	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.83	4.02	0.45968	1.351000	0.33626	0.588000	0.19789	-0.192000	0.09343	0.997000	0.40164	0.996000	0.32793	0.874000	0.41677	0.0:0.8635:0.0:0.1365	12.707	0.56435	431	0.80762	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.018939	0.02632	1159.33	34	chr7	102963598	.	C	T	1159.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.98;DP=730;ExcessHet=0;FS=7.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.505;SOR=0.544	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1173,0,1539	18	0	1	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I,RELN:NM_173054:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	5	1441	66	10	0	86	0.0289757	.	.	.	177377	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|RELN-related_disorder|not_provided|not_specified	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.004076	0.005848	0.000000	0.000000	0.012195	0.026515	0.02632	919.33	35	chr7	103557156	.	G	A	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.495;DP=679;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.95;SOR=0.947	GT:AD:DP:GQ:PL	0/1:31,33:64:99:933,0,818	18	0	1	0
chr7	105550393	105550393	A	G	exonic	RINT1	.	nonsynonymous SNV	RINT1:NM_001346603:exon6:c.A217G:p.S73G,RINT1:NM_001346599:exon9:c.A1006G:p.S336G,RINT1:NM_001346600:exon9:c.A217G:p.S73G,RINT1:NM_001346601:exon9:c.A316G:p.S106G,RINT1:NM_021930:exon9:c.A1240G:p.S414G	.	426	1092	4	0	0	4	0.00182815	.	.	.	635411	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00743295749695	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs781158188	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0002	1.99e-06	1.28e-06	.	.	0	0	0	0	0	0.0002	8.993e-07	8.279e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.182	0.29249	T	0.005	0.12996	B	0.01	0.14941	B	0.000003	0.62929	D	0.164525	0.995472	0.42708	D	1.445	0.36358	L	1.39	0.33842	T	-1.99	0.45949	N	0.321	0.36148	-1.0986	0.04265	T	0.074	0.29802	T	10	0.16542599	0.30920	T	0.007433	0.19712	T	0.068	0.19811	0.449	0.50957	0.524946584802	0.52141	0.11460219075675497	0.11388	0.175502523461	0.19754	0.491897523403	0.37702	T	0.147806	0.48606	T	-0.110449	0.34694	T	-0.396429	0.33800	T	0.314620509809982	0.25603	T	0.748825	0.36981	T	0.13607104	0.31556	0.15851541	0.37013	0.13607104	0.31556	0.15851541	0.37012	-5.633	0.43093	T	.	.	0.054	0.00328	B	.	.	2.454403	0.31607	18.79	0.99288165836840392	0.58149	0.93048	0.57195	D	AEFDGBHI	0.263570	0.38109	N	-0.124404673990201	0.36330	2.098645	0.0698101257295369	0.43040	2.614034	0.307666421144214	0.19255	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	3.077000	0.49787	6.887000	0.56830	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	1.0:0.0:0.0:0.0	15.651	0.76846	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1082.33	33	chr7	105550393	.	A	G	1082.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=749;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=0.283;SOR=0.583	GT:AD:DP:GQ:PL	0/1:84,47:131:99:1096,0,2302	18	0	1	0
chr7	127582399	127582399	G	T	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon2:c.C1943A:p.A648D	.	416	1103	3	0	0	3	0.00135808	.	.	.	2463439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0061009152296	.	.	5.767e-05	0	0	0.0008	0	0	0	0	5.17e-05	8	154602	rs369410656	1.437e-05	1.505e-05	1.089e-05	1.788e-05	0.0002	9.23e-06	7.84e-06	0.0001	8.775e-05	0	0	0	0.0002	0	0	5.396e-06	6.623e-05	2.319e-05	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.113	0.28772	T	0.347	0.17640	T	0.013	0.16609	B	0.01	0.14941	B	0.107107	0.19585	N	0.577345	0.822982	0.28858	N	0.895	0.22405	L	2.64	0.12780	T	-0.02	0.07299	N	0.25	0.28264	-0.9934	0.31722	T	0.023	0.09832	T	10	0.041832447	0.02875	T	0.006101	0.15964	T	0.035	0.08770	0.168	0.07302	0.353974658523	0.35008	0.3075566513504303	0.30668	0.447137084831	0.44575	0.429968684912	0.29205	T	0.008608	0.07893	T	-0.490316	0.00647	T	-0.599351	0.12866	T	0.0172010062683889	0.00463	T	0.810019	0.46084	T	0.12643975	0.29614	0.1427505	0.33949	0.12643975	0.29614	0.1427505	0.33948	-4.509	0.31006	T	.	.	0.17	0.37369	B	.	.	1.693580	0.21574	15.26	0.86890709060445637	0.16843	0.94370	0.60949	D	AEFDGBHCI	0.199711	0.32649	N	-0.705079941561852	0.15878	0.8041574	-0.650714094563456	0.18199	0.9711246	0.999996507909481	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.49	2.64	0.30504	1.507000	0.35365	3.886000	0.40267	0.676000	0.76740	0.965000	0.33920	1.000000	0.68203	0.016000	0.10718	0.078:0.4198:0.5022:0.0	9.237	0.36636	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1950.33	33	chr7	127582399	.	G	T	1950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.035;DP=840;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.55;SOR=0.513	GT:AD:DP:GQ:PL	0/1:75,71:146:99:1964,0,2011	18	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3462	3537.59	237	chr7	128479325	.	T	C	3537.59	.	AC=9;AF=0.346;AN=26;BaseQRankSum=2.39;DP=4144;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4618;MLEAC=11;MLEAF=0.423;MQ=57.58;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.77;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,24:228:99:0|1:128479325_T_C:374,0,8473:128479325	4	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.375	3542.4	237	chr7	128479326	.	G	C	3542.4	.	AC=9;AF=0.375;AN=24;BaseQRankSum=1.86;DP=4339;ExcessHet=5.3738;FS=36.404;InbreedingCoeff=-0.4902;MLEAC=12;MLEAF=0.5;MQ=57.62;MQRankSum=-13.85;QD=1.75;ReadPosRankSum=-3.735;SOR=5.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,24:228:99:0|1:128479325_T_C:374,0,8473:128479325	3	0	9	7
chr7	138871281	138871281	G	A	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon13:c.C4427T:p.P1476L,KIAA1549:NM_020910:exon13:c.C4427T:p.P1476L	.	415	1104	3	0	0	3	0.00135685	.	.	.	833172	Retinitis_pigmentosa_86|Retinal_dystrophy|not_provided	MONDO:MONDO:0032834,MedGen:C5231428,OMIM:618613|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.00368753040051	8.2e-05	.	0.0001	0.0001	0.0002	0	0	0.0002	0.0024	0	0.0001423	22	154602	rs201971426	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	0.0001	0.0002	0	0	0	0.0012	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0.0002	0	0	0	0	0.0002	0.0028	0	0.449	0.09022	T	0.036	0.52060	D	0.46	0.37421	P	0.035	0.26717	B	0.010718	0.29815	N	0.350714	0.968781	0.38683	D	0	0.06538	N	1.91	0.23486	T	-1.75	0.41428	N	0.312	0.36148	-1.0454	0.15709	T	0.034	0.14769	T	10	0.07976982	0.12870	T	0.003688	0.08527	T	0.098	0.28162	.	.	0.0934897674506	0.08844	0.15582828875094046	0.15503	0.135927138627	0.15326	0.312398791313	0.12269	T	0.013218	0.11472	T	-0.46998	0.00850	T	-0.616678	0.11449	T	0.0655538205398032	0.08013	T	0.715328	0.32778	T	0.042512905	0.06460	0.04673985	0.06580	0.042512905	0.06460	0.04673985	0.06580	-5.351	0.40445	T	.	.	0.074	0.09965	B	.;.	.;.	4.114729	0.61453	24.3	0.96887702793963615	0.31484	0.94216	0.60466	D	AEFDBHCI	0.812799	0.73544	D	-0.0965526349017342	0.37543	2.18574	0.0416745090939224	0.41672	2.507464	1.0	0.98316	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.16	5.16	0.70563	7.533000	0.80893	6.699000	0.56365	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:0.0:1.0:0.0	17.816	0.88545	728	0.54609	.;.	.	.	.	.	.	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1273.33	40	chr7	138871281	.	G	A	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=756;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.257;SOR=0.816	GT:AD:DP:GQ:PL	0/1:37,46:83:99:1287,0,915	18	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	2076.13	76	chr7	143478290	.	A	G	2076.13	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-3.068;DP=1751;ExcessHet=5.3738;FS=194.204;InbreedingCoeff=-0.3257;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.27;SOR=10.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:80,15:95:7:.:.:7,0,2114:.	9	0	9	1
chr7	143511171	143511171	A	C	exonic	OR10AC1	.	nonsynonymous SNV	OR10AC1:NM_001348289:exon2:c.T740G:p.L247W	.	867	652	2	1	0	4	0.0030581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0096	0	0	0	0	0	0	0.0001811	28	154602	rs555229480	0.0008	0.0006	0.0008	0.0008	0.0015	0.0007	0.0007	0.0009	0.0009	0.0003	0.0007	0	0	0.0001	0	0.0011	0.0006	0.0015	0.0006	0.0006	0.0006	0.0006	0.0023	0.0005	0.0004	0.0013	0.0010	0.0003	0	0.0002	0	0	0	0	0.0009	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1152.33	50	chr7	143511171	.	A	C	1152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.676;DP=1094;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=2.56;SOR=0.582	GT:AD:DP:GQ:PL	0/1:37,41:78:99:1166,0,984	18	0	1	0
chr7	151064872	151064872	G	A	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon4:c.G457A:p.A153T,SLC4A2:NM_001199694:exon4:c.G442A:p.A148T,SLC4A2:NM_001199692:exon5:c.G484A:p.A162T,SLC4A2:NM_003040:exon5:c.G484A:p.A162T	.	.	.	.	.	.	.	.	.	.	.	3911355	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0185803873045	0.0002	.	0.0002	0	0.0004	0	0	9.056e-05	0	0.0010	0.0001746	27	154602	rs368228324	0.0001	0.0001	8.713e-05	0.0002	0.0010	0.0001	0.0001	0.0008	0.0008	0	4.473e-05	3.827e-05	0	0	0.0002	7.104e-05	0.0001	0.0010	7.229e-05	7.223e-05	3.854e-05	0.0001	0.0010	3.972e-05	3.128e-05	0.0004	0.0003	0	0	6.543e-05	0	0	0	0	7.352e-05	0	0.0010	0.331	0.13088	T	0.82	0.06511	T	0.0	0.02946	B	0.0	0.01387	B	0.080011	0.02344	N	1.831260	1	0.08975	N	-0.715	0.01801	N	-0.9	0.74896	T	-0.24	0.11366	N	0.06	0.05162	-0.9413	0.42410	T	0.127	0.43462	T	10	0.0099212825	0.00222	T	0.01858	0.40690	T	0.059	0.16972	.	.	0.372852800391	0.36900	0.20824489460242376	0.20740	0.479168406073	0.46961	0.376864790916	0.21811	T	0.051935	0.29019	T	-0.538092	0.00344	T	-0.602056	0.12640	T	0.0290563501590042	0.01845	T	0.680832	0.30971	T	0.02648569	0.01711	0.030836342	0.01590	0.02648569	0.01711	0.030836342	0.01589	-4.381	0.29298	T	.	.	0.064	0.03479	B	.;.;.;.;.	.;.;.;.;.	-0.805420	0.01096	0.049	0.65315906465054685	0.07738	0.10049	0.15661	N	AEFBHCI	0.054374	0.09882	N	-1.94077770114123	0.00283	0.01212639	-1.98597175978688	0.00328	0.01447297	0.999999999998875	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.24	-9.67	0.00444	-2.097000	0.01436	-2.539000	0.03632	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.634000	0.32262	0.574:0.1845:0.2415:0.0	9.370	0.37412	878	0.29785	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	989.33	36	chr7	151064872	.	G	A	989.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=735;ExcessHet=0;FS=4.861;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.967;SOR=1.341	GT:AD:DP:GQ:PL	0/1:31,37:68:99:1003,0,772	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:261,74:335:99:1022,0,7920	1	0	18	0
chr7	152265205	152265205	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.G1017C:p.K339N	.	421	1051	50	0	0	50	0.0232342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	.	.	.	0.0021	0.0111	0.0007	0.0018	0.0005	0.0010	0	0.0035	0.0006147	16	26028	rs775803041	5.981e-05	0.0076	4.535e-05	7.442e-05	0.0003	4.937e-05	4.544e-05	0.0002	0.0001	0.0003	9.457e-05	4.025e-05	0.0002	3.892e-05	0	3.535e-05	5.168e-05	0.0002	3.333e-05	0.0021	1.302e-05	5.465e-05	0.0002	1.275e-05	8.08e-06	8.19e-06	3.07e-06	4.945e-05	0	0	0	0	0	0	1.482e-05	0.0005	0.0002	0.246	0.17353	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	0.000576	0.43250	U	0.000000	0.938391	0.37224	D	1.445	0.36358	L	-5.16	0.98796	D	-2.17	0.49018	N	0.586	0.60664	0.881	0.95424	D	0.928	0.97621	D	10	0.022789448	0.00578	T	.	.	.	0.572	0.82629	0.4	0.42917	0.863302321749	0.86197	0.9070440576430164	0.90677	3.14057088863	0.99419	0.771010279655	0.77576	T	0.079823	0.36220	T	0.0848077	0.62599	D	-0.115956	0.62133	T	0.085914246737957	0.10725	T	0.856014	0.54441	D	0.14069383	0.32450	0.13352853	0.32017	0.14069383	0.32450	0.13352853	0.32016	-7.908	0.60442	D	0.7078248139639416	0.78764	0.700	0.72955	P	.;.	.;.	4.007063	0.59081	24.1	0.98560692262797078	0.42973	0.86679	0.46011	D	AEFDGI	0.317148	0.42122	N	-0.0667300470696601	0.38857	2.282421	-0.115006256874915	0.34785	2.004846	0.502645286987131	0.20955	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	3.77	0.42499	1.960000	0.40046	3.951000	0.40674	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.8451:0.0:0.1549	11.249	0.48247	952	0.10565	.;.	.	.	.	.	.	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	0.018652	0.007937	0.019284	0.026316	0.071429	0.008772	0.018657	0.017241	0.07895	210.79	184	chr7	152265205	.	C	G	210.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.079;DP=3675;ExcessHet=0.3672;FS=1.96;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.16;MQRankSum=-5.69;QD=0.25;ReadPosRankSum=-2.272;SOR=1.05	GT:AD:DP:GQ:PL	0/1:261,34:295:92:92,0,7304	16	0	3	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10774.2	70	chr8	10609944	.	A	G	10774.2	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-5.582;DP=4163;ExcessHet=4.0268;FS=203.216;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.08;SOR=12.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,87:239:99:0|1:10609943_C_T:2037,0,5190:10609943	6	0	8	5
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	.	.	.	.	.	.	.	.	0.1562	19088.4	307	chr8	10609948	.	C	T	19088.4	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,66:232:99:.:.:1908,0,5115:.	11	0	5	3
chr8	17548830	17548830	T	C	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon4:c.T685C:p.S229P,SLC7A2:NM_001164771:exon4:c.T805C:p.S269P,SLC7A2:NM_003046:exon4:c.T805C:p.S269P,SLC7A2:NM_001370337:exon5:c.T685C:p.S229P,SLC7A2:NM_001370338:exon5:c.T685C:p.S229P	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.0674514413212	0.0006	0.000998403	0.0007	0.0002	0.0010	0	0	0.0009	0.0033	0.0004	0.0007697	119	154602	rs142593316	0.0008	0.0008	0.0007	0.0008	0.0012	0.0007	0.0007	0.0008	0.0008	0.0001	0.0007	0	0	9.368e-05	0.0012	0.0009	0.0006	0.0006	0.0007	0.0007	0.0008	0.0007	0.0010	0.0006	0.0006	0.0008	0.0007	0.0002	0.0242	0.0003	0	0	0	0	0.0010	0.0015	0.0004	0.065	0.36310	T	0.131	0.40426	T	0.86	0.47373	P	0.723	0.54990	P	0.000038	0.55875	D	0.163697	0.95446	0.39038	D	0.175	0.09039	N	-2.25	0.88533	D	-2.53	0.54864	D	0.375	0.48963	0.146	0.84994	D	0.525	0.82317	D	10	0.00931859	0.00210	T	0.067451	0.70170	D	0.470	0.76421	.	.	0.927616338111	0.92687	0.9336598454785273	0.93344	0.0530379128989	0.05844	0.474536120892	0.35306	T	0.69194	0.91051	D	-0.204202	0.20200	T	-0.106632	0.62879	T	0.0391192576249898	0.03532	T	0.69713	0.30670	T	0.3886082	0.59932	0.44458023	0.67635	0.3886082	0.59933	0.44458023	0.67635	-7.834	0.60050	D	.	.	0.17	0.42229	B	.;.;.;.;.;.	.;.;.;.;.;.	4.674805	0.74743	26.2	0.99402349456728767	0.62887	0.96542	0.69661	D	AEFBI	0.670812	0.63777	D	0.101832542738835	0.46547	2.893472	0.205755902600695	0.50167	3.211579	0.992764994151556	0.32960	0.732398	0.92422	0	0.573888	0.26702	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	4.68	4.68	0.58319	2.017000	0.40600	7.886000	0.72778	0.665000	0.62972	0.972000	0.34453	1.000000	0.68203	0.998000	0.85391	0.2055:0.0:0.0:0.7945	10.604	0.44572	845	0.36510	.;.;.;.;.;.	.	.	.	.	.	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	0.003024	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1758.33	42	chr8	17548830	.	T	C	1758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.694;DP=1066;ExcessHet=0;FS=1.004;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=-1.188;SOR=0.972	GT:AD:DP:GQ:PL	0/1:34,61:95:99:1772,0,834	18	0	1	0
chr8	18867977	18867977	T	C	exonic	PSD3	.	nonsynonymous SNV	PSD3:NM_001362819:exon3:c.A1232G:p.Q411R,PSD3:NM_015310:exon4:c.A1331G:p.Q444R	.	430	1081	9	2	0	13	0.00597701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	0.0007	0.00179712	0.0020	0.0001	0.0018	0	0	0.0016	0.0078	0.0062	0.0017464	270	154602	rs189888746	0.0012	0.0012	0.0010	0.0013	0.0080	0.0011	0.0011	0.0061	0.0055	0.0007	0.0014	7.652e-05	0	1.872e-05	0.0080	0.0009	0.0021	0.0055	0.0011	0.0011	0.0010	0.0011	0.0066	0.0010	0.0009	0.0048	0.0042	0.0005	0	0.0016	0	0	0	0	0.0012	0.0043	0.0066	0.008	0.58626	D	0.301	0.20293	T	.	.	.	.	.	.	0.000416	0.44736	D	0.095008	0.95744	0.38024	D	1.625	0.41611	L	2.8	0.11189	T	-1.33	0.33197	N	0.893	0.89242	-1.1158	0.02615	T	0.037	0.16160	T	10	0.013253927	0.00282	T	.	.	.	0.155	0.40530	.	.	0.580280631899	0.57699	0.21215563428241743	0.21131	0.166028493942	0.18736	0.541642665863	0.44678	T	0.050224	0.28534	T	-0.237483	0.15672	T	-0.112123	0.62441	T	0.0417967977241197	0.04017	T	0.858914	0.57479	D	0.15114577	0.34374	0.19433507	0.43051	0.15114577	0.34374	0.19433507	0.43050	-4.332	0.28664	T	.	.	0.364	0.71152	A	.;.;.	.;.;.	4.275602	0.65092	24.8	0.99852193249917032	0.93102	0.94358	0.60911	D	AEFBI	0.659920	0.63067	D	0.458543836815341	0.64688	4.729223	0.50256047171868	0.68161	5.182245	0.99999867928014	0.74766	0.736574	0.97449	0	0.547309	0.14657	0	0.732669	0.93749	0	0.735409	0.98432	0	.	.	5.19	5.19	0.71428	5.764000	0.68476	6.151000	0.54196	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.285	0.59668	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	0.011581	0.010101	0.014946	0.014620	0.000000	0.008621	0.006098	0.000000	0.02632	1291.33	33	chr8	18867977	.	T	C	1291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.672;DP=773;ExcessHet=0;FS=4.61;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.523;SOR=0.38	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1305,0,1551	18	0	1	0
chr8	22554598	22554598	G	A	exonic	SORBS3	.	nonsynonymous SNV	SORBS3:NM_005775:exon2:c.G92A:p.R31Q	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	7.7e-05	0.000798722	0.0023	0.0002	0	0	0	0	0.0038	0.0165	0.0017205	266	154602	rs370407437	0.0009	0.0009	0.0005	0.0013	0.0139	0.0008	0.0008	0.0132	0.0129	0.0001	0	0	0	0	0	2.429e-05	0.0009	0.0139	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	9.62e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0075	0.32	0.13566	T	0.631	0.07173	T	0.012	0.16265	B	0.002	0.06944	B	0.137157	0.18422	N	0.382183	0.999715	0.20609	N	1.245	0.31408	L	3.26	0.06681	T	-0.2	0.10136	N	0.189	0.20660	-0.9216	0.45334	T	0.011	0.04369	T	10	0.0056011677	0.00124	T	.	.	.	0.012	0.01476	.	.	0.176091768786	0.17195	0.1951051932140859	0.19427	0.128183651775	0.14451	0.223996162415	0.01553	T	0.085021	0.37409	T	-0.643293	0.00080	T	-0.684498	0.06713	T	0.014247965909349	0.00282	T	0.722228	0.33571	T	0.033972826	0.03722	0.029159436	0.01225	0.033972826	0.03722	0.029159436	0.01224	-3.236	0.12926	T	.	.	0.073	0.04847	B	.	.	0.968347	0.13455	9.961	0.97814411019667447	0.36148	0.03558	0.08763	N	AEFDGBCIJ	0.078078	0.15746	N	-1.09802946966476	0.06679	0.3081682	-1.05724375674671	0.08556	0.4212664	0.999989910843616	0.51787	0.495158	0.18159	0	0.563428	0.19063	0	0.535252	0.11790	0	0.604944	0.38103	0	.	.	5.21	-1.51	0.08207	-1.090000	0.03483	-0.794000	0.07402	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.4263:0.1312:0.4425:0.0	5.716	0.17232	810	0.42761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	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	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	591.33	36	chr8	22554598	.	G	A	591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.12;DP=674;ExcessHet=0;FS=6.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.32;SOR=1.708	GT:AD:DP:GQ:PL	0/1:35,19:54:99:605,0,806	18	0	1	0
chr8	29071857	29071857	G	A	exonic	KIF13B	.	nonsynonymous SNV	KIF13B:NM_015254:exon39:c.C4981T:p.R1661C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.18793310587	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs755491671	2.888e-06	8.893e-06	2.851e-06	2.926e-06	5.651e-05	6.8e-07	4.6e-07	9.36e-06	3.5e-06	0	5.651e-05	0	0	0	0	9.277e-07	0	1.264e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34982	T	0.044	0.49663	D	.	.	.	.	.	.	0.052081	0.22924	N	0.428844	1	0.08975	N	0.445	0.12748	N	-1.09	0.80899	T	-1.68	0.53736	N	0.043	0.01577	-0.8600	0.51263	T	0.238	0.60523	T	10	0.10710707	0.19879	T	0.187933	0.85970	D	0.072	0.21020	.	.	0.727415007108	0.72499	0.5293697743916211	0.52860	0.310624192691	0.33376	0.532702803612	0.43415	T	0.066717	0.33016	T	-0.213025	0.18955	T	-0.415994	0.31534	T	0.176228694363256	0.18994	T	0.864214	0.56927	D	0.06390707	0.13507	0.045026235	0.05968	0.06390707	0.13506	0.045026235	0.05967	-4.671	0.33051	T	.	.	0.117	0.33913	B	.;.	.;.	1.501079	0.19296	14.19	0.9923771145303365	0.56437	0.16779	0.19545	N	AEFDBI	0.169066	0.29587	N	-0.778769933597443	0.13863	0.6861571	-0.735259226817844	0.16085	0.8492402	0.998425040870734	0.36942	0.651	0.46895	0	0.708844	0.79440	0	0.769059	0.98459	0	0.604944	0.38103	0	.	.	5.14	1.92	0.24912	0.305000	0.19006	-0.306000	0.10077	0.588000	0.31329	0.012000	0.18695	0.000000	0.08366	0.177000	0.21203	0.167:0.1217:0.5401:0.1712	2.685	0.04789	643	0.63827	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	867.33	32	chr8	29071857	.	G	A	867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.218;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=1.69;SOR=0.608	GT:AD:DP:GQ:PL	0/1:21,32:53:99:881,0,583	18	0	1	0
chr8	30132674	30132674	A	C	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon3:c.T577G:p.S193A	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00339457	0.0043	0	0	0	0	0.0001	0.0041	0.0115	0.0007827	121	154602	rs538616586	0.0008	0.0007	0.0004	0.0011	0.0120	0.0007	0.0007	0.0114	0.0111	0.0002	0	0	2.798e-05	0	0.0009	3.615e-05	0.0013	0.0120	0.0005	0.0005	0.0002	0.0008	0.0153	0.0004	0.0004	0.0125	0.0115	7.224e-05	0	0	0	0	0	0	1.471e-05	0	0.0153	0.897	0.02442	T	0.875	0.03268	T	0.005	0.12996	B	0.02	0.19048	B	0.258217	0.03691	N	1.577990	1	0.08975	N	1.955	0.52871	M	1.94	0.22678	T	-0.51	0.15986	N	0.158	0.16447	-1.0144	0.25529	T	0.033	0.14073	T	9	0.003267616	0.00056	T	.	.	.	0.017	0.02790	0.324	0.30549	0.188950314367	0.18478	0.05101357154725807	0.05043	.	.	0.281659781933	0.07725	T	0.054534	0.29751	T	-0.597046	0.00152	T	-0.620004	0.11185	T	0.0249853202165121	0.01270	T	0.340266	0.07351	T	0.05594672	0.10942	0.04299905	0.05251	0.05594672	0.10941	0.04299905	0.05251	-3.832	0.21283	T	.	.	0.075	0.05711	B	.	.	0.159367	0.05500	1.966	0.51044059095600203	0.04492	0.01348	0.04627	N	AEFGBI	.	.	.	-1.18484081523987	0.05229	0.2378822	-1.31569882944999	0.04227	0.1989352	0.999979524532476	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.87	-8.04	0.00980	-0.067000	0.11538	-0.652000	0.08023	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.3368:0.205:0.3572:0.1009	2.998	0.05639	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2357.33	40	chr8	30132674	.	A	C	2357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=851;ExcessHet=0;FS=3.587;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.558;SOR=1.015	GT:AD:DP:GQ:PL	0/1:85,85:170:99:2371,0,2266	18	0	1	0
chr8	31639995	31639995	G	C	exonic	NRG1	.	nonsynonymous SNV	NRG1:NM_013962:exon1:c.G11C:p.R4P	.	388	1119	14	1	0	16	0.00709849	.	.	.	104274	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.301	0.997998152407	.	.	0	0	0	0	.	0	0	0	0.00011	17	154602	rs367543150	0.0004	0.0004	0.0004	0.0005	0.0043	0.0004	0.0004	0.0026	0.0021	0	0.0004	0.0034	0	6.752e-05	0.0043	0.0004	0.0007	0.0001	0.0006	0.0006	0.0007	0.0004	0.0009	0.0005	0.0004	0.0006	0.0005	7.273e-05	0	0.0009	0.0035	0	0	0.0102	0.0007	0.0010	0	0.0	0.91255	D	0.0	0.92824	D	0.895	0.49247	P	0.18	0.35854	B	.	.	.	.	1	0.81001	D	.	.	.	-1.2	0.78537	T	0.79	0.01893	N	0.532	0.56058	-0.6431	0.63013	T	0.236	0.60355	T	8	0.021544874	0.00518	T	0.997998	0.99997	D	0.301	0.62179	.	.	0.440148150062	0.43634	.	.	.	.	.	.	.	.	.	.	-0.325522	0.06456	T	-0.290807	0.45689	T	0.23651533785535	0.22258	T	0.473453	0.15758	T	.	.	.	.	.	.	.	.	-3.394	0.14976	T	.	.	0.198	0.51201	B	.;.	.;.	2.570187	0.33303	19.30	0.98015627080999068	0.37589	0.70733	0.34713	D	AEFDBCI	0.498809	0.53275	N	0.0635187341004716	0.44767	2.744761	0.0472924769976856	0.41941	2.528304	0.996339271546913	0.34675	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.91	1.98	0.25351	3.585000	0.53686	4.179000	0.42325	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.1749:0.0:0.8251:0.0	5.162	0.14392	875	0.30485	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5871.79	39	chr8	31639995	.	G	C	5871.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.593;DP=1098;ExcessHet=0.3672;FS=1.144;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.728;SOR=0.795	GT:AD:DP:GQ:PL	0/1:89,82:171:99:2037,0,2062	16	0	3	0
chr8	38787628	38787628	A	C	exonic	TACC1	.	nonsynonymous SNV	TACC1:NM_001122824:exon1:c.A46C:p.K16Q,TACC1:NM_001352779:exon1:c.A46C:p.K16Q,TACC1:NM_001352781:exon1:c.A46C:p.K16Q,TACC1:NM_001352783:exon1:c.A46C:p.K16Q,TACC1:NM_001352800:exon1:c.A46C:p.K16Q,TACC1:NM_001352801:exon1:c.A46C:p.K16Q,TACC1:NM_001352803:exon1:c.A46C:p.K16Q,TACC1:NM_006283:exon1:c.A46C:p.K16Q,TACC1:NM_001352778:exon3:c.A94C:p.K32Q,TACC1:NM_001352780:exon3:c.A94C:p.K32Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.112114127622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.72154	D	0.014	0.92824	D	0.906	0.49993	P	0.444	0.45865	B	0.000530	0.43581	D	0.086761	1	0.81001	D	2.52	0.73523	M	2.28	0.60734	T	-2.97	0.61865	D	0.377	0.41853	-0.6827	0.61248	T	0.217	0.57876	T	10	0.34808838	0.51730	T	0.112114	0.79014	D	0.065	0.18881	0.427	0.47350	0.664534855796	0.66171	0.5075763687175749	0.50679	0.494330584606	0.47994	0.813246667385	0.83990	D	0.136289	0.46857	T	-0.0299475	0.47426	T	-0.280794	0.46724	T	0.978589951992035	0.72399	D	0.931507	0.75281	D	0.26986337	0.50058	0.16012678	0.37311	0.26986337	0.50058	0.16012678	0.37310	-9.593	0.71437	D	.	.	0.682	0.72230	P	.;.;.	.;.;.	4.573802	0.72187	25.8	0.98791612972740106	0.46301	0.86576	0.45885	D	ALL	0.492463	0.52909	N	0.258323239028593	0.54053	3.572	0.283260615034968	0.54560	3.620782	0.999999997850026	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	4.75	3.51	0.39297	2.200000	0.42358	7.733000	0.67792	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8236:0.1764:0.0:0.0	9.563	0.38545	828	0.39726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1145.33	34	chr8	38787628	.	A	C	1145.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.871;DP=729;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.04;SOR=0.531	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1159,0,1394	18	0	1	0
chr8	39011688	39011688	G	A	exonic	ADAM9	.	nonsynonymous SNV	ADAM9:NM_003816:exon3:c.G226A:p.E76K	Cone-rod dystrophy 9	3	1467	49	3	0	55	0.0184008	.	.	.	193527	Cone-rod_dystrophy_9|not_specified|not_provided	MONDO:MONDO:0013002,MedGen:C1423873,OMIM:612775,Orphanet:1872|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	.	0.0041	0.00399361	0.0064	0.0008	0.0042	0.0001	0.0005	0.0055	0.0066	0.0206	0.0059249	916	154602	rs61753672	0.0058	0.0059	0.0053	0.0063	0.0204	0.0056	0.0056	0.0196	0.0193	0.0007	0.0046	0.0214	2.523e-05	0.0007	0.0134	0.0047	0.0079	0.0204	0.0049	0.0049	0.0046	0.0051	0.0190	0.0046	0.0044	0.0159	0.0147	0.0013	0	0.0056	0.0282	0.0002	0.0008	0.0136	0.0055	0.0085	0.0190	0.43	0.13479	T	0.283	0.21478	T	0.046	0.24799	B	0.042	0.30390	B	0.002571	0.36316	N	0.322851	0.701829	0.30683	N	0.69	0.16971	N	3.24	0.06845	T	-0.8	0.22078	N	0.298	0.33687	-0.9505	0.40885	T	0.008	0.02638	T	10	0.0056779087	0.00126	T	.	.	.	0.059	0.16972	.	.	0.335408717102	0.33150	0.5952498386516747	0.59454	0.445410381898	0.44433	0.383827090263	0.22798	T	0.00501	0.26742	T	-0.596119	0.00154	T	-0.614123	0.11652	T	0.00231834998494195	0.00024	T	0.826617	0.52285	T	0.05485932	0.10582	0.05220143	0.08554	0.06884481	0.15033	0.06662778	0.13673	-3.492	0.16320	T	0.1193214732773478	0.11103	0.129	0.27523	B	.;.;.	.;.;.	2.015665	0.25613	16.83	0.82309923148698827	0.14126	0.67078	0.33303	D	AEFGBI	0.067283	0.13219	N	-0.616600102492996	0.18444	0.9576911	-0.446834104372004	0.23638	1.290172	0.999875220121655	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.73	1.19	0.20120	0.969000	0.28967	2.921000	0.35563	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.894000	0.43146	0.1356:0.3548:0.5096:0.0	6.302	0.20327	665	0.61472	Peptidase M12B, propeptide;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011078	0.015152	0.008152	0.002924	0.000000	0.000000	0.018293	0.018939	0.02632	1908.33	35	chr8	39011688	.	G	A	1908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.9;DP=769;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.24;SOR=0.754	GT:AD:DP:GQ:PL	0/1:79,75:154:99:1922,0,1925	18	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	253.95	36	chr8	39963621	.	A	G	253.95	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.5;DP=2573;ExcessHet=0.7564;FS=95.1;InbreedingCoeff=-0.1267;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.07;SOR=11.761	GT:AD:DP:GQ:PL	0/1:145,44:189:61:61,0,2780	15	0	4	0
chr8	58599301	58599301	G	A	exonic	NSMAF	.	nonsynonymous SNV	NSMAF:NM_001144772:exon19:c.C1609T:p.L537F,NSMAF:NM_003580:exon19:c.C1516T:p.L506F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.0747880068884	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746860312	3.421e-06	3.42e-06	4.084e-06	2.751e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.205	0.97843	H	-1.18	0.78314	T	-3.66	0.70067	D	0.917	0.91968	0.841	0.94921	D	0.804	0.93369	D	9	0.9285847	0.92202	D	0.074788	0.72129	D	0.518	0.79461	0.759	0.88811	0.95973034716	0.95930	0.7816406937153102	0.78115	0.85220986116	0.68590	0.652617931366	0.60357	T	0.945205	0.99169	D	0.226243	0.76364	D	0.170071	0.81414	D	0.997922599315643	0.92772	D	0.987126	0.95588	D	0.6763842	0.76775	0.61273766	0.77467	0.6763842	0.76776	0.61273766	0.77468	-10.539	0.77682	D	.	.	0.761	0.78094	P	.;.	.;.	5.395732	0.90374	31	0.9991623845645754	0.98449	0.99243	0.93340	D	AEFBI	0.884125	0.81356	D	1.13596104644896	0.98747	19.23873	1.05473690069557	0.99434	22.69125	0.999999999960787	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.17	6.17	0.99707	10.003000	0.99689	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:1.0:0.0	20.879	0.99870	957	0.09725	BEACH domain|BEACH domain|BEACH domain|BEACH domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1649.33	34	chr8	58599301	.	G	A	1649.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=785;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-2.031;SOR=0.608	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1663,0,1545	18	0	1	0
chr8	64581463	64581463	-	GCAGCAGCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.673_674insGCAGCAGCA:p.S234_K235insSSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs564889045	0.0003	0.0002	0.0003	0.0002	0.0045	0.0002	0.0002	0.0031	0.0027	0.0006	0.0004	4.079e-05	0.0001	2.808e-05	0.0045	0.0002	0.0008	0.0001	0.0003	0.0003	0.0003	0.0004	0.0007	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0004	0	0.0002	0	0.0040	0.0004	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6849.62	34	chr8	64581463	.	G	GGCAGCAGCA	6849.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=939;ExcessHet=0.1504;FS=0.825;InbreedingCoeff=0.2078;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=22.91;ReadPosRankSum=1.17;SOR=0.63	GT:AD:DP:GQ:PL	0/1:32,32:66:99:1195,0,1179	18	0	1	0
chr8	66444705	66444705	T	-	exonic	ADHFE1	.	frameshift deletion	ADHFE1:NM_144650:exon5:c.310delT:p.F104Lfs*7	.	428	1074	18	2	0	22	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0025	0	0.0006	0	0	0.0002	0.0011	0.0168	0.0020375	315	154602	rs567577128	0.0012	0.0012	0.0007	0.0017	0.0176	0.0011	0.0011	0.0168	0.0165	5.974e-05	0.0004	0.0007	0	0	0.0045	8.363e-05	0.0010	0.0176	0.0007	0.0007	0.0004	0.0010	0.0170	0.0006	0.0005	0.0140	0.0129	2.405e-05	0	0.0004	0.0014	0	0	0	7.349e-05	0.0005	0.0170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.007576	0.05263	5173.79	33	chr8	66444704	.	CT	C	5173.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.722;DP=973;ExcessHet=0.119;FS=5.979;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.262;SOR=0.965	GT:AD:DP:GQ:PL	0/1:109,97:206:99:2837,0,3249	17	0	2	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	665.25	64	chr8	67267206	.	T	G	665.25	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-4.209;DP=1722;ExcessHet=0.7564;FS=168.069;InbreedingCoeff=-0.2463;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.52;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,42:134:99:.:.:118,0,1545:.	8	0	4	7
chr8	91362401	91362401	G	A	exonic	SLC26A7	.	nonsynonymous SNV	SLC26A7:NM_001282357:exon12:c.G460A:p.V154M,SLC26A7:NM_052832:exon12:c.G1363A:p.V455M,SLC26A7:NM_134266:exon12:c.G1363A:p.V455M,SLC26A7:NM_001282356:exon13:c.G1363A:p.V455M	.	438	1077	6	1	0	8	0.00370028	.	.	.	700683	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.458	.	0.0063	0.00139776	0.0052	0.0014	0.0021	0	0.0070	0.0077	0.0022	0.0016	0.0049158	760	154602	rs145779342	0.0065	0.0066	0.0067	0.0064	0.0076	0.0064	0.0064	0.0074	0.0074	0.0016	0.0022	0.0041	0	0.0061	0.0021	0.0076	0.0064	0.0018	0.0050	0.0050	0.0053	0.0048	0.0082	0.0047	0.0046	0.0076	0.0074	0.0009	0.0208	0.0034	0.0026	0	0.0068	0.0068	0.0082	0.0043	0.0021	0.008	0.58626	D	0.009	0.66756	D	0.993	0.73220	D	0.855	0.70672	P	0.002457	0.36537	N	0.194049	0.70784	0.33487	D	0.895	0.22405	L	-3.14	0.92884	D	-0.43	0.15986	N	0.714	0.72477	0.469	0.90106	D	0.651	0.87839	D	10	0.021195978	0.00503	T	.	.	.	0.458	0.75619	.	.	0.845743235612	0.84426	0.6214864548242729	0.62081	0.413517877279	0.42054	0.656804203987	0.60952	T	0.075524	0.35197	T	-0.182711	0.23333	T	-0.027694	0.68521	D	0.00998076788192888	0.00133	T	0.854015	0.53996	D	0.07471273	0.16786	0.11087068	0.26739	0.07471273	0.16786	0.11087068	0.26739	-3.136	0.11714	T	.	.	0.165	0.36475	B	.;.;.;.;.	.;.;.;.;.	3.480827	0.48608	22.6	0.9986294349956516	0.94093	0.83876	0.42968	D	AEFDBI	0.181243	0.30856	N	0.369419519706266	0.59772	4.159491	0.389743695718913	0.60932	4.286517	3.35683401625993E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.664235	0.64389	0	.	.	5.83	4.04	0.46262	3.936000	0.56280	5.790000	0.49863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.2192:0.0:0.7808:0.0	9.341	0.37241	770	0.49152	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	2051.33	37	chr8	91362401	.	G	A	2051.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.306;DP=782;ExcessHet=0;FS=5.534;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.069;SOR=0.648	GT:AD:DP:GQ:PL	0/1:81,83:164:99:2065,0,1993	18	0	1	0
chr8	109119069	109119069	G	C	exonic	TRHR	.	nonsynonymous SNV	TRHR:NM_003301:exon3:c.G811C:p.V271L	Thyrotropin-releasing hormone resistance, generalized (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0368772164942	.	0.000199681	8.239e-05	0	0	0	0	0	0	0.0006	7.12e-05	11	154602	rs556795929	1.643e-05	1.642e-05	1.226e-05	2.064e-05	0.0007	1.111e-05	9.34e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	0.0002	1.317e-05	1.313e-05	1.289e-05	1.347e-05	0.0004	2.19e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.004	0.65419	D	0.061	0.45530	T	0.874	0.48047	P	0.666	0.52990	P	0.000004	0.62929	D	0.104830	1	0.81001	D	.	.	.	-0.3	0.67874	T	-2.78	0.58896	D	0.709	0.76853	-0.1347	0.79292	T	0.460	0.79038	T	10	0.5331758	0.63299	D	0.036877	0.57267	D	0.491	0.77783	0.624	0.75916	0.862410768355	0.86108	0.7458500230237926	0.74531	0.308317518436	0.33146	0.729915380478	0.71493	T	0.707063	0.91614	D	0.0903713	0.63232	D	0.214002	0.83873	D	0.439836354703644	0.30423	T	0.883212	0.60517	D	0.548173	0.69853	0.5468475	0.73804	0.548173	0.69854	0.5468475	0.73804	-7.214	0.55582	T	0.7201793324352515	0.80122	0.967	0.88983	P	.;.	.;.	4.818514	0.78455	26.9	0.9976915905847652	0.85750	0.98887	0.88185	D	AEFBI	0.928965	0.91399	D	0.80609942663729	0.86486	8.901023	0.827576992571101	0.91642	10.99122	0.999999999370263	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.116000	0.89434	10.007000	0.83074	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.641	0.95751	640	0.64132	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2313.33	34	chr8	109119069	.	G	C	2313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.334;DP=808;ExcessHet=0;FS=2.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=1.44;SOR=0.499	GT:AD:DP:GQ:PL	0/1:83,91:174:99:2327,0,2144	18	0	1	0
chr8	123182972	123182972	C	T	exonic	FAM83A	.	nonsynonymous SNV	FAM83A:NM_001288587:exon1:c.C116T:p.T39M,FAM83A:NM_001321630:exon1:c.C116T:p.T39M,FAM83A:NM_032899:exon2:c.C116T:p.T39M,FAM83A:NM_207006:exon2:c.C116T:p.T39M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	0.00139776	0.0013	0.0001	0.0002	0.0001	0	3.276e-05	0	0.0105	0.0010479	162	154602	rs528392267	0.0005	0.0005	0.0003	0.0008	0.0085	0.0005	0.0005	0.0079	0.0077	5.984e-05	4.5e-05	0	0	1.885e-05	0.0005	4.504e-06	0.0008	0.0085	0.0002	0.0002	0.0001	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0075	0.071	0.35165	T	0.152	0.37173	T	0.966	0.56202	D	0.4	0.44481	B	0.000383	0.44960	D	0.227938	0.844	0.35105	D	2.27	0.64531	M	2.76	0.11515	T	-1.23	0.37566	N	0.359	0.42541	-1.0341	0.19141	T	0.030	0.12935	T	10	0.016077101	0.00338	T	.	.	.	0.070	0.20419	.	.	0.295623431141	0.29171	0.37376464525415865	0.37290	1.01639283316	0.74965	0.56496745348	0.47968	T	0.012868	0.11231	T	-0.503515	0.00546	T	-0.490491	0.23340	T	0.0382086895216926	0.03370	T	0.926107	0.77317	D	0.05034993	0.09082	0.10971872	0.26447	0.05034993	0.09081	0.10971872	0.26446	-7.33	0.56408	T	.	.	0.112	0.28863	B	.;.;.;.	.;.;.;.	3.945221	0.57762	23.9	0.99277487021478539	0.57765	0.80599	0.40194	D	AEFDGBHCI	0.212643	0.33830	N	0.236741884652811	0.52988	3.469739	0.283977490641213	0.54604	3.624857	0.999999973845922	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.06	0.46572	2.790000	0.47512	5.674000	0.49268	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.690000	0.33838	0.0:0.9158:0.0:0.0842	14.522	0.67445	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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1514.33	33	chr8	123182972	.	C	T	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=766;ExcessHet=0;FS=5.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.033;SOR=0.737	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1528,0,1535	18	0	1	0
chr8	123681301	123681301	T	G	exonic	ANXA13	.	nonsynonymous SNV	ANXA13:NM_004306:exon11:c.A890C:p.D297A,ANXA13:NM_001003954:exon12:c.A1013C:p.D338A	.	432	1089	1	0	0	1	0.000458926	.	.	.	3278798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.0160625226098	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs771029692	3.078e-05	3.215e-05	1.77e-05	4.4e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0.0002	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.325	0.18846	T	0.962	0.55554	D	0.626	0.51600	P	0.000009	0.62929	D	0.174408	0.950079	0.38297	D	1.29	0.32370	L	3.9	0.03516	T	-2.47	0.53898	N	0.216	0.24260	-0.6992	0.60476	T	0.013	0.04843	T	10	0.20481881	0.36687	T	0.016063	0.37127	T	0.122	0.33800	0.436	0.48828	0.405979908929	0.40213	0.5930139872672464	0.59231	0.20667042463	0.23098	0.447197198868	0.31562	T	0.016825	0.13832	T	-0.377003	0.03254	T	-0.468796	0.25646	T	0.454331398010254	0.30956	T	0.722728	0.34191	T	0.37297475	0.58804	0.2580647	0.51534	0.37297475	0.58804	0.2580647	0.51533	-4.136	0.32322	T	.	.	0.122	0.35663	B	.;.	.;.	3.995748	0.58836	24.0	0.9923103078035489	0.56214	0.91483	0.53626	D	AEFDGBIJ	0.719172	0.67014	D	0.320413167815542	0.57196	3.886204	0.426306891600233	0.63210	4.550223	0.99999999938402	0.74766	0.486886	0.10167	0	0.59043	0.45803	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	5.71	5.71	0.89031	5.170000	0.64828	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.493	0.60866	958	0.09170	.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1614.33	44	chr8	123681301	.	T	G	1614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.304;DP=1070;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.308;SOR=0.667	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1628,0,1826	18	0	1	0
chr8	131985016	131985016	A	G	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon16:c.A1717G:p.S573G,EFR3A:NM_001323554:exon16:c.A1717G:p.S573G,EFR3A:NM_001323555:exon16:c.A1717G:p.S573G,EFR3A:NM_001323556:exon16:c.A1717G:p.S573G,EFR3A:NM_001323557:exon16:c.A1717G:p.S573G,EFR3A:NM_001323558:exon16:c.A1825G:p.S609G,EFR3A:NM_015137:exon16:c.A1825G:p.S609G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.022292327744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.164	0.31026	T	0.982	0.60036	D	0.889	0.63100	P	0.000000	0.84330	D	0.078008	1	0.81001	D	2.475	0.71894	M	1.28	0.35960	T	-2.36	0.52128	N	0.817	0.81261	-0.7265	0.59140	T	0.203	0.56045	T	10	0.7168234	0.73401	D	0.022292	0.45163	T	0.247	0.55478	0.73	0.86373	0.651745054351	0.64884	0.6224435417194728	0.62177	0.337740173054	0.35759	0.737860500813	0.72658	T	0.103807	0.41280	T	0.0457965	0.57801	T	-0.171993	0.57261	T	0.917470514774323	0.57532	D	0.956938	0.83632	D	0.24130891	0.47045	0.23777299	0.49084	0.24130891	0.47045	0.23777299	0.49082	-9.23	0.71542	D	.	.	0.146	0.45605	B	.;.;.	.;.;.	4.703057	0.75479	26.3	0.99797219745229282	0.88194	0.97017	0.72210	D	AEFBI	0.770123	0.70517	D	0.690502273198681	0.79011	6.988244	0.668842858072658	0.80021	7.207174	0.999989191287882	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	6.945000	0.75753	11.153000	0.87408	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.600	0.68028	933	0.16026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1244.33	33	chr8	131985016	.	A	G	1244.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.584;DP=760;ExcessHet=0;FS=4.373;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.189;SOR=0.921	GT:AD:DP:GQ:PL	0/1:69,53:122:99:1258,0,1844	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:82,37:123:33:33,0,1316	4	0	12	3
chr8	133102554	133102554	G	A	exonic	SLA	.	nonsynonymous SNV	SLA:NM_001045557:exon1:c.C10T:p.R4W,SLA:NM_001282964:exon1:c.C10T:p.R4W	.	426	1088	7	1	0	9	0.00411899	0	0.024	.	2828538	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0046	0.00199681	0.0032	0.0023	0.0024	0	0	0.0039	0.0105	0.0029	0.0013001	201	154602	rs186646388	0.0050	0.0048	0.0050	0.0050	0.0058	0.0049	0.0049	0.0057	0.0057	0.0008	0.0017	0.0014	8.394e-05	0.0026	0.0021	0.0058	0.0037	0.0026	0.0037	0.0037	0.0040	0.0034	0.0062	0.0035	0.0034	0.0057	0.0055	0.0012	0.0219	0.0022	0.0017	0.0004	0.0023	0.0068	0.0062	0.0005	0.0021	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.994535	0.81001	D	.	.	.	-1.34	0.79944	T	-0.19	0.14390	N	0.121	0.16308	-0.8188	0.54009	T	0.168	0.50681	T	8	0.00686118	0.00156	T	.	.	.	0.107	0.30369	.	.	0.102598925029	0.09809	.	.	.	.	.	.	.	.	.	.	-0.501485	0.00561	T	-0.482737	0.24156	T	0.0658339253132563	0.08053	T	0.589941	0.21689	T	.	.	.	.	.	.	.	.	-3.926	0.22693	T	.	.	0.222	0.45285	B	.;.	.;.	0.592077	0.09604	6.379	0.9944515399919327	0.64971	0.05817	0.11756	N	AEFDGBCIJ	0.154220	0.27921	N	-0.829297387980121	0.12565	0.6132792	-1.03678240236627	0.08984	0.4445469	0.999999061036408	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.37	-4.28	0.03475	-0.095000	0.11043	-0.640000	0.08082	-0.748000	0.03609	0.033000	0.20612	0.000000	0.08366	0.064000	0.16252	0.1169:0.2026:0.2748:0.4057	1.683	0.02665	829	0.39537	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	951.33	38	chr8	133102554	.	G	A	951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=771;ExcessHet=0;FS=1.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.925;SOR=0.984	GT:AD:DP:GQ:PL	0/1:45,40:85:99:965,0,1015	18	0	1	0
chr8	142229492	142229492	G	A	exonic	TSNARE1	.	stopgain	TSNARE1:NM_001363740:exon13:c.C1537T:p.R513X,TSNARE1:NM_001366901:exon13:c.C1531T:p.R511X,TSNARE1:NM_145003:exon13:c.C1534T:p.R512X	.	422	1099	1	0	0	1	0.000454752	.	.	.	722880	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0088	0.0091853	0.0025	0.0272	0.0010	0	0	0.0001	0.0022	0	0.0023997	371	154602	rs11988455	0.0007	0.0007	0.0008	0.0006	0.0246	0.0007	0.0007	0.0232	0.0226	0.0246	0.0013	0	0.0001	0	0.0010	8.274e-05	0.0014	2.319e-05	0.0071	0.0071	0.0075	0.0067	0.0244	0.0067	0.0066	0.0232	0.0227	0.0244	0	0.0027	0.0003	0	0	0	0.0002	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.042	0.01577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0176768	0.49184	T	0.221429	0.84247	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;Tolerant	.;High;High	6.096054	0.94551	34	0.84807949294017182	0.15509	0.03054	0.07954	N	AEFGBCI	0.029643	0.02836	N	-0.618024701370476	0.18402	0.9551591	-1.01180241789296	0.09525	0.4743847	0.0352351238447053	0.14191	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.42	-1.18	0.09122	-0.030000	0.12257	-2.616000	0.03545	-1.468000	0.01074	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2657:0.0:0.5412:0.193	3.605	0.07586	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	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1855.33	36	chr8	142229492	.	G	A	1855.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.255;DP=815;ExcessHet=0;FS=2.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=2.23;SOR=0.522	GT:AD:DP:GQ:PL	0/1:55,75:130:99:1869,0,1224	18	0	1	0
chr8	143440242	143440242	C	A	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon11:c.G2614T:p.A872S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0262142191248	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761197045	0	1.371e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.6e-06	6.58e-06	0	1.352e-05	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	1.0	0.00964	T	0.934	0.02742	T	0.028	0.19712	B	0.009	0.14300	B	0.882257	0.07243	N	1.078680	1	0.08975	N	0.44	0.12706	N	0.9	0.45248	T	0.18	0.05035	N	0.152	0.15609	-1.0207	0.23486	T	0.041	0.17827	T	10	0.03781569	0.02160	T	0.026214	0.49143	D	0.020	0.03691	0.257	0.19845	0.043077524339	0.03247	0.21976063298064152	0.21892	.	.	0.419420838356	0.27756	T	0.002516	0.01904	T	-0.291641	0.09471	T	-0.656698	0.08491	T	0.040813469122686	0.03838	T	0.181682	0.01835	T	0.041231535	0.06034	0.039490134	0.04053	0.041231535	0.06033	0.039490134	0.04052	-1.595	0.01970	T	.	.	0.076	0.06159	B	.	.	-0.498449	0.01872	0.153	0.59998095689122222	0.06357	0.02374	0.06752	N	AEFDBHCI	0.043703	0.06942	N	-1.32031452520979	0.03443	0.153814	-1.32794000532051	0.04073	0.1913474	0.371190745066474	0.19872	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.58	-1.22	0.09005	0.127000	0.15617	.	.	0.545000	0.25583	0.000000	0.06391	0.002000	0.18203	0.009000	0.08673	0.3736:0.276:0.2669:0.0836	2.963	0.05539	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	717.33	37	chr8	143440242	.	C	A	717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.928;DP=684;ExcessHet=0;FS=1.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.03;SOR=0.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,27:49:99:1|0:143440217_G_T:731,0,797:143440217	18	0	1	0
chr8	143589973	143589973	C	A	exonic	EEF1D	.	nonsynonymous SNV	EEF1D:NM_001130053:exon3:c.G109T:p.A37S,EEF1D:NM_032378:exon3:c.G109T:p.A37S	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0186231166524	0.0014	.	0.0017	0.0004	0.0036	0	0	0.0023	0.0040	0	0.0015071	233	154602	rs144264495	0.0019	0.0019	0.0020	0.0019	0.0024	0.0019	0.0019	0.0022	0.0022	0.0003	0.0024	0.0009	0	0.0004	0.0003	0.0023	0.0015	0	0.0013	0.0013	0.0013	0.0013	0.0020	0.0011	0.0011	0.0017	0.0016	0.0005	0	0.0020	0.0012	0	0.0003	0	0.0019	0.0028	0	0.002	0.72154	D	0.127	0.92824	T	0.325	0.38362	B	0.274	0.40037	B	0.526247	0.11687	N	0.721310	0.999981	0.54805	D	.	.	.	.	.	.	-0.34	0.58248	N	0.222	0.25006	-1.0407	0.17101	T	0.119	0.41799	T	9	0.0062532127	0.00141	T	0.018623	0.40743	T	0.042	0.11227	.	.	0.423954403188	0.42011	0.1540466887093189	0.15326	0.125980353182	0.14199	0.364943385124	0.20103	T	0.004489	0.22872	T	-0.427327	0.01539	T	-0.391218	0.34408	T	0.00972581156821116	0.00127	T	0.758424	0.38228	T	.	.	.	.	.	.	.	.	-4.286	0.27980	T	.	.	0.097	0.15698	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.202390	0.05869	2.310	0.95521825032235619	0.27141	0.73140	0.35781	D	AEFBCI	0.119022	0.23248	N	-0.72874650796534	0.15217	0.7649619	-0.739152644071953	0.15989	0.843687	0.999792835234263	0.43153	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.31	1.52	0.22158	0.023000	0.13424	.	.	-0.200000	0.08971	0.085000	0.22462	0.000000	0.08366	0.111000	0.18785	0.0:0.7112:0.0:0.2888	9.374	0.37437	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1689.33	36	chr8	143589973	.	C	A	1689.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.308;DP=845;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-0.624;SOR=0.923	GT:AD:DP:GQ:PL	0/1:43,63:106:99:1703,0,1076	18	0	1	0
chr8	143921083	143921083	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C8696T:p.P2899L,PLEC:NM_201379:exon32:c.C8672T:p.P2891L,PLEC:NM_201380:exon32:c.C9149T:p.P3050L,PLEC:NM_201381:exon32:c.C8642T:p.P2881L,PLEC:NM_201382:exon32:c.C8738T:p.P2913L,PLEC:NM_201383:exon32:c.C8750T:p.P2917L,PLEC:NM_201384:exon32:c.C8738T:p.P2913L,PLEC:NM_000445:exon33:c.C8819T:p.P2940L	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	636685	Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia	MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.480	0.341551096273	.	.	2.488e-05	0.0001	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs782043368	2.672e-05	2.736e-05	2.318e-05	3.03e-05	0.0002	2e-05	1.757e-05	8.885e-05	7.053e-05	2.987e-05	0	0	5.038e-05	0	0.0002	1.799e-05	3.312e-05	0.0002	3.285e-05	3.283e-05	2.569e-05	4.034e-05	6.543e-05	1.261e-05	7.98e-06	1.17e-05	6.25e-06	2.412e-05	0	6.543e-05	0	0	0	0	4.409e-05	0	0	0.195	0.34269	T	0.029	0.57104	D	0.999	0.77913	D	0.873	0.61978	P	0.000007	0.62929	U	0.000000	1	0.81001	D	2.74	0.80084	M	-0.99	0.76300	T	-2.95	0.63669	D	0.725	0.77507	0.108	0.84325	D	0.571	0.84476	D	10	0.71388704	0.73220	D	0.341551	0.92029	D	0.480	0.77077	0.408	0.44230	0.764253334005	0.76210	0.45101042624298665	0.45019	.	.	0.618685007095	0.55543	T	0.081514	0.36616	T	-0.0779572	0.40048	T	-0.113088	0.62365	T	0.781854391098022	0.45166	D	0.865113	0.56350	D	0.121022165	0.28467	0.16902587	0.38906	0.121022165	0.28466	0.16902587	0.38905	-9.31	0.69669	D	0.5911276105033179	0.65793	0.265	0.57775	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.548533	0.49877	22.8	0.93962463111751182	0.24032	0.92989	0.57045	D	AEFDGBHCI	0.771680	0.70624	D	0.332603296741365	0.57829	3.951915	0.18702351124326	0.49137	3.120424	0.99999999994996	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	3.93	0.44666	6.671000	0.74311	.	.	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.8425:0.1575	13.552	0.61202	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	8509.33	61	chr8	143921083	.	G	A	8509.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=2599;ExcessHet=0;FS=2.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.214;SOR=0.851	GT:AD:DP:GQ:PL	0/1:289,314:603:99:8523,0,7118	18	0	1	0
chr8	143925556	143925556	C	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G4331T:p.R1444L,PLEC:NM_201379:exon31:c.G4307T:p.R1436L,PLEC:NM_201380:exon31:c.G4784T:p.R1595L,PLEC:NM_201381:exon31:c.G4277T:p.R1426L,PLEC:NM_201382:exon31:c.G4373T:p.R1458L,PLEC:NM_201383:exon31:c.G4385T:p.R1462L,PLEC:NM_201384:exon31:c.G4373T:p.R1458L,PLEC:NM_000445:exon32:c.G4454T:p.R1485L	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	457981	Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Inborn_genetic_diseases|Junctional_epidermolysis_bullosa_with_pyloric_atresia|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009183,MedGen:C5676875,OMIM:226730,Orphanet:79403|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.153741139541	.	.	0.0003	0	0	0	0	7.825e-05	0	0.0014	0.0001488	23	154602	rs782720526	0.0001	0.0001	5.396e-05	0.0002	0.0012	9.132e-05	8.607e-05	0.0011	0.0010	0	2.277e-05	0	0	0	0.0010	2.257e-05	0.0002	0.0012	7.223e-05	7.218e-05	7.711e-05	6.713e-05	0.0008	3.968e-05	3.125e-05	0.0003	0.0002	0	0	0	0	0	0	0	8.824e-05	0.0005	0.0008	0.002	0.72154	D	0.005	0.72224	D	0.999	0.77913	D	0.929	0.66367	D	0.000830	0.41547	U	0.090347	0.999989	0.58761	D	2.31	0.66127	M	1.75	0.26152	T	-3.02	0.62976	D	0.709	0.74553	-0.9088	0.47001	T	0.134	0.44759	T	10	0.23019841	0.39965	T	0.153741	0.83496	D	0.209	0.49871	0.349	0.34598	0.5578725173	0.55448	0.7683707458830185	0.76786	.	.	0.933466553688	0.99171	D	0.323175	0.69411	T	-0.29831	0.08819	T	-0.241812	0.50621	T	0.126202881545462	0.15027	T	0.957804	0.84101	D	0.23518221	0.46350	0.17947765	0.40685	0.23518221	0.46350	0.17947765	0.40684	-9.496	0.72712	D	0.6458802132677781	0.71727	0.281	0.54198	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.114778	0.61453	24.3	0.95835651018275725	0.27949	0.79798	0.39614	D	AEFDBCI	0.494147	0.53006	N	0.48059431155774	0.65958	4.888407	0.432651473588278	0.63609	4.598301	0.999999999961725	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.44	4.44	0.53164	3.801000	0.55249	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.613000	0.31716	0.0:1.0:0.0:0.0	17.021	0.86307	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	0.001014	0.000000	0.000000	0.002959	0.000000	0.000000	0.003067	0.003788	0.02632	1173.33	54	chr8	143925556	.	C	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.556;DP=999;ExcessHet=0;FS=1.785;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.719;SOR=0.468	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1187,0,1114	18	0	1	0
chr8	144264233	144264233	C	T	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon7:c.G970A:p.E324K	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0192376660274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs904680381	0.0013	0.0013	0.0012	0.0014	0.0097	0.0013	0.0012	0.0076	0.0068	0.0003	0.0015	0.0173	2.528e-05	3.861e-05	0.0097	0.0010	0.0028	0.0013	0.0014	0.0014	0.0013	0.0015	0.0018	0.0012	0.0012	0.0012	0.0011	0.0005	0.0121	0.0018	0.0164	0	0	0.0068	0.0012	0.0024	0.0004	0.228	0.18434	T	0.15	0.32461	T	.	.	.	.	.	.	0.001395	0.39175	N	0.211078	.	.	.	.	.	.	1.07	0.39586	T	-2.44	0.53420	N	0.236	0.26596	-0.8609	0.51198	T	0.114	0.40559	T	6	0.014840722	0.00312	T	0.10154	0.77448	D	.	.	.	.	0.283272178027	0.27931	0.43584697494302443	0.43501	.	.	0.764852046967	0.76653	T	0.194478	0.55027	T	-0.188948	0.22413	T	-0.509187	0.21399	T	0.872432172298431	0.52231	D	.	.	.	0.09370612	0.22014	0.1122232	0.27075	0.09370612	0.22014	0.1122232	0.27074	-9.848	0.72997	D	.	.	0.092	0.13783	B	.	.	1.559095	0.19974	14.53	0.97557370007692779	0.34604	0.30039	0.23979	N	AEFGI	0.308554	0.41510	N	-0.477214403953392	0.22830	1.221735	-0.552560978675029	0.20738	1.118674	0.0671524018112715	0.15417	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.56	2.67	0.30756	0.739000	0.25841	1.068000	0.23780	-0.195000	0.09104	0.008000	0.17931	0.307000	0.24252	0.001000	0.02609	0.0:0.8837:0.0:0.1163	8.855	0.34379	946	0.12043	BOP1, N-terminal domain|BOP1, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3589.83	39	chr8	144264233	.	C	T	3589.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.49;DP=954;ExcessHet=0.119;FS=0.429;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.594;SOR=0.654	GT:AD:DP:GQ:PL	0/1:68,71:139:99:1844,0,1602	17	0	2	0
chr9	1056443	1056443	G	C	exonic	DMRT2	.	nonsynonymous SNV	DMRT2:NM_001370532:exon3:c.G334C:p.A112P,DMRT2:NM_181872:exon4:c.G856C:p.A286P	.	.	.	.	.	.	.	.	.	.	.	3194160	DMRT2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00869519058902	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs749118381	1.163e-05	1.163e-05	5.445e-06	1.788e-05	0.0002	7.08e-06	5.79e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.136	0.34009	T	0.009	0.15093	B	0.007	0.12992	B	0.154617	0.17856	N	0.559147	0.981791	0.81001	D	2.085	0.57729	M	1.69	0.27032	T	-0.92	0.24676	N	0.167	0.31027	-1.0867	0.06102	T	0.051	0.21883	T	10	0.08469528	0.14221	T	0.008695	0.22952	T	0.018	0.03083	0.35	0.34760	0.185906805712	0.18197	0.5451939736961674	0.54445	0.00676594994391	0.00596	0.354502111673	0.18583	T	0.227665	0.59302	T	-0.427563	0.01534	T	-0.555749	0.16777	T	0.054455020957934	0.06266	T	0.682432	0.29103	T	0.13567358	0.31479	0.13004152	0.31256	0.13567358	0.31479	0.13004152	0.31255	-3.022	0.10420	T	.	.	0.101	0.18746	B	.;.;.	.;.;.	1.518322	0.19495	14.29	0.98843357536655041	0.47169	0.83775	0.42871	D	AEFBI	0.683522	0.64618	D	-0.415055097620292	0.24940	1.350336	-0.347390146042316	0.26589	1.469695	0.512050691012532	0.21027	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	2.62	0.30337	0.992000	0.29268	2.585000	0.33436	0.618000	0.50648	0.864000	0.30684	0.964000	0.29435	0.347000	0.25591	0.1362:0.1183:0.6235:0.122	4.917	0.13205	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1897.33	38	chr9	1056443	.	G	C	1897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.595;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.901;SOR=0.631	GT:AD:DP:GQ:PL	0/1:47,70:117:99:1911,0,1195	18	0	1	0
chr9	5832840	5832840	C	T	exonic	ERMP1	.	nonsynonymous SNV	ERMP1:NM_024896:exon1:c.G188A:p.G63D	.	435	1038	47	2	0	51	0.0239774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00439297	0.0159	0	0.0396	0	0.0526	0.0191	0.0172	0.0143	0.0043466	672	154602	rs62638713	0.0093	0.0090	0.0092	0.0094	0.0254	0.0092	0.0091	0.0217	0.0204	0.0016	0.0054	0.0009	3.25e-05	0.0047	0.0254	0.0100	0.0079	0.0121	0.0059	0.0059	0.0062	0.0056	0.0106	0.0056	0.0054	0.0089	0.0087	0.0017	0	0.0043	0.0014	0	0.0036	0.0171	0.0095	0.0066	0.0106	0.266	0.16251	T	0.69	0.05920	T	0.019	0.17989	B	0.01	0.14941	B	0.142589	0.18239	N	0.458821	0.999983	0.18198	N	0	0.06538	N	0.98	0.42122	T	-0.03	0.07444	N	0.183	0.19861	-1.0601	0.11731	T	0.019	0.07800	T	10	0.004243642	0.00085	T	.	.	.	0.021	0.04004	.	.	0.152612264143	0.14878	0.5784803817705325	0.57777	1.05125465116	0.76159	0.825586915016	0.85886	D	0.013723	0.11817	T	-0.604661	0.00136	T	-0.630299	0.10392	T	0.0105604246406136	0.00147	T	0.342666	0.07446	T	0.032854058	0.03392	0.061487466	0.11881	0.032854058	0.03391	0.061487466	0.11881	-5.847	0.44982	T	.	.	0.124	0.26106	B	.	.	1.773328	0.22548	15.67	0.98681839479498568	0.44624	0.40144	0.26371	N	ALL	0.041827	0.06411	N	-1.09074595480116	0.06812	0.314695	-1.08348989215683	0.08025	0.3928126	0.999999995902894	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.519653	0.09787	0	0.71	0.69187	0	.	.	3.39	-1.32	0.08721	-0.520000	0.06338	.	.	-0.375000	0.05424	0.719000	0.28811	0.000000	0.08366	0.007000	0.07825	0.2528:0.2195:0.4238:0.1039	2.659	0.04714	516	0.74704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019027	0.000000	0.014577	0.039877	0.050000	0.034483	0.019355	0.000000	0.1053	4328.41	40	chr9	5832840	.	C	T	4328.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.166;DP=805;ExcessHet=0.0101;FS=1.301;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.495;SOR=0.869	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2467,216,0	16	1	2	0
chr9	19126126	19126126	G	C	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon3:c.C214G:p.L72V	.	432	1037	46	7	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0048	0.00778754	0.0078	0.0007	0.0029	0	0.0003	0.0063	0.0100	0.0292	0.0069986	1082	154602	rs149124591	0.0049	0.0049	0.0040	0.0058	0.0279	0.0048	0.0048	0.0270	0.0266	0.0003	0.0032	0.0328	5.04e-05	0.0004	0.0206	0.0028	0.0072	0.0279	0.0039	0.0039	0.0037	0.0041	0.0269	0.0036	0.0035	0.0232	0.0218	0.0006	0	0.0041	0.0268	0	0.0003	0.0102	0.0039	0.0043	0.0269	0.003	0.78490	D	0.004	0.92824	D	0.974	0.57829	D	0.974	0.73157	D	0.001185	0.39899	N	0.221461	0.998758	0.45389	D	3.42	0.91902	M	2.47	0.14783	T	-2.37	0.61580	N	0.817	0.81261	-0.7969	0.55327	T	0.107	0.39051	T	10	0.010061443	0.00225	T	.	.	.	0.396	0.71084	.	.	0.659526208185	0.65667	0.7646046571490274	0.76409	0.252766109563	0.27842	0.538249135017	0.44198	T	0.349394	0.71725	T	-0.151012	0.28154	T	0.0305767	0.72315	D	0.0698357970993575	0.08628	T	0.978169	0.92312	D	0.2263921	0.45320	0.27991867	0.53964	0.2263921	0.45320	0.27991867	0.53963	-9.252	0.69305	D	.	.	0.193	0.46631	B	.;.;.;.	.;.;.;.	6.398484	0.95145	34	0.99827297879109511	0.90939	0.97207	0.73322	D	ALL	0.681205	0.64464	D	0.714991296709042	0.80615	7.333665	0.628639343559016	0.77029	6.601281	0.999999717361203	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.54	3.37	0.37692	5.688000	0.67889	4.196000	0.42436	-0.198000	0.09030	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.152:0.0:0.848:0.0	13.145	0.58873	681	0.59854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.017663	0.002924	0.050000	0.017241	0.021341	0.034091	0.1316	6749.37	33	chr9	19126126	.	G	C	6749.37	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.803;DP=1092;ExcessHet=1.3;FS=1.104;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.99;SOR=0.789	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1286,0,1406	14	0	5	0
chr9	35906598	35906598	A	T	exonic	HRCT1	.	nonsynonymous SNV	HRCT1:NM_001039792:exon1:c.A311T:p.H104L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00286382300621	.	.	0.0055	0.0009	0.0013	0.0004	0	0.0079	0.0076	0.0044	0.0020181	312	154602	rs58509439	0.0011	0.0014	0.0011	0.0011	0.0012	0.0010	0.0010	0.0011	0.0011	0.0001	0.0005	0.0009	0.0001	7.878e-05	0.0012	0.0012	0.0009	0.0010	0.0006	0.0009	0.0007	0.0006	0.0018	0.0005	0.0004	0.0007	0.0006	0.0003	0	0.0005	0	0	0	0	0.0010	0	0.0018	0.0	0.91255	D	0.001	0.83351	D	0.964	0.55854	D	0.608	0.51027	P	0.170857	0.17379	N	0.419028	1	0.08975	N	1.15	0.29295	L	.	.	.	-3.62	0.69593	D	0.305	0.34444	-1.0799	0.07368	T	0.056	0.23450	T	9	0.0047576427	0.00100	T	0.002864	0.06015	T	0.027	0.05988	.	.	0.210429274316	0.20668	0.336616425985248	0.33574	0.0268113151783	0.02741	0.420744180679	0.27939	T	0.023757	0.18078	T	-0.0996495	0.36481	T	-0.380916	0.35614	T	0.761682987213135	0.43948	D	0.19948	0.02241	T	0.3889613	0.59958	0.28785896	0.54799	0.3889613	0.59958	0.28785896	0.54798	-5.517	0.42027	T	.	.	0.142	0.31279	B	.	.	1.416878	0.18331	13.68	0.91816263336333315	0.21124	0.17005	0.19646	N	AEFDGBCI	0.045175	0.07357	N	-0.336870608573258	0.27757	1.525504	-0.47314737743647	0.22897	1.245933	0.999999830495576	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.375	0.06713	1	.	.	3.0	1.79	0.23992	0.975000	0.29046	-0.503000	0.08791	0.731000	0.85647	0.433000	0.26432	0.000000	0.08366	0.198000	0.21837	0.8574:0.0:0.1426:0.0	5.204	0.14606	420	0.81451	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	962.38	40	chr9	35906598	.	A	T	962.38	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.672;DP=710;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1878;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=-0.48;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,6:39:64:.:.:64,0,827:.	16	0	1	2
chr9	38424181	38424181	C	T	exonic	IGFBPL1	.	nonsynonymous SNV	IGFBPL1:NM_001007563:exon1:c.G244A:p.G82S	.	466	1053	3	0	0	3	0.00142248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.127639810993	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285537371	2.956e-06	7.525e-06	3.731e-06	2.089e-06	5.247e-05	7.9e-07	2.2e-07	.	.	0	0	0	0	0	0	1.138e-06	2.588e-05	5.247e-05	6.695e-06	6.602e-06	1.306e-05	0	2.429e-05	0	0	.	.	2.429e-05	0	0	0	0	0	0	0	0	0	0.565	0.06282	T	0.685	0.06014	T	1.0	0.90584	D	0.937	0.67262	D	0.021708	0.26779	U	0.170417	0.993721	0.23659	N	2.215	0.62545	M	0.46	0.56281	T	-0.49	0.15578	N	0.385	0.42639	-0.9381	0.42916	T	0.178	0.52396	T	10	0.38058144	0.54163	T	0.12764	0.80948	D	0.224	0.52174	0.34	0.33141	0.62988413793	0.62685	0.3237753357082125	0.32290	0.853889919278	0.68674	0.886510491371	0.94818	D	0.003491	0.02899	T	-0.0477019	0.44795	T	-0.306297	0.44056	T	0.931298315525055	0.59657	D	0.532447	0.17709	T	0.12677917	0.29686	0.079990454	0.18057	0.12677917	0.29686	0.079990454	0.18056	-5.984	0.46146	T	.	.	0.147	0.32372	B	.	.	3.358835	0.46366	22.3	0.9803862253866592	0.37774	0.31110	0.24254	N	AEFDBHCIJ	0.087198	0.17681	N	-0.275189982844951	0.30109	1.675883	-0.453975430907185	0.23436	1.27807	0.999999999143707	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	3.1	3.1	0.34780	2.140000	0.41783	4.107000	0.41897	0.487000	0.22268	0.277000	0.25113	0.999000	0.35428	0.002000	0.04165	0.0:1.0:0.0:0.0	11.667	0.50642	908	0.22609	Insulin-like growth factor-binding protein, IGFBP|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	.	.	.	.	.	.	.	.	0.02632	370.42	7	chr9	38424181	.	C	T	370.42	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.905;DP=269;ExcessHet=0;FS=4.867;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=0.847;SOR=1.93	GT:AD:DP:GQ:PL	0/1:7,12:19:99:384,0,198	18	0	1	0
chr9	69240073	69240073	C	T	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon17:c.C2504T:p.T835M,TJP2:NM_001170416:exon17:c.C2585T:p.T862M,TJP2:NM_001369872:exon17:c.C2492T:p.T831M,TJP2:NM_001369873:exon17:c.C2492T:p.T831M,TJP2:NM_001369874:exon17:c.C2504T:p.T835M,TJP2:NM_001369875:exon17:c.C2504T:p.T835M,TJP2:NM_004817:exon17:c.C2492T:p.T831M,TJP2:NM_201629:exon17:c.C2492T:p.T831M,TJP2:NM_001170414:exon18:c.C2423T:p.T808M,TJP2:NM_001369870:exon18:c.C2417T:p.T806M,TJP2:NM_001369871:exon19:c.C2423T:p.T808M	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0125202826174	.	.	2.478e-05	0	0	0	0	3.004e-05	0	6.081e-05	1.94e-05	3	154602	rs778708131	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0002	6.16e-06	4.89e-06	5.75e-06	4.55e-06	0	0	0	0	0	0.0002	1.079e-05	1.656e-05	1.159e-05	1.316e-05	1.314e-05	1.286e-05	1.348e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.017	0.51248	D	0.053	0.49663	T	0.999	0.77913	D	0.893	0.63340	P	0.723163	0.09917	N	0.892392	1	0.08975	N	1.845	0.48678	L	2.26	0.17596	T	-2.08	0.48020	N	0.205	0.30687	-1.0093	0.27136	T	0.103	0.38044	T	10	0.15801078	0.29724	T	0.01252	0.31165	T	0.125	0.34456	.	.	0.688906850009	0.68623	0.30044987490805425	0.29957	0.48447268662	0.47353	0.237017646432	0.02528	T	0.162208	0.50677	T	-0.275717	0.11127	T	-0.536971	0.18596	T	0.90440958738327	0.55786	D	0.973953	0.90669	D	0.04409277	0.06987	0.06432287	0.12875	0.04409277	0.06987	0.06432287	0.12874	-7.137	0.55610	T	0.2063529429695365	0.27553	0.079	0.08754	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.665939	0.52099	23.2	0.99848405610496993	0.92838	0.24899	0.22535	N	AEFBI	0.160539	0.28649	N	0.033450716303192	0.43383	2.632219	-0.0942789059526402	0.35627	2.063396	0.923503414612833	0.26746	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.04	0.67293	2.454000	0.44636	5.966000	0.51911	0.599000	0.40250	0.018000	0.19461	0.810000	0.27029	0.787000	0.37188	0.0:0.9329:0.0:0.0671	15.234	0.73106	988	0.01987	.;.;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1157.33	35	chr9	69240073	.	C	T	1157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.867;DP=700;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=0.407;SOR=0.717	GT:AD:DP:GQ:PL	0/1:24,42:66:99:1171,0,528	18	0	1	0
chr9	87923071	87923071	G	T	exonic	SPATA31C1	.	nonsynonymous SNV	SPATA31C1:NM_001145124:exon4:c.G3164T:p.S1055I	.	426	1045	48	3	0	54	0.0251866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00399361	0.0043	0.0003	0.0040	0	0.0006	0.0034	0.0067	0.0139	0.0035705	552	154602	rs376807700	0.0027	0.0027	0.0022	0.0032	0.0231	0.0026	0.0026	0.0199	0.0187	0.0002	0.0032	0.0112	0	0.0004	0.0231	0.0017	0.0043	0.0139	0.0022	0.0022	0.0020	0.0025	0.0143	0.0020	0.0019	0.0116	0.0106	0.0003	0	0.0037	0.0107	0	0.0002	0.0170	0.0022	0.0038	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018765	0.016949	0.012329	0.017699	0.100000	0.017544	0.023077	0.037190	0.05263	7131.83	45	chr9	87923071	.	G	T	7131.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.081;DP=1430;ExcessHet=0.119;FS=10.931;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=46.09;MQRankSum=-2.99;QD=15.01;ReadPosRankSum=-0.983;SOR=0.286	GT:AD:DP:GQ:PL	0/1:114,139:253:99:3592,0,2814	17	0	2	0
chr9	91724905	91724905	C	T	exonic	ROR2	.	nonsynonymous SNV	ROR2:NM_004560:exon9:c.G1589A:p.R530Q	Brachydactyly, type B1, Autosomal dominant;Robinow syndrome, autosomal recessive, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	268870	Brachydactyly_type_B1|not_provided|not_specified|Autosomal_recessive_Robinow_syndrome	MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000,Orphanet:572385,Orphanet:93383|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310,Orphanet:1507,Orphanet:97360	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.282	0.0636953884828	0.0016	0.00139776	0.0022	0.0007	0.0004	0	0.0009	0.0027	0.0011	0.0042	0.0021669	335	154602	rs35852786	0.0030	0.0030	0.0029	0.0030	0.0034	0.0029	0.0029	0.0033	0.0032	0.0005	0.0006	0.0017	5.058e-05	0.0010	0.0007	0.0034	0.0031	0.0034	0.0019	0.0019	0.0021	0.0017	0.0033	0.0017	0.0016	0.0027	0.0026	0.0006	0	0.0009	0.0023	0	0.0006	0	0.0031	0.0014	0.0033	0.021	0.49117	D	0.288	0.28032	T	0.398	0.34801	B	0.02	0.19048	B	0.001938	0.37643	N	0.000000	0.998811	0.49283	D	0.4	0.12274	N	-1.56	0.81815	D	0.93	0.01712	N	0.307	0.34659	-0.3796	0.72663	T	0.313	0.68300	T	10	0.01053378	0.00234	T	0.063695	0.69047	D	0.282	0.59981	.	.	0.911562725633	0.91067	0.3143042241298655	0.31343	0.242540841782	0.26761	0.44778418541	0.31641	T	0.196549	0.55297	T	-0.343682	0.05137	T	-0.268241	0.47998	T	0.0227618054649298	0.00996	T	0.917708	0.70849	D	0.41225776	0.61572	0.22330272	0.47204	0.36875328	0.58492	0.18215007	0.41122	-7.762	0.59437	D	0.12488082199287096	0.12325	0.087	0.24934	B	.;.	.;.	3.344857	0.46112	22.2	0.99789544571469324	0.87572	0.86014	0.45219	D	AEFDBCI	0.616086	0.60278	D	-0.13327597507739	0.35947	2.071469	-0.0297583570281042	0.38378	2.260173	0.99966080899414	0.41534	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	2.672000	0.46515	4.865000	0.45508	0.549000	0.26987	0.042000	0.21073	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.701	0.88202	814	0.42100	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3040.33	40	chr9	91724905	.	C	T	3040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=1023;ExcessHet=0;FS=1.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.772;SOR=0.592	GT:AD:DP:GQ:PL	0/1:110,110:220:99:3054,0,2645	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:202,137:362:99:665,0,3364	1	0	18	0
chr9	92318622	92318622	C	T	exonic	NOL8	.	nonsynonymous SNV	NOL8:NM_001330722:exon6:c.G482A:p.R161H,NOL8:NM_017948:exon6:c.G482A:p.R161H,NOL8:NM_001256394:exon7:c.G278A:p.R93H	.	476	1026	17	3	0	23	0.0110843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0046	0.00379393	0.0087	0.0017	0.0042	0	0.0100	0.0129	0.0117	0.0026	0.0073285	1133	154602	rs41277645	0.0076	0.0077	0.0077	0.0075	0.0105	0.0075	0.0074	0.0083	0.0083	0.0012	0.0046	0.0121	2.544e-05	0.0068	0.0105	0.0085	0.0077	0.0022	0.0061	0.0061	0.0061	0.0060	0.0090	0.0057	0.0056	0.0084	0.0081	0.0014	0.0417	0.0043	0.0141	0	0.0065	0.0068	0.0090	0.0095	0.0027	0.285	0.16793	T	0.393	0.22828	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	0.999294	0.21398	N	1.91	0.51138	L	2.49	0.44856	T	-1.2	0.41046	N	0.124	0.16028	-1.0449	0.15854	T	0.049	0.20947	T	9	0.0024565756	0.00037	T	.	.	.	0.013	0.01715	.	.	0.264547087235	0.26054	0.4168627501312173	0.41602	0.0630273627958	0.07016	0.245842188597	0.03343	T	0.00535	0.24182	T	-0.548503	0.00298	T	-0.551268	0.17205	T	0.0071528414580583	0.00082	T	0.106489	0.01237	T	0.030291647	0.02666	0.052772533	0.08761	0.030291647	0.02666	0.052772533	0.08760	-4.49	0.30757	T	.	.	0.077	0.09288	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.493128	0.19202	14.14	0.83054433844074205	0.14518	0.17030	0.19658	N	AEFBI	0.080389	0.16251	N	-1.06666239241809	0.07265	0.3369406	-0.973413847232161	0.10384	0.5226825	0.0982261939734063	0.16300	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	-1.93	0.07180	-0.110000	0.10794	-2.755000	0.03395	-0.908000	0.02283	0.353000	0.25784	0.000000	0.08366	0.975000	0.56047	0.0:0.3716:0.0:0.6284	12.651	0.56126	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	rs41277645	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008569	0.005051	0.010870	0.005882	0.050000	0.025862	0.009146	0.011364	0.05263	1831.83	33	chr9	92318622	.	C	T	1831.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.065;DP=747;ExcessHet=0.119;FS=0.58;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.48;SOR=0.634	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1062,0,877	17	0	2	0
chr9	96417663	96417680	CCGAGGCGGCGGCGGAGG	-	exonic	ZNF367	.	nonframeshift deletion	ZNF367:NM_153695:exon1:c.353_370del:p.A118_S123del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416499041	1.973e-05	2.477e-05	1.333e-05	2.673e-05	6.403e-05	1.202e-05	9.82e-06	8.79e-06	6.94e-06	5.567e-05	0	0	4.322e-05	0	0	1.648e-05	5.694e-05	6.403e-05	1.986e-05	2.628e-05	1.293e-05	2.714e-05	0.0002	5.28e-06	2.47e-06	.	.	0	0	6.59e-05	0	0.0002	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	56.39	7	chr9	96417662	.	CCCGAGGCGGCGGCGGAGG	C	56.39	.	AC=1;AF=0.029;AN=34;DP=148;ExcessHet=0;FS=5.441;InbreedingCoeff=-0.0491;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=8.06;SOR=0.027	GT:AD:DP:GQ:PL	0/1:5,2:7:69:69,0,204	16	0	1	2
chr9	104747833	104747833	C	T	exonic	NIPSNAP3A	.	nonsynonymous SNV	NIPSNAP3A:NM_001329570:exon1:c.C41T:p.S14L,NIPSNAP3A:NM_015469:exon1:c.C41T:p.S14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0403157675314	.	.	1.113e-05	0	0	0	0	0	0	7.134e-05	6.5e-06	1	154602	rs777014471	8.24e-06	9.577e-06	6.832e-06	9.663e-06	6.993e-05	4.39e-06	3.47e-06	3.008e-05	2.046e-05	0	0	0	0	0	0	4.501e-06	1.666e-05	6.993e-05	6.569e-06	6.567e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.158	0.23905	T	0.353	0.17320	T	0.008	0.14655	B	0.003	0.08700	B	0.435954	0.04732	N	1.340170	1	0.08975	N	0.55	0.14455	N	0.52	0.55266	T	-1.97	0.45587	N	0.193	0.21188	-1.0586	0.12108	T	0.113	0.40399	T	10	0.0994547	0.18049	T	0.040316	0.59308	D	0.105	0.29889	0.425	0.47021	0.621808498265	0.61874	0.534368866467319	0.53361	0.105121137339	0.11884	.	.	.	0.036894	0.24276	T	-0.227695	0.16956	T	-0.564845	0.15924	T	0.0717454239324717	0.08893	T	0.70113	0.31087	T	0.101647235	0.24012	0.1692262	0.38940	0.101647235	0.24012	0.1692262	0.38940	-4.846	0.35123	T	.	.	0.118	0.23952	B	.	.	1.731107	0.22032	15.45	0.89082254342188238	0.18496	0.19896	0.20837	N	ALL	0.051968	0.09233	N	-0.777264475397609	0.13904	0.6884362	-0.770652356519111	0.15215	0.7991219	0.999999999999675	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.56	3.56	0.39892	1.222000	0.32119	0.120000	0.14904	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	10.945	0.46506	936	0.14734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	829.33	40	chr9	104747833	.	C	T	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.332;DP=716;ExcessHet=0;FS=0.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.87;SOR=0.569	GT:AD:DP:GQ:PL	0/1:28,34:62:99:843,0,673	18	0	1	0
chr9	106929561	106929561	C	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_021224:exon3:c.C5649A:p.N1883K	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0103805904792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.40573	T	0.004	0.74150	D	0.003	0.11197	B	0.008	0.13708	B	0.033129	0.24937	N	0.513154	0.997091	0.22793	N	0	0.06538	N	3.56	0.04696	T	-0.6	0.24460	N	0.157	0.23884	-0.7194	0.59493	T	0.007	0.02282	T	10	0.06765589	0.09458	T	0.010381	0.26850	T	0.019	0.03383	0.466	0.53729	0.043077524339	0.03247	0.11621260306896317	0.11549	0.911059692479	0.71063	0.297051101923	0.09962	T	0.010004	0.09071	T	-0.354175	0.04470	T	-0.746524	0.03623	T	0.165568358927153	0.18274	T	0.848915	0.55036	T	0.093263276	0.21901	0.07905892	0.17766	0.093263276	0.21901	0.07905892	0.17765	-2.816	0.08332	T	.	.	0.242	0.47622	B	.;.;.	.;.;.	1.784308	0.22686	15.72	0.97559774606356897	0.34615	0.71924	0.35225	D	AEFDBIJ	0.353626	0.44598	N	-0.774592647759506	0.13975	0.6924407	-0.650412773512267	0.18206	0.9715739	0.99998377511937	0.51787	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.674467	0.66132	0	.	.	5.92	2.76	0.31527	0.166000	0.16400	-1.342000	0.05670	0.599000	0.40250	0.061000	0.21800	0.000000	0.08366	0.998000	0.85391	0.0:0.5941:0.0:0.4059	6.846	0.23169	672	0.60758	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2939.33	39	chr9	106929561	.	C	A	2939.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.49;DP=847;ExcessHet=0;FS=1.848;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.7;ReadPosRankSum=1.01;SOR=0.606	GT:AD:DP:GQ:PL	0/1:83,93:176:99:2953,0,2126	18	0	1	0
chr9	112889975	112889975	G	C	exonic	SLC46A2	.	nonsynonymous SNV	SLC46A2:NM_033051:exon1:c.C707G:p.P236R	.	426	1055	40	1	0	42	0.0195167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	0.0074	0.00758786	0.0092	0.0016	0.0018	0	0.0029	0.0096	0.0077	0.0253	0.0088421	1367	154602	rs76734829	0.0089	0.0089	0.0084	0.0094	0.0239	0.0088	0.0087	0.0230	0.0227	0.0021	0.0041	0.0418	5.038e-05	0.0028	0.0151	0.0078	0.0103	0.0239	0.0063	0.0063	0.0063	0.0062	0.0199	0.0059	0.0058	0.0167	0.0155	0.0015	0.0099	0.0046	0.0415	0	0.0033	0.0272	0.0076	0.0066	0.0199	0.004	0.65419	D	0.28	0.21678	T	0.81	0.45366	P	0.444	0.45865	B	0.069099	0.02229	N	1.881900	0.99999	0.08975	N	2.34	0.67151	M	0.46	0.56281	T	-1.22	0.30964	N	0.169	0.17966	-0.8228	0.53758	T	0.177	0.52162	T	10	0.0033922493	0.00059	T	.	.	.	0.230	0.53062	.	.	0.540243489925	0.53678	0.12715950132660506	0.12641	0.468673283534	0.46202	0.242468670011	0.03017	T	0.112379	0.42861	T	-0.573071	0.00212	T	-0.577029	0.14811	T	0.0359413295167165	0.02971	T	0.535646	0.17968	T	0.13351344	0.31052	0.18895271	0.42214	0.13351344	0.31052	0.18895271	0.42213	-4.343	0.28775	T	.	.	0.082	0.08802	B	.	.	1.928125	0.24491	16.42	0.99191876508663335	0.54994	0.58164	0.30569	D	AEFDBCI	0.159025	0.28476	N	-0.148368715681936	0.35304	2.026128	-0.22074679925948	0.30792	1.736893	0.99999991824512	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	1.145000	0.31189	6.524000	0.55840	0.675000	0.71128	0.348000	0.25742	1.000000	0.68203	0.068000	0.16518	0.0:0.0:1.0:0.0	16.145	0.81374	661	0.61838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.025253	0.032609	0.023392	0.000000	0.008621	0.018293	0.011364	0.02632	1651.33	33	chr9	112889975	.	G	C	1651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=742;ExcessHet=0;FS=4.372;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.617;SOR=0.415	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1665,0,1496	18	0	1	0
chr9	113043734	113043734	C	T	exonic	ZFP37	.	nonsynonymous SNV	ZFP37:NM_001282515:exon4:c.G929A:p.C310Y,ZFP37:NM_001282518:exon4:c.G887A:p.C296Y,ZFP37:NM_003408:exon4:c.G884A:p.C295Y	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.0259686947664	.	0.000599042	0.0002	0	0.0004	0	0	8.992e-05	0	0.0007	0.0001682	26	154602	rs201541582	9.372e-05	9.371e-05	6.807e-05	0.0001	0.0010	8.093e-05	7.585e-05	0.0008	0.0008	5.974e-05	0.0003	0	0	0	0.0009	2.698e-05	0	0.0010	0.0001	0.0001	6.426e-05	0.0001	0.0010	6.509e-05	5.321e-05	0.0004	0.0003	0	0	0.0003	0	0	0	0	8.824e-05	0.0005	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000199	0.48115	D	0.000000	0.999854	0.49910	D	2.58	0.75369	M	0.34	0.58176	T	-10.07	0.98905	D	0.681	0.84298	-0.1513	0.78884	T	0.382	0.73832	T	10	0.38419423	0.54418	T	0.025969	0.48910	D	0.558	0.81831	.	.	0.832456107973	0.83086	0.3301878729901898	0.32931	0.579052114772	0.53792	0.725376009941	0.70832	T	0.39031	0.75052	T	0.0613229	0.59780	T	0.242505	0.85266	D	0.964952170848846	0.67117	D	0.0906909	0.00671	T	0.9211865	0.93363	0.88615096	0.93995	0.9211865	0.93364	0.88615096	0.93995	-11.899	0.86319	D	.	.	0.524	0.68929	A	.;.;.	.;.;.	4.741747	0.76480	26.5	0.99612186855638818	0.74873	0.01988	0.06004	N	AEFBHCI	0.788422	0.71791	D	0.773538402752477	0.84428	8.284777	0.671824135057036	0.80246	7.256208	0.999995564025946	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.23	4.23	0.49319	7.666000	0.82835	5.933000	0.51351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	14.916	0.70446	861	0.33516	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	2027.33	37	chr9	113043734	.	C	T	2027.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.93;DP=777;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.197;SOR=0.797	GT:AD:DP:GQ:PL	0/1:75,77:152:99:2041,0,1983	18	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:169,48:229:99:.:.:126,0,3256:.	4	0	13	2
chr9	115086112	115086112	C	A	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon3:c.G1619T:p.G540V	Deafness, autosomal dominant 56, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.720	0.0376669820133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-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	0.001	0.83351	D	0.0	0.90584	B	0.002	0.97372	B	0.000000	0.84330	D	0.000000	1	0.81001	D	4	0.96753	H	-1.99	0.85320	D	-7.56	0.96395	D	0.889	0.95956	0.925	0.96024	D	0.865	0.95519	D	10	0.99274236	0.99810	D	0.037667	0.57756	D	0.720	0.90101	0.836	0.94356	0.853756794806	0.85234	0.8637948982889296	0.86343	0.744022850646	0.63417	0.5134152174	0.40700	T	0.85413	0.96706	D	0.460126	0.92932	D	0.423163	0.92844	D	0.987529127207914	0.78003	D	0.956104	0.83363	D	0.9814649	0.99220	0.96238726	0.99098	0.9814649	0.99220	0.96238726	0.99098	-15.897	0.97602	D	0.6089105668722066	0.67637	0.853	0.84574	P	.;.;.;.;.;.	.;.;.;.;.;.	3.569333	0.50261	22.9	0.99752125889939947	0.84382	0.98593	0.84474	D	AEFBCI	0.954550	0.97174	D	0.604022915345728	0.73430	5.964618	0.555107246138679	0.71752	5.70316	1.0	0.98316	0.632932	0.41330	0	0.573888	0.26702	0	0.601832	0.32385	0	0.564101	0.26826	0	.	.	5.95	5.95	0.96415	7.848000	0.85199	6.000000	0.52472	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.063000	0.16184	0.0:1.0:0.0:0.0	20.380	0.98930	551	0.72115	EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;.;EGF-like domain, extracellular|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2298.33	158	chr9	115086112	.	C	A	2298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=1861;ExcessHet=0;FS=1.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.58;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,81:177:99:0|1:115086112_C_A:2312,0,2597:115086112	18	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.4	10786.3	429	chr9	122724732	.	T	C	10786.3	.	AC=12;AF=0.4;AN=30;BaseQRankSum=7.47;DP=5828;ExcessHet=11.1788;FS=27.147;InbreedingCoeff=-0.5846;MLEAC=14;MLEAF=0.467;MQ=58.23;MQRankSum=-15.38;QD=2.81;ReadPosRankSum=-6.896;SOR=4.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,49:302:99:0|1:122724732_T_C:1213,0,10409:122724732	3	0	12	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	7435.64	407	chr9	122724738	.	T	C	7435.64	.	AC=12;AF=0.375;AN=32;BaseQRankSum=2.09;DP=4871;ExcessHet=11.1788;FS=31.668;InbreedingCoeff=-0.551;MLEAC=13;MLEAF=0.406;MQ=58.35;MQRankSum=-16.61;QD=2.04;ReadPosRankSum=-6.486;SOR=5.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:248,39:287:99:0|1:122724732_T_C:891,0,10235:122724732	4	0	12	3
chr9	125220573	125220573	C	-	exonic	RABEPK	.	frameshift deletion	RABEPK:NM_001174153:exon5:c.246delC:p.P84Hfs*44,RABEPK:NM_005833:exon5:c.399delC:p.P135Hfs*44,RABEPK:NM_001174152:exon6:c.399delC:p.P135Hfs*44	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00239617	0.0042	0.0011	0.0043	0	0.0009	0.0055	0.0022	0.0042	0.0011526	30	26028	rs546948946	0.0057	0.0057	0.0056	0.0059	0.0125	0.0056	0.0056	0.0102	0.0093	0.0010	0.0046	0.0039	2.519e-05	0.0008	0.0125	0.0064	0.0069	0.0040	0.0037	0.0037	0.0042	0.0031	0.0064	0.0034	0.0033	0.0059	0.0057	0.0009	0	0.0030	0.0035	0.0002	0.0003	0.0136	0.0064	0.0062	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010070	0.020202	0.010870	0.008772	0.000000	0.008621	0.006098	0.003788	0.02632	2161.29	37	chr9	125220572	.	GC	G	2161.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.207;DP=861;ExcessHet=0;FS=0.613;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.134;SOR=0.636	GT:AD:DP:GQ:PL	0/1:63,82:145:99:2175,0,1563	18	0	1	0
chr9	127707145	127707145	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G114C:p.K38N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0141487804833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.01	0.65728	D	0.968	0.56581	D	0.79	0.57710	P	0.039025	0.24217	N	0.404824	0.928062	0.27129	N	.	.	.	0.97	0.42502	T	-3.18	0.64478	D	0.231	0.25989	-0.9529	0.40468	T	0.124	0.42799	T	10	0.20483169	0.36688	T	0.014149	0.34071	T	0.051	0.14325	0.205	0.12076	0.352476196916	0.34857	0.5839401287200625	0.58323	0.440069081721	0.44022	.	.	.	0.276118	0.64869	T	-0.280823	0.10581	T	-0.641159	0.09584	T	0.847960948944092	0.49990	D	0.612539	0.23323	T	0.19740249	0.41603	0.14692236	0.34791	0.19740249	0.41603	0.14692236	0.34790	-11.355	0.81569	D	.	.	0.662	0.71411	P	.;.	.;.	2.593801	0.33655	19.40	0.9961891825752538	0.75293	0.24477	0.22406	N	AEFDGBCI	0.101029	0.20301	N	-0.182420340231527	0.33867	1.926345	-0.347634602073133	0.26583	1.469229	0.999985991372221	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	-0.0785	0.13048	0.297000	0.18856	0.054000	0.14040	0.649000	0.52879	0.541000	0.27275	0.449000	0.24943	0.445000	0.27784	0.3326:0.2731:0.3943:0.0	4.776	0.12549	268	0.89479	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	726.55	34	chr9	127707145	.	G	C	726.55	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.952;DP=983;ExcessHet=0.7564;FS=137.824;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=2.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,27:94:99:0|1:127707145_G_C:257,0,2398:127707145	17	0	2	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,41:87:99:0|1:127707145_G_C:616,0,523:127707145	5	0	12	2
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	1826.47	51	chr9	127707149	.	T	C	1826.47	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.879;DP=1323;ExcessHet=2.9153;FS=164.549;InbreedingCoeff=-0.2807;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.37;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,27:94:99:0|1:127707145_G_C:257,0,2398:127707145	10	0	7	2
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	1618.24	51	chr9	127707150	.	T	C	1618.24	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.516;DP=1273;ExcessHet=1.3;FS=159.969;InbreedingCoeff=-0.1413;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=3.56;ReadPosRankSum=0.952;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,27:94:99:0|1:127707145_G_C:257,0,2398:127707145	14	0	5	0
chr9	131554910	131554910	G	T	exonic	PRRT1B	.	nonsynonymous SNV	PRRT1B:NM_001365666:exon2:c.G394T:p.V132L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1795727	0.33099	T	.	.	.	.	.	.	.	.	.	0.16453799983381115	0.16373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.50095	0.15685	T	0.062251072	0.12982	0.2152951	0.46112	0.062251072	0.12981	0.2152951	0.46111	-3.29	0.13608	T	.	.	0.193	0.41341	B	.	.	1.461794	0.18842	13.96	0.87753345865653731	0.17456	0.11366	0.16586	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998598066339038	0.37268	0.11394	0.02926	0	0.060609	0.00678	0	0.125351	0.03401	0	0.109499	0.03221	0	0.0680738	0.16110	4.35	0.875	0.18266	0.379000	0.20315	1.186000	0.24731	0.490000	0.22344	0.007000	0.17678	0.544000	0.25431	0.718000	0.34707	0.333:0.0:0.667:0.0	8.564	0.32688	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	32.53	.	chr9	131554910	.	G	T	32.53	.	AC=2;AF=0.059;AN=34;DP=48;ExcessHet=0;FS=0;InbreedingCoeff=0.2742;MLEAC=1;MLEAF=0.029;MQ=60;QD=16.26;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	16	1	0	2
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.1471	639.25	27	chr9	133208141	.	T	A	639.25	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.043;DP=366;ExcessHet=1.3;FS=0.892;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.147;MQ=56.82;MQRankSum=-4.721;QD=5.07;ReadPosRankSum=-0.827;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,2:19:24:.:.:24,0,501:.	12	0	5	2
chr9	134812612	134812612	C	T	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon48:c.C3752T:p.P1251L,COL5A1:NM_001278074:exon48:c.C3752T:p.P1251L	Ehlers-Danlos syndrome, classic type, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	YES	2855105	Ehlers-Danlos_syndrome,_classic_type,_1	MONDO:MONDO:0019567,MedGen:C0268335,OMIM:130000	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.654	0.362875393208	.	.	2.674e-05	0	0	0	0	0	0.0018	8.13e-05	1.29e-05	2	154602	rs755735075	1.857e-05	1.984e-05	8.206e-06	2.907e-05	0.0002	1.272e-05	1.09e-05	0.0001	0.0001	0	2.307e-05	0	2.532e-05	0	0	5.416e-06	1.665e-05	0.0002	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	7.304e-05	3.034e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	0.13	0.26740	T	0.095	0.39799	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.305	0.65957	M	-4.09	0.96627	D	-7.5	0.95045	D	0.67	0.67822	1.071	0.98631	D	0.933	0.97802	D	10	0.8791025	0.87213	D	0.362875	0.92556	D	0.654	0.86986	0.324	0.30549	0.801228684253	0.79937	0.41151256553187743	0.41067	0.302089110353	0.32540	0.843083322048	0.88565	D	0.697275	0.91251	D	0.000441447	0.51716	T	0.0563447	0.74002	D	0.558084559789869	0.34783	D	0.943406	0.80045	D	0.32978743	0.55453	0.25372177	0.51025	0.32978743	0.55453	0.25372177	0.51024	-12.982	0.89289	D	0.6392461936081676	0.70971	0.459	0.62631	A	.;.	.;.	4.601334	0.72877	25.9	0.98695683897335706	0.44823	0.99075	0.90859	D	AEFDGBI	0.869509	0.79008	D	0.630626682580786	0.75119	6.250222	0.521934149206887	0.69470	5.36475	0.999999999999996	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.78367	0.99111	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	7.489000	0.80266	7.416000	0.58680	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.350000	0.25659	0.0:1.0:0.0:0.0	17.782	0.88436	836	0.38045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002523	0.000000	0.004087	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2414.33	35	chr9	134812612	.	C	T	2414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=1099;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.663;SOR=0.626	GT:AD:DP:GQ:PL	0/1:104,96:200:99:2428,0,2423	18	0	1	0
chr9	136475554	136475554	T	G	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon2:c.A2062C:p.M688L,SEC16A:NM_014866:exon3:c.A2062C:p.M688L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00336226979143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	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	0.129203	0.02794	N	1.805300	1	0.08975	N	.	.	.	2.1	0.19990	T	-0.2	0.10656	N	0.099	0.12770	-1.0115	0.26447	T	0.018	0.07376	T	10	0.028270632	0.00961	T	0.003362	0.07512	T	0.009	0.00846	0.144	0.04746	0.110392049598	0.10638	0.04749892813153255	0.04692	0.0611846074872	0.06807	0.296141773462	0.09827	T	0.003315	0.02718	T	-0.403136	0.02208	T	-0.816853	0.01517	T	0.014767016246218	0.00309	T	0.364964	0.08742	T	0.031880695	0.03110	0.036574483	0.03131	0.031880695	0.03110	0.036574483	0.03131	-1.107	0.01126	T	.	.	0.092	0.14933	B	.;.;.;.	.;.;.;.	-1.284765	0.00451	0.009	0.26816328323083422	0.01302	0.11462	0.16650	N	AEFDGBHCI	0.041978	0.06454	N	-2.14419032524115	0.00102	0.004372314	-2.20730124181141	0.00108	0.004740003	0.999999999993389	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.7	-9.41	0.00518	-1.698000	0.02009	-1.749000	0.04797	-1.808000	0.00615	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0793:0.0988:0.3215:0.5004	5.966	0.18561	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1240.33	33	chr9	136475554	.	T	G	1240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=1122;ExcessHet=0;FS=1.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.531;SOR=0.61	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1254,0,1467	18	0	1	0
chr9	137012538	137012538	C	T	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon32:c.G5134A:p.G1712S,ABCA2:NM_212533:exon32:c.G5224A:p.G1742S	.	395	1118	9	0	0	9	0.00400891	.	.	.	1196041	ABCA2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.449	0.231153726753	0.0036	0.00119808	0.0036	0.0010	0.0006	0.0001	0.0046	0.0050	0.0057	0.0030	0.0033635	520	154602	rs149871834	0.0046	0.0046	0.0046	0.0046	0.0053	0.0045	0.0045	0.0052	0.0051	0.0006	0.0007	0.0008	0	0.0043	0.0009	0.0053	0.0044	0.0030	0.0032	0.0032	0.0033	0.0030	0.0052	0.0029	0.0028	0.0047	0.0045	0.0010	0	0.0019	0.0009	0.0002	0.0037	0	0.0052	0.0033	0.0023	0.568	0.06223	T	0.397	0.15157	T	1.0	0.90584	D	1.0	0.97372	D	0.719432	0.09947	N	0.861006	1	0.81001	D	1.79	0.46772	L	-2.19	0.86815	D	-0.86	0.23372	N	0.804	0.79986	-0.8205	0.53902	T	0.170	0.51036	T	10	0.037586868	0.02122	T	0.231154	0.88263	D	0.449	0.75004	.	.	0.817233481088	0.81551	0.9452691304938543	0.94508	1.69315442558	0.90169	0.63660800457	0.58082	T	0.310158	0.68213	T	-0.207665	0.19710	T	-0.0684612	0.65736	T	0.0734686114453142	0.09130	T	0.919908	0.71037	D	0.1047209	0.24756	0.14399126	0.34201	0.1047209	0.24756	0.14399126	0.34200	-6.922	0.53462	T	.	.	0.127	0.34819	B	.;.;.;.	.;.;.;.	3.893541	0.56671	23.8	0.9850622526228987	0.42276	0.99340	0.94730	D	AEFGBI	0.880767	0.80763	D	0.0287531230249203	0.43166	2.614916	0.0120461416031422	0.40272	2.40086	0.999999988998784	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	7.087000	0.76559	7.274000	0.58000	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:1.0:0.0:0.0	16.677	0.85139	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	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	1238.33	54	chr9	137012538	.	C	T	1238.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.398;DP=925;ExcessHet=0;FS=3.303;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=1.86;SOR=0.575	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1252,0,2201	18	0	1	0
chr9	137021564	137021564	G	A	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon8:c.C725T:p.P242L,ABCA2:NM_212533:exon8:c.C815T:p.P272L	.	416	1100	6	0	0	6	0.00271985	.	.	.	723481	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.158	0.0762435017494	0.0006	0.000199681	0.0016	0.0004	0	0	0	0.0014	0.0036	0.0029	0.000511	79	154602	rs199537832	0.0008	0.0008	0.0008	0.0009	0.0019	0.0008	0.0008	0.0017	0.0016	0.0002	0.0001	0	0	6.085e-05	0.0004	0.0009	0.0007	0.0019	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0008	0.0008	0.0004	0	6.537e-05	0	0.0002	0	0	0.0010	0.0009	0.0017	0.077	0.34444	T	0.291	0.20944	T	0.254	0.31272	B	0.011	0.15521	B	0.000027	0.00348	N	264.128000	1	0.08975	N	1.39	0.34934	L	-2.13	0.86349	D	0.19	0.04947	N	0.29	0.36359	-0.6313	0.63515	T	0.372	0.73121	T	10	0.0091997385	0.00208	T	0.076244	0.72484	D	0.158	0.41098	.	.	0.239312915715	0.23560	0.4197268774209651	0.41888	0.121704025482	0.13713	0.579348921776	0.49994	T	0.260379	0.63175	T	-0.407252	0.02073	T	-0.364242	0.37560	T	0.00804406218230724	0.00095	T	0.772023	0.40277	T	0.060355436	0.12375	0.052136425	0.08529	0.060355436	0.12375	0.052136425	0.08528	-2.314	0.04661	T	.	.	0.117	0.25462	B	.;.;.;.	.;.;.;.	1.458203	0.18805	13.93	0.39246825666287061	0.02696	0.13346	0.17804	N	AEFDGBHC	0.177712	0.30496	N	-1.07206028819892	0.07161	0.3318688	-1.08514535174824	0.07991	0.3910546	0.999990036133541	0.74766	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.62	1.57	0.22490	0.251000	0.18025	1.529000	0.27146	0.593000	0.32247	0.008000	0.17931	0.850000	0.27382	0.002000	0.04165	0.118:0.6224:0.2596:0.0	8.550	0.32607	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	.	.	.	.	.	.	.	.	0.02632	1100.33	33	chr9	137021564	.	G	A	1100.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=728;ExcessHet=0;FS=1.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.645;SOR=0.949	GT:AD:DP:GQ:PL	0/1:55,43:98:99:1114,0,1259	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:108,35:143:99:104,0,1825	2	0	17	0
chr10	4968379	4968379	C	T	exonic	AKR1C1	.	nonsynonymous SNV	AKR1C1:NM_001353:exon4:c.C440T:p.T147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00219649	0.0029	0	0.0013	0.0257	0	5.079e-05	0	0.0009	0.0005379	14	26028	rs540512862	0.0004	0.0004	0.0004	0.0004	0.0114	0.0004	0.0004	0.0105	0.0102	3.054e-05	4.729e-05	0	0.0114	1.917e-05	0	5.751e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	0.0119	0.0004	0.0004	0.0095	0.0086	2.43e-05	0	6.596e-05	0	0.0119	0	0	7.377e-05	0	0.0009	0.02	0.50676	D	0.014	0.62352	D	0.895	0.49247	P	0.673	0.53214	P	0.000004	0.62929	D	0.000000	0.99951	0.21065	N	2.64	0.77224	M	1.83	0.24841	T	-4.84	0.81269	D	0.513	0.54845	-1.0474	0.15130	T	0.094	0.35658	T	10	0.015684009	0.00329	T	.	.	.	0.146	0.38789	.	.	0.209622950755	0.20551	0.5882898614366775	0.58758	0.194642975609	0.21805	.	.	.	0.142634	0.47832	T	-0.406901	0.02084	T	-0.344938	0.39784	T	0.168300464092724	0.18464	T	0.824917	0.48720	T	0.7257572	0.79484	0.55509424	0.74268	0.7257572	0.79485	0.55509424	0.74268	-7.683	0.58889	D	.	.	0.527	0.69832	A	.;.	.;.	2.514699	0.32483	19.06	0.97568028460474721	0.34664	0.61711	0.31565	D	AEFDBI	0.328539	0.42917	N	-0.0612525697599888	0.39100	2.300525	-0.252027765433772	0.29701	1.666184	0.999800876762638	0.43304	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	2.63	1.7	0.23359	3.968000	0.56516	-0.569000	0.08436	0.449000	0.21268	0.994000	0.38300	0.000000	0.08366	0.161000	0.20682	0.0:0.8541:0.0:0.1459	7.223	0.25175	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase 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	0.000578	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1147.33	45	chr10	4968379	.	C	T	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=6.06;DP=747;ExcessHet=0;FS=2.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.07;MQRankSum=-1.559;QD=14.16;ReadPosRankSum=0.307;SOR=0.424	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,39:81:99:0|1:4968379_C_T:1161,0,1102:4968379	18	0	1	0
chr10	5730957	5730957	A	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_017782:exon11:c.A958T:p.T320S,TASOR2:NM_001321783:exon12:c.A958T:p.T320S,TASOR2:NM_001321784:exon12:c.A958T:p.T320S,TASOR2:NM_001321785:exon12:c.A958T:p.T320S	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0041	0.0181709	0.0108	0.0012	0.0032	0.0285	0.0026	0.0049	0.0167	0.0393	0.0101357	1567	154602	rs75514089	0.0077	0.0077	0.0069	0.0085	0.0354	0.0076	0.0075	0.0344	0.0339	0.0010	0.0032	0.0021	0.0269	0.0040	0.0239	0.0055	0.0077	0.0354	0.0061	0.0061	0.0054	0.0069	0.0447	0.0058	0.0057	0.0399	0.0380	0.0009	0	0.0071	0.0017	0.0297	0.0034	0.0408	0.0049	0.0137	0.0447	0.025	0.47320	D	0.233	0.24913	T	0.908	0.50127	P	0.265	0.39681	B	0.053535	0.22801	N	0.412660	0.995455	0.23286	N	2.05	0.56469	M	3.37	0.05847	T	-1.63	0.39119	N	0.042	0.01498	-0.9833	0.34234	T	0.007	0.02244	T	10	0.002374202	0.00035	T	.	.	.	0.048	0.13305	0.17	0.07536	.	.	0.18643416496702264	0.18561	0.112515022476	0.12700	0.331965386868	0.15231	T	0.043159	0.26414	T	-0.582292	0.00187	T	-0.581335	0.14426	T	0.0185138360721952	0.00567	T	0.689931	0.29934	T	0.069741756	0.15305	0.07706346	0.17132	0.069741756	0.15304	0.07706346	0.17132	-3.456	0.15821	T	.	.	0.164	0.36174	B	.;.	.;.	0.972512	0.13494	10.02	0.98068335027966003	0.38007	0.44859	0.27411	N	AEFBI	0.100182	0.20150	N	-0.0319300939089918	0.40413	2.399544	-0.0686356647124625	0.36694	2.138806	0.300915206058487	0.19188	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.68	3.25	0.36363	0.227000	0.17575	3.239000	0.36954	0.756000	0.94297	0.001000	0.13787	0.985000	0.30750	0.965000	0.52897	0.6742:0.1604:0.1654:0.0	4.811	0.12710	656	0.62345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.02632	2147.33	35	chr10	5730957	.	A	T	2147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.315;DP=781;ExcessHet=0;FS=1.507;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=-0.957;SOR=0.537	GT:AD:DP:GQ:PL	0/1:48,74:122:99:2161,0,1277	18	0	1	0
chr10	5747455	5747455	T	G	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.T3791G:p.V1264G,TASOR2:NM_017782:exon15:c.T4034G:p.V1345G,TASOR2:NM_001321783:exon16:c.T4034G:p.V1345G,TASOR2:NM_001321784:exon16:c.T4034G:p.V1345G	.	437	1066	19	0	0	19	0.0088331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0041	0.0181709	0.0108	0.0012	0.0032	0.0285	0.0026	0.0049	0.0167	0.0394	0.0101486	1569	154602	rs76183460	0.0077	0.0077	0.0069	0.0086	0.0355	0.0076	0.0075	0.0344	0.0340	0.0010	0.0032	0.0021	0.0270	0.0040	0.0238	0.0055	0.0077	0.0355	0.0061	0.0061	0.0054	0.0069	0.0449	0.0058	0.0057	0.0400	0.0382	0.0009	0	0.0072	0.0017	0.0297	0.0034	0.0408	0.0049	0.0142	0.0449	0.0	0.91255	D	0.002	0.79402	D	0.099	0.25639	B	0.025	0.20508	B	0.593460	0.11027	N	0.776677	0.999996	0.08975	N	1.59	0.40313	L	3.27	0.06602	T	-2.18	0.49187	N	0.089	0.06720	-0.9771	0.35660	T	0.007	0.02244	T	10	0.002009362	0.00028	T	.	.	.	0.026	0.05648	.	.	.	.	0.25456966302251127	0.25370	0.100852803616	0.11398	0.278777122498	0.07323	T	0.003533	0.02940	T	-0.566507	0.00232	T	-0.558662	0.16503	T	0.0173739857580772	0.00475	T	0.256074	0.03980	T	0.13050285	0.30450	0.11904356	0.28735	0.13050285	0.30449	0.11904356	0.28734	-3.872	0.21884	T	.	.	0.158	0.35013	B	.;.	.;.	0.958982	0.13353	9.858	0.96301975793306172	0.29351	0.24839	0.22517	N	AEFBCI	0.044183	0.07077	N	-0.875814062018446	0.11420	0.5510038	-0.931147095918016	0.11361	0.5783042	0.992903656263109	0.33012	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.34	1.87	0.24559	0.021000	0.13381	0.249000	0.16404	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2623:0.0:0.7377	5.724	0.17272	548	0.72362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.02632	1233.33	41	chr10	5747455	.	T	G	1233.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.8;DP=1694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.062;SOR=0.664	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1247,0,1362	18	0	1	0
chr10	5748766	5748766	C	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.C5102T:p.T1701I,TASOR2:NM_017782:exon15:c.C5345T:p.T1782I,TASOR2:NM_001321783:exon16:c.C5345T:p.T1782I,TASOR2:NM_001321784:exon16:c.C5345T:p.T1782I	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0043	0.0179712	0.0107	0.0012	0.0032	0.0280	0.0026	0.0049	0.0167	0.0388	0.010181	1574	154602	rs11593253	0.0077	0.0077	0.0068	0.0085	0.0351	0.0075	0.0075	0.0341	0.0336	0.0010	0.0032	0.0021	0.0266	0.0040	0.0239	0.0055	0.0077	0.0351	0.0061	0.0061	0.0054	0.0068	0.0446	0.0057	0.0056	0.0397	0.0378	0.0009	0	0.0071	0.0017	0.0288	0.0034	0.0408	0.0049	0.0137	0.0446	0.018	0.50676	D	0.063	0.45110	T	0.244	0.31025	B	0.047	0.24832	B	0.098691	0.02526	N	1.815620	1	0.08975	N	1.245	0.31408	L	3.62	0.04399	T	-1.22	0.30964	N	0.077	0.05162	-0.9686	0.37489	T	0.004	0.01400	T	10	0.0025873482	0.00039	T	.	.	.	0.031	0.07369	.	.	.	.	0.13360966107473615	0.13284	0.0466299950202	0.05070	0.256282418966	0.04458	T	0.003556	0.02960	T	-0.663613	0.00060	T	-0.69885	0.05888	T	0.00554423586375245	0.00060	T	0.506949	0.16072	T	0.0592729	0.12027	0.057171863	0.10345	0.0592729	0.12027	0.057171863	0.10345	-4.004	0.23864	T	.	.	0.125	0.38281	B	.;.	.;.	1.089395	0.14728	11.28	0.97467160101788519	0.34115	0.15034	0.18711	N	ALL	0.049726	0.08621	N	-0.824205188460949	0.12693	0.6203526	-0.840277522186012	0.13521	0.7018809	0.999999224801115	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.83	2.88	0.32617	0.209000	0.17231	1.134000	0.24350	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.1787:0.6488:0.1725:0.0	8.255	0.30908	543	0.72751	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.02632	1294.33	56	chr10	5748766	.	C	T	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=818;ExcessHet=0;FS=3.061;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.683;SOR=1.105	GT:AD:DP:GQ:PL	0/1:35,43:78:99:1308,0,1002	18	0	1	0
chr10	15213169	15213169	T	G	exonic	FAM171A1	.	nonsynonymous SNV	FAM171A1:NM_001010924:exon8:c.A2419C:p.T807P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0130521121698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.005	0.72224	D	0.773	0.44016	P	0.503	0.47728	P	0.000001	0.84330	N	0.093332	0.97716	0.39342	D	1.625	0.41611	L	1.45	0.32482	T	-1.91	0.44471	N	0.317	0.35727	-1.0960	0.04611	T	0.067	0.27674	T	10	0.32657307	0.49952	T	0.013052	0.32145	T	0.159	0.41286	0.621	0.75576	0.0675242888579	0.06100	0.16836300105323626	0.16756	0.609390119141	0.55673	0.471006810665	0.34819	T	0.034367	0.23294	T	-0.0812643	0.39510	T	-0.354507	0.38687	T	0.852966547012329	0.50423	D	0.805919	0.45429	T	0.40586016	0.61137	0.34273237	0.59995	0.40586016	0.61137	0.34273237	0.59995	-3.659	0.18715	T	.	.	0.084	0.09578	B	.	.	2.971785	0.39609	21.0	0.99211377679288115	0.55594	0.96865	0.71360	D	AEFDBI	0.743925	0.68707	D	0.0505051308238605	0.44166	2.695636	0.0640090590364151	0.42753	2.591586	0.999985091589326	0.51787	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	2.7	0.31007	3.774000	0.55048	1.893000	0.29531	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0706:0.1347:0.7947	8.155	0.30325	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3456.33	34	chr10	15213169	.	T	G	3456.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.877;DP=893;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.417;SOR=0.635	GT:AD:DP:GQ:PL	0/1:99,130:229:99:3470,0,2544	18	0	1	0
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I,SVIL:NM_001323600:exon21:c.G2997A:p.M999I,SVIL:NM_021738:exon22:c.G4179A:p.M1393I,SVIL:NM_001323599:exon23:c.G3249A:p.M1083I	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029412	0.060811	0.016484	0.039474	0.000000	0.052632	0.025926	0.025000	0.05556	75.59	34	chr10	29490860	.	C	T	75.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.766;DP=1348;ExcessHet=0.119;FS=30.261;InbreedingCoeff=-0.0708;MLEAC=2;MLEAF=0.056;MQ=58.45;MQRankSum=-11.02;QD=0.31;ReadPosRankSum=-3.715;SOR=2.54	GT:AD:DP:GQ:PL	0/1:110,13:123:54:54,0,3109	16	0	2	1
chr10	42823716	42823716	C	T	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon21:c.C3388T:p.R1130W	.	549	963	10	0	0	10	0.00516529	.	.	.	737484	not_provided|BMS1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.265	.	.	0.00199681	0.0023	0	0.0014	0	0.0002	0.0008	0.0024	0.0115	0.0017205	266	154602	rs138529489	0.0011	0.0011	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	5.994e-05	0.0009	0.0037	0	0.0004	0.0031	0.0003	0.0013	0.0115	0.0007	0.0007	0.0004	0.0010	0.0135	0.0006	0.0006	0.0109	0.0099	0	0	0.0004	0.0026	0	0.0007	0.0068	0.0003	0.0005	0.0135	0.011	0.55530	D	0.031	0.53788	D	0.01	0.15535	B	0.003	0.08700	B	0.000125	0.49741	N	0.171613	0.999898	0.50595	D	2.84	0.82582	M	0.93	0.44065	T	-5.96	0.89211	D	0.676	0.68342	-0.9300	0.44139	T	0.125	0.42903	T	10	0.013313651	0.00283	T	.	.	.	0.265	0.57870	0.631	0.76699	0.65795513568	0.65509	0.7714390700717881	0.77093	0.100634872147	0.11374	0.641891360283	0.58833	T	0.370767	0.73525	T	0.0447042	0.57659	T	-0.173562	0.57117	T	0.171784562101985	0.18700	T	0.889011	0.61998	D	0.4172859	0.61911	0.29720032	0.55753	0.4172859	0.61911	0.29720032	0.55752	-11.867	0.84197	D	.	.	0.279	0.51201	B	.	.	3.126249	0.42227	21.5	0.99584527023266678	0.73218	0.81072	0.40555	D	AEFBI	0.564205	0.57109	D	-0.229377481797391	0.31934	1.79564	-0.208017541717647	0.31246	1.766585	8.9627386451385E-5	0.04703	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.54	-0.92	0.09942	2.289000	0.43184	.	.	0.544000	0.25403	1.000000	0.71638	0.995000	0.32472	0.887000	0.42601	0.6796:0.2313:0.0:0.0891	8.565	0.32692	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006619	0.000000	0.000000	0.000000	0.000000	0.018182	0.015748	0.012500	0.02632	693.33	33	chr10	42823716	.	C	T	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.34;DP=702;ExcessHet=0;FS=0.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.64;MQRankSum=-3.775;QD=9.63;ReadPosRankSum=-0.716;SOR=0.854	GT:AD:DP:GQ:PL	0/1:47,25:72:99:707,0,1098	18	0	1	0
chr10	47502708	47502708	C	T	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.G1421A:p.R474H	.	415	1085	19	3	0	25	0.0113895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0029	0.0143	0	0	0	0	0	0	0.0005379	14	26028	rs1456306199	0.0011	0.0012	0.0008	0.0014	0.0098	0.0011	0.0011	0.0092	0.0090	0.0001	0.0001	0.0007	5.04e-05	0.0004	0.0090	0.0006	0.0014	0.0098	0.0008	0.0008	0.0006	0.0010	0.0100	0.0007	0.0006	0.0077	0.0069	0.0003	0.0022	6.784e-05	0.0003	0.0002	0.0004	0.0174	0.0006	0.0015	0.0100	0.07	0.35349	T	0.123	0.35582	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	0.42888	T	-3.69	0.70432	D	0.219	0.24510	.	.	.	.	.	.	.	0.011139333	0.00245	T	.	.	.	.	.	.	.	0.341460817117	0.33762	0.04041368958705708	0.03987	.	.	.	.	.	.	.	.	0.0361914	0.56543	T	-0.18579	0.55983	T	.	.	.	0.764624	0.39166	T	.	.	.	.	.	.	.	.	-6.686	0.51705	T	.	.	0.100	0.16973	B	.	.	1.788199	0.22733	15.74	0.72366461872350973	0.09948	0.03806	0.09138	N	AEFI	.	.	.	.	.	.	.	.	.	1.49817134109118E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.277913	0.05378	0	0.101684	0.03063	0	0.0891036	0.20137	0.109	0.109	0.13884	0.984000	0.29163	-0.373000	0.09593	0.148000	0.17689	0.001000	0.13787	0.000000	0.08366	0.063000	0.16184	2.0E-4:0.5106:0.4891:1.0E-4	3.703	0.07919	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2796.33	47	chr10	47502708	.	C	T	2796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=1375;ExcessHet=0;FS=2.737;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.6;MQRankSum=2.6;QD=10.55;ReadPosRankSum=-1.686;SOR=0.882	GT:AD:DP:GQ:PL	0/1:156,109:265:99:2810,0,3892	18	0	1	0
chr10	48446551	48446551	T	C	exonic	ARHGAP22	.	nonsynonymous SNV	ARHGAP22:NM_001256026:exon8:c.A1667G:p.K556R,ARHGAP22:NM_001347735:exon9:c.A1808G:p.K603R,ARHGAP22:NM_001256024:exon10:c.A1985G:p.K662R,ARHGAP22:NM_001256025:exon10:c.A1955G:p.K652R,ARHGAP22:NM_021226:exon10:c.A1937G:p.K646R,ARHGAP22:NM_001347738:exon11:c.A1955G:p.K652R	.	416	1105	1	0	0	1	0.000452284	.	.	.	3587172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.00778818710783	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs760805908	1.915e-05	1.915e-05	1.77e-05	2.063e-05	2.248e-05	1.328e-05	1.144e-05	1.543e-05	1.304e-05	0	2.236e-05	0	0	0	0	2.248e-05	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.06648	T	0.773	0.08419	T	0.003	0.20480	B	0.002	0.19966	B	0.000616	0.42945	N	0.227351	0.980981	0.28463	N	0.355	0.11969	N	0.43	0.56772	T	0.04	0.06488	N	0.024	0.06059	-0.9999	0.29945	T	0.055	0.23338	T	10	0.022904038	0.00584	T	0.007788	0.20668	T	0.046	0.12618	0.187	0.09646	0.260249123532	0.25628	0.05886270314444771	0.05827	0.139183365146	0.15689	0.300786048174	0.10517	T	0.026697	0.19702	T	-0.24528	0.14682	T	-0.574618	0.15029	T	0.0210060626268387	0.00801	T	0.845015	0.53996	T	0.01808494	0.00330	0.03523904	0.02738	0.01808494	0.00330	0.03523904	0.02738	-3.263	0.13265	T	.	.	0.067	0.10352	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.338350	0.17444	13.17	0.56854255616115279	0.05642	0.51721	0.28962	D	AEFDBCI	0.154242	0.27924	N	-1.0247267943908	0.08093	0.3782556	-0.938112222515869	0.11200	0.5691088	0.99059970086479	0.32205	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.42	-1.69	0.07747	0.240000	0.17822	0.197000	0.15809	0.665000	0.62972	0.988000	0.36536	0.984000	0.30665	0.984000	0.60418	0.0:0.6098:0.0:0.3902	10.344	0.43079	929	0.16858	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1785.33	45	chr10	48446551	.	T	C	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.135;DP=851;ExcessHet=0;FS=4.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.727;SOR=0.399	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1799,0,2486	18	0	1	0
chr10	48731212	48731212	C	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon9:c.C1232A:p.T411N,WDFY4:NM_001370154:exon9:c.C1232A:p.T411N,WDFY4:NM_020945:exon9:c.C1232A:p.T411N	.	418	1103	1	0	0	1	0.000453104	.	.	.	3489626	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.0030618480555	.	.	4.585e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs771657240	2.215e-05	2.121e-05	1.974e-05	2.463e-05	0.0002	1.588e-05	1.383e-05	1.59e-05	1.344e-05	0	0	0	0	0	0.0002	2.317e-05	6.892e-05	1.262e-05	2.628e-05	2.627e-05	5.138e-05	0	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0.0003	0	0	0	4.409e-05	0	0	0.453	0.08917	T	0.016	0.72224	D	0.928	0.52538	P	0.55	0.50808	P	.	.	.	.	0.538058	0.31435	N	1.415	0.35607	L	1.09	0.39223	T	-0.67	0.19297	N	0.232	0.56489	-0.9844	0.33975	T	0.118	0.41407	T	9	0.19027463	0.34664	T	0.003062	0.06606	T	0.104	0.29647	0.369	0.37850	0.185906805712	0.18197	0.4296153201987226	0.42878	.	.	0.586096405983	0.50945	T	0.005801	0.05248	T	-0.121917	0.32810	T	-0.402083	0.33141	T	0.380896896123886	0.28217	T	0.757524	0.38090	T	0.10735173	0.25384	0.1487549	0.35150	0.10735173	0.25383	0.1487549	0.35149	-2.559	0.13841	T	.	.	0.103	0.21466	B	.;.	.;.	3.502162	0.48999	22.7	0.98957618605812303	0.49266	0.93047	0.57193	D	AEFBI	0.612322	0.60044	D	0.240339118580202	0.53162	3.486467	0.320427971203134	0.56743	3.837979	0.999988292570121	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.58	5.58	0.84361	1.597000	0.36340	3.327000	0.37595	0.599000	0.40250	0.994000	0.38300	0.999000	0.35428	0.880000	0.42090	0.0:1.0:0.0:0.0	18.571	0.91091	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1945.33	43	chr10	48731212	.	C	A	1945.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=864;ExcessHet=0;FS=4.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.816;SOR=1.047	GT:AD:DP:GQ:PL	0/1:67,70:137:99:1959,0,1750	18	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2333	1477.75	133	chr10	50104143	.	G	C	1477.75	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-1.885;DP=1275;ExcessHet=5.3738;FS=165.811;InbreedingCoeff=-0.429;MLEAC=8;MLEAF=0.267;MQ=56.17;MQRankSum=0.546;QD=2.07;ReadPosRankSum=1.01;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,5:42:6:.:.:43,0,1099:.	8	0	7	4
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	1433.55	133	chr10	50104144	.	G	C	1433.55	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=6;MLEAF=0.176;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,5:43:10:.:.:10,0,1216:.	11	0	6	2
chr10	73911598	73911598	G	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_002658:exon2:c.G43T:p.V15L	Quebec platelet disorder, Autosomal dominant	1	1409	105	7	0	119	0.0405175	.	.	.	316280	not_provided|Quebec_platelet_disorder	MedGen:C3661900|MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0078	0.00738818	0.0115	0.0017	0.0058	0	0.0069	0.0120	0.0154	0.0279	0.010375	1604	154602	rs2227580	0.0087	0.0087	0.0077	0.0097	0.0501	0.0086	0.0085	0.0454	0.0435	0.0019	0.0067	0.0185	0	0.0068	0.0501	0.0073	0.0104	0.0281	0.0076	0.0077	0.0079	0.0074	0.0236	0.0073	0.0071	0.0201	0.0188	0.0019	0	0.0061	0.0181	0	0.0047	0.0578	0.0107	0.0123	0.0236	0.322	0.13479	T	0.0	0.92824	D	.	.	.	.	.	.	0.004663	0.33505	N	0.182175	1	0.23414	N	.	.	.	-2.24	0.87194	D	-0.07	0.08033	N	0.051	0.02272	-0.8534	0.51732	T	0.232	0.59867	T	10	0.0038291514	0.00072	T	.	.	.	0.102	0.29158	0.117	0.02508	.	.	0.5124656367934278	0.51168	0.27678225461	0.30148	0.449435532093	0.31867	T	.	.	.	-0.447549	0.01167	T	-0.396052	0.33845	T	0.00947673903922724	0.00122	T	0.487251	0.14908	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27583	B	.;.	.;.	1.692782	0.21567	15.25	0.89963582726528479	0.19259	0.15746	0.19061	N	ALL	0.088594	0.17960	N	-0.679747109664984	0.16599	0.8471829	-0.602636444368169	0.19425	1.042126	0.999999986212794	0.74766	0.789315	0.99827	0	0.552344	0.17405	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	5.98	2.75	0.31439	0.995000	0.29307	1.024000	0.23428	0.662000	0.56354	0.504000	0.26986	0.441000	0.24904	0.058000	0.15825	0.0:0.2474:0.6074:0.1452	10.072	0.41510	394	0.83065	.;.	MSS51|DUSP8P5|KAT6B	Minor_Salivary_Gland|Testis|Thyroid	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.038771	0.035354	0.040761	0.058480	0.000000	0.025862	0.033537	0.026515	0.05263	3107.83	42	chr10	73911598	.	G	T	3107.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=6.02;DP=877;ExcessHet=0.119;FS=5.871;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.716;SOR=1.034	GT:AD:DP:GQ:PL	0/1:92,60:152:99:1761,0,2123	17	0	2	0
chr10	73913659	73913659	C	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_001145031:exon6:c.C530T:p.A177V,PLAU:NM_001319191:exon6:c.C323T:p.A108V,PLAU:NM_002658:exon7:c.C581T:p.A194V	Quebec platelet disorder, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	316300	Quebec_platelet_disorder|not_provided	MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	0.0356830325891	.	0.000599042	0.0004	0	8.654e-05	0.0037	0	0.0002	0.0011	6.108e-05	0.0003234	50	154602	rs145865648	0.0005	0.0005	0.0004	0.0005	0.0123	0.0004	0.0004	0.0114	0.0111	0	6.712e-05	0	0.0123	0	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0016	0	0	0.0001	0	0.0031	0	0	0.0001	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.049552	1	0.81001	D	.	.	.	1.81	0.25182	T	-3.58	0.69118	D	0.678	0.68516	-1.0329	0.19522	T	0.059	0.24649	T	10	0.01889646	0.00416	T	0.035683	0.56507	D	0.154	0.40340	.	.	0.488827753106	0.48517	0.6879147439663108	0.68731	0.972466431817	0.73421	0.500087141991	0.38840	T	0.519048	0.83146	D	-0.341408	0.05290	T	-0.26655	0.48168	T	0.127081973561236	0.15110	T	0.872413	0.57909	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.61176	A	.;.	.;.	4.722440	0.75979	26.4	0.99942822447606838	0.99848	0.79434	0.39360	D	AEFDBCI	0.337688	0.43541	N	0.364066487320556	0.59485	4.128434	0.434640388669401	0.63737	4.613508	0.999999999983646	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.25	5.25	0.73169	1.590000	0.36264	6.026000	0.52860	0.599000	0.40250	0.861000	0.30630	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	14.708	0.68818	394	0.83065	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	3646.33	66	chr10	73913659	.	C	T	3646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=1513;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.156;SOR=0.763	GT:AD:DP:GQ:PL	0/1:159,140:299:99:3660,0,3782	18	0	1	0
chr10	75401348	75401348	-	CCG	exonic	ZNF503	.	nonframeshift insertion	ZNF503:NM_032772:exon1:c.71_72insCGG:p.G27_A28insG	.	142	1331	24	1	24	50	0.00967262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0042	0.0055	0	0	0.0046	0	0.0044	0.0016521	43	26028	rs780118403	0.0031	0.0030	0.0030	0.0033	0.0094	0.0031	0.0030	0.0072	0.0065	0.0044	0.0021	0.0066	8.399e-05	0.0007	0.0094	0.0030	0.0037	0.0064	0.0038	0.0038	0.0042	0.0034	0.0081	0.0036	0.0034	0.0061	0.0054	0.0041	0	0.0028	0.0087	0	0.0003	0.0035	0.0043	0.0048	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015222	0.012346	0.020202	0.016234	0.000000	0.058140	0.014925	0.004310	0.02632	904.29	33	chr10	75401348	.	T	TCCG	904.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.66;ReadPosRankSum=-0.542;SOR=0.743	GT:AD:DP:GQ:PL	0/1:20,26:46:99:918,0,737	18	0	1	0
chr10	79612387	79612387	G	C	exonic	SFTPA1	.	nonsynonymous SNV	SFTPA1:NM_001164647:exon3:c.G248C:p.G83A,SFTPA1:NM_001093770:exon4:c.G293C:p.G98A,SFTPA1:NM_001164644:exon4:c.G248C:p.G83A,SFTPA1:NM_001164645:exon4:c.G146C:p.G49A,SFTPA1:NM_001164646:exon4:c.G101C:p.G34A,SFTPA1:NM_005411:exon4:c.G248C:p.G83A	.	0	1518	3	1	0	5	0.0016442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.190278966362	.	.	0.0001	0	0	0	0	1.499e-05	0	0.0009	0.00011	17	154602	rs762122985	8.825e-05	8.824e-05	4.493e-05	0.0001	0.0012	7.555e-05	7.102e-05	0.0010	0.0009	0	2.236e-05	0	0	0	0.0002	1.439e-05	0.0001	0.0012	3.287e-05	3.283e-05	0	6.728e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.007	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000019	0.62929	D	0.000000	0.922564	0.27258	N	3.76	0.95097	H	-6.27	0.99601	D	-3.53	0.75615	D	0.76	0.75834	0.940	0.96249	D	0.987	0.99616	D	10	0.8197185	0.81185	D	0.190279	0.86114	D	0.683	0.88396	0.786	0.90919	0.807196080015	0.80539	0.5472066379250489	0.54646	0.137836223077	0.15542	0.695400357246	0.66481	T	0.59432	0.86905	D	-0.0289911	0.47563	T	0.129232	0.78841	D	0.99601137638092	0.88504	D	0.951205	0.81406	D	0.3447419	0.56654	0.20126468	0.44098	0.3447419	0.56654	0.20126468	0.44097	-10.309	0.76056	D	0.6931764713022509	0.77118	0.248	0.53732	B	.;.;.;.;.	.;.;.;.;.	3.939026	0.57625	23.9	0.99722120710921203	0.82125	0.87593	0.47183	D	AEFDBHI	0.101317	0.20352	N	0.533242015676982	0.69067	5.304826	0.318460287730947	0.56623	3.826055	0.00179189413031845	0.08891	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.73	2.73	0.31266	4.444000	0.59743	11.208000	0.89295	0.584000	0.30380	0.991000	0.37257	1.000000	0.68203	0.098000	0.18187	0.0:0.0:1.0:0.0	9.116	0.35919	702	0.57624	.;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1318.33	49	chr10	79612387	.	G	C	1318.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.023;DP=965;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.84;SOR=0.675	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1332,0,1493	18	0	1	0
chr10	97656887	97656887	G	A	exonic	PI4K2A	.	nonsynonymous SNV	PI4K2A:NM_018425:exon4:c.G835A:p.A279T	.	428	1086	8	0	0	8	0.00366972	.	.	.	2330173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.378	0.0385260531178	0.0011	0.000798722	0.0010	0.0002	0.0013	0	0	0.0014	0.0022	0.0002	0.0008861	137	154602	rs146387356	0.0008	0.0008	0.0008	0.0009	0.0081	0.0008	0.0008	0.0063	0.0056	0.0004	0.0019	0.0064	0	0	0.0081	0.0007	0.0018	0.0002	0.0009	0.0009	0.0009	0.0009	0.0039	0.0008	0.0007	0.0031	0.0028	0.0002	0	0.0039	0.0058	0	0	0.0136	0.0006	0.0019	0	0.257	0.20306	T	0.58	0.12884	T	0.013	0.16609	B	0.065	0.27321	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.575	0.15311	N	-2.06	0.85875	D	-0.86	0.23372	N	0.34	0.41557	-0.1398	0.79169	T	0.441	0.77884	T	10	0.010307252	0.00230	T	0.038526	0.58275	D	0.378	0.69612	.	.	0.63942624558	0.63646	0.7111429399500546	0.71056	1.11704407998	0.78198	0.747226834297	0.74038	T	0.067184	0.33137	T	-0.230558	0.16574	T	-0.128584	0.61091	T	0.0389464034188492	0.03500	T	0.949705	0.80662	D	0.2664319	0.49713	0.19563064	0.43250	0.2664319	0.49712	0.19563064	0.43249	-6.639	0.51350	T	.	.	0.115	0.23113	B	.;.	.;.	3.802935	0.54811	23.5	0.99674309529827965	0.78782	0.94820	0.62442	D	AEFDBCI	0.719821	0.67058	D	0.205844904202865	0.51480	3.329064	0.359061182918758	0.59056	4.080275	0.999999999999968	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	6.940000	0.75726	11.812000	0.96965	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.111	0.93302	512	0.75040	.;Phosphatidylinositol 3-/4-kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.045455	0.017663	0.011696	0.000000	0.000000	0.003049	0.000000	0.02632	1636.33	34	chr10	97656887	.	G	A	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.831;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-1.256;SOR=0.69	GT:AD:DP:GQ:PL	0/1:45,62:107:99:1650,0,1048	18	0	1	0
chr10	107164511	107164511	C	T	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_001013031:exon1:c.G16A:p.A6T,SORCS1:NM_001206569:exon1:c.G16A:p.A6T,SORCS1:NM_001206570:exon1:c.G16A:p.A6T,SORCS1:NM_001206571:exon1:c.G16A:p.A6T,SORCS1:NM_001206572:exon1:c.G16A:p.A6T,SORCS1:NM_052918:exon1:c.G16A:p.A6T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.173404486065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239308064	1.676e-06	8.209e-06	1.615e-06	1.742e-06	2.025e-06	2.8e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.025e-06	0	0	6.583e-06	6.57e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.0	0.91255	D	0.123	0.35582	T	0.091	0.25247	B	0.012	0.16012	B	0.004138	0.34080	N	0.000000	0.996229	0.23079	N	0	0.06538	N	2.4	0.15608	T	-0.22	0.10480	N	0.273	0.30914	-1.0056	0.28277	T	0.021	0.08732	T	9	0.098932296	0.17921	T	0.173404	0.85011	D	0.010	0.01040	0.322	0.30226	0.043077524339	0.03247	0.2142828322049302	0.21344	.	.	0.845486283302	0.88931	D	0.068589	0.33494	T	-0.279286	0.10743	T	-0.638951	0.09745	T	0.633903881681329	0.37780	D	0.721828	0.33531	T	0.12575166	0.29471	0.18132766	0.40989	0.12575166	0.29471	0.18132766	0.40988	-5.407	0.40987	T	.	.	0.163	0.36053	B	.	.	2.442337	0.31438	18.74	0.99572115151999252	0.72440	0.48387	0.28195	N	AEFDBCIJ	0.064654	0.12568	N	-0.397760839872782	0.25548	1.387693	-0.273811438892922	0.28965	1.619045	0.902844638680266	0.26137	0.487112	0.14033	0	0.59043	0.45803	0	0.503968	0.08637	0	0.564101	0.26826	0	.	.	3.96	3.05	0.34272	2.466000	0.44742	-1.853000	0.04608	0.511000	0.23309	0.828000	0.30104	0.000000	0.08366	0.745000	0.35611	0.0:0.6774:0.2104:0.1122	5.366	0.15415	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	742.33	22	chr10	107164511	.	C	T	742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=697;ExcessHet=0;FS=3.526;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.449;SOR=1.204	GT:AD:DP:GQ:PL	0/1:36,29:65:99:756,0,829	18	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	T	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,30:115:99:0|1:117341048_C_T:279,0,2530:117341048	13	0	4	2
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:75,36:132:99:119,0,1128	6	0	12	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,45:141:99:0|1:124989533_G_A:1359,0,3798:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:118,32:150:99:466,0,3939	2	0	17	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,16:132:99:0|1:124994489_T_G:323,0,4823:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,22:148:99:0|1:124994489_T_G:517,0,5214:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,23:148:99:0|1:124994489_T_G:550,0,5129:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,29:162:99:0|1:124994523_G_A:807,0,5322:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:133,32:165:99:432,0,3762	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:129,39:168:99:547,0,3735	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,39:178:99:0|1:124994577_C_A:1209,0,5581:124994577	0	0	19	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	1771.33	259	chr10	124998077	.	C	G	1771.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.647;DP=3498;ExcessHet=0.7564;FS=15.58;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.756;QD=2.49;ReadPosRankSum=1.42;SOR=2.216	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,20:155:99:0|1:124998077_C_G:433,0,5532:124998077	3	0	4	12
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	1753.33	256	chr10	124998080	.	G	C	1753.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.292;DP=3518;ExcessHet=0.7564;FS=15.576;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.729;QD=2.45;ReadPosRankSum=1.75;SOR=2.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,20:159:99:0|1:124998077_C_G:421,0,5718:124998077	3	0	4	12
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	1799.33	255	chr10	124998087	.	T	C	1799.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.812;DP=3535;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=-8.764;QD=2.51;ReadPosRankSum=3.16;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,20:159:99:0|1:124998077_C_G:421,0,5776:124998077	3	0	4	12
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	1757.33	259	chr10	124998090	.	G	A	1757.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.557;DP=3577;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.835;QD=2.41;ReadPosRankSum=3.64;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,20:161:99:0|1:124998077_C_G:415,0,5836:124998077	3	0	4	12
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	1780.33	276	chr10	124998111	.	A	C	1780.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.781;DP=3589;ExcessHet=0.7564;FS=15.168;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.882;QD=2.46;ReadPosRankSum=4.79;SOR=2.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,20:160:99:0|1:124998111_A_C:418,0,5798:124998111	3	0	4	12
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	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	.	.	.	.	.	.	.	.	0.2857	1759.33	274	chr10	124998113	.	A	G	1759.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.006;DP=3601;ExcessHet=0.7564;FS=15.272;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.929;QD=2.41;ReadPosRankSum=4.27;SOR=2.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,20:160:99:0|1:124998111_A_C:418,0,5798:124998111	3	0	4	12
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	446.39	235	chr10	125003006	.	T	C	446.39	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.486;DP=2698;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.097;QD=0.84;ReadPosRankSum=0.636;SOR=1.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,10:115:99:0|1:125003006_T_C:104,0,4342:125003006	5	0	5	9
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	419.35	233	chr10	125003008	.	T	C	419.35	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.65;DP=2690;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.21;MQRankSum=-5.097;QD=0.78;ReadPosRankSum=0.883;SOR=1.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,10:123:80:0|1:125003006_T_C:80,0,4541:125003006	5	0	5	9
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	440.56	235	chr10	125003010	.	C	T	440.56	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.965;DP=2699;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3359;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.032;QD=0.83;ReadPosRankSum=0.743;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,10:120:89:0|1:125003006_T_C:89,0,4452:125003006	5	0	5	9
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2727	522.42	224	chr10	125003036	.	C	A	522.42	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.179;DP=2686;ExcessHet=2.0135;FS=10.865;InbreedingCoeff=-0.3614;MLEAC=8;MLEAF=0.364;MQ=56.82;MQRankSum=-4.942;QD=0.84;ReadPosRankSum=0.899;SOR=1.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,12:113:99:0|1:125003036_C_A:140,0,4205:125003036	5	0	6	8
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1099.74	206	chr10	125003062	.	T	A	1099.74	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.677;DP=2663;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.4087;MLEAC=10;MLEAF=0.455;MQ=56.84;MQRankSum=-5.566;QD=1.47;ReadPosRankSum=1.17;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,12:126:99:0|1:125003062_T_A:161,0,4730:125003062	4	0	7	8
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1090.65	204	chr10	125003065	.	T	A	1090.65	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.972;DP=2662;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.408;MLEAC=10;MLEAF=0.455;MQ=56.85;MQRankSum=-5.599;QD=1.45;ReadPosRankSum=1.2;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,12:126:99:0|1:125003062_T_A:161,0,4730:125003062	4	0	7	8
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039033	.	T	A	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.557;DP=1277;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.85;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.955;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,10:139:32:0|1:125039033_T_A:32,0,5387:125039033	15	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	265.39	34	chr10	125039035	.	T	C	265.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.641;DP=1268;ExcessHet=0.7564;FS=2.405;InbreedingCoeff=-0.1167;MLEAC=4;MLEAF=0.105;MQ=58.84;MQRankSum=-11.94;QD=0.45;ReadPosRankSum=-0.658;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,10:139:32:0|1:125039033_T_A:32,0,5387:125039033	15	0	4	0
chr10	125576858	125576858	G	A	exonic	TEX36	.	nonsynonymous SNV	TEX36:NM_001318133:exon4:c.C281T:p.T94M	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00339457	0.0058	0	0.0053	0	0	0.0086	0	0.0051	0.0013842	214	154602	rs77774010	0.0098	0.0093	0.0100	0.0097	0.0148	0.0097	0.0097	0.0122	0.0113	0.0012	0.0054	0.0053	5.597e-05	0.0100	0.0148	0.0111	0.0094	0.0040	0.0071	0.0071	0.0071	0.0072	0.0111	0.0068	0.0066	0.0104	0.0102	0.0018	0.0033	0.0056	0.0055	0	0.0086	0.0102	0.0111	0.0137	0.0050	0.064	0.36509	T	0.068	0.44106	T	0.98	0.59353	D	0.541	0.48869	P	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	-0.83	0.22727	N	0.068	0.04072	-1.0342	0.19109	T	0.070	0.28740	T	8	0.005066544	0.00109	T	.	.	.	0.069	0.20116	.	.	0.115124310173	0.11017	.	.	.	.	.	.	.	0.015888	0.13236	T	-0.71423	0.00030	T	-0.787688	0.02229	T	0.00483143693266006	0.00052	T	0.405359	0.10397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14751	B	.	.	0.545452	0.09141	5.923	0.90987877252136895	0.20237	0.00587	0.02638	N	AEFBI	0.025843	0.01838	N	-0.519285017956033	0.21456	1.138853	-0.78107368167306	0.14959	0.7843592	3.26355241941716E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.07	-0.0915	0.12996	-0.104000	0.10893	-0.314000	0.10017	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4177:0.0:0.5823:0.0	4.337	0.10527	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2227.33	38	chr10	125576858	.	G	A	2227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.45;DP=793;ExcessHet=0;FS=3.217;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-1.378;SOR=1.02	GT:AD:DP:GQ:PL	0/1:62,78:140:99:2241,0,1515	18	0	1	0
chr10	126464782	126464782	A	G	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon4:c.T1448C:p.F483S,C10orf90:NM_001350921:exon5:c.T1739C:p.F580S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00801001120175	7.7e-05	0.000399361	0.0002	0	0.0003	0	0	0.0003	0.0022	0.0002	0.000194	30	154602	rs144737013	0.0001	0.0001	9.937e-05	0.0001	0.0028	0.0001	0.0001	0.0017	0.0014	2.987e-05	0.0004	0.0017	0	0	0.0028	4.856e-05	0.0003	0.0004	0.0001	0.0001	0.0001	0.0002	0.0004	9.742e-05	8.256e-05	8.87e-05	5.282e-05	2.408e-05	0	0.0003	0.0026	0	0	0	8.822e-05	0	0.0004	0.002	0.72154	D	0.006	0.70582	D	0.215	0.30128	B	0.069	0.27757	B	0.994674	0.08007	N	0.996520	0.992938	0.41786	D	1.39	0.34934	L	2.23	0.18083	T	-0.54	0.19509	N	0.085	0.07535	-1.0829	0.06795	T	0.025	0.10598	T	10	0.010611415	0.00235	T	0.00801	0.21239	T	0.071	0.20720	.	.	0.218112801441	0.21410	0.1666848352514686	0.16588	0.176264106329	0.19841	.	.	.	0.004741	0.13319	T	-0.466777	0.00891	T	-0.586303	0.13988	T	0.0614712516585581	0.07398	T	0.639636	0.25265	T	0.2597068	0.49024	0.20430094	0.44548	0.2597068	0.49024	0.20430094	0.44547	-1.677	0.02170	T	.	.	0.131	0.31658	B	.;.;.	.;.;.	1.302348	0.17042	12.92	0.98646489420257966	0.44123	0.14130	0.18239	N	AEFGI	0.105714	0.21115	N	-0.573649428483817	0.19749	1.035988	-0.56380640612465	0.20439	1.101238	0.999881670905297	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	4.44	0.53164	1.384000	0.34003	0.763000	0.21331	0.743000	0.86499	0.001000	0.13787	0.000000	0.08366	0.884000	0.42379	1.0:0.0:0.0:0.0	11.200	0.47967	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2087.33	40	chr10	126464782	.	A	G	2087.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.331;DP=758;ExcessHet=0;FS=5.56;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=0.619;SOR=0.358	GT:AD:DP:GQ:PL	0/1:58,79:137:99:2101,0,1622	18	0	1	0
chr10	131981872	131981872	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon1:c.C130T:p.P44S	.	403	1098	19	2	0	23	0.010365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	.	.	.	.	.	.	.	.	0.0033041	86	26028	rs572410005	0.0041	0.0044	0.0034	0.0048	0.0277	0.0040	0.0039	0.0265	0.0261	0.0007	0.0009	0.0023	3.661e-05	0.0277	0.0050	0.0023	0.0035	0.0277	0.0054	0.0054	0.0032	0.0077	0.0190	0.0051	0.0049	0.0159	0.0147	0.0004	0	0.0006	0.0012	0.0002	0.0467	0.0034	0.0028	0.0019	0.0190	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	0.999916	0.19599	N	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0038288534	0.00072	T	.	.	.	.	.	.	.	.	.	0.2150976367720552	0.21425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352165	0.08539	T	0.023533164	0.01101	0.062835746	0.12354	0.023533164	0.01101	0.062835746	0.12354	-4.085	0.25068	T	.	.	0.075	0.05491	B	.;.	.;.	0.285013	0.06619	3.111	0.91888445491352655	0.21207	0.15096	0.18742	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999842911	0.74766	0.255962	0.04286	0	0.098	0.03038	0	0.217501	0.04623	0	0.159066	0.04077	0	0.124127	0.25079	2.77	-5.54	0.02343	-3.767000	0.00418	-5.246000	0.01791	-1.323000	0.01224	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2517:0.299:0.2083:0.241	0.368	0.00348	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	419.33	36	chr10	131981872	.	G	A	419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.084;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.513;SOR=0.793	GT:AD:DP:GQ:PL	0/1:30,19:49:99:433,0,828	18	0	1	0
chr10	132924727	132924727	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon11:c.G1225A:p.G409S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.029311339197	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159250118	3.604e-06	9.577e-06	5.689e-06	1.461e-06	0.0004	1.06e-06	7.7e-07	6.606e-05	2.675e-05	3.273e-05	0	0	0	0	0.0004	0	0	2.548e-05	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.941	0.02191	T	0.86	0.03409	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.61	0.53516	T	0.2	0.04861	N	0.051	0.02272	-1.0043	0.28666	T	0.041	0.17827	T	6	0.105398476	0.19480	T	0.029311	0.51841	D	0.034	0.08419	0.242	0.17524	0.0551355673512	0.04727	0.05128063321860501	0.05070	0.108200635724	0.12199	0.369392096996	0.20745	T	0.002117	0.01518	T	-0.309942	0.07753	T	-0.682987	0.06803	T	0.0267276540453524	0.01505	T	0.325967	0.06723	T	0.024721337	0.01333	0.04600376	0.06317	0.024721337	0.01333	0.04600376	0.06316	-1.764	0.02404	T	.	.	0.069	0.03266	B	.	.	-0.024265	0.04119	0.975	0.54546213734184712	0.05159	0.00167	0.00991	N	AEFDBI	0.032677	0.03735	N	-0.895736915911074	0.10943	0.5255258	-1.03851346102758	0.08948	0.4425336	2.9953284144914E-4	0.06406	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	3.53	0.649	0.16979	0.698000	0.25249	0.114000	0.14823	-0.177000	0.10537	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.2515:0.2197:0.5288	3.151	0.06098	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1360.33	40	chr10	132924727	.	C	T	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.63;DP=760;ExcessHet=0;FS=3.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.466;SOR=1.115	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,45:83:99:0|1:132924727_C_T:1374,0,1416:132924727	18	0	1	0
chr11	205628	205628	G	A	exonic	BET1L	.	nonsynonymous SNV	BET1L:NM_001098787:exon3:c.C151T:p.R51W,BET1L:NM_016526:exon3:c.C151T:p.R51W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0250722591224	.	.	4.153e-05	0	0	0	0	1.513e-05	0	0.0002	3.23e-05	5	154602	rs760787307	2.532e-05	2.531e-05	2.315e-05	2.752e-05	0.0002	1.868e-05	1.631e-05	0.0001	8.646e-05	2.988e-05	2.237e-05	0	0	0	0	1.709e-05	1.657e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.004	0.74150	D	0.231	0.68779	B	0.026	0.56482	B	0.016274	0.28022	N	0.413227	0.999895	0.81001	D	2.05	0.56469	M	.	.	.	-4.77	0.86527	D	0.619	0.63883	-0.5531	0.66669	T	0.266	0.63781	T	9	0.23299381	0.40307	T	0.025072	0.48051	D	0.081	0.23632	0.276	0.22845	0.489311470972	0.48562	0.7054115455747015	0.70483	0.517804415941	0.49640	0.410328149796	0.26501	T	0.228498	0.73912	T	-0.276898	0.11000	T	-0.343373	0.39964	T	0.576661578999687	0.35490	D	0.960204	0.88252	D	0.28324726	0.51358	0.39570746	0.64231	0.28324726	0.51358	0.39570746	0.64231	-12.175	0.85693	D	.	.	0.555	0.67004	A	.;.;.;.;.	.;.;.;.;.	5.840236	0.93776	33	0.99913716246635942	0.98238	0.93336	0.57944	D	AEFDBCI	0.585804	0.58409	D	0.242766953603036	0.53283	3.497802	0.272419987135567	0.53934	3.560213	0.99999996483596	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.07	4.15	0.47978	2.083000	0.41239	8.505000	0.77371	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.997000	0.79791	0.0819:0.0:0.7593:0.1587	7.943	0.29133	774	0.48577	Target SNARE coiled-coil homology domain|BET1, SNARE domain;Target SNARE coiled-coil homology domain|BET1, SNARE domain;Target SNARE coiled-coil homology domain|BET1, SNARE domain;Target SNARE coiled-coil homology domain|BET1, SNARE domain;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1363.33	34	chr11	205628	.	G	A	1363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=715;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=1.38;SOR=1.149	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1377,0,913	18	0	1	0
chr11	205951	205951	C	A	splicing	BET1L	NM_001098787:exon2:c.111+1G>T;NM_016526:exon2:c.111+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.723e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384941	0.89024	D	0.315165	0.88885	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	6.879982	0.95860	35	0.99479086289103591	0.66795	0.97679	0.76359	D	AEFBCI	.	.	.	1.09496756829994	0.98040	17.29303	0.913442724670422	0.96132	14.33832	0.999999999999938	0.74766	0.12324	0.03125	0	0.177374	0.04040	0	0.121787	0.03316	0	0.119812	0.03901	0	0.992938	0.99924	4.17	4.17	0.48303	7.209000	0.77424	7.421000	0.58716	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	16.743	0.85324	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	869.33	45	chr11	205951	.	C	A	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.919;DP=809;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=0.55;SOR=0.85	GT:AD:DP:GQ:PL	0/1:58,40:98:99:883,0,1472	18	0	1	0
chr11	280345	280345	-	G	exonic	NLRP6	.	frameshift insertion	NLRP6:NM_001276700:exon4:c.612dupG:p.I206Hfs*46,NLRP6:NM_138329:exon4:c.612dupG:p.I206Hfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1791.29	34	chr11	280345	.	C	CG	1791.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=921;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-0.406;SOR=0.678	GT:AD:DP:GQ:PL	0/1:55,65:120:99:1805,0,1532	18	0	1	0
chr11	562307	562307	C	T	exonic	RASSF7	.	nonsynonymous SNV	RASSF7:NM_001143993:exon3:c.C353T:p.A118V,RASSF7:NM_001143994:exon3:c.C353T:p.A118V,RASSF7:NM_003475:exon3:c.C353T:p.A118V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00585593202245	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs771302601	9.591e-06	1.026e-05	1.091e-05	8.262e-06	0.0007	5.57e-06	4.35e-06	0.0002	0.0001	5.977e-05	0	0	0	0	0.0007	3.598e-06	6.63e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.18	0.29442	T	0.0	0.02946	B	0.002	0.06944	B	0.588071	0.11076	N	0.815368	1	0.08975	N	0.41	0.12415	N	1.44	0.33189	T	-0.9	0.24244	N	0.04	0.02366	-1.0122	0.26228	T	0.041	0.17446	T	10	0.050146163	0.04704	T	0.005856	0.15221	T	0.018	0.03083	0.157	0.06070	0.210429274316	0.20668	0.20221881386059026	0.20138	0.0222179674918	0.02231	0.327541381121	0.14563	T	0.004329	0.03739	T	-0.355422	0.04396	T	-0.748316	0.03552	T	0.0276047851787208	0.01631	T	0.611639	0.23235	T	0.03148449	0.02998	0.04016738	0.04279	0.03148449	0.02997	0.04016738	0.04279	-3.968	0.24445	T	.	.	0.081	0.10062	B	.;.;.;.	.;.;.;.	0.419642	0.07901	4.607	0.97108374200398939	0.32400	0.14712	0.18546	N	AEFBCI	0.043898	0.06995	N	-1.18663307336957	0.05201	0.2365644	-1.20415930771982	0.05843	0.2795405	0.999874788577503	0.44625	0.660085	0.49399	0	0.662677	0.63036	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	2.95	1.08	0.19456	-0.076000	0.11374	0.509000	0.19063	-0.187000	0.09635	0.000000	0.06391	0.001000	0.17328	0.101000	0.18331	0.0:0.7226:0.0:0.2774	8.723	0.33613	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	.	.	.	.	.	.	.	.	0.05263	1676.83	34	chr11	562307	.	C	T	1676.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.19;DP=751;ExcessHet=0.119;FS=7.675;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.575;SOR=0.921	GT:AD:DP:GQ:PL	0/1:37,29:66:99:868,0,986	17	0	2	0
chr11	722434	722434	C	T	exonic	EPS8L2	.	nonsynonymous SNV	EPS8L2:NM_022772:exon13:c.C1093T:p.R365C	.	.	.	.	.	.	.	.	.	.	.	2394501	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0997839650775	.	.	3.323e-05	0	8.664e-05	0.0001	0	0	0	0.0001	3.23e-05	5	154602	rs746329487	3.764e-05	3.899e-05	3.541e-05	3.989e-05	0.0002	2.961e-05	2.657e-05	9.929e-05	7.225e-05	0	8.946e-05	0.0002	0.0002	0	0	2.608e-05	4.969e-05	5.797e-05	1.972e-05	1.97e-05	2.569e-05	1.346e-05	0.0004	5.24e-06	2.45e-06	6.813e-05	2.852e-05	0	0	0	0.0003	0.0004	0	0	0	0	0	0.014	0.53172	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000005	0.62929	U	0.000000	0.778058	0.29363	N	3.05	0.86762	M	2.0	0.21473	T	-3.83	0.72120	D	0.646	0.65758	-1.0012	0.29574	T	0.089	0.34325	T	10	0.3493668	0.51831	T	0.099784	0.77166	D	0.221	0.51721	0.484	0.56621	0.455816718377	0.45207	0.5246665943044709	0.52390	0.15695211792	0.17722	0.631580293179	0.57370	T	0.321764	0.69284	T	-0.140856	0.29753	T	-0.214405	0.53274	T	0.657915949821472	0.38804	D	0.79872	0.46129	T	0.24759945	0.47739	0.10838556	0.26108	0.24759945	0.47739	0.10838556	0.26107	-8.26	0.64594	D	.	.	0.107	0.24054	B	.;.;.;.;.;.	.;.;.;.;.;.	3.806670	0.54888	23.5	0.98545301222079429	0.42770	0.45587	0.27572	N	AEFDBI	0.404622	0.47783	N	-0.0410452778611703	0.40002	2.368352	-0.263631094189738	0.29306	1.64081	0.998782077926078	0.37667	0.676563	0.55306	0	0.633656	0.55848	0	0.723109	0.80598	0	0.600526	0.37237	0	.	.	3.13	1.12	0.19700	1.696000	0.37392	0.422000	0.18230	-0.356000	0.05535	0.869000	0.30776	0.045000	0.21693	0.018000	0.11154	0.3331:0.3769:0.1738:0.1162	1.661	0.02623	912	0.21483	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	923.33	34	chr11	722434	.	C	T	923.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=723;ExcessHet=0;FS=1.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.06;SOR=0.976	GT:AD:DP:GQ:PL	0/1:39,35:74:99:937,0,897	18	0	1	0
chr11	800563	800563	C	T	exonic	PIDD1	.	nonsynonymous SNV	PIDD1:NM_145886:exon12:c.G2021A:p.R674H,PIDD1:NM_145887:exon12:c.G2021A:p.R674H	.	424	1096	2	0	0	2	0.000911577	.	.	.	3409318	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0076	0.00339457	0.0059	0.0020	0.0044	0	0.0011	0.0090	0.0012	0.0017	0.0057761	893	154602	rs113725585	0.0078	0.0078	0.0080	0.0075	0.0092	0.0077	0.0076	0.0091	0.0090	0.0016	0.0058	0.0034	5.04e-05	0.0030	0.0012	0.0092	0.0065	0.0015	0.0059	0.0059	0.0061	0.0057	0.0096	0.0056	0.0055	0.0090	0.0088	0.0016	0	0.0088	0.0026	0	0.0012	0.0102	0.0096	0.0047	0.0021	0.023	0.56456	D	0.017	0.63109	D	0.996	0.68779	D	0.799	0.58136	P	0.030966	0.25233	N	0.336128	0.609009	0.32604	D	1.795	0.47270	L	1.0	0.44461	T	-2.32	0.53420	N	0.497	0.53006	-0.8786	0.49872	T	0.088	0.33996	T	10	0.009842902	0.00221	T	.	.	.	0.062	0.17934	.	.	0.568072681961	0.56471	0.6215598268958934	0.62088	0.243842635264	0.26889	0.454351365566	0.32539	T	0.455751	0.79478	T	-0.591097	0.00165	T	-0.614882	0.11592	T	0.017556130032678	0.00489	T	0.916808	0.70203	D	0.07301502	0.16286	0.046360936	0.06445	0.07301502	0.16286	0.046360936	0.06445	-7.886	0.60291	D	.	.	0.130	0.27821	B	.;.	.;.	3.115647	0.42041	21.5	0.99849600338942979	0.92925	0.36903	0.25640	N	AEFBI	0.236058	0.35856	N	-0.265120164891743	0.30504	1.701518	-0.414692097980917	0.24565	1.345935	0.670256044278995	0.22367	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.1	2.09	0.26154	1.027000	0.29721	1.978000	0.30020	0.469000	0.21855	0.353000	0.25784	0.067000	0.22148	0.021000	0.11733	0.0:0.7127:0.0:0.2873	7.539	0.26896	884	0.28482	.;.	CMB9-55F22.1	Adipose_Subcutaneous	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1150.33	35	chr11	800563	.	C	T	1150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.017;DP=877;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=1.33;SOR=0.588	GT:AD:DP:GQ:PL	0/1:72,48:120:99:1164,0,1880	18	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	8543.31	218	chr11	1018290	.	G	A	8543.31	.	AC=14;AF=0.368;AN=38;BaseQRankSum=4.18;DP=5186;ExcessHet=31.086;FS=18.111;InbreedingCoeff=-0.8095;MLEAC=14;MLEAF=0.368;MQ=55.27;MQRankSum=-8.441;QD=1.76;ReadPosRankSum=1.38;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:222,27:265:99:.:.:465,0,9240:.	5	0	14	0
chr11	1095925	1095925	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1836.33	277	chr11	1095925	.	G	C	1836.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.163;DP=3200;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.31;MQRankSum=1.1;QD=14.35;ReadPosRankSum=-0.517;SOR=0.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,52:128:99:0|1:1095925_G_C:1850,0,2614:1095925	18	0	1	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	25958.0	336	chr11	1096086	.	G	*	25958.0	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.243;DP=6216;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2862;MLEAC=4;MLEAF=0.105;MQ=56.85;MQRankSum=0.894;QD=7.23;ReadPosRankSum=0;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,68:350:99:0|1:1096074_CGACACCCATCAGCACCACCACTACGGTGACCCCAACACCAACACCCACCGGCACACAGACCCCAACCCT_C:1456,0,10762:1096074	15	0	4	0
chr11	1096089	1096089	C	0	exonic	MUC2	.	.	.	.	524	547	439	2	10	453	0.288224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	37894.6	320	chr11	1096089	.	C	*	37894.6	.	AC=2;AF=0.059;AN=34;BaseQRankSum=0.739;DP=6464;ExcessHet=20.8569;FS=0.576;InbreedingCoeff=-0.7273;MLEAC=2;MLEAF=0.059;MQ=56.72;MQRankSum=-3.754;QD=7.4;ReadPosRankSum=3.56;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,67:255:99:0|1:1096089_C_*:1846,0,5020:1096089	15	0	2	2
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	16077.3	440	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	16077.3	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.72;DP=9243;ExcessHet=8.9063;FS=1.137;InbreedingCoeff=-0.4074;MLEAC=5;MLEAF=0.132;MQ=56.91;MQRankSum=-3.717;QD=4.25;ReadPosRankSum=-1.447;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:198,91:321:99:.:.:2143,0,10219:.	14	0	5	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1368.84	440	chr11	1096155	.	C	*	1368.84	.	AC=9;AF=0.265;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.294;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:198,91:321:99:.:.:2143,0,10219:.	8	0	9	2
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:198,91:321:99:.:.:2143,0,10219:.	9	0	10	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	685.62	440	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	685.62	.	AC=9;AF=0.25;AN=36;BaseQRankSum=2.47;DP=8861;ExcessHet=6.9875;FS=1.838;InbreedingCoeff=-0.3818;MLEAC=9;MLEAF=0.25;MQ=57.05;MQRankSum=-2.059;QD=0.2;ReadPosRankSum=1.49;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:198,91:321:99:.:.:2143,0,10219:.	9	0	9	1
chr11	1096182	1096182	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	522	823	174	0	3	177	0.0956044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0041	0.0003	0.0005	0.0017	0.0003	0.0003	0.0011	0.0009	0.0002	0.0010	0.0005	0.0017	0.0011	0.0014	0.0003	0.0005	0.0007	0.0005	0.0020	0.0004	0.0006	0.0012	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0012	0.0004	0.0008	0.0007	0	0.0005	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	1918.01	440	chr11	1096182	.	C	G	1918.01	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-3.937;DP=7957;ExcessHet=2.9153;FS=1.867;InbreedingCoeff=-0.3103;MLEAC=1;MLEAF=0.033;MQ=56.52;MQRankSum=2.34;QD=0.79;ReadPosRankSum=1.24;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,83:272:99:0|1:1096089_C_*:2787,0,6982:1096089	14	0	1	4
chr11	1096199	1096199	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0022	0.0004	0.0004	0.0020	0.0004	0.0004	0.0008	0.0005	0.0002	0.0001	0.0001	0.0003	0.0009	0.0020	0.0005	0.0004	0.0001	0.0006	0.0030	0.0006	0.0006	0.0011	0.0005	0.0004	0.0006	0.0005	0.0004	0	0.0011	0.0004	0	0.0015	0	0.0005	0.0023	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04545	1971.24	440	chr11	1096199	.	C	A	1971.24	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-0.773;DP=7095;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2667;MLEAC=1;MLEAF=0.045;MQ=56.71;MQRankSum=2.61;QD=1.37;ReadPosRankSum=1.44;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,83:273:99:0|1:1096089_C_*:2826,0,6424:1096089	10	0	1	8
chr11	1096203	1096203	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0.0001	0.0001	0.0011	9.972e-05	9.256e-05	0.0003	0.0002	0.0002	5.703e-05	0.0001	0.0002	0.0008	0.0011	9.713e-05	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	9.285e-05	0.0001	0	0.0003	0.0004	0	0.0006	0	0.0002	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1903.63	440	chr11	1096203	.	C	G	1903.63	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.724;DP=7076;ExcessHet=0.8031;FS=2.638;InbreedingCoeff=-0.2881;MLEAC=2;MLEAF=0.1;MQ=56.72;MQRankSum=2.71;QD=1.33;ReadPosRankSum=1.05;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,81:273:99:0|1:1096089_C_*:2753,0,6474:1096089	9	0	1	9
chr11	1096204	1096204	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.903e-05	0.0002	3.651e-05	6.272e-05	0.0004	3.589e-05	3.184e-05	3.007e-05	2.554e-05	5.541e-05	0	0	0.0002	0.0004	0.0004	4.324e-05	3.695e-05	2.866e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	9.271e-05	0.0001	7.539e-05	0.0001	0	0.0002	0	0	0.0005	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	.	.	.	.	.	.	.	.	0.04167	1953.89	440	chr11	1096204	.	C	T	1953.89	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.954;DP=7094;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=1;MLEAF=0.042;MQ=56.69;MQRankSum=2.72;QD=1.36;ReadPosRankSum=1.26;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,83:277:99:0|1:1096089_C_*:2798,0,6552:1096089	11	0	1	7
chr11	1096205	1096205	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331715518	5.555e-05	0.0002	4.671e-05	6.521e-05	0.0004	4.131e-05	3.718e-05	3.523e-05	3.057e-05	5.486e-05	0	0.0001	0.0002	0.0004	0.0004	4.969e-05	3.663e-05	2.84e-05	0.0002	0.0014	0.0002	0.0002	0.0002	0.0001	0.0001	9.879e-05	7.189e-05	0.0002	0	0.0002	0.0005	0	0.0004	0	0.0002	0.0008	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	.	.	.	.	.	.	.	.	0.04167	1953.89	440	chr11	1096205	.	C	A	1953.89	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.887;DP=7089;ExcessHet=0.8031;FS=1.883;InbreedingCoeff=-0.2459;MLEAC=1;MLEAF=0.042;MQ=56.78;MQRankSum=2.75;QD=1.37;ReadPosRankSum=1.2;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,83:276:99:0|1:1096089_C_*:2801,0,6510:1096089	11	0	1	7
chr11	1096217	1096217	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1383411252	3.37e-05	0.0001	2.95e-05	3.804e-05	6.233e-05	2.569e-05	2.293e-05	2.618e-05	2.286e-05	3.337e-05	0	0	6.233e-05	8.061e-05	0	3.549e-05	3.635e-05	0	6.457e-05	0.0003	6.971e-05	5.912e-05	0.0001	3.332e-05	2.494e-05	2.97e-05	1.948e-05	0	0	0.0001	0.0003	0	0.0001	0	7.773e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	2273.71	476	chr11	1096217	.	C	T	2273.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.026;DP=6899;ExcessHet=0;FS=6.702;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=56.97;MQRankSum=3.15;QD=8.3;ReadPosRankSum=-0.136;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,72:274:99:0|1:1096089_C_*:2287,0,8180:1096089	17	0	1	1
chr11	1096236	1096236	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175273454	0.0002	0.0003	0.0002	0.0002	0.0050	0.0002	0.0002	0.0043	0.0041	0.0050	0.0007	0	0	0	0.0005	3.986e-05	0.0004	7.907e-05	0.0017	0.0030	0.0018	0.0016	0.0057	0.0015	0.0015	0.0051	0.0048	0.0057	0	0.0011	0	0	0	0	8.926e-05	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2228.33	476	chr11	1096236	.	C	T	2228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.207;DP=6922;ExcessHet=0;FS=3.088;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=57.56;MQRankSum=1.87;QD=7.9;ReadPosRankSum=0.273;SOR=0.501	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,72:282:99:0|1:1096089_C_*:2242,0,8494:1096089	18	0	1	0
chr11	1096261	1096261	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325006662	0.0004	0.0005	0.0003	0.0005	0.0043	0.0004	0.0004	0.0036	0.0034	0.0043	0.0006	0.0015	8.784e-05	0.0002	0.0022	0.0001	0.0009	0.0026	0.0012	0.0014	0.0011	0.0013	0.0032	0.0011	0.0010	0.0028	0.0026	0.0032	0	0.0005	0.0038	0	0	0	0.0003	0.0005	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3901.83	476	chr11	1096261	.	C	T	3901.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.78;DP=7115;ExcessHet=0.119;FS=1.278;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.81;MQRankSum=2.85;QD=6.18;ReadPosRankSum=1.47;SOR=0.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,64:304:99:0|1:1096089_C_*:1801,0,9742:1096089	17	0	2	0
chr11	1096268	1096268	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335481389	3.698e-06	2.806e-05	2.915e-06	4.503e-06	3.064e-05	1.08e-06	7.9e-07	7.6e-07	2.1e-07	0	2.932e-05	0	3.064e-05	0	0	2.845e-06	0	0	6.459e-05	0.0005	7.126e-05	5.742e-05	0.0001	2.979e-05	2.121e-05	2.918e-05	1.508e-05	0.0001	0	0.0001	0	0	0.0002	0	3.73e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1888.33	476	chr11	1096268	.	A	C	1888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.174;DP=7198;ExcessHet=0;FS=2.323;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.42;MQRankSum=-0.446;QD=5.99;ReadPosRankSum=0.533;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,69:315:99:0|1:1096089_C_*:1902,0,9979:1096089	18	0	1	0
chr11	1096270	1096272	GAG	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1833.29	476	chr11	1096269	.	AGAG	A	1833.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.604;DP=7202;ExcessHet=0;FS=1.661;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.44;MQRankSum=-0.536;QD=5.77;ReadPosRankSum=0.18;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,68:318:99:0|1:1096089_C_*:1847,0,10150:1096089	18	0	1	0
chr11	1096274	1096274	-	CCC	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1779.29	476	chr11	1096274	.	A	ACCC	1779.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.4;DP=7205;ExcessHet=0;FS=2.328;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.62;MQRankSum=-0.831;QD=5.54;ReadPosRankSum=0.178;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,67:321:99:0|1:1096089_C_*:1793,0,10322:1096089	18	0	1	0
chr11	1098431	1098431	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368067328	0.0015	0.0015	0.0015	0.0014	0.0043	0.0013	0.0013	0.0031	0.0027	0.0043	0.0011	0.0008	0.0009	0.0020	0	0.0017	0.0022	0.0003	0.0015	0.0011	0.0020	0.0012	0.0042	0.0006	0.0004	0.0007	0.0003	0.0014	0	0.0042	0	0	0.0040	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	61.35	71	chr11	1098431	.	C	A	61.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.548;DP=885;ExcessHet=0;FS=3.694;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=44.7;MQRankSum=-3.116;QD=1.25;ReadPosRankSum=-0.181;SOR=0.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,9:49:75:0|1:1098431_C_A:75,0,1243:1098431	18	0	1	0
chr11	1098628	1098628	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	567	933	22	0	0	22	0.0116525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356651919	0.0006	0.0088	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0.0003	0.0003	0.0007	0.0002	0.0028	0	0.0006	0.0007	0.0002	0.0023	0.0060	0.0021	0.0026	0.0035	0.0021	0.0020	0.0030	0.0028	0.0006	0.0051	0.0018	0.0018	0.0003	0.0067	0.0088	0.0035	0	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	.	.	.	.	.	.	.	.	0.08824	301.13	461	chr11	1098628	.	C	G	301.13	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.4;DP=4936;ExcessHet=0.3672;FS=5.27;InbreedingCoeff=-0.1157;MLEAC=3;MLEAF=0.088;MQ=49.5;MQRankSum=-3.884;QD=0.32;ReadPosRankSum=0.566;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,24:207:99:0|1:1098609_A_G:203,0,7138:1098609	14	0	3	2
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10864.2	243	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	10864.2	.	AC=6;AF=0.25;AN=24;BaseQRankSum=0.547;DP=5993;ExcessHet=10.1553;FS=0;InbreedingCoeff=-0.334;MLEAC=8;MLEAF=0.333;MQ=52.45;MQRankSum=-1.475;QD=4.61;ReadPosRankSum=-0.914;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,34:109:99:.:.:2095,0,2105:.	6	0	6	7
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	76561.1	246	chr11	1099370	.	G	*	76561.1	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.87;DP=5970;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=52.86;MQRankSum=-0.915;QD=21.15;ReadPosRankSum=0.851;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,34:113:99:.:.:5346,2455,2676:.	10	0	9	0
chr11	1099415	1099415	C	0	exonic	MUC2	.	.	.	.	554	933	23	0	12	35	0.0121758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	324.19	223	chr11	1099415	.	C	*	324.19	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.507;DP=5994;ExcessHet=0.3476;FS=1.872;InbreedingCoeff=0.1265;MLEAC=3;MLEAF=0.375;MQ=50.32;MQRankSum=4.16;QD=1.04;ReadPosRankSum=-1.363;SOR=0.807	GT:AD:DP:GQ:PL	0/1:134,41:182:99:1410,0,5590	3	0	1	15
chr11	1099525	1099525	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	444	1077	1	0	0	1	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0478116854228	.	.	0.0004	0	0	0	0	0.0007	0	0.0003	7.76e-05	12	154602	rs746097670	0.0001	0.0011	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	3.451e-05	0	4.45e-05	0	2.277e-05	0.0004	0.0002	0.0001	8.25e-05	9.239e-05	0.0002	5.164e-05	0.0001	0.0002	5.551e-05	4.383e-05	9.087e-05	7.04e-05	2.417e-05	0	6.569e-05	0	0	0	0	0.0002	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	0.001190	0.000000	0.001761	0.003356	0.000000	0.000000	0.000000	0.000000	0.02778	568.71	499	chr11	1099525	.	C	T	568.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.518;DP=7594;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=54.61;MQRankSum=1.78;QD=1.87;ReadPosRankSum=1.4;SOR=0.56	GT:AD:DP:GQ:PL	0/1:250,54:311:99:582,0,9271	17	0	1	1
chr11	1629952	1629952	T	C	exonic	KRTAP5-5	.	nonsynonymous SNV	KRTAP5-5:NM_001001480:exon1:c.T112C:p.C38R	.	494	1009	12	0	7	19	0.00591133	.	.	.	2340960	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0174186786563	.	.	0.0010	0.0021	0.0017	0.0001	0.0005	0.0011	0.0012	0.0002	0.0008344	129	154602	rs767745193	0.0044	0.0047	0.0044	0.0043	0.0103	0.0043	0.0042	0.0078	0.0070	0.0048	0.0030	0.0109	0.0005	0.0032	0.0103	0.0046	0.0054	0.0006	0.0050	0.0055	0.0051	0.0049	0.0052	0.0047	0.0046	0.0047	0.0046	0.0052	0	0.0045	0.0158	0.0014	0.0041	0.0074	0.0052	0.0056	0.0010	0.0	0.91255	D	0.001	0.83351	D	0.068	0.23728	B	0.035	0.22741	B	.	.	.	.	0.997928	0.44325	D	2.505	0.72935	M	5.01	0.01308	T	-3.3	0.65858	D	0.335	0.37613	-1.0285	0.20940	T	0.009	0.03183	T	9	0.0067453682	0.00153	T	0.017419	0.39111	T	0.088	0.25558	.	.	0.19670166235	0.19296	0.5047133293395497	0.50393	0.334685067799	0.35479	.	.	.	0.079866	0.36229	T	-0.5274	0.00398	T	-0.529121	0.19374	T	0.08241149117952	0.10294	T	.	.	.	0.6553897	0.75652	0.6008041	0.76808	0.6553897	0.75653	0.6008041	0.76809	-9.192	0.68924	D	.	.	0.194	0.41418	B	.	.	1.886593	0.23966	16.22	0.58535751823354942	0.06016	0.37812	0.25846	N	AEFBI	0.136667	0.25740	N	-0.337679790406946	0.27727	1.523626	-0.367078960223159	0.25985	1.432474	6.51047893142699E-4	0.07527	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.47	2.47	0.29113	2.038000	0.40805	0.687000	0.20730	0.515000	0.23462	0.985000	0.35982	0.988000	0.31051	0.011000	0.09372	0.0:0.0:0.0:1.0	8.790	0.34003	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009615	0.010309	0.008152	0.029167	0.000000	0.017241	0.003125	0.000000	0.02632	766.33	75	chr11	1629952	.	T	C	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.103;DP=1771;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.96;MQRankSum=-2.321;QD=11.27;ReadPosRankSum=1.36;SOR=0.542	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,27:68:99:0|1:1629890_G_T:780,0,1660:1629890	18	0	1	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	57352.6	206	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	57352.6	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.38;DP=3777;ExcessHet=0.1504;FS=1.658;InbreedingCoeff=0.2083;MLEAC=13;MLEAF=0.342;MQ=58.69;MQRankSum=-5.209;QD=18.99;ReadPosRankSum=0.122;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,84:155:99:.:.:5796,2473,2936:.	8	2	9	0
chr11	2922506	2922506	A	G	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon8:c.A743G:p.N248S,SLC22A18:NM_001315501:exon10:c.A1292G:p.N431S,SLC22A18:NM_002555:exon10:c.A1037G:p.N346S,SLC22A18:NM_183233:exon10:c.A1037G:p.N346S	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.117548589647	7.7e-05	.	8.828e-06	0	0	0	0	0	0	6.478e-05	6.5e-06	1	154602	rs143509928	4.107e-06	4.104e-06	2.724e-06	5.504e-06	4.644e-05	1.48e-06	9.7e-07	1.584e-05	9.31e-06	0	0	0	0	0	0	8.994e-07	1.657e-05	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.26629	T	0.109	0.39190	T	0.097	0.38380	B	0.056	0.39801	B	0.005938	0.32398	N	0.288442	0.999995	0.08975	N	2.065	0.56745	M	-1.42	0.80645	T	-1.99	0.56945	N	0.466	0.51226	-0.7497	0.57951	T	0.345	0.70996	T	10	0.18368408	0.33707	T	0.117549	0.79735	D	0.244	0.55061	.	.	0.803246272748	0.80140	0.24764755615228815	0.24678	0.21105830166	0.23610	0.545429646969	0.45212	T	0.004715	0.04123	T	-0.00425815	0.51066	T	-0.243893	0.50417	T	0.177340939640999	0.19066	T	0.788921	0.44280	T	0.058431935	0.11754	0.058048602	0.10660	0.058431935	0.11753	0.058048602	0.10660	-4.131	0.25745	T	.	.	0.128	0.27373	B	.;.;.;.;.	.;.;.;.;.	1.266732	0.16649	12.68	0.97170742062610493	0.32673	0.60470	0.31205	D	AEFDBI	0.284379	0.39725	N	-0.299505146179327	0.29167	1.615113	-0.243187699455136	0.30007	1.685839	0.665632040532872	0.22319	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.75	3.63	0.40741	1.748000	0.37935	2.537000	0.33196	0.740000	0.86194	0.986000	0.36153	0.874000	0.27626	0.303000	0.24570	0.6296:0.1813:0.1891:0.0	4.035	0.09209	970	0.06235	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	561.33	33	chr11	2922506	.	A	G	561.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.358;DP=714;ExcessHet=0;FS=5.291;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=1.58;SOR=1.033	GT:AD:DP:GQ:PL	0/1:31,25:56:99:575,0,718	18	0	1	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.1316	10144.4	168	chr11	4653052	.	A	G	10144.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.83;DP=2413;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.444;SOR=0.745	GT:AD:DP:GQ:PL	0/1:82,64:146:99:1617,0,2183	14	0	5	0
chr11	5736889	5736889	C	G	exonic	OR56B1	.	nonsynonymous SNV	OR56B1:NM_001005180:exon1:c.C373G:p.L125V	.	428	1091	2	1	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00499201	0.0033	0	8.717e-05	0	0	2.999e-05	0.0022	0.0240	0.0028137	435	154602	rs199733222	0.0014	0.0014	0.0008	0.0020	0.0215	0.0013	0.0013	0.0207	0.0203	5.974e-05	2.239e-05	0	2.521e-05	5.617e-05	0.0007	4.137e-05	0.0020	0.0215	0.0007	0.0007	0.0003	0.0011	0.0210	0.0006	0.0006	0.0176	0.0164	0	0	0	0	0	9.423e-05	0	5.881e-05	0.0009	0.0210	0.257	0.16738	T	0.283	0.21478	T	0.034	0.20480	B	0.05	0.25278	B	0.001155	0.40056	U	0.000000	0.956305	0.26303	N	0.665	0.16292	N	8.16	0.00284	T	-1.45	0.35597	N	0.126	0.11912	-0.9990	0.30199	T	0.001	0.00222	T	10	0.0045159757	0.00093	T	.	.	.	0.086	0.25016	0.52	0.62217	0.136095386433	0.13204	0.06898596960187361	0.06836	.	.	0.176439806819	0.00066	T	0.010935	0.09820	T	-0.59529	0.00156	T	-0.610284	0.11962	T	0.0245600516056853	0.01216	T	0.623338	0.24021	T	0.103497215	0.24462	0.106915556	0.25730	0.103497215	0.24462	0.106915556	0.25729	-3.873	0.21898	T	.	.	0.159	0.35098	B	.	.	-0.059148	0.03892	0.852	0.96217124139692989	0.29075	0.07628	0.13636	N	AEFGBI	0.079121	0.15975	N	-0.551171561374211	0.20447	1.077941	-0.467672504592501	0.23049	1.255031	0.986517672045379	0.31077	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.91	4.02	0.45968	-2.068000	0.01470	.	.	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.0:0.7822:0.1411:0.0767	9.795	0.39894	823	0.40596	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	0.001511	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.02632	2434.33	190	chr11	5736889	.	C	G	2434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.093;DP=1915;ExcessHet=0;FS=1.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-2.506;SOR=0.796	GT:AD:DP:GQ:PL	0/1:113,102:215:99:2448,0,2965	18	0	1	0
chr11	5857288	5857288	T	C	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.A415G:p.T139A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00359425	0.0020	9.96e-05	0	0	0	0	0.0011	0.0145	0.0016817	260	154602	rs547108567	0.0008	0.0008	0.0004	0.0012	0.0125	0.0008	0.0007	0.0119	0.0117	0	0	0	2.519e-05	0	0.0002	5.396e-06	0.0012	0.0125	0.0005	0.0005	0.0002	0.0007	0.0143	0.0004	0.0003	0.0116	0.0106	2.555e-05	0	0	0	0	0	0	0	0	0.0143	0.07	0.35349	T	0.298	0.20486	T	0.016	0.17332	B	0.013	0.16460	B	0.152509	0.17920	N	0.506349	0.883924	0.35808	D	0.43	0.12624	N	2.16	0.19166	T	-2.22	0.49846	N	0.023	0.00407	-1.0157	0.25110	T	0.037	0.15856	T	10	0.0039965212	0.00077	T	.	.	.	0.047	0.12962	0.543	0.65589	0.115124310173	0.11017	0.07881351686523443	0.07816	0.0033011964445	0.00282	0.245883435011	0.03346	T	0.004556	0.03958	T	-0.623602	0.00104	T	-0.657507	0.08435	T	0.0170431293472675	0.00452	T	0.336666	0.07200	T	0.08978743	0.20991	0.095013835	0.22514	0.08978743	0.20990	0.095013835	0.22513	-3.913	0.22497	T	.	.	0.073	0.04806	B	.	.	2.707742	0.35383	19.88	0.97420925554893179	0.33875	0.03612	0.08845	N	AEFI	0.060840	0.11589	N	-0.769896815285989	0.14098	0.6996129	-0.755128710014527	0.15597	0.8210632	2.40147478461847E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	1.8	0.24069	-1.734000	0.01948	.	.	0.638000	0.52053	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3193:0.0:0.1652:0.5154	5.089	0.14035	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.02632	2161.33	34	chr11	5857288	.	T	C	2161.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.503;DP=848;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.019;SOR=0.651	GT:AD:DP:GQ:PL	0/1:85,87:172:99:2175,0,2500	18	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	690.21	161	chr11	6200107	.	C	G	690.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-6.451;DP=2311;ExcessHet=4.0268;FS=110.401;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.63;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:137,21:163:99:.:.:271,0,5173:.	11	0	8	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	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	.	.	.	.	.	.	.	.	0.2368	1154.82	35	chr11	6200109	.	C	G	1154.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-6.448;DP=2227;ExcessHet=5.3738;FS=120.687;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.45;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,37:174:99:0|1:6200108_C_G:315,0,5160:6200108	10	0	9	0
chr11	7691973	7691973	A	G	exonic	OVCH2	.	nonsynonymous SNV	OVCH2:NM_198185:exon13:c.T1436C:p.I479T	.	.	.	.	.	.	.	.	.	.	.	3469902	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00469459798419	0.0002	.	0.0001	0	0.0010	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367874438	6.615e-05	6.704e-05	6.124e-05	7.116e-05	0.0001	5.515e-05	5.119e-05	6.644e-05	5.388e-05	0	0	0	0	0	0	7.158e-05	0.0001	0.0001	5.915e-05	5.911e-05	7.708e-05	4.036e-05	8.819e-05	3.078e-05	2.21e-05	3.762e-05	2.575e-05	7.238e-05	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.023021	0.26524	N	0.268702	0.999442	0.21182	N	.	.	.	.	.	.	.	.	.	0.3	0.33904	-1.0704	0.09326	T	0.039	0.16978	T	10	0.08452457	0.14175	T	0.004695	0.11660	T	.	.	.	.	0.226586394389	0.22295	0.5168185919321072	0.51604	.	.	0.471952199936	0.34948	T	0.032766	0.22630	T	-0.0636517	0.42333	T	-0.0695286	0.65659	T	0.837069034576416	0.49090	D	0.739226	0.35772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30765	B	.;.	.;.	3.044420	0.40826	21.2	0.99309170776257294	0.58943	0.77278	0.37978	D	AEFBHCIJ	0.124716	0.24090	N	0.0645996812780982	0.44815	2.748879	0.0991468785882716	0.44505	2.731047	0.996727954942703	0.34958	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	5.09	2.7	0.31007	3.172000	0.50532	3.313000	0.37480	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.8179:0.0:0.1821:0.0	7.241	0.25272	793	0.45818	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	882.33	39	chr11	7691973	.	A	G	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.963;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-1.042;SOR=0.671	GT:AD:DP:GQ:PL	0/1:41,36:77:99:896,0,1021	18	0	1	0
chr11	8474715	8474715	T	C	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001289061:exon2:c.A191G:p.N64S,STK33:NM_001352393:exon2:c.A191G:p.N64S,STK33:NM_001352396:exon2:c.A68G:p.N23S,STK33:NM_001352397:exon2:c.A68G:p.N23S,STK33:NM_001352399:exon2:c.A191G:p.N64S,STK33:NM_001289058:exon3:c.A68G:p.N23S,STK33:NM_001352387:exon3:c.A191G:p.N64S,STK33:NM_001352391:exon3:c.A191G:p.N64S,STK33:NM_001352394:exon3:c.A68G:p.N23S,STK33:NM_001352395:exon3:c.A68G:p.N23S,STK33:NM_001352398:exon3:c.A68G:p.N23S,STK33:NM_030906:exon3:c.A191G:p.N64S,STK33:NM_001352388:exon4:c.A191G:p.N64S,STK33:NM_001352390:exon4:c.A191G:p.N64S,STK33:NM_001352392:exon4:c.A191G:p.N64S,STK33:NM_001352389:exon5:c.A191G:p.N64S	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0135606574936	.	0.000199681	0.0003	0	0	0	0	4.573e-05	0	0.0018	0.0002199	34	154602	rs570390366	0.0001	0.0001	8.045e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	0	0	0	0	0.0003	3.06e-05	0.0001	0.0017	4.597e-05	4.593e-05	5.14e-05	4.029e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	2.407e-05	0	6.537e-05	0	0	0	0	0	0	0.0010	0.324	0.15047	T	0.77	0.21947	T	0.002	0.09854	B	0.001	0.04355	B	0.233437	0.03533	N	1.582870	1	0.08975	N	1.04	0.26193	L	-0.41	0.70365	T	0.1	0.09965	N	0.006	0.04072	-1.0378	0.17985	T	0.148	0.47451	T	10	0.008244723	0.00187	T	0.013561	0.33056	T	0.032	0.07718	0.186	0.09517	0.306053231325	0.30222	0.104759688149967	0.10405	0.0613836107594	0.06837	0.271363794804	0.06319	T	0.003726	0.08381	T	-0.60164	0.00142	T	-0.656005	0.08539	T	0.0424917169353681	0.04145	T	0.266073	0.04370	T	0.0163152	0.00190	0.019035386	0.00075	0.0163152	0.00189	0.019035386	0.00074	-3.07	0.10954	T	.	.	0.072	0.08899	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-2.515550	0.00031	0.001	0.1731051690130232	0.00499	0.00464	0.02234	N	AEI	0.094336	0.19076	N	-1.8900344798874	0.00360	0.01546363	-1.97750789674643	0.00341	0.01507939	3.62914443323609E-4	0.06707	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.98	-5.77	0.02176	-3.802000	0.00408	-2.544000	0.03626	-1.618000	0.00872	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1247:0.2632:0.233:0.3791	1.332	0.02008	453	0.79178	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1311.33	36	chr11	8474715	.	T	C	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.92;DP=724;ExcessHet=0;FS=1.91;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.583;SOR=0.495	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1325,0,1316	18	0	1	0
chr11	9850160	9850160	C	T	exonic	SBF2	.	nonsynonymous SNV	SBF2:NM_030962:exon22:c.G2669A:p.R890Q	Charcot-Marie-Tooth disease, type 4B2, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	YES	315619	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4|Charcot-Marie-Tooth_disease_type_4B2	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0011475,MedGen:C1858278,OMIM:604563,Orphanet:99956	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.677	0.100575647352	.	.	8.259e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs755699993	1.095e-05	1.094e-05	1.361e-05	8.251e-06	0.0004	6.48e-06	5.24e-06	6.511e-05	4.449e-05	0	0	0	0.0002	0	0.0004	2.698e-06	1.656e-05	4.638e-05	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.055235	1	0.81001	D	2.905	0.84014	M	-2.26	0.87352	D	-3.69	0.70432	D	0.829	0.82458	0.763	0.93958	D	0.834	0.94433	D	10	0.8903128	0.88371	D	0.100576	0.77294	D	0.677	0.88109	0.671	0.80903	0.985054221862	0.98489	0.7460584476303946	0.74551	0.77655175274	0.65064	0.796203732491	0.81385	T	0.909374	0.98281	D	0.451357	0.92542	D	0.410567	0.92449	D	0.999169588088989	0.96394	D	0.973503	0.90460	D	0.74414164	0.80530	0.68330246	0.81383	0.74414164	0.80532	0.68330246	0.81384	-13.157	0.89999	D	0.7841034550047217	0.86357	0.810	0.77773	P	.	.	4.660287	0.74384	26.1	0.99961265146172373	0.99997	0.98476	0.83180	D	AEFBI	0.918393	0.88738	D	0.976478965783813	0.94974	13.19939	0.951860413349326	0.97459	16.16587	0.999999999999961	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.567339	0.31927	0	.	.	6.17	6.17	0.99707	7.900000	0.86025	7.629000	0.62648	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.879	0.99870	484	0.77165	GRAM domain|GRAM domain|Myotubularin-related protein 13, PH-GRAM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	698.33	39	chr11	9850160	.	C	T	698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.746;DP=718;ExcessHet=0;FS=2.875;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.2;ReadPosRankSum=0.129;SOR=1.095	GT:AD:DP:GQ:PL	0/1:64,33:97:99:712,0,1533	18	0	1	0
chr11	17356876	17356876	G	A	exonic	NCR3LG1	.	nonsynonymous SNV	NCR3LG1:NM_001202439:exon2:c.G296A:p.R99K	.	.	.	.	.	.	.	.	.	.	.	4037405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00547861008299	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs749706676	6.576e-05	6.225e-05	7.704e-05	5.418e-05	7.879e-05	5.452e-05	5.05e-05	6.516e-05	6.003e-05	0	0	0	0	8.851e-05	0	7.879e-05	1.727e-05	2.524e-05	8.539e-05	8.536e-05	5.137e-05	0.0001	0.0002	4.956e-05	3.961e-05	0.0001	7.893e-05	0	0	0	0	0	9.407e-05	0	0.0002	0	0	0.655	0.04772	T	0.243	0.24193	T	0.013	0.16609	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	4.25	0.02564	T	-0.3	0.11913	N	0.043	0.01577	-0.9000	0.47993	T	0.005	0.01725	T	9	0.030959904	0.01227	T	0.005479	0.14106	T	0.034	0.08419	0.474	0.55020	0.0297737177859	0.01360	0.5103482713895219	0.50956	.	.	0.310848176479	0.12035	T	0.001471	0.00925	T	-0.589734	0.00168	T	-0.766816	0.02875	T	0.0328683954453753	0.02450	T	.	.	.	0.30986956	0.53775	0.08097794	0.18365	0.30986956	0.53775	0.08097794	0.18365	-3.762	0.20238	T	.	.	0.125	0.26263	B	.	.	1.660351	0.21177	15.08	0.62497151968310016	0.06978	0.01868	0.05758	N	AEFBI	0.026156	0.01914	N	-1.15166414444736	0.05753	0.2630765	-1.14995777553357	0.06768	0.3269349	0.778715914686349	0.23800	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.35	1.36	0.21139	0.220000	0.17445	0.272000	0.16669	0.618000	0.50648	0.011000	0.18532	0.000000	0.08366	0.406000	0.26916	0.2139:0.0:0.5872:0.1989	3.556	0.07417	557	0.71576	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1487.33	37	chr11	17356876	.	G	A	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.12;SOR=0.689	GT:AD:DP:GQ:PL	0/1:72,54:126:99:1501,0,1934	18	0	1	0
chr11	30906566	30906566	G	A	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon11:c.C1399T:p.P467S,DCDC1:NM_001367979:exon30:c.C4078T:p.P1360S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.00788097369726	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1470375713	1.369e-06	1.368e-06	0	2.752e-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	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	.	.	.	0.02	0.60972	D	.	.	.	.	.	.	0.003460	0.34930	N	0.204188	1	0.08975	N	.	.	.	1.59	0.28836	T	.	.	.	0.358	0.50958	-0.9772	0.35638	T	0.154	0.48430	T	9	0.3555684	0.52315	T	0.007881	0.20903	T	0.363	0.68319	.	.	0.464612977235	0.46086	0.07465628943938202	0.07401	.	.	0.312831878662	0.12334	T	.	.	.	-0.148635	0.28526	T	-0.435794	0.29280	T	0.255310488303569	0.23109	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	-2.864	0.08788	T	.	.	0.204	0.54427	B	.;.	.;.	1.976043	0.25106	16.64	0.98707176409152375	0.44996	0.33527	0.24849	N	AEFIJ	0.090814	0.18400	N	0.173868685833933	0.49948	3.189618	0.0983364199790795	0.44464	2.727773	5.94682407771479E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.86	2.86	0.32427	1.167000	0.31456	4.058000	0.41564	0.676000	0.76740	0.891000	0.31220	1.000000	0.68203	0.362000	0.25931	0.1555:0.0:0.703:0.1415	7.121	0.24619	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	873.33	34	chr11	30906566	.	G	A	873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.914;DP=703;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.37;SOR=0.562	GT:AD:DP:GQ:PL	0/1:29,36:65:99:887,0,732	18	0	1	0
chr11	31783490	31783490	T	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.T1241C:p.M414T	.	424	1094	4	0	0	4	0.00182482	.	.	.	693005	not_provided|not_specified|ELP4-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.00463023244741	0.0015	.	0.0008	0.0006	8.643e-05	0	0.0005	0.0012	0.0011	0.0005	0.0008991	139	154602	rs200018893	0.0015	0.0015	0.0016	0.0014	0.0018	0.0014	0.0014	0.0017	0.0017	0.0002	0.0002	0	0	0.0006	0.0012	0.0018	0.0011	0.0006	0.0010	0.0010	0.0011	0.0008	0.0017	0.0008	0.0008	0.0015	0.0014	0.0004	0	0.0003	0	0	0.0005	0	0.0017	0	0	0.597	0.05686	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.19072	N	.	.	.	1.09	0.39223	T	0.03	0.06612	N	.	.	-0.9999	0.29945	T	0.067	0.27708	T	9	0.0116990805	0.00254	T	0.00463	0.11472	T	0.045	0.12272	.	.	0.128392430309	0.12331	.	.	0.0564535729519	0.06238	0.282495081425	0.07842	T	0.006188	0.05627	T	-0.646184	0.00076	T	-0.700022	0.05824	T	0.000848177014579988	0.00008	T	0.475352	0.14216	T	0.053250786	0.10048	0.088017575	0.20495	0.053250786	0.10048	0.088017575	0.20494	-2.225	0.04163	T	.	.	0.088	0.11701	B	.;.	.;.	0.369904	0.07422	4.053	0.56455259051439732	0.05556	0.12454	0.17279	N	AEFDIJ	0.013766	0.00195	N	-1.03786454232493	0.07828	0.3649684	-1.00873588633329	0.09592	0.4781257	0.00782027977440591	0.11550	0.626454	0.40138	0	0.659464	0.62310	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.73	-4.72	0.03032	0.715000	0.25493	-1.826000	0.04656	-0.120000	0.14102	0.653000	0.28198	0.000000	0.08366	0.992000	0.67800	0.0:0.5858:0.2339:0.1803	10.270	0.42658	374	0.84073	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1232.33	33	chr11	31783490	.	T	C	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.561;DP=739;ExcessHet=0;FS=1.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.33;SOR=0.527	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1246,0,1389	18	0	1	0
chr11	34139397	34139397	G	A	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon21:c.G2105A:p.R702Q,NAT10:NM_024662:exon23:c.G2321A:p.R774Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.023550133698	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs779649525	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.68	0.94442	H	0.67	0.52187	T	-3.83	0.72120	D	0.815	0.81063	0.059	0.83420	D	0.423	0.76783	T	10	0.87277627	0.86552	D	0.02355	0.46515	T	0.499	0.78288	0.663	0.80098	0.86862714507	0.86734	0.8167882846394604	0.81634	0.612704788932	0.55857	0.768080174923	0.77137	T	0.423129	0.77399	T	0.22194	0.75960	D	0.0810257	0.75647	D	0.998904466629028	0.95536	D	0.997769	0.99073	D	0.7314324	0.79804	0.6619202	0.80188	0.7314324	0.79805	0.6619202	0.80189	-10.679	0.77868	D	.	.	0.962	0.88297	P	.;.;.	.;.;.	5.537972	0.91934	32	0.99948964568543419	0.99931	0.98268	0.81101	D	AEFBCI	0.913799	0.87627	D	0.993558453252528	0.95543	13.72093	0.907603292375264	0.95896	14.081	0.999999999989196	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	9.903000	0.98630	9.928000	0.82558	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.523000	0.29544	0.0:0.0:1.0:0.0	19.010	0.92847	338	0.86082	Possible tRNA binding domain;.;Possible tRNA binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	34.33	33	chr11	34139397	.	G	A	34.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.389;DP=793;ExcessHet=0;FS=61.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.21;ReadPosRankSum=0.163;SOR=6.344	GT:AD:DP:GQ:PL	0/1:136,25:161:48:48,0,3574	18	0	1	0
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D,RAG2:NM_001243785:exon3:c.G1230C:p.E410D,RAG2:NM_001243786:exon3:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	162.23	33	chr11	36592939	.	C	G	162.23	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-4.758;DP=2093;ExcessHet=0.7564;FS=197.593;InbreedingCoeff=-0.2301;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.28;SOR=10.175	GT:AD:DP:GQ:PL	0/1:84,16:119:99:105,0,1990	9	0	4	6
chr11	46518425	46518425	G	A	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001267782:exon9:c.C1804T:p.R602W	.	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs528703185	0	3.975e-05	0	0	.	0	0	.	.	0	0	0	0	0	.	0	0	0	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0002	0.0007	0.0006	0.0011	0	0.0009	0	0	0	0	5.509e-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	.	.	.	.	.	.	.	.	0.03333	125.43	7	chr11	46518425	.	G	A	125.43	.	AC=1;AF=0.033;AN=30;BaseQRankSum=0.303;DP=338;ExcessHet=0;FS=0;InbreedingCoeff=-0.0998;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=17.92;ReadPosRankSum=0;SOR=1.981	GT:AD:DP:GQ:PL	0/1:2,5:7:33:137,0,33	14	0	1	4
chr11	48130501	48130501	C	T	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon8:c.C1400T:p.T467M,PTPRJ:NM_002843:exon8:c.C1400T:p.T467M	Colon cancer, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0394444168347	0.0004	.	0.0002	0	0	0	0.0002	0.0003	0	0.0001	0.000194	30	154602	rs148162486	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	2.99e-05	8.956e-05	0.0002	0	3.744e-05	0.0003	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	4.816e-05	0	0.0005	0.0003	0	0	0	0.0004	0.0005	0.0002	0.124	0.27426	T	0.089	0.54934	T	0.403	0.34918	B	0.062	0.26930	B	.	.	.	.	1	0.08975	N	1.415	0.35607	L	0.56	0.54540	T	-3.02	0.62630	D	0.109	0.10483	-0.9112	0.46707	T	0.135	0.44914	T	9	0.05774644	0.06680	T	0.039444	0.58814	D	0.104	0.29647	.	.	0.43965937752	0.43585	0.4371215117246725	0.43629	0.280752349232	0.30549	0.263269484043	0.05286	T	0.212157	0.78148	T	-0.508358	0.00513	T	-0.649924	0.08958	T	0.0436991628206849	0.04366	T	0.59464	0.24680	T	0.023819257	0.01156	0.07671443	0.17018	0.023819257	0.01155	0.07671443	0.17017	-7.938	0.60647	D	.	.	0.137	0.30739	B	.;.;.;.	.;.;.;.	-0.007021	0.04236	1.043	0.99253074996885593	0.56957	0.02988	0.07843	N	AEFGBI	0.053671	0.09690	N	-0.922774750199099	0.10310	0.4920998	-1.07170833804899	0.08260	0.4053849	0.999964471298563	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.71	-2.81	0.05459	-0.873000	0.04322	.	.	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4484:0.0:0.5516	10.949	0.46533	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1281.33	35	chr11	48130501	.	C	T	1281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.568;DP=729;ExcessHet=0;FS=1.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.56;SOR=0.906	GT:AD:DP:GQ:PL	0/1:46,54:100:99:1295,0,1144	18	0	1	0
chr11	54603676	54603676	G	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C323T:p.A108V	.	428	1078	15	1	0	17	0.00782329	.	.	.	2816628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.00083339266817	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs141105102	0.0073	0.0073	0.0075	0.0071	0.0108	0.0072	0.0072	0.0086	0.0081	0.0025	0.0031	0.0033	2.519e-05	0.0101	0.0108	0.0083	0.0055	0.0028	0.0058	0.0058	0.0061	0.0054	0.0079	0.0054	0.0053	0.0074	0.0072	0.0023	0.0440	0.0029	0.0014	0	0.0113	0.0170	0.0079	0.0043	0.0035	0.502	0.07695	T	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.94	0.00616	T	-1.59	0.38345	N	0.051	0.02272	.	.	.	.	.	.	.	0.0044759214	0.00092	T	.	.	.	.	.	.	.	.	.	0.839252078042215	0.83885	.	.	.	.	.	0.005303	0.04751	T	.	.	.	.	.	.	.	.	.	0.50065	0.15660	T	.	.	.	.	.	.	.	.	-5.348	0.40415	T	.	.	0.100	0.17189	B	.	.	0.743669	0.11133	7.775	.	.	.	.	.	.	0.027643	0.02294	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.014000	0.12594	.	.	-1.045000	0.01654	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05263	3918.83	41	chr11	54603676	.	G	A	3918.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.406;DP=1609;ExcessHet=0.119;FS=3.079;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.94;MQRankSum=1.03;QD=12.76;ReadPosRankSum=2.49;SOR=0.89	GT:AD:DP:GQ:PL	0/1:80,62:142:99:1719,0,2300	17	0	2	0
chr11	55993868	55993868	G	A	exonic	OR5F1	.	nonsynonymous SNV	OR5F1:NM_003697:exon1:c.C758T:p.A253V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00228134455281	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357198027	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0002	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0.0002	8.993e-07	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.004	0.74150	D	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.665	0.02058	N	1.31	0.35405	T	-2.81	0.59389	D	0.112	0.09914	-1.0075	0.27696	T	0.040	0.17404	T	9	0.06813869	0.09594	T	0.002281	0.04369	T	0.063	0.18251	0.618	0.75232	0.17258766438	0.16869	0.06325553919893287	0.06264	0.0115365840659	0.01082	0.175625368953	0.00060	T	0.008567	0.07859	T	-0.389882	0.02695	T	-0.714949	0.05043	T	0.0625779311944859	0.07570	T	0.0237976	0.00141	T	0.11246496	0.26568	0.108594805	0.26160	0.11246496	0.26568	0.108594805	0.26160	-4.387	0.29381	T	.	.	0.114	0.22573	B	.	.	1.893595	0.24054	16.25	0.95963295818665173	0.28306	0.00980	0.03737	N	AEFI	0.018740	0.00592	N	-1.15739805707408	0.05659	0.2585616	-1.1803907556998	0.06238	0.2996295	1.10228645761253E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.99	0.198	0.14448	-0.472000	0.06702	-20.000000	0.00162	0.312000	0.19173	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.6927:0.3073:0.0	10.860	0.46028	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1615.33	99	chr11	55993868	.	G	A	1615.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.213;DP=1660;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.875;SOR=0.739	GT:AD:DP:GQ:PL	0/1:30,57:87:99:1629,0,755	18	0	1	0
chr11	55994258	55994258	T	A	exonic	OR5F1	.	nonsynonymous SNV	OR5F1:NM_003697:exon1:c.A368T:p.Y123F	.	433	1076	12	1	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00292536995958	0.0045	0.00119808	0.0040	0.0009	0.0022	0	0.0073	0.0055	0.0022	0.0022	0.0041203	637	154602	rs140060499	0.0057	0.0057	0.0058	0.0055	0.0065	0.0056	0.0055	0.0064	0.0063	0.0011	0.0017	0.0023	2.519e-05	0.0080	0.0045	0.0065	0.0041	0.0023	0.0044	0.0044	0.0046	0.0043	0.0062	0.0042	0.0041	0.0057	0.0055	0.0014	0.0439	0.0018	0.0012	0	0.0093	0.0102	0.0062	0.0019	0.0039	0.111	0.29029	T	0.061	0.45530	T	0.998	0.73220	D	0.924	0.65913	D	.	.	.	.	0.853422	0.28463	N	1.175	0.29870	L	4.48	0.02067	T	-3.42	0.67241	D	0.294	0.33250	-1.0986	0.04265	T	0.014	0.05657	T	9	0.007176608	0.00163	T	0.002925	0.06192	T	0.116	0.32463	.	.	0.192905019026	0.18896	0.11663367998974775	0.11591	0.0700158727979	0.07844	0.221169352531	0.01379	T	0.011423	0.10197	T	-0.510189	0.00501	T	-0.49923	0.22427	T	0.0325702758902604	0.02400	T	0.656534	0.26618	T	0.27875063	0.50928	0.20272325	0.44315	0.27875063	0.50927	0.20272325	0.44314	-4.428	0.29934	T	.	.	0.110	0.21353	B	.	.	3.134110	0.42357	21.5	0.96728119214849717	0.30876	0.88953	0.49137	D	AEFI	0.128025	0.24563	N	0.0910648324149869	0.46047	2.851184	-0.0804470327818137	0.36199	2.103622	9.58318401898543E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.03	3.03	0.34070	3.232000	0.51003	-1.675000	0.04938	0.333000	0.19617	0.990000	0.36992	0.000000	0.08366	0.008000	0.08271	0.0:0.0:0.0:1.0	10.279	0.42708	161	0.93754	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	0.006042	0.010101	0.010870	0.002924	0.000000	0.008621	0.003049	0.003788	0.02632	1812.33	99	chr11	55994258	.	T	A	1812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.977;DP=2057;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.05;MQRankSum=-2.141;QD=14.73;ReadPosRankSum=-0.955;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,65:123:99:0|1:55994258_T_A:1826,0,1627:55994258	18	0	1	0
chr11	56159791	56159791	T	C	exonic	OR8K5	.	nonsynonymous SNV	OR8K5:NM_001004058:exon1:c.A527G:p.H176R	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00300933583486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.095e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	5.75e-06	4.55e-06	0	0	0	0	0	0.0002	1.079e-05	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	0.148	0.27908	B	0.094	0.30180	B	0.000017	0.62929	D	0.000000	0.952439	0.26438	N	3.66	0.94269	H	8.62	0.00160	T	-7.17	0.94145	D	0.458	0.49511	-1.0821	0.06946	T	0.001	0.00467	T	10	0.32851315	0.50119	T	0.003009	0.06457	T	0.169	0.43123	0.503	0.59615	0.469496741337	0.46578	0.10446387255866069	0.10376	0.00536930709463	0.00472	0.224165096879	0.01565	T	0.015022	0.12680	T	-0.123242	0.32593	T	-0.414805	0.31673	T	0.948579370975494	0.62925	D	0.79802	0.44234	T	0.85858506	0.87978	0.68452704	0.81452	0.85858506	0.87979	0.68452704	0.81453	-8.754	0.66099	D	.	.	0.143	0.31431	B	.	.	2.232764	0.28505	17.82	0.98099474266440922	0.38254	0.78463	0.38714	D	AEFI	0.391936	0.47018	N	0.223356366482915	0.52332	3.408	0.238740222588287	0.52011	3.379024	0.00171317102865735	0.08808	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	3.468000	0.52850	.	.	0.571000	0.28931	0.267000	0.25017	0.985000	0.30750	0.023000	0.12082	0.0:0.0:0.0:1.0	12.885	0.57429	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1738.33	35	chr11	56159791	.	T	C	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.172;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.578;SOR=0.742	GT:AD:DP:GQ:PL	0/1:53,69:122:99:1752,0,1570	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,55:259:99:0|1:56375950_A_*:1715,0,8604:56375950	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,53:261:99:0|1:56375950_A_*:1628,0,8652:56375950	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,53:265:99:0|1:56375950_A_*:1628,0,8652:56375950	2	0	16	1
chr11	57417846	57417846	G	C	exonic	SLC43A3	.	nonsynonymous SNV	SLC43A3:NM_001278201:exon8:c.C573G:p.I191M,SLC43A3:NM_001278206:exon8:c.C612G:p.I204M,SLC43A3:NM_014096:exon8:c.C573G:p.I191M,SLC43A3:NM_017611:exon8:c.C573G:p.I191M,SLC43A3:NM_199329:exon8:c.C573G:p.I191M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.017936451789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.31987	T	0.061	0.45530	T	0.743	0.43037	P	0.615	0.51231	P	0.007541	0.31343	N	0.342036	0.990502	0.41173	D	1.43	0.35840	L	0.28	0.60236	T	-0.63	0.18459	N	0.342	0.39052	-0.7638	0.57198	T	0.208	0.56690	T	10	0.29765952	0.47326	T	0.017936	0.39831	T	0.107	0.30369	0.557	0.67547	0.542808479177	0.53935	0.3427932582413513	0.34192	0.182812000047	0.20551	0.410204380751	0.26484	T	0.158831	0.50201	T	-0.0615599	0.42662	T	-0.326203	0.41889	T	0.777227938175201	0.44878	D	0.89751	0.66396	D	0.0907086	0.21233	0.06480782	0.13043	0.0907086	0.21232	0.06480782	0.13043	-7.819	0.59830	D	.	.	0.101	0.21987	B	.;.;.;.;.;.	.;.;.;.;.;.	3.656097	0.51914	23.2	0.99687575091016067	0.79708	0.87639	0.47245	D	AEFDBCI	0.703908	0.65980	D	0.223982561399653	0.52365	3.410965	0.267334496788308	0.53642	3.532128	0.999999995541014	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	4.57	0.55860	1.842000	0.38891	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0795:0.0:0.9205:0.0	12.314	0.54264	232	0.90957	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	50.33	34	chr11	57417846	.	G	C	50.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.033;DP=728;ExcessHet=0;FS=43.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.237;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,16:113:64:0|1:57417846_G_C:64,0,3471:57417846	18	0	1	0
chr11	57417853	57417853	G	C	exonic	SLC43A3	.	nonsynonymous SNV	SLC43A3:NM_001278201:exon8:c.C566G:p.S189C,SLC43A3:NM_001278206:exon8:c.C605G:p.S202C,SLC43A3:NM_014096:exon8:c.C566G:p.S189C,SLC43A3:NM_017611:exon8:c.C566G:p.S189C,SLC43A3:NM_199329:exon8:c.C566G:p.S189C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0183594795113	.	.	8.277e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs761003780	4.173e-05	4.173e-05	5.445e-05	2.888e-05	5.396e-05	3.31e-05	3.001e-05	4.265e-05	3.837e-05	2.987e-05	0	0	0	0	0	5.396e-05	0	0	2.628e-05	2.627e-05	2.569e-05	2.691e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.939e-05	0	0	0.143	0.28026	T	0.135	0.34124	T	0.03	0.20002	B	0.082	0.29098	B	0.000047	0.53742	D	0.129509	0.736308	0.33773	D	1.955	0.52871	M	0.31	0.59314	T	-1.35	0.37375	N	0.459	0.51226	-0.7439	0.58252	T	0.149	0.47575	T	10	0.28009826	0.45584	T	0.018359	0.40397	T	0.145	0.38592	0.62	0.75461	0.503498835695	0.49987	0.5470677570424863	0.54632	0.136672548777	0.15416	0.40134704113	0.25256	T	0.183703	0.53612	T	-0.0531759	0.43963	T	-0.250514	0.49767	T	0.348510593175888	0.26960	T	0.827917	0.49719	T	0.082389064	0.18979	0.06929415	0.14581	0.082389064	0.18978	0.06929415	0.14581	-8.574	0.67297	D	.	.	0.102	0.24867	B	.;.;.;.;.;.	.;.;.;.;.;.	3.469446	0.48398	22.6	0.98106778670925487	0.38318	0.90741	0.52173	D	AEFDBCI	0.824401	0.74431	D	0.0570425281259547	0.44466	2.720214	0.219054970844248	0.50903	3.277797	0.999999459295993	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	3.798000	0.55226	7.938000	0.75364	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.132:0.0:0.868:0.0	8.884	0.34553	232	0.90957	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	53.33	34	chr11	57417853	.	G	C	53.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.846;DP=879;ExcessHet=0;FS=43.716;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=-0.337;SOR=5.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,16:112:67:0|1:57417846_G_C:67,0,3456:57417846	18	0	1	0
chr11	57417856	57417856	G	C	exonic	SLC43A3	.	nonsynonymous SNV	SLC43A3:NM_001278201:exon8:c.C563G:p.A188G,SLC43A3:NM_001278206:exon8:c.C602G:p.A201G,SLC43A3:NM_014096:exon8:c.C563G:p.A188G,SLC43A3:NM_017611:exon8:c.C563G:p.A188G,SLC43A3:NM_199329:exon8:c.C563G:p.A188G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0162654474331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.241e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13789	T	0.369	0.16522	T	0.001	0.07471	B	0.008	0.13708	B	0.046698	0.23415	N	0.475348	1	0.08975	N	1.995	0.54099	M	0.29	0.59314	T	-1.5	0.36586	N	0.292	0.37717	-1.0331	0.19459	T	0.112	0.40029	T	10	0.12813783	0.24374	T	0.016265	0.37444	T	0.050	0.13987	0.498	0.58835	0.32082282376	0.31691	0.34509865334981926	0.34423	0.110328841212	0.12446	0.301296502352	0.10594	T	0.210943	0.57157	T	-0.0747502	0.40564	T	-0.34515	0.39759	T	0.213555663824081	0.21137	T	0.832417	0.50060	T	0.049327	0.08740	0.061226767	0.11790	0.049327	0.08740	0.061226767	0.11789	-7.581	0.58430	D	.	.	0.091	0.14660	B	.;.;.;.;.;.	.;.;.;.;.;.	2.877446	0.38066	20.6	0.96293867045770554	0.29325	0.72240	0.35366	D	AEFDBCI	0.523696	0.54719	D	-0.534209192028582	0.20981	1.110122	-0.430456348655306	0.24107	1.318354	0.999740854036604	0.42466	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	0.821	0.17938	2.038000	0.40805	2.834000	0.35039	0.676000	0.76740	0.906000	0.31575	0.999000	0.35428	0.990000	0.65344	0.081:0.0:0.5268:0.3922	7.930	0.29059	232	0.90957	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	75.33	34	chr11	57417856	.	G	C	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.702;DP=865;ExcessHet=0;FS=51.233;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=-0.891;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,17:108:89:0|1:57417846_G_C:89,0,3285:57417846	18	0	1	0
chr11	57698565	57698565	C	T	exonic	ZDHHC5	.	nonsynonymous SNV	ZDHHC5:NM_015457:exon11:c.C1129T:p.R377C	.	.	.	.	.	.	.	.	.	.	.	3492103	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.240	0.0480074991697	.	0.000199681	5.304e-05	0	0	0.0003	0	4.644e-05	0	0	5.17e-05	8	154602	rs189780817	1.999e-05	1.984e-05	1.919e-05	2.081e-05	0.0002	1.403e-05	1.213e-05	8.2e-05	5.785e-05	0	0	0	0.0002	0	0	1.898e-05	0	1.19e-05	1.97e-05	1.969e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.394e-05	0	0	0	0	0.0006	0	0	0	0	0	0.153	0.33585	T	0.148	0.44905	T	0.993	0.65571	D	0.835	0.59863	P	0.200522	0.16612	N	0.641922	1	0.81001	D	0.97	0.24054	L	0.25	0.83413	T	-2.36	0.53258	N	0.781	0.77789	0.142	0.84918	D	0.603	0.85898	D	10	0.21187308	0.37629	T	0.048007	0.63179	D	0.240	0.54500	.	.	0.794912117604	0.79300	0.5159133805237306	0.51514	0.251437332666	0.27727	0.75462436676	0.75129	T	0.200618	0.55826	T	0.0548485	0.58964	T	0.197387	0.82985	D	0.171727226392829	0.18697	T	0.834417	0.53747	T	0.10630406	0.25136	0.09650987	0.22934	0.10630406	0.25136	0.09650987	0.22934	-8.229	0.62620	D	.	.	0.236	0.50166	B	.;.;.	.;.;.	4.660982	0.74398	26.2	0.99890037348159755	0.96436	0.97046	0.72376	D	AEFDBCI	0.832106	0.75053	D	0.637911012754812	0.75587	6.332664	0.666138984789145	0.79817	7.163291	0.999999666890762	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	4.166000	0.57992	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.386	0.87306	328	0.86572	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	853.33	35	chr11	57698565	.	C	T	853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.642;DP=695;ExcessHet=0;FS=2.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=1.71;SOR=0.963	GT:AD:DP:GQ:PL	0/1:37,34:71:99:867,0,924	18	0	1	0
chr11	58507704	58507704	C	T	exonic	OR5B21	.	nonsynonymous SNV	OR5B21:NM_001005218:exon1:c.G402A:p.M134I	.	.	.	.	.	.	.	.	.	.	.	3462766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0090486977276	.	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs779979059	4.788e-06	4.788e-06	6.806e-06	2.75e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.022	0.57587	D	0.489	0.36925	P	0.176	0.35644	B	0.000424	0.44522	U	0.000000	0.894921	0.36036	D	2.355	0.67662	M	6.65	0.00510	T	-3.45	0.67589	D	0.841	0.83678	-0.6366	0.63291	T	0.003	0.00994	T	10	0.6892299	0.71752	D	0.009049	0.23821	T	0.130	0.35528	0.485	0.56780	0.395745362164	0.39188	0.278243049008385	0.27737	0.0321975740341	0.03353	0.371055930853	0.20983	T	0.029046	0.20900	T	-0.128277	0.31775	T	-0.358391	0.38238	T	0.432380467653275	0.30149	T	0.872113	0.57861	D	0.59902495	0.72639	0.7200628	0.83472	0.59902495	0.72640	0.7200628	0.83473	-6.583	0.50923	T	.	.	0.485	0.63881	A	.	.	3.304609	0.45380	22.1	0.99276167207635002	0.57730	0.97394	0.74471	D	AEFGBI	0.672719	0.63902	D	0.194736205237295	0.50947	3.279951	0.232162456563635	0.51640	3.344852	0.999999971280157	0.74766	0.446893	0.09132	0	0.232529	0.04832	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.2	5.2	0.71720	4.968000	0.63441	3.729000	0.39612	0.596000	0.33519	1.000000	0.71638	0.993000	0.31925	0.368000	0.26066	0.0:1.0:0.0:0.0	17.457	0.87503	594	0.68584	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1743.33	34	chr11	58507704	.	C	T	1743.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=803;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.083;SOR=0.799	GT:AD:DP:GQ:PL	0/1:88,67:155:99:1757,0,2427	18	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,21:95:99:0|1:61740527_G_C:234,0,2118:61740527	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,21:94:99:0|1:61740527_G_C:236,0,2111:61740527	2	0	17	0
chr11	62620554	62620554	-	GGGCAG	exonic	B3GAT3	.	nonframeshift insertion	B3GAT3:NM_001288722:exon2:c.199_200insCTGCCC:p.A66_Q67insPA,B3GAT3:NM_001288723:exon2:c.199_200insCTGCCC:p.A66_Q67insPA,B3GAT3:NM_012200:exon2:c.199_200insCTGCCC:p.A66_Q67insPA,B3GAT3:NM_001288721:exon3:c.178_179insCTGCCC:p.A59_Q60insPA	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.097e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs752512962	2.054e-06	2.052e-06	1.362e-06	2.752e-06	8.966e-05	5.5e-07	1.5e-07	2.376e-05	1.258e-05	8.966e-05	0	0	0	0	0	0	0	0	1.973e-05	1.97e-05	1.286e-05	2.692e-05	7.246e-05	5.24e-06	2.46e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	929.29	34	chr11	62620554	.	T	TGGGCAG	929.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.173;DP=701;ExcessHet=0;FS=3.579;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=-1.913;QD=15.49;ReadPosRankSum=0.248;SOR=1.103	GT:AD:DP:GQ:PL	0/1:35,25:60:99:943,0,1396	18	0	1	0
chr11	64833281	64833281	C	T	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon24:c.G2681A:p.R894H	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.148760061746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.734e-06	7.524e-06	5.658e-06	5.813e-06	2.801e-05	2.47e-06	1.78e-06	2.7e-06	1.74e-06	0	0	0	2.801e-05	0	0	6.494e-06	0	0	6.582e-06	6.57e-06	0	1.348e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.396733	0.13180	N	0.665321	0.999028	0.21700	N	-0.885	0.01428	N	-2.95	0.91903	D	2.56	0.00220	N	0.097	0.07811	-0.5671	0.66130	T	0.185	0.53496	T	10	0.03848815	0.02270	T	0.14876	0.83064	D	0.204	0.49076	0.482	0.56302	0.607789150232	0.60464	0.3480593431332238	0.34719	0.299117560637	0.32281	0.391343891621	0.23859	T	0.130568	0.45954	T	-0.166299	0.25795	T	-0.476654	0.24803	T	0.0356788299977779	0.02925	T	0.70293	0.31283	T	0.023573581	0.01109	0.029281693	0.01249	0.023573581	0.01108	0.029281693	0.01249	-3.572	0.17453	T	.	.	0.078	0.06990	B	.	.	2.577565	0.33415	19.33	0.32806695242604095	0.01921	0.12367	0.17225	N	AEFBI	0.046855	0.07827	N	-1.29189199995975	0.03772	0.169103	-1.02452314061928	0.09247	0.4589704	0.9914527936253	0.32494	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.3	-1.7	0.07721	0.480000	0.21954	0.016000	0.13516	-0.197000	0.09056	0.506000	0.27002	0.646000	0.25939	0.983000	0.59808	0.1305:0.4077:0.0:0.4618	5.485	0.16038	309	0.87553	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	957.33	34	chr11	64833281	.	C	T	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.493;DP=738;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.29;SOR=0.763	GT:AD:DP:GQ:PL	0/1:57,40:97:99:971,0,1395	18	0	1	0
chr11	65046463	65046463	C	A	exonic	NAALADL1	.	nonsynonymous SNV	NAALADL1:NM_005468:exon14:c.G1663T:p.D555Y	.	419	1096	5	2	0	9	0.00408905	.	.	.	2336904	not_specified|Retinal_dystrophy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0166539387118	0.0007	0.000798722	0.0012	0	0.0007	0.0001	0.0002	0.0013	0.0022	0.0024	0.0010349	160	154602	rs138345812	0.0008	0.0008	0.0007	0.0009	0.0062	0.0007	0.0007	0.0046	0.0041	0.0002	0.0006	0.0028	2.519e-05	0.0001	0.0062	0.0007	0.0009	0.0021	0.0007	0.0007	0.0007	0.0007	0.0019	0.0006	0.0005	0.0010	0.0007	0.0001	0	0.0004	0.0055	0.0002	0	0.0034	0.0009	0.0019	0.0019	0.001	0.78490	D	0.058	0.46182	T	0.015	0.17086	B	0.035	0.22741	B	0.003678	0.34636	N	0.314743	0.697613	0.81001	D	2.525	0.73725	M	0.72	0.50976	T	-4.15	0.77881	D	0.485	0.51940	-0.8227	0.53765	T	0.185	0.53361	T	10	0.0149817765	0.00315	T	0.016654	0.38007	T	0.192	0.47115	.	.	0.671920203974	0.66915	0.6857444840190312	0.68514	0.215998724912	0.24126	0.32479852438	0.14148	T	0.215093	0.57687	T	-0.330663	0.06061	T	-0.253918	0.49430	T	0.10437948943901	0.12832	T	0.892211	0.63166	D	0.83356684	0.86152	0.67173874	0.80736	0.83356684	0.86154	0.67173874	0.80737	-13.073	0.89662	D	.	.	0.222	0.65105	B	.;.;.;.;.	.;.;.;.;.	3.521247	0.49360	22.8	0.9918111997349921	0.54672	0.72036	0.35275	D	AEFDGBI	0.404767	0.47792	N	0.318151657640724	0.57080	3.874115	0.395607921311149	0.61295	4.327477	0.999998423192467	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	5.53	5.53	0.82530	1.445000	0.34690	1.389000	0.26100	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.173:0.827:0.0:0.0	11.981	0.52411	328	0.86572	Peptidase M28;.;.;Peptidase M28;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.003049	0.007576	0.02632	1021.33	33	chr11	65046463	.	C	A	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=746;ExcessHet=0;FS=5.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.072;SOR=1.157	GT:AD:DP:GQ:PL	0/1:53,38:91:99:1035,0,1285	18	0	1	0
chr11	66042803	66042803	G	A	exonic	GAL3ST3	.	nonsynonymous SNV	GAL3ST3:NM_033036:exon3:c.C1000T:p.R334C	.	.	.	.	.	.	.	.	.	.	.	3977562	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0810981980221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219605821	1.545e-06	3.42e-06	1.514e-06	1.578e-06	.	2.6e-07	1e-07	.	.	0	0	0	0	0	0	0	3.727e-05	0	1.999e-05	1.971e-05	3.905e-05	0	7.289e-05	5.31e-06	2.47e-06	1.933e-05	1.036e-05	7.289e-05	0	0	0	0	0	0	0	0	0	0.206	0.19927	T	0.173	0.30143	T	0.478	0.36706	P	0.26	0.39460	B	0.000193	0.48115	D	0.140827	0.998311	0.44758	D	2.195	0.61839	M	2.46	0.14907	T	-0.56	0.17003	N	0.372	0.46555	-1.1172	0.02517	T	0.045	0.19478	T	10	0.20115563	0.36189	T	0.081098	0.73608	D	0.088	0.25558	0.547	0.66156	0.502815669512	0.49917	0.5439152780621114	0.54317	1.9606362905	0.93449	0.917391180992	0.98118	D	0.081605	0.36636	T	-0.157929	0.27078	T	-0.464631	0.26097	T	0.884780585765839	0.53504	D	0.863414	0.55914	D	0.39612108	0.60463	0.19415185	0.43022	0.39612108	0.60464	0.19415185	0.43021	-8.372	0.63578	D	.	.	0.447	0.62053	A	.;.	.;.	3.603643	0.50915	23.0	0.99785157309491834	0.87131	0.32131	0.24510	N	AEFDBI	0.336701	0.43474	N	-0.241030236352171	0.31463	1.764456	-0.251418327094171	0.29722	1.667548	0.999906072986319	0.45458	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.35	3.42	0.38259	0.760000	0.26140	3.088000	0.36267	0.522000	0.23927	0.053000	0.21524	0.985000	0.30750	0.608000	0.31589	0.0:0.0:0.6336:0.3664	9.953	0.40819	199	0.92292	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	586.33	33	chr11	66042803	.	G	A	586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.08;DP=641;ExcessHet=0;FS=2.926;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=1.02;SOR=1.27	GT:AD:DP:GQ:PL	0/1:21,22:43:99:600,0,526	18	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	1546.45	121	chr11	66863811	.	C	T	1546.45	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-3.71;DP=1734;ExcessHet=4.0268;FS=173.681;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.63;SOR=11.827	GT:AD:DP:GQ:PL	0/1:100,46:150:99:308,0,1870	9	0	8	2
chr11	68021650	68021650	C	A	exonic	ALDH3B1	.	nonsynonymous SNV	ALDH3B1:NM_001030010:exon6:c.C617A:p.T206N,ALDH3B1:NM_001290059:exon6:c.C140A:p.T47N,ALDH3B1:NM_000694:exon7:c.C728A:p.T243N,ALDH3B1:NM_001161473:exon7:c.C728A:p.T243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109035707912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.79402	D	0.993	0.65571	D	0.979	0.74454	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.655	0.68342	.	.	.	.	.	.	.	0.7479043	0.75422	D	0.109036	0.78583	D	.	.	.	.	0.670900020916	0.66812	0.8312104411542628	0.83080	.	.	0.609260678291	0.54211	T	0.387461	0.74837	T	0.176335	0.71706	D	0.0155166	0.71340	D	.	.	.	0.909009	0.68582	D	0.60756004	0.73097	0.80246747	0.88425	0.60756004	0.73098	0.80246747	0.88425	-7.598	0.58297	D	.	.	0.513	0.71378	A	.;.;.	.;.;.	4.803805	0.78081	26.8	0.94438343939432634	0.24859	0.86693	0.46028	D	AEFGBHCI	0.763220	0.70039	D	.	.	.	.	.	.	0.999999999904327	0.74766	0.035006	0.00240	2	0.068659	0.01829	0	0.096126	0.03002	1	0.057841	0.00900	0	.	.	3.75	3.75	0.42236	3.937000	0.56287	7.218000	0.57839	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	14.393	0.66563	783	0.47268	Aldehyde dehydrogenase domain|Aldehyde dehydrogenase, cysteine active site;Aldehyde dehydrogenase domain|Aldehyde dehydrogenase, cysteine active site;Aldehyde dehydrogenase domain|Aldehyde dehydrogenase, cysteine active 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	.	.	.	.	.	.	.	.	0.02632	4045.33	34	chr11	68021650	.	C	A	4045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.064;DP=953;ExcessHet=0;FS=3.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.373;SOR=0.877	GT:AD:DP:GQ:PL	0/1:146,151:297:99:4059,0,4024	18	0	1	0
chr11	73394683	73394683	C	T	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon9:c.C995T:p.A332V,RELT:NM_152222:exon9:c.C995T:p.A332V	.	412	1079	29	2	0	33	0.0150616	.	.	.	3185193	not_provided|RELT-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.175	0.0399008955017	0.0019	0.00179712	0.0023	0.0006	0.0010	0	0.0005	0.0020	0.0034	0.0071	0.0020828	322	154602	rs12362779	0.0017	0.0017	0.0015	0.0020	0.0218	0.0017	0.0016	0.0187	0.0176	0.0004	0.0012	0.0027	2.519e-05	0.0003	0.0218	0.0013	0.0022	0.0070	0.0012	0.0012	0.0013	0.0011	0.0052	0.0011	0.0010	0.0036	0.0031	0.0003	0.0022	0.0007	0.0017	0.0002	0.0002	0.0034	0.0017	0.0019	0.0052	0.052	0.39097	T	0.148	0.32675	T	0.003	0.11197	B	0.003	0.08700	B	0.008621	0.30756	N	0.263815	0.775952	0.34208	D	1.655	0.42436	L	-1.02	0.76300	T	-1.48	0.36189	N	0.176	0.18920	-0.3948	0.72191	T	0.327	0.69538	T	10	0.0037205517	0.00069	T	0.039901	0.59071	D	0.175	0.44197	.	.	0.485705203746	0.48201	0.23113276701147592	0.23028	0.106959515568	0.12079	0.390446007252	0.23733	T	0.01866	0.15005	T	-0.406553	0.02096	T	-0.353036	0.38857	T	0.015432057305191	0.00346	T	0.692231	0.30167	T	0.09462336	0.22252	0.11955887	0.28857	0.11956615	0.28150	0.10118702	0.24215	-4.297	0.28135	T	0.07821221755293352	0.03736	0.075	0.05711	B	.;.	.;.	1.552360	0.19892	14.49	0.99620177263976495	0.75353	0.42689	0.26933	N	AEFDGBCI	0.107461	0.21410	N	-0.362300907702796	0.26824	1.466876	-0.280212426500318	0.28750	1.605442	0.999999961424238	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.87	3.96	0.45097	1.023000	0.29668	1.786000	0.28758	0.599000	0.40250	0.002000	0.15269	0.937000	0.28687	0.057000	0.15750	0.0:0.92:0.0:0.08	12.717	0.56492	393	0.83123	.;.	.	.	.	.	.	Likely benign	0	0	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	0.015625	0.015306	0.014946	0.026316	0.000000	0.025862	0.015244	0.003788	0.02632	1179.33	33	chr11	73394683	.	C	T	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.769;DP=737;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.871;SOR=0.386	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1193,0,1204	18	0	1	0
chr11	78738538	78738538	G	A	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon20:c.C2789T:p.T930I	Tremor, hereditary essential, 5, Autosomal dominant	426	1076	20	0	0	20	0.0092081	.	.	.	701999	not_provided|TENM4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.347	.	0.0082	0.00359425	0.0076	0.0016	0.0043	0	0.0077	0.0113	0.0068	0.0019	0.007846	1213	154602	rs76283314	0.0092	0.0092	0.0094	0.0091	0.0106	0.0091	0.0090	0.0105	0.0104	0.0017	0.0057	0.0101	0	0.0065	0.0069	0.0106	0.0082	0.0021	0.0080	0.0080	0.0087	0.0073	0.0118	0.0076	0.0075	0.0111	0.0109	0.0018	0.0439	0.0111	0.0115	0	0.0056	0.0034	0.0118	0.0123	0.0015	0.001	0.78490	D	0.013	0.63109	D	0.651	0.40707	P	0.198	0.36766	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.345	0.67358	M	2.53	0.14038	T	-4.17	0.75456	D	0.851	0.84713	-1.0634	0.10926	T	0.044	0.18742	T	9	0.009315968	0.00210	T	.	.	.	0.347	0.66863	.	.	0.0934897674506	0.08844	0.8247621404957842	0.82434	0.63000353875	0.57007	0.827048480511	0.86110	D	0.627535	0.88412	D	-0.419143	0.01732	T	-0.362522	0.37760	T	0.0364159389715891	0.03053	T	0.958404	0.84340	D	0.61720604	0.73613	0.54209536	0.73534	0.61720604	0.73615	0.54209536	0.73535	-10.66	0.77761	D	0.5472856454656908	0.61625	0.854	0.79954	P	.	.	4.553845	0.71695	25.7	0.99872361368779661	0.94989	0.99024	0.90115	D	AEFDBI	0.896112	0.83684	D	0.583895211312673	0.72169	5.763661	0.639764070853829	0.77849	6.759535	0.999999999999999	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.08	5.08	0.68373	10.003000	0.99689	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.033	0.92948	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.010101	0.004076	0.002924	0.000000	0.025862	0.009146	0.003788	0.02632	1842.33	33	chr11	78738538	.	G	A	1842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.238;DP=759;ExcessHet=0;FS=4.316;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.064;SOR=0.419	GT:AD:DP:GQ:PL	0/1:54,72:126:99:1856,0,1281	18	0	1	0
chr11	92981635	92981635	C	T	exonic	MTNR1B	.	nonsynonymous SNV	MTNR1B:NM_005959:exon2:c.C412T:p.R138C	.	410	1106	6	0	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.709	0.356317699531	0.0009	0.000798722	0.0011	0.0003	0.0011	0	0	0.0013	0.0011	0.0017	0.0010931	169	154602	rs61746674	0.0013	0.0013	0.0013	0.0014	0.0023	0.0013	0.0013	0.0017	0.0016	0.0001	0.0005	0.0008	2.519e-05	5.616e-05	0.0023	0.0015	0.0011	0.0019	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0012	0.0011	0.0002	0	0.0001	0.0009	0	9.413e-05	0.0034	0.0014	0.0014	0.0012	0.008	0.58626	D	0.01	0.65728	D	0.997	0.70673	D	0.924	0.65913	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.51	0.99008	H	-4.28	0.97126	D	-6.48	0.91522	D	0.596	0.61511	0.981	0.96870	D	0.945	0.98184	D	10	0.16388956	0.30675	T	0.356318	0.92399	D	0.709	0.89605	.	.	0.946344207893	0.94577	0.7976175587079167	0.79714	0.558204459078	0.52405	0.421830534935	0.28089	T	0.647007	0.89242	D	-0.117516	0.33531	T	0.0519437	0.73712	D	0.138522330492092	0.16147	T	0.966703	0.87848	D	0.68874824	0.77444	0.5614439	0.74624	0.68874824	0.77445	0.5614439	0.74625	-12.606	0.87677	D	.	.	0.763	0.75635	P	.	.	2.437495	0.31368	18.72	0.99705016991771578	0.80936	0.54765	0.29696	D	AEFBI	0.225995	0.35000	N	0.233489888325489	0.52827	3.454623	0.0689594197965708	0.42997	2.610748	8.89694901614827E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.97	2.09	0.26154	0.445000	0.21392	-1.392000	0.05547	-0.267000	0.06790	0.995000	0.38783	0.001000	0.17328	0.073000	0.16832	0.2071:0.6298:0.0:0.1631	6.225	0.19915	824	0.40336	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.050000	0.000000	0.006098	0.003788	0.05263	4216.83	36	chr11	92981635	.	C	T	4216.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.986;DP=1019;ExcessHet=0.119;FS=2.316;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.129;SOR=0.579	GT:AD:DP:GQ:PL	0/1:88,76:164:99:1988,0,2291	17	0	2	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.07895	8473.79	304	chr11	96384356	.	C	T	8473.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.71;DP=1537;ExcessHet=0.3672;FS=3.29;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.628;SOR=0.948	GT:AD:DP:GQ:PL	0/1:147,91:238:99:2474,0,3298	16	0	3	0
chr11	102331119	102331119	G	A	exonic	BIRC3	.	nonsynonymous SNV	BIRC3:NM_001165:exon6:c.G1202A:p.R401K,BIRC3:NM_182962:exon7:c.G1202A:p.R401K	.	438	1053	29	2	0	33	0.0154278	.	.	.	701528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00581824617469	0.0060	0.00379393	0.0059	0.0016	0.0025	0	0.0003	0.0090	0.0011	0.0038	0.0060154	930	154602	rs17881197	0.0082	0.0083	0.0084	0.0081	0.0149	0.0081	0.0081	0.0124	0.0114	0.0018	0.0031	0.0172	2.525e-05	0.0011	0.0149	0.0094	0.0076	0.0042	0.0054	0.0054	0.0059	0.0049	0.0082	0.0051	0.0050	0.0076	0.0074	0.0017	0	0.0082	0.0138	0	0.0005	0.0034	0.0082	0.0033	0.0025	0.152	0.24468	T	0.972	0.02471	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.145662	0.961759	0.26094	N	1.04	0.26193	L	2.07	0.20387	T	-0.25	0.11008	N	0.094	0.12055	-1.0247	0.22181	T	0.020	0.08500	T	10	0.006362766	0.00144	T	0.005818	0.15131	T	0.071	0.20720	.	.	0.435704348906	0.43193	0.40042119535168097	0.39957	0.29034342778	0.31437	0.306683242321	0.11406	T	0.07694	0.35537	T	-0.584895	0.00180	T	-0.601906	0.12652	T	0.01499739911791	0.00322	T	0.775222	0.40690	T	0.20565298	0.42714	0.16079606	0.37434	0.20565298	0.42713	0.16079606	0.37433	-3.354	0.14444	T	.	.	0.086	0.10449	B	.;.;.	.;.;.	3.123896	0.42190	21.5	0.96012916723923669	0.28451	0.90447	0.51630	D	AEFBCI	0.766927	0.70296	D	-0.401411524183567	0.25421	1.379769	-0.209592202056092	0.31189	1.762884	0.999934364952795	0.46732	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.19	4.28	0.50183	6.630000	0.74133	7.575000	0.60810	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0741:0.0:0.9259:0.0	13.686	0.61996	789	0.46346	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.013092	0.010101	0.012228	0.023392	0.000000	0.017241	0.003049	0.003788	0.02632	1585.33	33	chr11	102331119	.	G	A	1585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=748;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-1.188;SOR=0.641	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1599,0,1490	18	0	1	0
chr11	118903294	118903299	CGCCCC	-	exonic	BCL9L	.	nonframeshift deletion	BCL9L:NM_182557:exon4:c.686_691del:p.G229_G230del,BCL9L:NM_001378214:exon5:c.575_580del:p.G192_G193del,BCL9L:NM_001378213:exon6:c.686_691del:p.G229_G230del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	.	0.0001	0	0	0.0003	0	0.0002	0	0	0.0001153	3	26028	rs559945924	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0003	0.0003	0.0001	0.0001	0	0.0002	2.014e-05	0	0.0003	0.0002	0.0001	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	6.542e-05	0	0.0002	0	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1941.29	49	chr11	118903293	.	ACGCCCC	A	1941.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.021;DP=782;ExcessHet=0;FS=0.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.73;ReadPosRankSum=1.15;SOR=0.745	GT:AD:DP:GQ:PL	0/1:21,49:70:99:1955,0,713	18	0	1	0
chr11	119114228	119114228	T	G	exonic	C2CD2L	.	nonsynonymous SNV	C2CD2L:NM_001382611:exon12:c.T1661G:p.L554R,C2CD2L:NM_001290474:exon13:c.T1772G:p.L591R,C2CD2L:NM_001382612:exon13:c.T1775G:p.L592R,C2CD2L:NM_014807:exon13:c.T1775G:p.L592R,C2CD2L:NM_001382613:exon14:c.T1772G:p.L591R	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0293758274713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433868827	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0003	4.96e-06	3.82e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	4.496e-06	4.967e-05	3.478e-05	1.316e-05	1.314e-05	1.285e-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	0.468	0.08534	T	0.556	0.09236	T	0.893	0.49136	P	0.578	0.50118	P	0.012542	0.29135	N	0.333690	0.740308	0.33815	D	0.895	0.22405	L	0.37	0.57729	T	0.02	0.06739	N	0.388	0.42931	-0.8464	0.52215	T	0.131	0.44148	T	10	0.18849409	0.34407	T	0.029376	0.51898	D	0.157	0.40909	0.262	0.20631	0.398365109743	0.39450	0.4315959254593735	0.43076	1.17859640205	0.79955	0.650212585926	0.60015	T	0.008016	0.07382	T	-0.0470379	0.44897	T	-0.208489	0.53840	T	0.335770422498854	0.26455	T	0.793521	0.43550	T	0.16053163	0.36000	0.2094491	0.45290	0.16053163	0.35999	0.2094491	0.45290	-4.057	0.24654	T	.	.	0.089	0.17189	B	.;.	.;.	3.751978	0.53785	23.4	0.99398819855149556	0.62702	0.96633	0.70125	D	AEFBI	0.401255	0.47582	N	0.267308133279797	0.54501	3.615395	0.334580037056861	0.57584	3.924624	0.996529630965321	0.34806	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	0.864000	0.27581	6.105000	0.53597	0.665000	0.62972	0.254000	0.24889	1.000000	0.68203	0.923000	0.45890	0.0:0.171:0.0:0.829	6.090	0.19214	230	0.91032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2351.33	40	chr11	119114228	.	T	G	2351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.136;DP=932;ExcessHet=0;FS=1.837;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.635;SOR=0.648	GT:AD:DP:GQ:PL	0/1:82,96:178:99:2365,0,2004	18	0	1	0
chr11	120127515	120127515	G	A	exonic	TRIM29	.	nonsynonymous SNV	TRIM29:NM_001330382:exon3:c.C172T:p.R58W,TRIM29:NM_012101:exon3:c.C955T:p.R319W	.	0	225	1	0	0	1	0.00221729	.	.	.	2788811	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.202	0.0155325602049	.	0.000199681	2.473e-05	9.621e-05	0	0	0	1.5e-05	0	6.063e-05	3.23e-05	5	154602	rs554063264	3.147e-05	3.147e-05	2.45e-05	3.85e-05	0.0002	2.412e-05	2.157e-05	7.712e-05	5.305e-05	0.0002	2.236e-05	0	0	0	0.0002	2.428e-05	0.0001	4.637e-05	2.627e-05	2.625e-05	3.854e-05	1.344e-05	0.0002	8.14e-06	5.14e-06	1.914e-05	1.03e-05	7.218e-05	0	0	0	0	0	0	0	0	0.0002	0.01	0.78490	D	0.003	0.83351	D	0.997	0.70673	D	0.635	0.51908	P	0.009271	0.30438	N	0.219940	0.971444	0.40986	D	0.805	0.20218	L	0.96	0.42888	T	-3.98	0.75297	D	0.619	0.68082	-1.0802	0.07310	T	0.090	0.34655	T	9	0.5618267	0.64831	D	0.015533	0.36313	T	0.202	0.48754	.	.	0.344483371355	0.34058	0.7423515054894235	0.74181	0.60843251522	0.55612	0.412424504757	0.26792	T	0.238208	0.65464	T	-0.199455	0.20882	T	-0.342752	0.40032	T	0.545762181282043	0.34319	D	0.935106	0.76420	D	0.15748248	0.35482	0.2010995	0.44073	0.15748248	0.35481	0.2010995	0.44072	-7.021	0.54187	T	.	.	0.213	0.47730	B	.;.	.;.	4.699726	0.75395	26.3	0.99821491403698714	0.90414	0.87712	0.47344	D	AEFBHCI	0.665208	0.63410	D	-0.373480521805087	0.26418	1.441608	-0.403797144461456	0.24886	1.365284	0.999756420513743	0.42595	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.564101	0.26826	0	.	.	5.14	-2.16	0.06684	2.635000	0.46203	1.899000	0.29569	-0.154000	0.11915	1.000000	0.71638	0.017000	0.20586	0.991000	0.66497	0.0:0.0:0.2334:0.7666	18.129	0.89526	871	0.31377	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2073.33	33	chr11	120127515	.	G	A	2073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.214;DP=822;ExcessHet=0;FS=1.156;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.047;SOR=0.582	GT:AD:DP:GQ:PL	0/1:98,89:187:99:2087,0,2424	18	0	1	0
chr11	121574249	121574249	A	G	exonic	SORL1	.	nonsynonymous SNV	SORL1:NM_003105:exon24:c.A3346G:p.I1116V	.	421	1085	16	0	0	16	0.0073193	.	.	.	1156624	SORL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	0.0822397341311	0.0061	0.00239617	0.0051	0.0012	0.0031	0	0.0027	0.0068	0.0044	0.0058	0.0053751	831	154602	rs62617129	0.0081	0.0081	0.0081	0.0081	0.0094	0.0080	0.0079	0.0092	0.0092	0.0009	0.0026	0.0046	5.04e-05	0.0034	0.0035	0.0094	0.0074	0.0058	0.0057	0.0057	0.0060	0.0053	0.0095	0.0054	0.0052	0.0089	0.0087	0.0019	0.0274	0.0028	0.0029	0	0.0017	0	0.0095	0.0043	0.0077	1.0	0.00964	T	0.661	0.06490	T	0.0	0.02946	B	0.002	0.06944	B	0.963579	0.08207	N	0.984335	1	0.08975	N	-0.85	0.01485	N	-2.74	0.95387	D	0.52	0.03140	N	0.066	0.06322	-0.6151	0.64192	T	0.468	0.79492	T	10	0.007873625	0.00179	T	0.08224	0.73858	D	0.335	0.65718	.	.	0.345175991111	0.34120	0.12264107343781454	0.12190	0.209146922037	0.23382	0.265253186226	0.05533	T	0.102557	0.41040	T	-0.451359	0.01109	T	-0.408148	0.32440	T	0.00104654691590231	0.00010	T	0.613939	0.25008	T	0.017262924	0.00259	0.03384084	0.02348	0.017262924	0.00259	0.03384084	0.02348	-2.201	0.04045	T	.	.	0.055	0.00405	B	.;.	.;.	-0.745753	0.01219	0.061	0.42126843348868692	0.03084	0.08734	0.14620	N	AEFGBCI	0.075342	0.15127	N	-1.36394519108401	0.02983	0.1325446	-1.30817208194828	0.04324	0.2036898	0.999997346669586	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.71	-5.57	0.02321	-0.519000	0.06345	-2.096000	0.04219	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.3922:0.0:0.6078:0.0	17.073	0.86456	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	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	952.33	59	chr11	121574249	.	A	G	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.369;DP=742;ExcessHet=0;FS=0.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-2.759;SOR=0.58	GT:AD:DP:GQ:PL	0/1:59,43:102:99:966,0,1518	18	0	1	0
chr11	124880557	124880557	T	0	exonic	ROBO3	.	.	.	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	617.37	33	chr11	124880557	.	T	*	617.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.477;DP=833;ExcessHet=0.5777;FS=0.528;InbreedingCoeff=0.1044;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-1.898;SOR=0.749	GT:AD:DP:GQ:PL	1/1:0,45:45:99:2025,136,0	11	2	6	0
chr11	125981135	125981135	T	C	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon17:c.A3190G:p.S1064G,CDON:NM_001378964:exon17:c.A3190G:p.S1064G,CDON:NM_016952:exon17:c.A3190G:p.S1064G	Holoprosencephaly 11, Autosomal dominant, Isolated cases	0	1510	12	0	0	12	0.00395778	.	.	.	313179	not_provided|Inborn_genetic_diseases|Holoprosencephaly_11	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0226406552519	0.0002	0.000599042	0.0003	0	0	0.0001	0	0.0001	0.0022	0.0017	0.0002975	46	154602	rs143111106	0.0002	0.0002	0.0002	0.0003	0.0071	0.0002	0.0002	0.0054	0.0048	0	6.708e-05	0.0002	0	0	0.0071	9.083e-05	0.0003	0.0017	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0008	0.0006	0	0.0241	0.0002	0	0	0	0.0068	7.35e-05	0.0005	0.0017	0.229	0.23271	T	0.398	0.16964	T	0.001	0.23277	B	0.001	0.23607	B	0.092796	0.20256	N	0.453195	1	0.08975	N	1.445	0.36358	L	-0.43	0.70014	T	-0.65	0.23372	N	0.115	0.20129	-1.0009	0.29660	T	0.152	0.48084	T	10	0.007580012	0.00172	T	0.022641	0.45547	T	0.071	0.20720	.	.	0.775327061018	0.77326	0.36927381451843255	0.36841	0.0880949821272	0.09952	0.313166469336	0.12385	T	0.221453	0.58503	T	-0.481007	0.00729	T	-0.488337	0.23565	T	0.0243149888923178	0.01184	T	0.578742	0.20864	T	0.055981793	0.10951	0.048278503	0.07137	0.055981793	0.10951	0.048278503	0.07137	-4.02	0.24102	T	0.07676353130901623	0.03536	0.149	0.58878	B	.;.;.	.;.;.	1.824522	0.23182	15.92	0.98074528734347355	0.38054	0.24978	0.22560	N	AEFBI	0.107942	0.21490	N	-0.62097527005516	0.18316	0.9498776	-0.552169054971892	0.20748	1.119287	0.980139605607017	0.30102	0.706298	0.61202	0	0.576064	0.32778	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.49	5.49	0.81022	2.034000	0.40767	5.059000	0.47069	0.654000	0.53741	0.541000	0.27275	0.984000	0.30665	0.035000	0.13729	0.0:0.2058:0.0:0.7942	5.897	0.18190	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.000000	0.011696	0.000000	0.000000	0.000000	0.011364	0.02632	578.33	58	chr11	125981135	.	T	C	578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.991;DP=754;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.248;SOR=0.527	GT:AD:DP:GQ:PL	0/1:46,24:70:99:592,0,1221	18	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,18:87:99:.:.:114,0,973:.	5	0	14	0
chr12	4627344	4627344	A	G	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.T1558C:p.S520P,AKAP3:NM_006422:exon5:c.T1558C:p.S520P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00718109979497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.012	0.63918	D	0.96	0.55278	D	0.761	0.56482	P	0.002083	0.37271	N	0.123694	0.554235	0.31309	N	2.71	0.79292	M	2.97	0.09450	T	-1.63	0.39119	N	0.621	0.63628	-1.0403	0.17223	T	0.047	0.19958	T	10	0.5375057	0.63531	D	0.007181	0.19034	T	0.135	0.36572	0.507	0.60232	0.505273739051	0.50166	0.6255078723082482	0.62483	0.627797579634	0.56854	0.510618448257	0.40310	T	0.020554	0.16160	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.869876325130463	0.51980	D	0.664534	0.27348	T	0.3316064	0.55602	0.38026905	0.63063	0.3316064	0.55602	0.38026905	0.63063	-2.994	0.10116	T	.	.	0.141	0.31048	B	.;.	.;.	3.095856	0.41708	21.4	0.99783022345333794	0.86955	0.14439	0.18403	N	AEFBI	0.169682	0.29653	N	0.0762586144468796	0.45356	2.79358	-0.0464928908324806	0.37642	2.206769	0.00230981710410912	0.09310	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.65	3.08	0.34576	1.678000	0.37202	4.383000	0.43188	0.756000	0.94297	0.905000	0.31549	0.999000	0.35428	0.921000	0.45669	0.6011:0.1508:0.0:0.2481	5.617	0.16716	680	0.59965	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2281.33	169	chr12	4627344	.	A	G	2281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.697;DP=2582;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-2.276;SOR=0.62	GT:AD:DP:GQ:PL	0/1:62,82:144:99:2295,0,1767	18	0	1	0
chr12	7091773	7091773	C	T	exonic	C1R	.	stopgain	C1R:NM_001354346:exon1:c.G44A:p.W15X	Ehlers-Danlos syndrome, periodontal type, 1, Autosomal dominant	0	1510	11	1	0	13	0.00428619	.	.	.	3203274	C1R-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0120	0	0	0.0026	0	0	0.0055	0.0269	0.0017529	271	154602	rs367785162	0.0032	0.0029	0.0015	0.0046	0.0277	0.0030	0.0030	0.0266	0.0261	0.0003	8.641e-05	0	3.115e-05	0	0.0005	9.464e-06	0.0016	0.0277	0.0011	0.0011	0.0005	0.0016	0.0335	0.0009	0.0009	0.0293	0.0277	0	0	6.538e-05	0	0	0	0	0	0.0005	0.0335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.687	0.69300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.788799	0.00009	T	-0.884882	0.00615	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.729985	0.01253	0.065	0.61694685726672127	0.06773	0.00797	0.03252	N	AEFDBCIJ	0.174399	0.30153	N	-1.63503674367357	0.01099	0.04773559	-1.8518245417621	0.00607	0.02697177	0.999999990106296	0.74766	0.403107	0.06075	0	0.541556	0.11502	0	0.467745	0.07146	0	0.562822	0.20929	0	.	.	3.92	-7.56	0.01180	-1.186000	0.03179	-6.457000	0.01393	-2.934000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1236:0.1908:0.0:0.6857	8.454	0.32052	624	0.65661	.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.02632	734.33	34	chr12	7091773	.	C	T	734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.277;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.39;SOR=0.784	GT:AD:DP:GQ:PL	0/1:28,26:54:99:748,0,851	18	0	1	0
chr12	8222738	8222738	C	G	exonic	FAM90A1	.	nonsynonymous SNV	FAM90A1:NM_001319982:exon6:c.G479C:p.R160P,FAM90A1:NM_018088:exon7:c.G479C:p.R160P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00151528373394	.	.	9.046e-06	0	0	0	0	0	0	6.195e-05	6.5e-06	1	154602	rs756120013	1.378e-06	2.052e-06	0	2.768e-06	2.321e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.321e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.14303	T	0.335	0.18286	T	0.727	0.42493	P	0.206	0.37138	B	.	.	.	.	1	0.08975	N	.	.	.	2.64	0.12780	T	0.25	0.04456	N	0.342	0.38335	-0.9776	0.35548	T	0.013	0.05321	T	8	0.09366679	0.16595	T	0.001515	0.02343	T	0.011	0.01250	0.228	0.15406	0.12205267543	0.11705	0.0705449608713958	0.06991	0.561836197851	0.52685	0.437595844269	0.30248	T	0.002294	0.01691	T	-0.448314	0.01155	T	-0.700221	0.05814	T	0.045852147585364	0.04757	T	0.505449	0.15971	T	0.10567851	0.24987	0.14616956	0.34638	0.10567851	0.24987	0.14616956	0.34637	-5.276	0.39705	T	.	.	0.135	0.30894	B	.;.	.;.	0.401367	0.07724	4.405	0.80978998053221107	0.13461	0.00195	0.01126	N	AEFBI	0.091759	0.18582	N	-1.08787100177388	0.06866	0.317286	-1.25446829653085	0.05065	0.2404724	1.76369088713252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.742	-0.482	0.11476	-0.937000	0.04051	-1.564000	0.05161	-0.760000	0.03515	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	664.33	33	chr12	8222738	.	C	G	664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.239;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.07;MQRankSum=-0.994;QD=16.2;ReadPosRankSum=1.38;SOR=0.765	GT:AD:DP:GQ:PL	0/1:14,27:41:99:678,0,294	18	0	1	0
chr12	8932977	8932977	C	T	exonic	PHC1	.	nonsynonymous SNV	PHC1:NM_004426:exon8:c.C1520T:p.P507L	.	660	859	3	0	0	3	0.00174317	.	.	.	2331842	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.0212142432696	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010585625	0.0002	0.0004	0.0001	0.0002	0.0017	0.0002	0.0001	0.0006	0.0003	0	0.0003	0.0005	6.288e-05	5.094e-05	0.0017	0.0002	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0009	0.0002	0.0002	0.0005	0.0004	0	0	0.0009	0.0012	0	0.0002	0	0.0003	0.0006	0.0003	0.23	0.21066	T	0.084	0.41239	T	0.814	0.45487	P	0.052	0.25551	B	0.000800	0.41772	D	0.166790	1	0.81001	D	1.87	0.49600	L	0.32	0.58468	T	-2.24	0.52451	N	0.382	0.47580	-0.9969	0.30783	T	0.094	0.35604	T	10	0.20119074	0.36193	T	0.021214	0.43954	T	0.163	0.42028	0.282	0.23801	0.51829842692	0.51472	0.3652976624247382	0.36443	0.766525556682	0.64538	0.637933731079	0.58270	T	0.214385	0.57596	T	0.0903785	0.63232	D	-0.107954	0.62773	T	0.0718853268446148	0.08913	T	0.940306	0.80559	D	0.068064235	0.14796	0.055283997	0.09668	0.068064235	0.14796	0.055283997	0.09668	-6.081	0.46952	T	.	.	0.081	0.19518	B	.;.;.	.;.;.	4.251837	0.64550	24.7	0.87225210342667991	0.17076	0.96424	0.69071	D	AEFGI	0.688331	0.64937	D	0.0295030580483273	0.43201	2.617659	0.11903391977487	0.45524	2.813947	0.826030761764386	0.24608	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.9	4.9	0.63643	4.750000	0.61857	5.870000	0.50524	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.598000	0.31338	0.0:0.9177:0.0:0.0823	12.332	0.54371	599	0.68140	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006957	0.000000	0.005837	0.016484	0.083333	0.000000	0.006173	0.006173	0.02632	70.33	17	chr12	8932977	.	C	T	70.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.95;DP=473;ExcessHet=0;FS=5.395;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=30.85;MQRankSum=-1.474;QD=2.81;ReadPosRankSum=0.68;SOR=2.179	GT:AD:DP:GQ:PL	0/1:20,5:25:84:84,0,576	18	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.2105	2125.21	110	chr12	10930916	.	C	T	2125.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.6;DP=1538;ExcessHet=4.0268;FS=15.864;InbreedingCoeff=-0.2666;MLEAC=8;MLEAF=0.211;MQ=41.25;MQRankSum=0.943;QD=2.77;ReadPosRankSum=-0.264;SOR=2.412	GT:AD:DP:GQ:PL	0/1:79,14:93:99:243,0,2266	11	0	8	0
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3102.82	96	chr12	12477735	.	C	*	3102.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.45;DP=1056;ExcessHet=0.3441;FS=2.515;InbreedingCoeff=0.1244;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=2.14;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,41:87:99:.:.:1578,0,1797:.	14	0	5	0
chr12	16357695	16357695	C	T	exonic	MGST1	.	nonsynonymous SNV	MGST1:NM_001260511:exon3:c.C217T:p.R73C,MGST1:NM_001260512:exon3:c.C217T:p.R73C,MGST1:NM_001267598:exon3:c.C217T:p.R73C,MGST1:NM_020300:exon3:c.C217T:p.R73C,MGST1:NM_145764:exon3:c.C217T:p.R73C,MGST1:NM_145791:exon3:c.C217T:p.R73C,MGST1:NM_145792:exon3:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	2677725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.502	0.118788373125	7.7e-05	.	0.0001	9.93e-05	0	0.0002	0.0002	9.305e-05	0	0.0003	0.0001164	18	154602	rs373917994	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0001	2.257e-05	0	7.578e-05	0.0002	0.0003	0.0001	9.954e-05	0.0005	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.247e-05	0.0001	0.0001	7.252e-05	0	6.55e-05	0	0.0002	0.0002	0	0.0002	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.55	0.93268	H	0.32	0.58468	T	-7.72	0.96191	D	0.86	0.91047	0.118	0.84503	D	0.466	0.79372	T	10	0.82335246	0.81527	D	0.118788	0.79892	D	0.502	0.78475	.	.	0.845962634782	0.84448	0.8136751219624782	0.81323	0.0431053341588	0.04645	0.818475961685	0.84795	D	0.480711	0.80958	T	0.0806423	0.62116	D	0.210125	0.83672	D	0.924182653427124	0.58523	D	0.933507	0.84591	D	0.71239805	0.78740	0.5583689	0.74451	0.71239805	0.78741	0.5583689	0.74452	-13.615	0.91738	D	.	.	0.461	0.69095	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.178613	0.62890	24.5	0.9992816679546106	0.99222	0.90981	0.52629	D	AEFBI	0.886530	0.81799	D	0.673439131120672	0.77892	6.763144	0.557825351890349	0.71942	5.732537	0.99898833255758	0.38135	0.706548	0.73137	0	0.659464	0.62310	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	4.32	0.50899	3.336000	0.51830	0.801000	0.21659	0.599000	0.40250	0.993000	0.37899	0.232000	0.23790	0.990000	0.65344	0.1553:0.8447:0.0:0.0	13.588	0.61407	808	0.43318	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1003.33	36	chr12	16357695	.	C	T	1003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.36;DP=731;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.03;SOR=0.52	GT:AD:DP:GQ:PL	0/1:40,40:80:99:1017,0,895	18	0	1	0
chr12	31500446	31500446	G	A	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_001308339:exon2:c.C113T:p.S38L	.	567	922	33	0	0	33	0.0175812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	0.00419329	0.0194	0	0.0341	0	.	0.0167	0.0405	0.0215	0.0026778	414	154602	rs141702066	0.0106	0.0052	0.0096	0.0115	0.0190	0.0103	0.0102	0.0147	0.0144	0.0020	0.0038	0.0089	0.0001	0.0015	0.0190	0.0118	0.0106	0.0156	0.0080	0.0080	0.0086	0.0074	0.0131	0.0076	0.0075	0.0124	0.0121	0.0021	0.0186	0.0065	0.0095	0.0002	0.0008	0.0136	0.0131	0.0052	0.0131	0.126	0.27194	T	0.123	0.35582	T	0.893	0.49136	P	0.519	0.48163	P	0.142966	0.18226	U	0.309743	1	0.08975	N	.	.	.	4.55	0.01948	T	-1.17	0.29933	N	0.03	0.00717	-0.8889	0.49029	T	0.006	0.01870	T	8	0.0034925938	0.00062	T	.	.	.	0.053	0.14996	.	.	.	.	0.06382100541606522	0.06321	.	.	.	.	.	0.021384	0.16659	T	-0.76798	0.00013	T	-0.863603	0.00805	T	0.00830917297184111	0.00100	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18206	B	.	.	0.007160	0.04332	1.101	0.90153726147446234	0.19431	0.00230	0.01288	N	AEFBI	0.034594	0.04311	N	-0.671784551672223	0.16829	0.8608266	-0.928904405062539	0.11413	0.5813171	0.999657046820802	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	0.539	0.539	0.16348	-1.590000	0.02205	-0.492000	0.08854	-1.495000	0.01039	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	.	.	.	958	0.09170	.	ETFBKMT	Thyroid	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	908.33	40	chr12	31500446	.	G	A	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.163;DP=682;ExcessHet=0;FS=2.154;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=1.17;QD=14.65;ReadPosRankSum=0.753;SOR=0.467	GT:AD:DP:GQ:PL	0/1:27,35:62:99:922,0,672	18	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	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,21:65:99:0|1:39764776_G_C:220,0,1189:39764776	2	0	16	1
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	447.66	61	chr12	39764778	.	G	A	447.66	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.948;DP=1036;ExcessHet=0.7564;FS=304.398;InbreedingCoeff=-0.1414;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.14;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,21:65:99:0|1:39764776_G_C:220,0,1189:39764776	14	0	4	1
chr12	40408326	40408326	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	430	1059	31	2	0	35	0.0162564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0135	0.0053	0.0109	0	0	0.0030	0.0169	0.0177	0.0020375	315	154602	rs370137485	0.0062	0.0049	0.0057	0.0067	0.0196	0.0061	0.0060	0.0187	0.0184	0.0009	0.0024	0.0034	7.934e-05	0.0020	0.0078	0.0056	0.0058	0.0196	0.0043	0.0044	0.0046	0.0041	0.0166	0.0041	0.0040	0.0137	0.0126	0.0014	0.0658	0.0027	0.0035	0	0.0008	0.0136	0.0057	0.0038	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	998.33	33	chr12	40408326	.	C	T	998.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.112;DP=712;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-1.227;SOR=0.564	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1012,0,1207	18	0	1	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:934,59:994:99:.:.:696,0,38921:.	8	0	11	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	47426.9	1213	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47426.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.612;DP=20984;ExcessHet=20.8569;FS=1.658;InbreedingCoeff=-0.6522;MLEAC=8;MLEAF=0.211;MQ=56.57;MQRankSum=-27.39;QD=4.75;ReadPosRankSum=-2.14;SOR=1.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:938,71:1011:99:.:.:1215,0,38430:.	11	0	8	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1385.93	216	chr12	40509053	.	T	A	1385.93	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.103;DP=3219;ExcessHet=1.3;FS=2.065;InbreedingCoeff=-0.3398;MLEAC=7;MLEAF=0.35;MQ=59.41;MQRankSum=-11.22;QD=1.61;ReadPosRankSum=2.26;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,14:159:99:0|1:40509053_T_A:151,0,6018:40509053	5	0	5	9
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1396.34	219	chr12	40509056	.	G	A	1396.34	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.348;DP=3149;ExcessHet=1.3;FS=2.086;InbreedingCoeff=-0.3341;MLEAC=7;MLEAF=0.35;MQ=59.38;MQRankSum=-11.72;QD=1.59;ReadPosRankSum=2.49;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,14:160:99:0|1:40509053_T_A:148,0,6068:40509053	5	0	5	9
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1340.22	217	chr12	40509061	.	G	C	1340.22	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.07;DP=3190;ExcessHet=1.3;FS=0.986;InbreedingCoeff=-0.3424;MLEAC=7;MLEAF=0.35;MQ=59.42;MQRankSum=-11.56;QD=1.52;ReadPosRankSum=2.14;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,13:158:99:0|1:40509053_T_A:109,0,6049:40509053	5	0	5	9
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1357.69	217	chr12	40509062	.	A	C	1357.69	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.081;DP=3187;ExcessHet=2.0135;FS=0.989;InbreedingCoeff=-0.3665;MLEAC=8;MLEAF=0.4;MQ=59.41;MQRankSum=-11.47;QD=1.32;ReadPosRankSum=2.13;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,13:158:99:0|1:40509053_T_A:109,0,6049:40509053	4	0	6	9
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1399.28	221	chr12	40509076	.	G	A	1399.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.944;DP=2985;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.56;QD=1.61;ReadPosRankSum=1.76;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,13:153:99:0|1:40509076_G_A:124,0,5801:40509076	5	0	5	9
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1381.28	214	chr12	40509081	.	T	C	1381.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.285;DP=2965;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.3333;MLEAC=7;MLEAF=0.35;MQ=59.27;MQRankSum=-11.6;QD=1.58;ReadPosRankSum=2.07;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,13:153:99:0|1:40509076_G_A:124,0,5803:40509076	5	0	5	9
chr12	43550956	43550956	T	C	exonic	ADAMTS20	.	nonsynonymous SNV	ADAMTS20:NM_025003:exon2:c.A406G:p.N136D	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0135331889893	.	0.000199681	1.387e-05	0	0	0	0	2.454e-05	0	0	1.29e-05	2	154602	rs564076811	4.835e-06	4.788e-06	1.37e-06	8.357e-06	2.302e-05	2.01e-06	1.29e-06	1.96e-06	1.29e-06	0	2.302e-05	0	0	0	0	5.44e-06	0	0	6.567e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.093	0.58089	T	.	.	.	.	.	.	0.000871	0.41335	D	0.000000	0.999983	0.54805	D	2.04	0.55661	M	3.39	0.05710	T	-3.31	0.65972	D	0.753	0.80866	-1.1778	0.00403	T	0.042	0.17869	T	10	0.48474863	0.60641	T	0.013533	0.33003	T	0.201	0.48592	0.517	0.61763	0.514127983839	0.51054	0.6906894559292883	0.69008	0.270020682365	0.29526	0.644956171513	0.59269	T	.	.	.	-0.142392	0.29510	T	-0.442313	0.28550	T	0.984251379966736	0.75626	D	0.759724	0.38410	T	.	.	.	.	.	.	.	.	-6.302	0.48738	T	.	.	0.298	0.52809	B	.;.;.	.;.;.	4.475051	0.69770	25.4	0.99656296825870638	0.77631	0.98225	0.80702	D	AEFDBI	0.867434	0.78720	D	0.47895594588035	0.65862	4.876201	0.41120263995064	0.62261	4.438668	0.999999999601767	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	4.24	4.24	0.49486	7.329000	0.78434	7.423000	0.58731	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.548000	0.30127	0.0:0.0:0.0:1.0	14.055	0.64287	792	0.45996	.;Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	714.33	34	chr12	43550956	.	T	C	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.267;DP=694;ExcessHet=0;FS=2.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=1.1;SOR=1.187	GT:AD:DP:GQ:PL	0/1:35,27:62:99:728,0,1015	18	0	1	0
chr12	43795599	43795599	C	G	exonic	TWF1	.	nonsynonymous SNV	TWF1:NM_002822:exon9:c.G1039C:p.A347P,TWF1:NM_001242397:exon10:c.G1060C:p.A354P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0144312544856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.43708	D	0.117	0.37037	T	0.337	0.48047	B	0.062	0.46637	B	0.000683	0.42383	D	0.265516	0.639358	0.32861	D	0.69	0.16971	N	1.43	0.32958	T	-0.49	0.16187	N	0.149	0.18920	-1.0276	0.21233	T	0.049	0.20987	T	10	0.12374139	0.23494	T	0.014431	0.34542	T	0.104	0.29647	0.084	0.00795	0.585747170787	0.58248	0.23576959825458196	0.23491	0.817697198664	0.67010	0.534688055515	0.43694	T	0.075626	0.35223	T	-0.107292	0.35216	T	-0.391894	0.34330	T	0.621706008911133	0.37276	D	0.871313	0.57716	D	0.070835754	0.15635	0.13977225	0.33339	0.070835754	0.15634	0.13977225	0.33338	-2.734	0.07593	T	.	.	0.091	0.13080	B	.;.;.	.;.;.	3.367160	0.46514	22.3	0.99639446999657821	0.76571	0.97889	0.77893	D	AEFDGBI	0.576261	0.57832	D	-0.035313430903305	0.40260	2.387949	0.0870892113881607	0.43898	2.682109	0.999123301601903	0.38507	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	4.34	0.51267	1.347000	0.33580	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.719:0.0:0.281	8.911	0.34714	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	164.42	118	chr12	43795599	.	C	G	164.42	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-2.95;DP=2476;ExcessHet=1.3;FS=200.31;InbreedingCoeff=-0.2578;MLEAC=5;MLEAF=0.192;MQ=57.86;MQRankSum=-0.659;QD=0.28;ReadPosRankSum=1.47;SOR=12.301	GT:AD:DP:GQ:PL	0/1:95,33:147:19:19,0,1718	8	0	5	6
chr12	48088943	48088943	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon5:c.A238G:p.S80G,SENP1:NM_001267595:exon5:c.A238G:p.S80G	.	429	1056	37	0	0	37	0.0172173	.	.	.	702319	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0039	0.00299521	0.0092	0.0005	0.0027	0.0003	0.0343	0.0101	0.0171	0.0060	0.0054527	843	154602	rs112688170	0.0050	0.0050	0.0049	0.0051	0.0210	0.0049	0.0049	0.0179	0.0168	0.0007	0.0018	0.0345	2.572e-05	0.0284	0.0210	0.0035	0.0067	0.0045	0.0053	0.0053	0.0045	0.0062	0.0043	0.0050	0.0049	0.0039	0.0038	0.0005	0.0077	0.0024	0.0326	0.0002	0.0300	0.0170	0.0043	0.0028	0.0021	0.004	0.65419	D	0.202	0.27414	T	0.018	0.20002	B	0.025	0.25995	B	0.000851	0.41440	D	0.194749	1	0.81001	D	0.805	0.20218	L	2.38	0.15843	T	-0.97	0.56144	N	0.256	0.29313	-1.0899	0.05549	T	0.024	0.10419	T	10	0.0037702918	0.00070	T	.	.	.	0.048	0.13305	.	.	0.338449385132	0.33456	0.28745014231400146	0.28658	.	.	0.442630141973	0.30936	T	0.10795	0.42057	T	-0.554129	0.00275	T	-0.566132	0.15806	T	0.019706397154617	0.00672	T	0.780822	0.41560	T	0.121635914	0.28599	0.12576467	0.30298	0.121635914	0.28599	0.12576467	0.30297	-4.725	0.33705	T	.	.	0.085	0.17488	B	.;.;.;.	.;.;.;.	3.339620	0.46013	22.2	0.99198206286095336	0.55201	0.98662	0.85282	D	AEFBI	0.565628	0.57194	D	-0.0592072060781748	0.39192	2.307282	0.143442539337478	0.46794	2.919761	0.984952414377167	0.30802	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.666000	0.61248	5.086000	0.47311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.545	0.67616	497	0.76227	.;.;.;.	.	.	.	.	rs112688170	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.005051	0.019022	0.017544	0.000000	0.017241	0.015244	0.007576	0.02632	829.33	29	chr12	48088943	.	T	C	829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.971;DP=682;ExcessHet=0;FS=11.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.863;SOR=0.103	GT:AD:DP:GQ:PL	0/1:19,34:53:99:843,0,523	18	0	1	0
chr12	48203268	48203268	T	G	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.A25C:p.T9P	.	431	1057	34	0	0	34	0.0158287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0038	0.00299521	0.0065	0.0004	0.0020	0.0001	0.0260	0.0072	0.0178	0.0054	0.0058408	903	154602	rs112948514	0.0073	0.0073	0.0073	0.0073	0.0154	0.0071	0.0071	0.0124	0.0113	0.0006	0.0018	0.0340	2.773e-05	0.0274	0.0154	0.0047	0.0082	0.0049	0.0052	0.0052	0.0044	0.0061	0.0043	0.0049	0.0048	0.0039	0.0037	0.0005	0.0077	0.0018	0.0323	0.0002	0.0292	0.0170	0.0043	0.0028	0.0031	0.004	0.65419	D	0.029	0.54541	D	0.534	0.37787	P	0.143	0.33763	B	0.041180	0.23978	N	0.207594	1	0.08975	N	1.685	0.43254	L	4.4	0.02215	T	-3.22	0.64939	D	0.395	0.43610	-0.9549	0.40114	T	0.006	0.01944	T	10	0.004396379	0.00089	T	.	.	.	0.090	0.26093	.	.	0.29132392195	0.28731	0.3578521323055992	0.35699	0.0986389603971	0.11146	0.284889936447	0.08183	T	0.018115	0.14658	T	-0.471763	0.00829	T	-0.447819	0.27938	T	0.0196901589367616	0.00671	T	0.506749	0.16047	T	0.28944045	0.51940	0.40771738	0.65109	0.28944045	0.51940	0.40771738	0.65109	-8.131	0.61959	D	.	.	0.137	0.29914	B	.	.	1.241742	0.16376	12.50	0.95192574500094318	0.26377	0.39853	0.26306	N	AEFBCI	0.339312	0.43650	N	-0.503047978824176	0.21981	1.170499	-0.618759201248743	0.19011	1.018176	0.0338251342059499	0.14124	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.36	1.73	0.23565	0.839000	0.27239	-0.234000	0.10651	0.645000	0.52629	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.1739:0.1855:0.0:0.6406	3.208	0.06275	736	0.53558	.	.	.	.	.	rs112948514	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.005051	0.017663	0.017544	0.000000	0.025862	0.015244	0.007576	0.02632	1032.33	34	chr12	48203268	.	T	G	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=898;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.11;ReadPosRankSum=-0.998;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,28:57:99:0|1:48203268_T_G:1046,0,1041:48203268	18	0	1	0
chr12	49797324	49797324	G	A	exonic	NCKAP5L	.	nonsynonymous SNV	NCKAP5L:NM_001037806:exon8:c.C536T:p.A179V,NCKAP5L:NM_001368048:exon9:c.C536T:p.A179V	.	412	1103	7	0	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	.	0.0002	0.00239617	0.0013	0	0.0002	0	0	6.724e-05	0.0013	0.0085	0.0010026	155	154602	rs372380277	0.0005	0.0005	0.0002	0.0007	0.0068	0.0004	0.0004	0.0064	0.0062	0	0	0	0	0	0.0016	4.318e-05	0.0003	0.0068	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	7.22e-05	0	0	0.0003	0	0	0.0034	5.883e-05	0	0.0075	0.003	0.68238	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999506	0.47320	D	.	.	.	-0.3	0.67874	T	-1.3	0.32590	N	0.249	0.28146	-0.2536	0.76262	T	0.367	0.72750	T	9	0.0070910156	0.00161	T	.	.	.	0.215	0.50805	.	.	0.465294880039	0.46155	0.5774319791458065	0.57672	0.450330495102	0.44799	0.718104481697	0.69771	T	.	.	.	-0.277273	0.10960	T	-0.166214	0.57788	T	0.0822954001622732	0.10278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.44872	B	.	.	4.637716	0.73806	26.1	0.99917529624415835	0.98518	0.98860	0.87816	D	AEFDGBI	0.719930	0.67066	D	0.569269807903639	0.71262	5.624357	0.557600659998608	0.71927	5.730133	0.999999999999927	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	7.291000	0.78076	9.866000	0.82092	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.0:0.0:1.0:0.0	16.346	0.82968	336	0.86165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	1135.33	39	chr12	49797324	.	G	A	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.014;DP=762;ExcessHet=0;FS=0.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-1.277;SOR=0.9	GT:AD:DP:GQ:PL	0/1:28,43:71:99:1149,0,699	18	0	1	0
chr12	49838825	49838825	C	T	exonic	BCDIN3D	.	nonsynonymous SNV	BCDIN3D:NM_181708:exon2:c.G425A:p.R142Q	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00813271893478	0.0032	0.00299521	0.0042	0.0011	0.0010	0	0.0024	0.0052	0.0033	0.0071	0.0041267	638	154602	rs145982210	0.0048	0.0048	0.0049	0.0047	0.0061	0.0047	0.0047	0.0057	0.0055	0.0006	0.0019	0.0021	2.519e-05	0.0022	0.0019	0.0054	0.0041	0.0061	0.0032	0.0032	0.0037	0.0028	0.0054	0.0030	0.0029	0.0049	0.0047	0.0010	0	0.0022	0.0023	0	0.0013	0.0034	0.0054	0.0014	0.0050	0.542	0.06757	T	0.572	0.08746	T	0.149	0.27956	B	0.008	0.13708	B	0.000593	0.43095	N	0.241574	1	0.08975	N	1.805	0.47535	L	0.89	0.45636	T	-0.79	0.21860	N	0.08	0.05542	-1.0480	0.14960	T	0.044	0.19070	T	10	0.004988134	0.00107	T	0.008133	0.21547	T	0.029	0.06676	.	.	0.33340067248	0.32956	0.6479157828531507	0.64726	0.150802290062	0.17009	0.33979767561	0.16408	T	0.006067	0.05507	T	-0.524699	0.00413	T	-0.523441	0.19946	T	0.00949717499429595	0.00122	T	0.780122	0.41468	T	0.15161437	0.34457	0.085644804	0.19788	0.15161437	0.34456	0.085644804	0.19788	-5.284	0.39784	T	.	.	0.101	0.17488	B	.	.	3.328324	0.45808	22.2	0.99807371135069456	0.89174	0.46601	0.27796	N	AEFDGBCI	0.056253	0.10384	N	-0.478164655997806	0.22798	1.219837	-0.393901366503099	0.25177	1.383074	0.999486479690278	0.39952	0.712529	0.81865	0	0.69481	0.67340	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	5.42	3.58	0.40133	2.039000	0.40815	4.844000	0.45312	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.803000	0.37862	0.1535:0.5965:0.1654:0.0847	4.435	0.10970	292	0.88363	Bin3-type S-adenosyl-L-methionine 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	0.001036	0.000000	0.000000	0.003497	0.000000	0.000000	0.003049	0.000000	0.02632	1637.33	34	chr12	49838825	.	C	T	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.62;DP=820;ExcessHet=0;FS=1.371;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.216;SOR=0.549	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1651,0,1982	18	0	1	0
chr12	50354344	50354344	C	T	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.G2488A:p.G830S	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00663389857215	0.0018	0.000599042	0.0018	0	0	0	0	0.0015	0	0.0028	0.0004722	73	154602	rs201058635	0.0019	0.0019	0.0019	0.0019	0.0028	0.0019	0.0019	0.0025	0.0024	0.0004	0.0009	0.0010	0	0.0002	0.0026	0.0021	0.0018	0.0028	0.0015	0.0015	0.0014	0.0015	0.0027	0.0013	0.0013	0.0021	0.0019	0.0003	0	0.0027	0.0009	0	0	0.0068	0.0022	0.0019	0.0027	0.351	0.12469	T	0.316	0.19362	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	2.87	0.10386	T	-0.78	0.21644	N	0.055	0.06059	-0.9766	0.35772	T	0.016	0.06664	T	9	0.0044077337	0.00090	T	0.006634	0.17501	T	0.038	0.09825	.	.	0.0297737177859	0.01360	0.011531809175436452	0.01113	.	.	0.230228632689	0.01985	T	0.00351	0.02920	T	-0.705759	0.00034	T	-0.791165	0.02133	T	0.00138369030348938	0.00014	T	0.39496	0.09912	T	0.06793707	0.14756	0.08521426	0.19661	0.06793707	0.14756	0.08521426	0.19660	-3.699	0.19304	T	.	.	0.111	0.23535	B	.;.	.;.	1.175748	0.15656	12.01	0.56962480557347295	0.05665	0.02310	0.06631	N	AEFDGBIJ	.	.	.	-1.05392851800565	0.07510	0.3491396	-1.10820249206095	0.07543	0.3672934	0.999979663198991	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.0	0.00009	3	.	.	3.39	-0.495	0.11430	0.431000	0.21163	-0.035000	0.12744	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.351000	0.25682	0.0:0.4418:0.0:0.5582	7.700	0.27785	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004728	0.000000	0.007463	0.000000	0.000000	0.000000	0.005747	0.000000	0.02632	2642.33	93	chr12	50354344	.	C	T	2642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.901;DP=1887;ExcessHet=0;FS=3.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.328;SOR=0.724	GT:AD:DP:GQ:PL	0/1:125,102:227:99:2656,0,3344	18	0	1	0
chr12	52302070	52302070	G	C	exonic	KRT86	.	nonsynonymous SNV	KRT86:NM_001320198:exon3:c.G154C:p.G52R	Monilethrix, Autosomal dominant	4	1490	27	1	0	29	0.00963775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.146648324515	.	0.00279553	0.0042	0.0002	0.0030	0.0064	0.0003	0.0036	0.0058	0.0077	0.001191	31	26028	rs376835872	0.0020	0.0026	0.0018	0.0022	0.0079	0.0019	0.0019	0.0063	0.0061	0.0002	0.0016	0.0283	0.0042	0.0002	0.0079	0.0009	0.0044	0.0068	0.0020	0.0021	0.0018	0.0021	0.0078	0.0018	0.0017	0.0058	0.0051	0.0003	0	0.0017	0.0272	0.0062	0.0006	0.0034	0.0012	0.0033	0.0078	0.004	0.65419	D	0.013	0.63109	D	0.99	0.63424	D	0.928	0.66279	D	0.003547	0.34793	U	0.000000	0.962343	0.38285	D	2.53	0.73802	M	-3.22	0.93352	D	-3.94	0.73378	D	0.567	0.59053	0.958	0.96514	D	0.875	0.95850	D	10	0.009016246	0.00204	T	0.146648	0.82875	D	0.678	0.88157	0.402	0.43245	0.907128477934	0.90620	0.10990278393304766	0.10919	2.01890163659	0.93980	0.691939294338	0.65984	T	0.120638	0.57973	T	-0.0406634	0.45850	T	0.17226	0.81543	D	0.026200499663735	0.01433	T	0.761924	0.39120	T	0.12913589	0.30170	0.23273379	0.48443	0.12467664	0.29247	0.20505106	0.44655	-7.39	0.56834	T	0.21499002269076986	0.28896	0.231	0.46389	B	.;.;.	.;.;.	4.280824	0.65203	24.8	0.99916154193803342	0.98449	0.97414	0.74598	D	AEFDBI	0.450871	0.50509	N	0.669673838016625	0.77645	6.715113	0.603116068978264	0.75167	6.262736	0.999992520991363	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	3.430000	0.52575	.	.	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.227000	0.22653	0.0901:0.0:0.9099:0.0	11.014	0.46892	722	0.55239	Keratin type II head;Keratin type II head;Keratin type II head	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009150	0.000000	0.010929	0.012397	0.000000	0.017241	0.012579	0.003788	0.05263	1990.83	35	chr12	52302070	.	G	C	1990.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.007;DP=776;ExcessHet=0.119;FS=4.496;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=47.76;MQRankSum=-0.48;QD=12.37;ReadPosRankSum=1.54;SOR=0.346	GT:AD:DP:GQ:PL	0/1:33,46:79:99:1150,0,1031	17	0	2	0
chr12	54962733	54962733	G	A	exonic	TESPA1	.	nonsynonymous SNV	TESPA1:NM_001351150:exon6:c.C538T:p.P180S,TESPA1:NM_001351148:exon7:c.C751T:p.P251S,TESPA1:NM_001351151:exon7:c.C406T:p.P136S,TESPA1:NM_001351152:exon7:c.C406T:p.P136S,TESPA1:NM_001351153:exon7:c.C406T:p.P136S,TESPA1:NM_001351154:exon7:c.C406T:p.P136S,TESPA1:NM_001351155:exon7:c.C406T:p.P136S,TESPA1:NM_014796:exon7:c.C751T:p.P251S,TESPA1:NM_001261844:exon8:c.C751T:p.P251S,TESPA1:NM_001098815:exon9:c.C1165T:p.P389S,TESPA1:NM_001136030:exon9:c.C1165T:p.P389S,TESPA1:NM_001351149:exon10:c.C1165T:p.P389S	.	435	1023	60	4	0	68	0.0321665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0033	0.00479233	0.0060	0.0008	0.0034	0.0001	0.0006	0.0064	0.0056	0.0143	0.0054204	838	154602	rs79969168	0.0050	0.0050	0.0047	0.0054	0.0206	0.0049	0.0049	0.0176	0.0165	0.0005	0.0056	0.0219	5.038e-05	0.0005	0.0206	0.0043	0.0062	0.0139	0.0041	0.0041	0.0040	0.0042	0.0130	0.0038	0.0037	0.0105	0.0095	0.0008	0	0.0088	0.0205	0.0002	0.0002	0.0514	0.0042	0.0076	0.0130	0.108	0.29420	T	0.115	0.39040	T	0.009	0.15093	B	0.007	0.12992	B	0.884550	0.08731	N	0.941133	1	0.08975	N	1.3	0.32576	L	1.01	0.41058	T	-0.43	0.14390	N	0.089	0.08786	-1.0110	0.26604	T	0.047	0.20195	T	10	0.005149156	0.00112	T	.	.	.	0.057	0.16321	.	.	0.134241683229	0.13084	0.11741497963002354	0.11669	0.156741707563	0.17697	0.22092320025	0.01364	T	0.00258	0.01974	T	-0.646041	0.00077	T	-0.689738	0.06404	T	0.00151438580155197	0.00015	T	0.512349	0.16405	T	0.017450266	0.00273	0.025835352	0.00643	0.017450266	0.00273	0.025835352	0.00643	-3.329	0.14113	T	.	.	0.081	0.11893	B	.;.;.;.;.	.;.;.;.;.	-0.185425	0.03167	0.516	0.71880267870492953	0.09780	0.02568	0.07109	N	AEFBI	0.073802	0.14774	N	-0.917725297604605	0.10427	0.498243	-0.956001895449828	0.10783	0.5453844	0.126746297919489	0.17006	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.37	1.32	0.20897	-0.500000	0.06487	0.844000	0.22071	0.676000	0.76740	0.000000	0.06391	0.031000	0.21272	0.012000	0.09680	0.2879:0.0:0.4565:0.2556	2.444	0.04227	783	0.47268	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.005051	0.016304	0.011696	0.000000	0.017241	0.027439	0.026515	0.07895	5584.79	35	chr12	54962733	.	G	A	5584.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.971;DP=1038;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.193;SOR=0.706	GT:AD:DP:GQ:PL	0/1:85,61:146:99:1597,0,2208	16	0	3	0
chr12	55902291	55902291	C	G	exonic	PYM1	.	nonsynonymous SNV	PYM1:NM_001143853:exon3:c.G193C:p.E65Q,PYM1:NM_032345:exon3:c.G196C:p.E66Q	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	.	0.00599042	0.0024	0	0	0.0320	0	0.0002	0.0022	0.0003	0.0022703	351	154602	rs3802998	0.0009	0.0009	0.0009	0.0009	0.0304	0.0009	0.0009	0.0289	0.0284	0	2.236e-05	0	0.0304	1.872e-05	0.0003	2.428e-05	0.0012	0.0005	0.0012	0.0012	0.0009	0.0014	0.0317	0.0010	0.0010	0.0277	0.0262	0	0	0.0001	0	0.0317	0	0	4.41e-05	0.0019	0.0006	0.069	0.35537	T	0.259	0.33330	T	0.988	0.77913	D	0.676	0.67921	P	0.004820	0.33369	N	0.288142	0.999964	0.81001	D	.	.	.	1.38	0.34253	T	-1.68	0.40082	N	0.097	0.07811	-1.0680	0.09858	T	0.067	0.27640	T	10	0.0042446554	0.00085	T	.	.	.	0.181	0.45247	.	.	0.573516848353	0.57020	0.3115044351131303	0.31063	0.983668549786	0.73829	0.478855699301	0.35899	T	0.073101	0.34616	T	-0.537444	0.00347	T	-0.513361	0.20970	T	0.0541548762925271	0.06215	T	0.812519	0.46414	T	0.16093901	0.36068	0.10778246	0.25953	0.16093901	0.36068	0.10778246	0.25952	-2.272	0.04404	T	.	.	0.124	0.28492	B	.;.	.;.	4.258825	0.64710	24.7	0.99731889382789152	0.82833	0.98768	0.86602	D	AEFDBI	0.753532	0.69369	D	0.540309224475647	0.69492	5.364881	0.561068739460548	0.72171	5.767904	0.999999999916539	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	4.701000	0.61496	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.757	0.88362	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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	590.33	44	chr12	55902291	.	C	G	590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.1;DP=783;ExcessHet=0;FS=5.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-1.217;SOR=1.577	GT:AD:DP:GQ:PL	0/1:35,23:58:99:604,0,838	18	0	1	0
chr12	56267173	56267173	C	A	exonic	COQ10A	.	nonsynonymous SNV	COQ10A:NM_144576:exon1:c.C55A:p.R19S	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00259585	0.0141	0	0	0	0	0	0	0.0247	0.0020698	320	154602	rs568001082	0.0008	0.0021	0.0008	0.0008	0.0499	0.0008	0.0007	0.0464	0.0450	0.0004	0.0499	0	0.0080	0	0.0009	4.341e-05	0.0011	0.0019	0.0038	0.0038	0.0032	0.0044	0.0309	0.0035	0.0034	0.0286	0.0277	0.0009	0	0.0309	0	0.0078	0	0	0.0001	0.0014	0.0031	0.702	0.04148	T	0.421	0.14075	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999732	0.20548	N	-0.55	0.02420	N	2.0	0.21473	T	-0.24	0.10833	N	0.099	0.08088	-0.9627	0.38664	T	0.013	0.04843	T	9	0.002100557	0.00030	T	.	.	.	0.030	0.07022	0.285	0.24280	.	.	0.4475894258616116	0.44676	0.297847266594	0.32164	0.838425993919	0.87855	D	0.013244	0.11493	T	-0.588296	0.00172	T	-0.521106	0.20182	T	0.0211582721060911	0.00818	T	0.435056	0.11905	T	0.08988719	0.21017	0.054577522	0.09415	0.08988719	0.21016	0.054577522	0.09414	-4.163	0.26214	T	.	.	0.132	0.28578	B	.	.	0.651451	0.10201	6.939	0.75566767454852679	0.11125	0.10308	0.15851	N	ALL	0.071155	0.14154	N	-1.27055219993076	0.04035	0.1813595	-1.22553272380864	0.05502	0.2623492	0.999999999996666	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	3.95	-1.75	0.07598	0.036000	0.13706	0.170000	0.15507	-0.291000	0.06292	0.061000	0.21800	0.016000	0.20520	0.054000	0.15518	0.2734:0.3268:0.2991:0.1007	2.242	0.03777	368	0.84463	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000562	0.000000	0.000000	0.000000	0.000000	0.009434	0.000000	0.000000	0.02632	531.33	26	chr12	56267173	.	C	A	531.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.114;DP=657;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-1.24;SOR=0.593	GT:AD:DP:GQ:PL	0/1:20,21:41:99:545,0,491	18	0	1	0
chr12	56773955	56773955	A	T	exonic	HSD17B6	.	nonsynonymous SNV	HSD17B6:NM_003725:exon2:c.A103T:p.T35S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.906	0.253981040706	.	0.000399361	4.949e-05	0	0	0	0	1.5e-05	0	0.0003	5.17e-05	8	154602	rs562369944	1.847e-05	1.847e-05	8.167e-06	2.888e-05	0.0003	1.265e-05	1.084e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	3.311e-05	0.0003	1.315e-05	1.313e-05	1.286e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.011	0.91255	D	0.015	0.61642	D	0.999	0.77913	D	0.986	0.76916	D	0.000675	0.42516	D	0.096640	0.99999	0.58761	D	2.35	0.67516	M	-3.27	0.93640	D	-3.77	0.74051	D	0.755	0.77413	1.015	0.97450	D	0.903	0.96799	D	10	0.91238445	0.90602	D	0.253981	0.89233	D	0.906	0.97436	0.923	0.98673	0.946637228521	0.94607	0.6341376563070938	0.63347	0.506379211434	0.48843	0.752071559429	0.74753	T	0.830557	0.95949	D	0.116508	0.66020	D	0.251546	0.85696	D	0.770402729511261	0.44464	D	0.928907	0.73860	D	0.6882687	0.77418	0.6013197	0.76837	0.6882687	0.77419	0.6013197	0.76837	-7.116	0.54875	T	.	.	0.334	0.67711	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.885258	0.56491	23.7	0.99684330935365029	0.79507	0.99526	0.97076	D	AEFDBI	0.968151	0.99062	D	0.9055483765668	0.92028	11.19444	0.837857981422829	0.92288	11.34033	0.99998519720763	0.51787	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.08	5.08	0.68373	8.838000	0.91746	8.432000	0.77174	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	14.266	0.65667	161	0.93754	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2705.33	36	chr12	56773955	.	A	T	2705.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=842;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.383;SOR=0.68	GT:AD:DP:GQ:PL	0/1:99,96:195:99:2719,0,2711	18	0	1	0
chr12	57455762	57455762	C	G	exonic	INHBE	.	nonsynonymous SNV	INHBE:NM_031479:exon1:c.C226G:p.L76V	.	.	.	.	.	.	.	.	.	.	.	2687337	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.464	0.0556803463396	.	0.000199681	0.0001	0	8.754e-05	0	0	0	0	0.0010	0.0001164	18	154602	rs567902594	5.131e-05	5.199e-05	3.131e-05	7.151e-05	0.0008	4.192e-05	3.823e-05	0.0006	0.0006	0	0	0	0	0	0	5.396e-06	6.624e-05	0.0008	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.023	0.91255	D	0.013	0.92824	D	0.952	0.54136	P	0.833	0.59784	P	0.000001	0.84330	D	0.000000	0.998352	0.44809	D	3.055	0.86842	M	-1.59	0.82076	D	-0.45	0.41046	N	0.215	0.24010	0.268	0.87031	D	0.624	0.86784	D	10	0.105045885	0.19396	T	0.05568	0.66325	D	0.464	0.76023	0.462	0.53079	0.950479172724	0.94996	0.360183857631961	0.35932	0.282545280783	0.30708	0.402290225029	0.25387	T	0.499825	0.82068	T	-0.186622	0.22754	T	-0.12263	0.61586	T	0.220072201550747	0.21468	T	0.59824	0.32946	T	0.5418349	0.69499	0.50855535	0.71598	0.5418349	0.69500	0.50855535	0.71599	-7.119	0.54897	T	.	.	0.126	0.29200	B	.;.	.;.	3.411775	0.47334	22.4	0.9978200639625141	0.86867	0.58800	0.30740	D	AEFGBCI	0.498743	0.53272	N	0.476850431159213	0.65742	4.860756	0.398047940375729	0.61443	4.344613	0.999999806040919	0.74766	0.627647	0.40530	0	0.541556	0.11502	0	0.672317	0.60874	0	0.530356	0.10902	0	.	.	4.66	3.77	0.42499	0.926000	0.28405	2.694000	0.34110	0.599000	0.40250	0.048000	0.21332	1.000000	0.68203	0.997000	0.79791	0.0:0.8925:0.0:0.1075	8.069	0.29841	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1188.33	34	chr12	57455762	.	C	G	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.543;DP=750;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.747;SOR=0.578	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1202,0,1788	18	0	1	0
chr12	57476957	57476957	G	T	exonic	ARHGAP9	.	nonsynonymous SNV	ARHGAP9:NM_001080156:exon4:c.C325A:p.L109I,ARHGAP9:NM_001319852:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367422:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367424:exon4:c.C325A:p.L109I,ARHGAP9:NM_001367426:exon4:c.C325A:p.L109I,ARHGAP9:NM_001080157:exon5:c.C877A:p.L293I,ARHGAP9:NM_032496:exon6:c.C877A:p.L293I,ARHGAP9:NM_001319850:exon9:c.C877A:p.L293I	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	7.7e-05	0.00599042	0.0026	9.697e-05	0.0003	0.0245	0.0086	0.0004	0.0023	0.0005	0.0023544	364	154602	rs149553969	0.0010	0.0010	0.0010	0.0009	0.0168	0.0009	0.0009	0.0157	0.0153	0.0001	0.0002	0	0.0168	0.0067	0	0.0001	0.0033	0.0005	0.0017	0.0017	0.0014	0.0021	0.0249	0.0015	0.0015	0.0214	0.0201	0.0003	0	0.0005	0	0.0249	0.0089	0	0.0002	0.0019	0.0004	0.218	0.27310	T	0.403	0.16280	T	0.124	0.26825	B	0.063	0.27082	B	0.105852	0.02591	N	1.955520	0.999999	0.08975	N	1.245	0.31408	L	3.18	0.43279	T	-0.47	0.17417	N	0.202	0.25622	-1.0426	0.16532	T	0.039	0.16978	T	10	0.003387332	0.00059	T	.	.	.	0.056	0.15993	.	.	0.384419519794	0.38055	0.09363307789257894	0.09295	0.059884287588	0.06659	0.310973823071	0.12055	T	0.008776	0.13986	T	-0.568737	0.00225	T	-0.570131	0.15438	T	0.00487950187067834	0.00052	T	0.610839	0.34527	T	.	.	.	.	.	.	.	.	-5.794	0.44618	T	.	.	0.075	0.07365	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.174959	0.15650	12.00	0.71201995381238015	0.09549	0.57662	0.30436	D	AEFDGBCI	0.268693	0.38513	N	-0.731747303158996	0.15133	0.7600287	-0.685546229133014	0.17323	0.9205509	0.999997270087265	0.74766	0.676563	0.55306	0	0.52208	0.09955	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	4.37	2.53	0.29594	1.487000	0.35149	0.790000	0.21560	-0.106000	0.15538	0.985000	0.35982	0.253000	0.23932	0.000000	0.00833	0.2032:0.0:0.7968:0.0	7.445	0.26376	323	0.86843	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.003049	0.003788	0.02632	1288.33	34	chr12	57476957	.	G	T	1288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.37;DP=826;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.328;SOR=0.819	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1302,0,1271	18	0	1	0
chr12	57532266	57532266	G	A	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001261412:exon12:c.C980T:p.T327I,DCTN2:NM_001261413:exon12:c.C974T:p.T325I,DCTN2:NM_001348065:exon12:c.C1109T:p.T370I,DCTN2:NM_001348068:exon13:c.C713T:p.T238I,DCTN2:NM_001348066:exon14:c.C905T:p.T302I,DCTN2:NM_001348067:exon14:c.C713T:p.T238I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.00334685997025	.	.	.	.	.	.	.	.	.	.	.	.	.	rs941848876	1.417e-06	2.052e-06	1.401e-06	1.434e-06	1.843e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.843e-06	0	0	6.57e-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	0.568	0.58626	T	0.675	0.69154	T	0.991	0.64070	D	0.898	0.63708	P	0.000011	0.62929	D	0.111757	0.999987	0.54805	D	0.49	0.13296	N	.	.	.	-0.5	0.26422	N	0.453	0.49692	-0.9115	0.46670	T	0.165	0.50275	T	9	0.42922854	0.57379	T	0.003347	0.07482	T	0.176	0.44373	0.493	0.58048	0.325139982731	0.32122	0.26569115045507896	0.26482	0.515258437671	0.49436	0.506906151772	0.39789	T	0.090236	0.38542	T	0.038715	0.56876	T	-0.182165	0.56323	T	0.815667748451233	0.47453	D	0.846715	0.53799	T	0.15591918	0.35214	0.13881476	0.33140	0.15591918	0.35213	0.13881476	0.33140	-4.349	0.28858	T	.	.	0.154	0.38959	B	.;.;.;.	.;.;.;.	4.783989	0.77568	26.7	0.99769650846449165	0.85750	0.96138	0.67706	D	AEFDBCI	0.844699	0.76165	D	0.467475128512723	0.65200	4.792863	0.546001955580347	0.71119	5.606582	0.999999999999992	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.1	5.1	0.68917	7.057000	0.76374	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.820	0.88559	413	0.81939	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	837.33	33	chr12	57532266	.	G	A	837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.323;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-1.626;SOR=0.617	GT:AD:DP:GQ:PL	0/1:35,29:64:99:851,0,1081	18	0	1	0
chr12	69610268	69610268	A	T	exonic	LRRC10	.	nonsynonymous SNV	LRRC10:NM_201550:exon1:c.T571A:p.F191I	.	434	1083	5	0	0	5	0.00230309	.	.	.	527649	not_provided|Dilated_Cardiomyopathy,_Dominant	MedGen:C3661900|MedGen:CN239310	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.00426263446825	0.0006	.	0.0007	0	0	0	0.0032	0.0009	0.0011	0	0.0005821	90	154602	rs150202472	0.0009	0.0009	0.0010	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	2.987e-05	0.0003	0	0	0.0035	0.0005	0.0010	0.0005	0	0.0005	0.0005	0.0005	0.0006	0.0006	0.0004	0.0004	0.0005	0.0004	0.0001	0	0.0005	0	0	0.0024	0	0.0006	0	0.0002	0.39	0.10838	T	0.398	0.15109	T	0.003	0.11197	B	0.001	0.04355	B	0.003651	0.34662	N	0.358910	0.999999	0.08975	N	2.32	0.66415	M	1.85	0.24472	T	-1.37	0.33998	N	0.348	0.38950	-1.0730	0.08766	T	0.052	0.22076	T	10	0.012825191	0.00274	T	0.004263	0.10310	T	0.102	0.29158	.	.	0.313210971179	0.30940	0.42757741366366997	0.42674	0.299086279298	0.32277	0.369567960501	0.20770	T	0.148802	0.48752	T	-0.461212	0.00966	T	-0.509389	0.21379	T	0.0261265743501456	0.01423	T	0.770723	0.40088	T	0.121757545	0.28625	0.10637978	0.25591	0.121757545	0.28625	0.10637978	0.25591	-4.883	0.35543	T	.	.	0.265	0.49941	B	.	.	2.918170	0.38732	20.8	0.93262306007286999	0.22957	0.76186	0.37346	D	AEFBI	0.290697	0.40201	N	-0.0619835646805361	0.39068	2.298087	0.109178202225737	0.45017	2.772467	0.722277351917624	0.22946	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	4.41	0.52588	3.697000	0.54497	7.768000	0.68418	0.756000	0.94297	0.977000	0.34929	1.000000	0.68203	0.997000	0.79791	0.7475:0.1289:0.0:0.1236	8.964	0.35024	804	0.43891	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1721.33	36	chr12	69610268	.	A	T	1721.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.894;DP=764;ExcessHet=0;FS=1.409;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.563;SOR=0.882	GT:AD:DP:GQ:PL	0/1:62,66:128:99:1735,0,1685	18	0	1	0
chr12	70329447	70329447	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G263A:p.G88E,CNOT2:NM_014515:exon5:c.G263A:p.G88E,CNOT2:NM_001199302:exon6:c.G263A:p.G88E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0249699400883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.056	0.60337	T	0.18	0.29046	B	0.016	0.17743	B	0.000092	0.51296	D	0.205934	1	0.81001	D	1.955	0.52871	M	0.61	0.53516	T	-2.61	0.87063	D	0.894	0.89465	-1.0689	0.09657	T	0.091	0.34928	T	10	0.44669622	0.58441	T	0.02497	0.47953	T	0.243	0.54921	0.295	0.25881	0.630911567125	0.62789	0.5893526410213833	0.58865	1.45052255294	0.86148	0.870351672173	0.92618	D	0.084226	0.37982	T	0.199477	0.73844	D	0.0487582	0.73503	D	0.943937063217163	0.61959	D	0.970003	0.92760	D	0.19678634	0.41519	0.35423598	0.60971	0.19678634	0.41519	0.35423598	0.60971	-8.645	0.65385	D	.	.	0.823	0.78641	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.601265	0.72877	25.9	0.99396539979002119	0.62610	0.98182	0.80315	D	AEFBI	0.939378	0.93989	D	0.0518739367113106	0.44228	2.700752	0.259013200612053	0.53164	3.486706	0.999999998541904	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.754000	0.84040	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.588	0.87887	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	88.22	34	chr12	70329447	.	G	A	88.22	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.759;DP=865;ExcessHet=0.119;FS=143.341;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=1.14;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,8:81:99:0|1:70329447_G_A:100,0,3013:70329447	17	0	2	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	1087.65	68	chr12	70329450	.	T	C	1087.65	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.25;DP=1266;ExcessHet=1.3;FS=238.943;InbreedingCoeff=-0.3919;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.577;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,9:83:99:0|1:70329447_G_A:104,0,3045:70329447	3	0	5	11
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	1175.06	68	chr12	70329451	.	G	A	1175.06	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.043;DP=1317;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4337;MLEAC=10;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.613;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,9:82:99:0|1:70329447_G_A:107,0,3010:70329447	2	0	6	11
chr12	70329453	70329453	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G269A:p.S90N,CNOT2:NM_014515:exon5:c.G269A:p.S90N,CNOT2:NM_001199302:exon6:c.G269A:p.S90N	.	.	.	.	.	.	.	.	.	.	.	3516871	CNOT2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00989993321446	.	.	8.269e-06	0	8.78e-05	0	0	0	0	0	6.5e-06	1	154602	rs771989980	6.355e-06	8.692e-06	4.804e-06	7.882e-06	9.024e-05	2.73e-06	1.98e-06	3.003e-05	1.817e-05	0	9.024e-05	0	0	0	0	4.315e-06	0	0	6.641e-06	6.589e-06	0	1.362e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.036	0.68238	D	0.506	0.19721	T	0.18	0.29046	B	0.035	0.22741	B	0.000025	0.55875	D	0.192355	0.947562	0.37573	D	1.525	0.38595	L	0.86	0.46777	T	-0.94	0.49519	N	0.201	0.22357	-1.0377	0.18016	T	0.088	0.33996	T	10	0.12842554	0.24431	T	0.010	0.25788	T	0.085	0.24743	0.133	0.03747	0.50001199887	0.49638	0.3289345986857531	0.32806	0.991300443966	0.74079	0.801624059677	0.82210	T	0.048625	0.28073	T	-0.329497	0.06150	T	-0.513433	0.20962	T	0.161027878522873	0.17947	T	0.89941	0.68582	D	0.13152388	0.30653	0.14989017	0.35372	0.13152388	0.30653	0.14989017	0.35371	-3.621	0.18161	T	.	.	0.146	0.36436	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.355962	0.46308	22.3	0.98825779678181824	0.46869	0.91311	0.53278	D	AEFBI	0.486740	0.52578	N	-0.0885869228343376	0.37891	2.211183	0.12188551889719	0.45670	2.826103	0.999964577184135	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	3.248000	0.51131	9.888000	0.82251	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.588	0.87887	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1172.09	65	chr12	70329453	.	G	A	1172.09	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.752;DP=1246;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4613;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.911;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,9:80:99:0|1:70329447_G_A:113,0,2937:70329447	5	0	2	12
chr12	80310704	80310704	A	G	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon30:c.A3400G:p.I1134V,OTOGL:NM_173591:exon30:c.A3400G:p.I1134V,OTOGL:NM_001378610:exon33:c.A3400G:p.I1134V,OTOGL:NM_001368062:exon34:c.A3265G:p.I1089V	Deafness, autosomal recessive 84B, Autosomal recessive	12	1503	6	1	0	8	0.00265428	.	.	.	230386	not_provided|not_specified|Inborn_genetic_diseases|OTOGL-related_disorder	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0232263080475	0.0030	0.00219649	0.0025	0.0002	0.0024	0	0.0003	0.0039	0.0034	0.0003	0.0026132	404	154602	rs117462138	0.0037	0.0037	0.0038	0.0036	0.0043	0.0036	0.0036	0.0042	0.0042	0.0007	0.0020	0.0074	0	0.0006	0.0024	0.0043	0.0029	0.0003	0.0024	0.0024	0.0026	0.0021	0.0039	0.0022	0.0021	0.0035	0.0034	0.0007	0	0.0023	0.0040	0	0.0007	0.0034	0.0039	0.0038	0.0008	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999437	0.21199	N	.	.	.	-0.92	0.75108	T	0.41	0.03407	N	0.137	0.13484	-0.9837	0.34140	T	0.066	0.27121	T	7	0.015127599	0.00318	T	0.023226	0.46179	T	0.099	0.28413	.	.	0.112648838833	0.10856	0.18592276383119322	0.18510	0.0211005451595	0.02089	0.312833666801	0.12336	T	.	.	.	-0.560979	0.00250	T	-0.574439	0.15044	T	0.00659066536948768	0.00074	T	0.464953	0.14626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.02960	B	.;.;.	.;.;.	0.454422	0.08244	4.985	0.43489571834481894	0.03278	0.22786	0.21862	N	AEFBI	0.097106	0.19593	N	-0.657167132112421	0.17252	0.8861476	-0.491519744108896	0.22386	1.215648	1.76905571507329E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	0.396	0.15532	1.010000	0.29500	1.237000	0.25081	-0.156000	0.11795	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.3345:0.1006:0.5649:0.0	8.403	0.31758	575	0.70088	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	1	0	0	1	0	1	0	0.001554	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2240.33	35	chr12	80310704	.	A	G	2240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.153;DP=780;ExcessHet=0;FS=3.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.071;SOR=0.452	GT:AD:DP:GQ:PL	0/1:70,90:160:99:2254,0,1661	18	0	1	0
chr12	88086456	88086456	C	G	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon33:c.G4237C:p.D1413H	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	102066	Meckel-Gruber_syndrome|Nephronophthisis|Joubert_syndrome|Bardet-Biedl_syndrome_14|Joubert_syndrome_5|not_specified|CEP290-related_disorder|Leber_congenital_amaurosis|Senior-Loken_syndrome_6|Leber_congenital_amaurosis_10|not_provided|Meckel_syndrome,_type_4	MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MedGen:CN169374|MedGen:CN239314|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0279965875024	0.0021	0.00179712	0.0035	0.0003	0.0098	0	0.0012	0.0049	0.0065	0.0017	0.0020181	312	154602	rs183655276	0.0026	0.0026	0.0027	0.0026	0.0071	0.0025	0.0025	0.0054	0.0048	0.0004	0.0043	7.741e-05	5.07e-05	0.0006	0.0071	0.0030	0.0029	0.0009	0.0019	0.0019	0.0017	0.0020	0.0044	0.0017	0.0016	0.0036	0.0033	0.0003	0	0.0044	0.0003	0	0.0003	0	0.0027	0.0033	0.0017	0.006	0.72154	D	0.018	0.65728	D	0.098	0.25584	B	0.054	0.25828	B	0.000171	0.48594	D	0.210366	0.945189	0.38661	D	0	0.06538	N	-0.13	0.64818	T	-1.25	0.39119	N	0.338	0.41557	-0.9242	0.44971	T	0.110	0.39699	T	10	0.008776516	0.00199	T	0.027997	0.50737	D	0.130	0.35528	.	.	0.757372437326	0.75516	0.3942687378265777	0.39341	0.0667548177527	0.07447	0.449792325497	0.31915	T	0.256115	0.62699	T	-0.370953	0.03546	T	-0.303291	0.44376	T	0.0264465531716306	0.01466	T	0.928607	0.73726	D	0.15015034	0.34196	0.19005534	0.42388	0.1661555	0.36933	0.17049831	0.39162	-10.915	0.79190	D	0.12590102706994324	0.12611	0.19	0.42259	B	.;.;.	.;.;.	4.047557	0.59975	24.2	0.99057688343672168	0.51413	0.94523	0.61441	D	AEFBHCI	0.656198	0.62827	D	0.0363868836368051	0.43516	2.643088	0.280627705852176	0.54409	3.605986	0.999846063556594	0.43971	0.732398	0.92422	0	0.709663	0.81188	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	5.554000	0.66999	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.575	0.99368	876	0.30350	Centrosomal protein of 290kDa, coiled-coil region;.;Centrosomal protein of 290kDa, coiled-coil region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.005051	0.004076	0.005848	0.000000	0.000000	0.015244	0.015152	0.02632	2942.33	33	chr12	88086456	.	C	G	2942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.323;DP=911;ExcessHet=0;FS=0.977;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.174;SOR=0.628	GT:AD:DP:GQ:PL	0/1:121,123:244:99:2956,0,2929	18	0	1	0
chr12	101209577	101209577	G	A	exonic	SLC5A8	.	nonsynonymous SNV	SLC5A8:NM_145913:exon1:c.C272T:p.T91I	.	.	.	.	.	.	.	.	.	.	.	3480962	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.628	0.112449576952	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001035	16	154602	rs755904407	7.456e-05	7.456e-05	4.356e-05	0.0001	0.0012	6.315e-05	5.873e-05	0.0010	0.0009	0	0	0	0	0	0	0	0.0001	0.0012	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.024	0.47745	D	0.023	0.57104	D	0.374	0.34192	B	0.367	0.43430	B	0.000218	0.47681	D	0.248762	0.998566	0.45092	D	2.085	0.57729	M	-2.21	0.86963	D	-2.57	0.55501	D	0.486	0.52029	0.182	0.85614	D	0.602	0.85855	D	10	0.18892643	0.34469	T	0.11245	0.79059	D	0.628	0.85666	0.611	0.74418	0.518312163451	0.51475	0.8082219024832838	0.80777	0.23568411113	0.26102	0.466487586498	0.34199	T	0.32993	0.70018	T	-0.186555	0.22765	T	-0.0970982	0.63622	T	0.939805686473846	0.61158	D	.	.	.	0.37236264	0.58759	0.34509358	0.60198	0.37236264	0.58760	0.34509358	0.60197	-8.126	0.61926	D	.	.	0.727	0.74067	P	.	.	3.616874	0.51161	23.1	0.99825916319549124	0.90852	0.95237	0.63947	D	AEFBCI	0.924444	0.90249	D	0.218367195526008	0.52090	3.385439	0.316783476353611	0.56527	3.816012	0.999999734198407	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	5.49	4.58	0.56077	8.002000	0.88029	8.465000	0.77256	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.306000	0.24642	0.0:0.1336:0.8664:0.0	16.186	0.81764	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1440.33	33	chr12	101209577	.	G	A	1440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.536;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-1.514;SOR=0.718	GT:AD:DP:GQ:PL	0/1:84,64:148:99:1454,0,2097	18	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCTGTTAA:p.E331Gfs*8	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCTGTTAA	2004.32	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=3;MLEAF=0.079;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:95,18:113:99:.:.:466,0,3939:.	16	0	3	0
chr12	109768455	109768455	G	A	exonic	FAM222A	.	nonsynonymous SNV	FAM222A:NM_032829:exon3:c.G526A:p.A176T	.	.	.	.	.	.	.	.	.	.	.	3665524	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.046802724621	.	.	4.8e-05	0	9.154e-05	0	0.0004	1.776e-05	0	6.434e-05	3.23e-05	5	154602	rs772790721	2.346e-05	3.078e-05	1.511e-05	3.189e-05	0.0001	1.689e-05	1.49e-05	6.255e-05	4.763e-05	0	4.485e-05	0	0	0.0003	0	4.501e-06	9.976e-05	0.0001	2.627e-05	2.625e-05	2.571e-05	2.686e-05	2.405e-05	8.14e-06	5.14e-06	.	.	2.405e-05	0	0	0	0	9.416e-05	0	1.472e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.078	0.24389	B	0.007	0.12992	B	0.000001	0.62929	D	0.055638	0.686838	0.30228	N	0.77	0.19370	N	2.14	0.19450	T	1.44	0.00794	N	0.165	0.17416	-1.0013	0.29545	T	0.019	0.08173	T	10	0.033401847	0.01515	T	0.046803	0.62629	D	0.087	0.25287	.	.	0.0138822411134	0.00435	0.16168217647784475	0.16089	0.673678565086	0.59604	0.760765075684	0.76042	T	0.012188	0.10755	T	-0.382691	0.02996	T	-0.605339	0.12367	T	0.0866657271981239	0.10817	T	0.751425	0.37327	T	0.074088395	0.16602	0.100861475	0.24128	0.074088395	0.16602	0.100861475	0.24127	-4.598	0.32147	T	0.0547179020791725	0.01176	0.077	0.06433	B	.;.	.;.	2.414932	0.31045	18.62	0.99270174114218901	0.57525	0.59604	0.30961	D	AEFDBI	0.117890	0.23076	N	-0.613379334948914	0.18541	0.9634563	-0.466958771114331	0.23070	1.25622	0.919360472002967	0.26599	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.96	2.96	0.33383	1.565000	0.35993	5.400000	0.48508	0.526000	0.24426	0.482000	0.26816	1.000000	0.68203	0.405000	0.26894	0.2628:0.0:0.7372:0.0	4.616	0.11815	741	0.52966	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	930.33	34	chr12	109768455	.	G	A	930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.445;DP=696;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.325;SOR=0.573	GT:AD:DP:GQ:PL	0/1:45,38:83:99:944,0,1099	18	0	1	0
chr12	110893088	110893088	C	G	exonic	CCDC63	.	nonsynonymous SNV	CCDC63:NM_001286244:exon7:c.C850G:p.L284V,CCDC63:NM_001286243:exon8:c.C967G:p.L323V,CCDC63:NM_152591:exon9:c.C1087G:p.L363V	.	423	1098	1	0	0	1	0.000455166	.	.	.	3943333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00447020543154	7.7e-05	0.000199681	9.946e-05	0.0002	8.705e-05	0	0	0.0001	0	0	0.0001229	19	154602	rs201067506	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	5.974e-05	4.472e-05	0	0	0	0	0.0003	0.0003	0	0.0001	0.0001	8.995e-05	0.0001	0.0002	7.572e-05	6.278e-05	0.0001	0.0001	7.217e-05	0	0	0	0	0	0	0.0002	0	0	0.507	0.07594	T	0.497	0.11299	T	0.435	0.35719	B	0.086	0.29521	B	0.551298	0.05371	N	1.231310	1	0.08975	N	1.995	0.54099	M	2.0	0.21473	T	-0.55	0.17417	N	0.215	0.24010	-1.0180	0.24366	T	0.033	0.14073	T	10	0.03448084	0.01658	T	0.00447	0.10969	T	0.025	0.05312	.	.	0.0482279557977	0.04254	0.4035438187293395	0.40270	0.0611966656962	0.06815	0.215269953012	0.01055	T	0.004897	0.14257	T	-0.505941	0.00529	T	-0.695226	0.06090	T	0.0113412470815832	0.00168	T	0.567543	0.20130	T	0.046836838	0.07908	0.03297778	0.02118	0.046836838	0.07907	0.03297778	0.02117	-3.972	0.23383	T	.	.	0.060	0.02065	B	.;.;.	.;.;.	-0.343195	0.02434	0.276	0.3847471409760318	0.02597	0.04165	0.09659	N	AEFDBHCIJ	0.057606	0.10746	N	-0.859783412590427	0.11809	0.5720133	-0.941205213778738	0.11127	0.5650021	0.99952547296387	0.40175	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.631631	0.49550	0	.	.	5.47	0.203	0.14472	-0.380000	0.07484	-1.270000	0.05855	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.1709:0.4:0.1549:0.2742	0.863	0.01122	150	0.94078	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2281.33	33	chr12	110893088	.	C	G	2281.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.762;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.885;SOR=0.67	GT:AD:DP:GQ:PL	0/1:96,99:195:99:2295,0,2411	18	0	1	0
chr12	117531702	117531702	G	A	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon11:c.C1693T:p.H565Y	.	432	1087	3	0	0	3	0.00137804	.	.	.	1563929	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.315	.	8.1e-05	0.00559105	0.0042	0.0002	0	0.0311	0	4.51e-05	0.0011	0.0139	0.0035575	550	154602	rs11068531	0.0018	0.0019	0.0015	0.0021	0.0377	0.0017	0.0017	0.0361	0.0354	0.0001	2.388e-05	0.0008	0.0377	0	0.0003	5.244e-05	0.0018	0.0116	0.0014	0.0014	0.0011	0.0017	0.0265	0.0012	0.0012	0.0229	0.0215	0.0002	0	0.0001	0.0006	0.0265	0	0	1.47e-05	0.0009	0.0127	0.721	0.04020	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000619	0.42945	D	0.267280	0.998704	0.45307	D	-0.39	0.03026	N	-1.14	0.77843	T	-0.29	0.11728	N	0.217	0.25377	-0.6654	0.62036	T	0.173	0.51516	T	10	0.008645475	0.00196	T	.	.	.	0.315	0.63694	.	.	0.459974577466	0.45620	0.42253121087907314	0.42170	0.792363411947	0.65867	0.603496551514	0.53398	T	0.230716	0.59686	T	-0.363216	0.03952	T	-0.273562	0.47458	T	0.0134186275219366	0.00244	T	0.817618	0.47476	T	0.14324854	0.32931	0.11561101	0.27908	0.14324854	0.32930	0.11561101	0.27907	-4.57	0.31792	T	.	.	0.093	0.13969	B	.;.	.;.	2.685503	0.35042	19.79	0.86897403343138058	0.16848	0.93637	0.58764	D	AEFBI	0.719377	0.67028	D	-0.380042723952373	0.26182	1.426921	-0.129268241615326	0.34216	1.965706	0.980739351567847	0.30170	0.57788	0.32782	0	0.573888	0.26702	0	0.547309	0.15389	0	0.421255	0.06892	1	.	.	4.66	4.66	0.57857	3.460000	0.52793	9.836000	0.81892	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.736	0.88302	922	0.19044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	638.33	34	chr12	117531702	.	G	A	638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.686;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.748;SOR=0.616	GT:AD:DP:GQ:PL	0/1:48,26:74:99:652,0,1325	18	0	1	0
chr12	121274159	121274159	C	T	exonic	CAMKK2	.	nonsynonymous SNV	CAMKK2:NM_001270486:exon1:c.G368A:p.C123Y,CAMKK2:NM_001270485:exon2:c.G368A:p.C123Y,CAMKK2:NM_006549:exon2:c.G368A:p.C123Y,CAMKK2:NM_153499:exon2:c.G368A:p.C123Y,CAMKK2:NM_153500:exon2:c.G368A:p.C123Y,CAMKK2:NM_172214:exon2:c.G368A:p.C123Y,CAMKK2:NM_172215:exon2:c.G368A:p.C123Y,CAMKK2:NM_172216:exon2:c.G368A:p.C123Y,CAMKK2:NM_172226:exon2:c.G368A:p.C123Y	.	403	1085	33	1	0	35	0.015873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0081	0.00858626	0.0148	0.0021	0.0093	0.0012	0.0228	0.0154	0.0241	0.0316	0.0094436	1460	154602	rs35403710	0.0097	0.0097	0.0096	0.0099	0.0161	0.0096	0.0095	0.0154	0.0151	0.0019	0.0041	0.0096	0.0004	0.0123	0.0146	0.0099	0.0092	0.0161	0.0083	0.0083	0.0079	0.0087	0.0156	0.0079	0.0078	0.0127	0.0117	0.0019	0.0593	0.0068	0.0107	0.0014	0.0145	0.0308	0.0107	0.0095	0.0156	1.0	0.14064	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.073513	0.21342	N	0.513997	0.915977	0.27403	N	0	0.06538	N	-0.6	0.71662	T	2.64	0.10656	N	0.088	0.11769	-0.9951	0.31272	T	0.061	0.25383	T	10	0.0040839314	0.00080	T	.	.	.	0.082	0.23913	.	.	0.176862962021	0.17281	0.43557359236685883	0.43474	0.621552758047	0.56441	0.368951529264	0.20682	T	0.093184	0.39159	T	-0.503794	0.00544	T	-0.482162	0.24216	T	0.000768810310415796	0.00007	T	0.79742	0.44372	T	0.021128068	0.00700	0.048166234	0.07098	0.021128068	0.00700	0.048166234	0.07097	-5.457	0.42370	T	.	.	0.073	0.05491	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.374368	0.02310	0.245	0.37119601189109436	0.02427	0.20043	0.20893	N	AEFDBI	0.080568	0.16291	N	-1.29796890440581	0.03700	0.165763	-1.19460728582447	0.05999	0.2874759	0.340445358134234	0.19578	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.93	-0.258	0.12334	1.178000	0.31590	-0.630000	0.08130	-0.181000	0.10308	0.997000	0.40164	0.000000	0.08366	0.108000	0.18652	0.0:0.2583:0.1488:0.5929	4.887	0.13063	541	0.72942	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013636	0.005102	0.016304	0.014620	0.000000	0.034483	0.012270	0.011364	0.05263	2389.83	78	chr12	121274159	.	C	T	2389.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.058;DP=790;ExcessHet=0.119;FS=6.536;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.78;SOR=1.176	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1308,0,1438	17	0	2	0
chr12	122859081	122859081	G	C	exonic	HIP1R	.	nonsynonymous SNV	HIP1R:NM_003959:exon22:c.G2179C:p.E727Q	.	405	1114	2	1	0	4	0.00179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.00339457	0.0032	0	0	0	0	0	0	0.0175	0.0016947	262	154602	rs376345720	0.0009	0.0009	0.0005	0.0013	0.0138	0.0008	0.0008	0.0132	0.0129	6.009e-05	4.584e-05	0	5.088e-05	1.94e-05	0.0005	6.314e-06	0.0014	0.0138	0.0006	0.0006	0.0003	0.0009	0.0181	0.0005	0.0005	0.0150	0.0139	4.817e-05	0	0	0	0	0	0	1.471e-05	0	0.0181	1.0	0.00964	T	0.727	0.05221	T	0.012	0.16265	B	0.007	0.12992	B	0.000055	0.53742	D	0.197970	0.998104	0.44513	D	0.765	0.19305	N	2.61	0.13095	T	-0.04	0.07590	N	0.174	0.18649	-1.0729	0.08787	T	0.027	0.11441	T	10	0.010240227	0.00229	T	.	.	.	0.057	0.16321	0.264	0.20946	0.149567049428	0.14543	0.2415942776173896	0.24073	0.0926343724949	0.10456	0.445106774569	0.31276	T	0.062023	0.31806	T	-0.606425	0.00133	T	-0.632187	0.10250	T	0.034111445258388	0.02657	T	0.729427	0.34485	T	0.13527437	0.31401	0.08169845	0.18589	0.13527437	0.31401	0.08169845	0.18588	-3.4	0.15057	T	.	.	0.098	0.16054	B	.	.	2.720462	0.35583	19.94	0.85292725646982259	0.15803	0.96550	0.69701	D	AEFDBI	0.629981	0.61150	D	-0.224162301642529	0.32144	1.810	-0.0191525478594633	0.38851	2.294883	0.999999435049272	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.15	5.15	0.70287	3.137000	0.50257	8.234000	0.76841	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	15.537	0.75745	314	0.87270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002028	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.003788	0.02632	895.33	36	chr12	122859081	.	G	C	895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.083;DP=790;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.417;SOR=0.578	GT:AD:DP:GQ:PL	0/1:44,37:81:99:909,0,1264	18	0	1	0
chr12	122980676	122980676	G	T	exonic	ARL6IP4	.	stopgain	ARL6IP4:NM_001002251:exon1:c.G472T:p.E158X,ARL6IP4:NM_001002252:exon1:c.G472T:p.E158X,ARL6IP4:NM_001278378:exon1:c.G472T:p.E158X,ARL6IP4:NM_016638:exon1:c.G472T:p.E158X,ARL6IP4:NM_018694:exon1:c.G472T:p.E158X	.	432	1077	13	0	0	13	0.00599908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0	0	0	.	0.0167	0	0.0032	0.0002587	40	154602	rs747921915	0.0010	0.0009	0.0010	0.0010	0.0146	0.0010	0.0009	0.0114	0.0103	0.0003	0.0019	0.0089	0	0.0001	0.0146	0.0008	0.0018	0.0011	0.0009	0.0009	0.0009	0.0010	0.0026	0.0008	0.0008	0.0020	0.0018	7.22e-05	0	0.0026	0.0078	0	0	0.0103	0.0009	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.07	0.06854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194651	0.73392	D	0.503462	0.94693	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.	High;.;.;.;.	3.244782	0.44309	21.9	0.9933424560588221	0.59895	0.70631	0.34670	D	ALL	0.172785	0.29983	N	0.743790450399125	0.82500	7.777896	0.520651220342829	0.69381	5.35228	1.0	0.98316	0.266657	0.04791	1	0.218748	0.04544	0	0.289072	0.05449	1	0.372554	0.06265	0	.	.	3.63	3.63	0.40741	2.273000	0.43041	2.368000	0.32412	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.806000	0.37994	0.0:0.0:1.0:0.0	11.154	0.47703	240	0.90628	.;.;.;.;.	.	.	.	.	.	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	0.014416	0.000000	0.010363	0.047244	0.000000	0.058824	0.000000	0.000000	0.02632	502.33	39	chr12	122980676	.	G	T	502.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.631;DP=672;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.774;SOR=0.864	GT:AD:DP:GQ:PL	0/1:24,21:45:99:516,0,659	18	0	1	0
chr12	123466018	123466018	C	T	exonic	SNRNP35	.	nonsynonymous SNV	SNRNP35:NM_022717:exon2:c.C478T:p.R160W,SNRNP35:NM_180699:exon2:c.C493T:p.R165W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0603225758561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1249472789	4.788e-06	5.472e-06	4.084e-06	5.5e-06	4.472e-05	1.99e-06	1.28e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	2.455	0.71248	M	1.44	0.33412	T	-6.83	0.93020	D	0.776	0.89465	-0.8901	0.48925	T	0.162	0.49797	T	10	0.7833727	0.78040	D	0.060323	0.67963	D	0.325	0.64725	0.429	0.47680	0.865004620108	0.86369	0.6972634448193135	0.69667	1.1632284106	0.79547	0.830211937428	0.86595	D	0.34831	0.71631	T	0.183602	0.72374	D	0.10882	0.77494	D	0.991977512836456	0.82352	D	0.973153	0.91743	D	0.5545623	0.70209	0.40638638	0.65013	0.5545623	0.70210	0.40638638	0.65013	-13.585	0.91630	D	.	.	0.930	0.85648	P	.;.;.	.;.;.	5.444026	0.90971	32	0.99919620797664577	0.98654	0.91690	0.54057	D	AEFDBI	0.648996	0.62362	D	0.559107261833453	0.70640	5.531094	0.500282670483798	0.68012	5.161419	0.00364200667853346	0.10216	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.76	3.95	0.44952	4.113000	0.57593	2.673000	0.33962	0.596000	0.33519	1.000000	0.71638	0.992000	0.31684	0.984000	0.60418	0.2319:0.6267:0.0:0.1414	6.722	0.22523	263	0.89692	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1593.33	37	chr12	123466018	.	C	T	1593.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=0.685;SOR=0.757	GT:AD:DP:GQ:PL	0/1:49,57:106:99:1607,0,1097	18	0	1	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del,NCOR2:NM_001206654:exon16:c.1520_1528del:p.Q507_Q509del,NCOR2:NM_006312:exon16:c.1523_1531del:p.Q508_Q510del	.	0	15	9	3	199	214	0.333333	.	.	.	3196719	NCOR2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	26976.9	58	chr12	124402512	.	GGCTGCTGCT	G	26976.9	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=1396;ExcessHet=2.8258;FS=0;InbreedingCoeff=-0.1515;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.81;ReadPosRankSum=0.377;SOR=0.763	GT:AD:DP:GQ:PL	0/1:1,30:59:99:2228,1049,1083	18	0	1	0
chr12	124430757	124430757	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon11:c.C913T:p.L305F,NCOR2:NM_001206654:exon11:c.C913T:p.L305F,NCOR2:NM_006312:exon11:c.C913T:p.L305F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0244630492453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.032	0.57587	D	0.998	0.73220	D	0.996	0.84481	D	0.002978	0.35639	N	0.187977	0.999996	0.81001	D	1.975	0.53506	M	0.62	0.53302	T	-3.42	0.72820	D	0.682	0.70263	-0.6498	0.62723	T	0.234	0.60026	T	10	0.60138535	0.66932	D	0.024463	0.47448	T	0.364	0.68407	0.364	0.37036	0.655744367491	0.65287	0.9560031147876591	0.95585	1.04679910713	0.75980	0.89358997345	0.95700	D	0.850955	0.96608	D	0.11494	0.65860	D	-0.0726728	0.65435	T	0.904618203639984	0.55813	D	0.991087	0.97264	D	0.2484968	0.47836	0.31409073	0.57402	0.2484968	0.47836	0.31409073	0.57401	-9.934	0.73516	D	.	.	0.988	0.92981	P	.;.;.;.;.;.	.;.;.;.;.;.	4.735021	0.76299	26.5	0.98097851791454838	0.38245	0.98799	0.87003	D	AEFBI	0.907928	0.86258	D	0.660444076156538	0.77046	6.599967	0.601750265313068	0.75068	6.245378	0.999999731709585	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	8.178000	0.89637	8.176000	0.76768	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0952:0.0:0.9048:0.0	9.914	0.40594	474	0.77851	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	72.57	45	chr12	124430757	.	G	A	72.57	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.588;DP=1776;ExcessHet=0.119;FS=186.628;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=59.99;MQRankSum=0;QD=0.23;ReadPosRankSum=0.497;SOR=9.994	GT:AD:DP:GQ:PL	0/1:125,41:173:23:23,0,2127	16	0	2	1
chr12	128697264	128697264	C	T	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon8:c.C1970T:p.T657I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0438756547655	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs537528291	9.367e-06	1.026e-05	1.133e-05	7.333e-06	0.0002	5.23e-06	4.03e-06	4.22e-06	2.87e-06	3.182e-05	0	0	0	0	0.0002	8.414e-06	0	2.545e-05	6.566e-06	1.312e-05	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.038	0.42783	D	0.151	0.32355	T	1.0	0.90584	D	0.999	0.92359	D	0.000008	0.62929	D	0.000000	0.999921	0.51308	D	2.955	0.85029	M	0.56	0.54540	T	-4.05	0.74504	D	0.545	0.57177	-0.1980	0.77722	T	0.369	0.72902	T	10	0.4268121	0.57228	T	0.043876	0.61206	D	0.293	0.61272	0.326	0.30873	0.206203607746	0.20212	0.55772389367847	0.55699	0.48832454763	0.47636	0.718519330025	0.69831	T	0.207055	0.56658	T	-0.150805	0.28186	T	-0.257426	0.49082	T	0.946012437343597	0.62382	D	0.948205	0.79983	D	0.37111798	0.58667	0.34775537	0.60425	0.37111798	0.58668	0.34775537	0.60425	-8.533	0.64647	D	.	.	0.446	0.62028	A	.	.	4.514952	0.70739	25.6	0.99892151916725425	0.96589	0.92222	0.55218	D	AEFBI	0.485933	0.52531	N	0.542501746823266	0.69625	5.383868	0.421841333118117	0.62929	4.516834	0.627581191398353	0.21940	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.05	4.05	0.46415	4.496000	0.60081	7.516000	0.59690	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	16.591	0.84616	994	0.00715	Transmembrane protein family 132, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1179.33	45	chr12	128697264	.	C	T	1179.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=883;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.462;SOR=0.932	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1193,0,1334	18	0	1	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R,ZNF84:NM_001289971:exon5:c.A416G:p.H139R,ZNF84:NM_001289972:exon5:c.A416G:p.H139R,ZNF84:NM_003428:exon5:c.A416G:p.H139R	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	5832.79	38	chr12	133057131	.	A	G	5832.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.038;DP=1301;ExcessHet=0.3672;FS=0.521;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.97;SOR=0.753	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1777,0,2258	16	0	3	0
chr12	133187891	133187891	G	A	exonic	ZNF268	.	nonsynonymous SNV	ZNF268:NM_001165881:exon3:c.G53A:p.R18Q,ZNF268:NM_001165883:exon3:c.G53A:p.R18Q,ZNF268:NM_001165885:exon3:c.G53A:p.R18Q,ZNF268:NM_003415:exon3:c.G53A:p.R18Q,ZNF268:NM_152943:exon3:c.G53A:p.R18Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00218990161521	.	0.000599042	4.462e-05	0.0002	0	0	0	4.272e-05	0	0	4.53e-05	7	154602	rs184707939	1.107e-05	1.505e-05	9.617e-06	1.255e-05	0.0002	6.56e-06	5.31e-06	7.778e-05	5.515e-05	0	0.0002	0	0	0	0	4.531e-06	6.684e-05	0	0.0001	0.0001	0.0001	0.0001	0.0009	7.093e-05	5.749e-05	0.0006	0.0004	0	0	0.0009	0	0	0	0	0	0.0014	0	0.423	0.22138	T	0.207	0.26969	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	5.72	0.07711	T	-1.84	0.63323	N	0.124	0.21580	-0.9197	0.45594	T	0.010	0.03856	T	8	0.009996086	0.00224	T	0.00219	0.04124	T	0.113	0.31778	0.551	0.66716	0.0482279557977	0.04254	0.047861188964124335	0.04729	0.0872939193085	0.09842	0.327221095562	0.14515	T	0.001197	0.29367	T	-0.237541	0.15665	T	-0.578988	0.14636	T	0.0135277824524129	0.00248	T	0.722728	0.37284	T	0.012054995	0.00026	0.038604524	0.03767	0.012054995	0.00026	0.038604524	0.03767	-3.667	0.20029	T	.	.	0.083	0.14385	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.488582	0.01904	0.158	0.7353986851479789	0.10365	0.00622	0.02746	N	AEFBI	0.027176	0.02175	N	-1.81743057353273	0.00504	0.02168705	-1.91439431327342	0.00458	0.02029354	0.374538334362401	0.19902	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.37	-6.73	0.01586	-1.340000	0.02756	-3.037000	0.03118	-1.386000	0.01155	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7465:0.0:0.2535:0.0	12.015	0.52605	693	0.58582	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1949.33	33	chr12	133187891	.	G	A	1949.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=752;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-3.136;SOR=0.786	GT:AD:DP:GQ:PL	0/1:64,75:139:99:1963,0,1479	18	0	1	0
chr13	20981585	20981585	C	T	exonic	LATS2	.	nonsynonymous SNV	LATS2:NM_014572:exon6:c.G2546A:p.R849Q	.	425	1095	1	1	0	3	0.00136799	.	.	.	2685651	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.0223479243451	.	.	8.295e-06	0	0	0	0	0	0	6.116e-05	1.94e-05	3	154602	rs753361598	3.626e-05	3.625e-05	3.131e-05	4.125e-05	0.0003	2.828e-05	2.565e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	1.709e-05	4.968e-05	0.0003	4.598e-05	4.597e-05	1.284e-05	8.068e-05	0.0006	2.109e-05	1.527e-05	0.0002	8.981e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0006	0.025	0.47320	D	0.092	0.39954	T	0.627	0.40110	P	0.09	0.29851	B	0.000006	0.62929	D	0.000000	1	0.81001	D	1.015	0.25427	L	0.18	0.60361	T	-2.64	0.56630	D	0.73	0.73105	-0.9954	0.31191	T	0.098	0.36754	T	10	0.5119808	0.62149	D	0.022348	0.45230	T	0.265	0.57870	0.51	0.60693	0.804973989201	0.80314	0.6328111338703467	0.63215	1.54673122755	0.87836	0.68630027771	0.65173	T	0.137327	0.47020	T	-0.0692549	0.41445	T	-0.0451075	0.67357	D	0.402923571421131	0.29052	T	0.969203	0.88895	D	0.25309956	0.48330	0.17655613	0.40198	0.25309956	0.48330	0.17655613	0.40197	-7.879	0.60242	D	.	.	0.080	0.07745	B	.	.	4.013814	0.59233	24.1	0.99941237615185041	0.99797	0.98673	0.85416	D	AEFDBI	0.815195	0.73723	D	0.127809769655341	0.47764	2.997538	0.309598959315645	0.56104	3.773278	0.999999999999977	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.69	5.69	0.88346	6.106000	0.71175	2.168000	0.31032	0.599000	0.40250	1.000000	0.71638	0.976000	0.30059	0.684000	0.33659	0.0:1.0:0.0:0.0	19.863	0.96791	921	0.19240	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1461.33	38	chr13	20981585	.	C	T	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=767;ExcessHet=0;FS=2.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.381;SOR=0.618	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1475,0,1299	18	0	1	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	exonic	SKA3	.	stoploss	SKA3:NM_001166017:exon8:c.1119_1120insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374Cfs*46,SKA3:NM_145061:exon9:c.1238_1239insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.*413delinsCATQ*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0005	0.0006	0.0020	0	0.0009	0.0013	0.0003	.	.	.	.	1.987e-05	2.326e-05	2.181e-05	1.791e-05	2.522e-05	1.394e-05	1.205e-05	3e-07	1.1e-07	0	0	0	2.522e-05	0.0005	0	1.801e-06	0	0	0.0012	0.0022	0.0009	0.0015	0.0037	0.0011	0.0010	0.0024	0.0020	0.0005	0	0.0017	0.0012	0.0019	0.0025	0	0.0011	0.0038	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1275.79	35	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	1275.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.6;DP=740;ExcessHet=0.119;FS=14.652;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-0.49;SOR=1.401	GT:AD:DP:GQ:PL	0/1:35,22:57:99:812,0,1405	17	0	2	0
chr13	21158126	21158126	-	AAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	splicing	SKA3	NM_145061:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT;NM_001166017:exon7:c.916-1->CTCTCCTTTGGTACCTACATTCTGTACTCCTGGTTTGAAAATTCCATCTACAAAGAACAGCATAGCTTT	.	.	.	441	1022	31	2	26	61	0.016835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0.0003	0.0004	0	0.0002	0	0.0004	.	.	.	.	0.0001	0.0001	9.436e-05	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	0	2.253e-05	3.894e-05	0.0003	0.0011	0.0007	9.754e-05	0.0002	8.265e-05	0.0002	0.0004	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	9.645e-05	0	0.0004	0	0.0002	0.0008	0	0.0003	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1009.29	37	chr13	21158126	.	C	CAAAGCTATGCTGTTCTTTGTAGATGGAATTTTCAAACCAGGAGTACAGAATGTAGGTACCAAAGGAGAG	1009.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3;DP=848;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.792;SOR=0.507	GT:AD:DP:GQ:PL	0/1:48,28:76:99:1023,0,1910	18	0	1	0
chr13	23338124	23338124	C	T	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.G5311A:p.V1771M,SACS:NM_014363:exon10:c.G5752A:p.V1918M	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0829109975958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.39820	T	0.0	0.92824	D	0.838	0.46404	P	0.219	0.37734	B	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	2.42	0.70002	M	-2.34	0.87989	D	-0.5	0.15782	N	0.809	0.90590	0.126	0.84637	D	0.562	0.84068	D	10	0.7742573	0.77330	D	0.082911	0.74003	D	0.574	0.82742	0.467	0.53891	0.803420170324	0.80158	0.6823076607190579	0.68169	.	.	0.657091259956	0.60993	T	0.327529	0.69804	T	0.37216	0.88201	D	0.296805	0.88051	D	0.916332125663757	0.57372	D	0.964704	0.86917	D	0.2101503	0.43303	0.21258768	0.45734	0.2101503	0.43303	0.21258768	0.45733	-6.904	0.53329	T	0.393106907722282	0.48601	0.649	0.70897	P	.;.	.;.	3.997654	0.58883	24.0	0.99913437101980751	0.98238	0.95187	0.63759	D	AEFDBCI	0.880140	0.80658	D	0.386028001090158	0.60663	4.257868	0.435662198964203	0.63802	4.621278	0.999999999999999	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	7.568000	0.81546	7.707000	0.66598	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	19.948	0.97190	986	0.02773	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3218.33	58	chr13	23338124	.	C	T	3218.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.403;DP=1363;ExcessHet=0;FS=4.866;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.193;SOR=0.452	GT:AD:DP:GQ:PL	0/1:88,118:206:99:3232,0,2317	18	0	1	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1961.21	262	chr13	25097021	.	G	*	1961.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.31;DP=4417;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.32;MQRankSum=-8.053;QD=0.46;ReadPosRankSum=-0.802;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,59:317:99:0|1:25097005_A_G:1701,0,10656:25097005	7	0	12	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	1939.17	262	chr13	25097025	.	TTAAGC	*	1939.17	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.93;DP=4472;ExcessHet=25.4433;FS=5.818;InbreedingCoeff=-0.7273;MLEAC=12;MLEAF=0.316;MQ=59.31;MQRankSum=-8.049;QD=0.45;ReadPosRankSum=-0.761;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,59:317:99:0|1:25097005_A_G:1701,0,10656:25097005	7	0	12	0
chr13	32339733	32339733	A	G	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.A5378G:p.N1793S	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	YES	131604	Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_breast_ovarian_cancer_syndrome	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.0177747255317	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs80358759	4.105e-06	4.104e-06	2.723e-06	5.502e-06	3.479e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	2.521e-05	0	0	1.799e-06	0	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.923	0.02845	T	.	.	.	.	.	.	0.771463	0.06600	N	1.105620	1	0.08975	N	.	.	.	5.79	0.00674	T	0.57	0.02638	N	0.088	0.09490	-0.9068	0.47238	T	0.002	0.00615	T	10	0.047222763	0.04012	T	0.017775	0.39611	T	0.029	0.06676	0.42	0.46200	0.731923157262	0.72953	0.06261663205500768	0.06201	0.018699304688	0.01823	0.232337206602	0.02146	T	.	.	.	-0.423513	0.01625	T	-0.664596	0.07959	T	0.0371277929641667	0.03179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.01179	B	.;.	.;.	-0.721854	0.01270	0.067	0.18274567340301837	0.00568	0.03912	0.09295	N	AEFBI	0.062723	0.12076	N	-1.87880626217709	0.00379	0.0163076	-1.87731099646759	0.00542	0.02405362	0.806217441524251	0.24274	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.32	-1.24	0.08948	-0.423000	0.07102	-0.775000	0.07479	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3288:0.2556:0.2402:0.1755	0.861	0.01118	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2785.33	112	chr13	32339733	.	A	G	2785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.019;DP=2191;ExcessHet=0;FS=3.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.548;SOR=0.504	GT:AD:DP:GQ:PL	0/1:103,104:207:99:2799,0,2876	18	0	1	0
chr13	38689807	38689807	C	A	exonic	FREM2	.	stopgain	FREM2:NM_207361:exon1:c.C2463A:p.Y821X	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000775	0.41888	D	0.249082	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.759	0.75742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.099867	0.96141	35	0.99651990985997241	0.77380	0.70237	0.34508	D	AEFBCI	0.321798	0.42448	N	0.484280776219817	0.66171	4.915861	0.306440176747559	0.55919	3.754643	0.999877768147035	0.44625	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.8	2.77	0.31614	0.343000	0.19686	0.400000	0.17989	0.594000	0.32500	0.641000	0.28093	0.032000	0.21310	0.967000	0.53440	0.0:0.7767:0.0:0.2233	11.610	0.50311	938	0.14419	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	305.33	65	chr13	38689807	.	C	A	305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.325;DP=1316;ExcessHet=0;FS=211.559;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.305;SOR=7.903	GT:AD:DP:GQ:PL	0/1:163,51:214:99:319,0,4160	18	0	1	0
chr13	38784578	38784578	C	T	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon6:c.C5789T:p.P1930L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	334594	Fraser_syndrome_2|Isolated_cryptophthalmia|Inborn_genetic_diseases	MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0152728026126	7.7e-05	0.000199681	0.0004	0	0	0	0.0002	0.0007	0	0.0002	0.0003299	51	154602	rs114524483	0.0001	0.0001	0.0001	9.763e-05	0.0001	9.266e-05	8.731e-05	0.0001	9.602e-05	5.974e-05	0	0	0	0.0001	0	0.0001	0.0001	5.797e-05	9.192e-05	9.186e-05	0.0001	6.714e-05	0.0002	5.524e-05	4.362e-05	0.0001	8.878e-05	0	0	0	0	0	0	0	0.0002	0	0.0002	1.0	0.00964	T	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.052003	1	0.81001	D	.	.	.	2.12	0.19726	T	-7.5	0.95045	D	0.497	0.53006	-1.0299	0.20487	T	0.118	0.41560	T	10	0.1971857	0.35641	T	0.015273	0.35904	T	0.208	0.49714	.	.	0.584243892073	0.58097	0.6395784543132023	0.63892	0.228251388131	0.25376	0.589262485504	0.51390	T	.	.	.	-0.216596	0.18460	T	-0.216837	0.53041	T	0.313885761497279	0.25573	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.39782	B	.	.	4.445807	0.69071	25.3	0.95753434248808311	0.27731	0.98982	0.89513	D	AEFDBIJ	0.633950	0.61400	D	0.516478407268328	0.68063	5.166003	0.5142858792791	0.68950	5.291383	0.99999911834633	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	6.02	5.17	0.70848	5.022000	0.63850	3.630000	0.39313	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.895000	0.43227	0.0:0.8683:0.1317:0.0	16.971	0.86170	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1102.33	41	chr13	38784578	.	C	T	1102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.127;DP=736;ExcessHet=0;FS=2.516;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-1.01;SOR=0.963	GT:AD:DP:GQ:PL	0/1:61,46:107:99:1116,0,1562	18	0	1	0
chr13	40933871	40933871	G	T	exonic	ELF1	.	nonsynonymous SNV	ELF1:NM_001145353:exon8:c.C1342A:p.P448T,ELF1:NM_001370330:exon9:c.C1414A:p.P472T,ELF1:NM_001370331:exon9:c.C1414A:p.P472T,ELF1:NM_172373:exon9:c.C1414A:p.P472T,ELF1:NM_001370329:exon10:c.C1237A:p.P413T,ELF1:NM_001370332:exon11:c.C1414A:p.P472T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	.	7.7e-05	0.00159744	0.0015	0	0	0	0	0	0	0.0108	0.0012419	192	154602	rs372346993	0.0007	0.0007	0.0003	0.0010	0.0107	0.0006	0.0006	0.0101	0.0099	0	2.236e-05	0	0	0	0.0002	3.597e-06	0.0005	0.0107	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	2.405e-05	0	0	0	0	0	0	0	0	0.0093	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.063505	0.999977	0.53665	D	2.085	0.57729	M	0.68	0.51952	T	-5.51	0.85921	D	0.824	0.90590	-0.6306	0.63545	T	0.241	0.60917	T	10	0.009188652	0.00208	T	.	.	.	0.423	0.73152	.	.	0.729326936498	0.72692	0.6998848025425075	0.69929	0.726405634314	0.62510	0.695897579193	0.66552	T	0.742839	0.92892	D	-0.0615711	0.42662	T	0.148176	0.80069	D	0.114386356917936	0.13872	T	0.926107	0.72788	D	0.8277906	0.85749	0.8192305	0.89489	0.8277906	0.85750	0.8192305	0.89489	-8.631	0.65339	D	.	.	0.225	0.62718	B	.;.;.	.;.;.	4.678143	0.74840	26.2	0.9977123616092588	0.85918	0.98468	0.83094	D	AEFGBI	0.866017	0.78530	D	0.728519163930503	0.81503	7.537225	0.748071557747647	0.86012	8.755407	0.999999999998854	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.679000	0.83364	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.271	0.93998	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.015152	0.02632	1313.33	34	chr13	40933871	.	G	T	1313.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.925;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.08;SOR=0.711	GT:AD:DP:GQ:PL	0/1:77,55:132:99:1327,0,2329	18	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,42:144:99:.:.:301,0,2547:.	3	0	15	1
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	487.46	49	chr13	48459808	.	T	C	487.46	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-4.073;DP=1639;ExcessHet=4.0268;FS=118.507;InbreedingCoeff=-0.2619;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.426;SOR=11.168	GT:AD:DP:GQ:PL	0/1:84,31:115:46:46,0,1659	11	0	8	0
chr13	48510702	48510702	A	T	exonic	RCBTB2	.	nonsynonymous SNV	RCBTB2:NM_001286831:exon7:c.T781A:p.S261T,RCBTB2:NM_001352429:exon7:c.T865A:p.S289T,RCBTB2:NM_001352426:exon8:c.T781A:p.S261T,RCBTB2:NM_001286830:exon9:c.T868A:p.S290T,RCBTB2:NM_001352424:exon9:c.T853A:p.S285T,RCBTB2:NM_001352425:exon9:c.T853A:p.S285T,RCBTB2:NM_001268:exon10:c.T853A:p.S285T	.	429	1091	2	0	0	2	0.000915751	.	.	.	4054573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.294	0.0863565206993	.	.	9.885e-05	0	0	0	0	0.0001	0	0.0003	9.06e-05	14	154602	rs754541097	6.43e-05	6.43e-05	5.581e-05	7.288e-05	0.0005	5.361e-05	4.976e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0005	4.586e-05	0.0001	0.0004	3.286e-05	3.283e-05	1.285e-05	5.381e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0.0002	0.52	0.07259	T	0.233	0.24913	T	0.08	0.24543	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.695	0.17993	N	-1.85	0.84267	D	-1.12	0.28906	N	0.337	0.38746	-0.3158	0.74540	T	0.479	0.80058	T	10	0.21218193	0.37670	T	0.086357	0.74721	D	0.294	0.61388	.	.	0.941507651443	0.94089	0.5500566912175751	0.54931	0.51541283519	0.49451	0.764470458031	0.76596	T	0.26366	0.63536	T	-0.191879	0.21983	T	-0.221248	0.52616	T	0.142032414674759	0.16449	T	0.49565	0.15376	T	0.2823745	0.51275	0.25156388	0.50770	0.2823745	0.51275	0.25156388	0.50769	-3.102	0.11319	T	.	.	0.088	0.15430	B	.;.;.	.;.;.	2.636524	0.34295	19.59	0.99058593552392826	0.51436	0.95114	0.63489	D	AEFGBI	0.677641	0.64228	D	-0.00364344692250884	0.41689	2.498226	0.193341769443658	0.49482	3.15077	0.999999997539423	0.74766	0.643511	0.44296	0	0.688494	0.66719	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	5.930000	0.69823	9.355000	0.80329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.152	0.81441	696	0.58299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	582.33	34	chr13	48510702	.	A	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.554;DP=674;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.736;SOR=0.963	GT:AD:DP:GQ:PL	0/1:27,24:51:99:596,0,635	18	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:74,32:111:41:41,0,1241	6	0	13	0
chr13	96987341	96987341	C	G	exonic	OXGR1	.	nonsynonymous SNV	OXGR1:NM_001346194:exon4:c.G419C:p.S140T,OXGR1:NM_001346195:exon4:c.G419C:p.S140T,OXGR1:NM_001346196:exon4:c.G419C:p.S140T,OXGR1:NM_001346197:exon4:c.G419C:p.S140T,OXGR1:NM_080818:exon4:c.G419C:p.S140T	.	0	225	0	1	0	2	0.00442478	.	.	.	2236676	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.00626546284933	.	.	5.771e-05	0	8.657e-05	0	0	7.498e-05	0	6.061e-05	4.53e-05	7	154602	rs772643646	3.967e-05	3.967e-05	3.675e-05	4.263e-05	0.0014	3.113e-05	2.846e-05	0.0007	0.0005	5.974e-05	6.708e-05	0	0	0	0.0014	3.147e-05	6.623e-05	6.956e-05	5.252e-05	5.249e-05	6.423e-05	4.028e-05	0.0001	2.555e-05	1.829e-05	2.258e-05	9.06e-06	4.812e-05	0	0.0001	0	0	0	0.0034	4.409e-05	0	0	0.073	0.34800	T	0.154	0.32040	T	0.001	0.07471	B	0.004	0.10090	B	0.011732	0.29422	N	0.361134	0.769525	0.29452	N	1.245	0.31408	L	1.17	0.37910	T	-0.59	0.17624	N	0.101	0.10198	-1.0590	0.12007	T	0.053	0.22423	T	10	0.10871652	0.20251	T	0.006265	0.16435	T	0.091	0.26358	0.498	0.58835	0.368369118721	0.36443	0.17841026517145916	0.17760	0.0413162352792	0.04434	0.335256397724	0.15726	T	0.028905	0.20830	T	-0.284146	0.10234	T	-0.448961	0.27811	T	0.066310741007328	0.08124	T	0.526647	0.17353	T	0.086520225	0.20114	0.10703108	0.25760	0.086520225	0.20114	0.10703108	0.25760	-4.339	0.28720	T	.	.	0.084	0.09917	B	.;.	.;.	2.516682	0.32515	19.06	0.97366198986070007	0.33598	0.95667	0.65647	D	AEFGBI	0.607213	0.59726	D	-0.229364204857556	0.31934	1.79568	-0.0125630643377573	0.39146	2.316688	0.938922480691351	0.27365	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.56	5.56	0.83678	1.294000	0.32971	2.738000	0.34441	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.988000	0.63387	0.0:0.8424:0.0:0.1576	9.746	0.39615	716	0.55970	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	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2530.33	35	chr13	96987341	.	C	G	2530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.561;DP=901;ExcessHet=0;FS=7.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.152;SOR=1.256	GT:AD:DP:GQ:PL	0/1:81,90:171:99:2544,0,2266	18	0	1	0
chr13	99982726	99982726	T	C	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.T662C:p.M221T	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0178519244245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.858e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.1	0.38742	T	0.978	0.58756	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999631	0.47961	D	2.645	0.77386	M	0.96	0.42888	T	-1.87	0.43717	N	0.763	0.76111	-0.7691	0.56907	T	0.203	0.55961	T	10	0.78815204	0.78426	D	0.017852	0.39707	T	0.259	0.57090	0.398	0.42590	0.811034351174	0.80926	0.467208398964936	0.46639	.	.	0.795973479748	0.81350	T	0.353995	0.72121	T	0.0407889	0.57148	T	-0.179186	0.56599	T	0.888951897621155	0.53961	D	0.928457	0.73631	D	0.40607628	0.61151	0.41964376	0.65952	0.40607628	0.61151	0.41964376	0.65952	-10.574	0.77271	D	.	.	0.781	0.76429	P	.	.	4.823570	0.78594	26.9	0.9367131463857612	0.23567	0.95548	0.65160	D	AEFDGBHCI	0.804071	0.72903	D	0.325505208218098	0.57460	3.913503	0.277729973607977	0.54242	3.589749	0.999999998195551	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.38	0.37806	6.224000	0.72210	7.804000	0.69231	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1454:0.0:0.0:0.8546	10.514	0.44066	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	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	258.3	43	chr13	99982726	.	T	C	258.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.333;DP=1129;ExcessHet=0.119;FS=169.358;InbreedingCoeff=-0.0474;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=0.28;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,23:158:4:0|1:99982726_T_C:4,0,4797:99982726	17	0	2	0
chr13	102731601	102731601	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G19096A:p.D6366N	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0129531102725	.	0.00159744	0.0049	0	0.0049	0	0	0.0082	0	0.0033	0.0011125	172	154602	rs146908292	0.0027	0.0026	0.0027	0.0027	0.0029	0.0026	0.0026	0.0026	0.0025	0.0002	0.0017	0.0280	0	0.0011	0.0012	0.0024	0.0033	0.0029	0.0021	0.0021	0.0021	0.0021	0.0026	0.0019	0.0019	0.0020	0.0018	0.0004	0	0.0026	0.0259	0	0.0008	0.0034	0.0022	0.0028	0.0014	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.096	0.07673	-0.9725	0.36670	T	0.015	0.06234	T	9	0.003477186	0.00062	T	0.012953	0.31963	T	0.066	0.19193	.	.	0.0611884634855	0.05136	0.03372737036891472	0.03320	.	.	0.373534619808	0.21338	T	.	.	.	-0.691426	0.00041	T	-0.769327	0.02790	T	0.0260278862692175	0.01411	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05668	B	.	.	0.282265	0.06588	3.082	0.99234602965843144	0.56342	0.02524	0.07029	N	AEFGBI	0.022120	0.01067	N	-0.382046746866213	0.26108	1.422408	-0.486863384320249	0.22515	1.223265	0.999770521982923	0.42865	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.48	2.75	0.31439	-0.553000	0.06104	-0.138000	0.11547	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.359000	0.25863	0.0:0.7936:0.0:0.2064	7.111	0.24566	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3436.33	86	chr13	102731601	.	C	T	3436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.2;DP=1900;ExcessHet=0;FS=0.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.939;SOR=0.692	GT:AD:DP:GQ:PL	0/1:113,127:240:99:3450,0,2834	18	0	1	0
chr13	102737736	102737736	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12961A:p.E4321K	.	427	1084	10	1	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0.00279553	0.0047	0.0009	0.0024	0	0.0294	0.0074	0	0.0033	0.0020181	312	154602	rs117481050	0.0100	0.0095	0.0102	0.0097	0.0119	0.0098	0.0098	0.0117	0.0116	0.0014	0.0035	0.0014	0	0.0047	0.0009	0.0119	0.0080	0.0030	0.0060	0.0060	0.0065	0.0056	0.0104	0.0057	0.0056	0.0097	0.0095	0.0019	0	0.0041	0.0014	0.0002	0.0041	0	0.0104	0.0062	0.0010	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.14763	.	.	.	.	.	.	.	0.0032805502	0.00056	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.12682296478639074	0.12608	.	.	0.244585797191	0.03219	T	.	.	.	-0.548664	0.00297	T	-0.549863	0.17339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11220	B	.	.	-1.228237	0.00503	0.011	0.37309490147572555	0.02451	0.01149	0.04157	N	AEFBI	.	.	.	.	.	.	.	.	.	0.967721920860757	0.28998	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0510869	0.10242	1.84	-2.39	0.06223	-1.881000	0.01717	-7.496000	0.01144	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7075:0.2925:0.0:0.0	7.306	0.25624	952	0.10565	.	.	.	ERCC5	Breast_Mammary_Tissue	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001266	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1930.33	68	chr13	102737736	.	C	T	1930.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.461;DP=2572;ExcessHet=0;FS=2.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.25;SOR=0.507	GT:AD:DP:GQ:PL	0/1:93,77:170:99:1944,0,2496	18	0	1	0
chr13	102858296	102858296	C	G	exonic	BIVM-ERCC5;ERCC5	.	nonsynonymous SNV	ERCC5:NM_000123:exon6:c.C550G:p.Q184E,BIVM-ERCC5:NM_001204425:exon14:c.C1912G:p.Q638E	.	1	1517	4	0	0	4	0.00131666	.	.	.	2302751	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.00383742097825	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.057e-05	2.59e-05	4	154602	rs774188914	2.668e-05	2.668e-05	2.723e-05	2.613e-05	0.0007	1.997e-05	1.754e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0	0	0.0007	1.439e-05	3.312e-05	0.0002	2.627e-05	2.625e-05	2.57e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	0.15	0.29158	T	0.51	0.28120	T	0.304	0.32663	B	0.057	0.26280	B	0.048797	0.23220	N	0.449991	0.966444	0.25893	N	0.69	0.16971	N	1.91	0.23283	T	-1.0	0.26422	N	0.112	0.09914	-1.0100	0.26917	T	0.036	0.15683	T	10	0.11219841	0.21038	T	0.003837	0.08992	T	0.046	0.12618	0.269	0.21735	0.329540904979	0.32555	0.05496004706168402	0.05437	0.143694538918	0.16225	.	.	.	0.122575	0.44634	T	-0.429487	0.01493	T	-0.652051	0.08811	T	0.0389960706233978	0.03509	T	0.879112	0.59504	D	0.075817905	0.17107	0.07181042	0.15420	0.075817905	0.17106	0.07181042	0.15420	-9.481	0.70995	D	.	.	0.073	0.09723	B	.;.;.;.;.	.;.;.;.;.	2.740838	0.35902	20.1	0.96911502309577913	0.31577	0.80383	0.40035	D	AEFDBI	0.132994	0.25250	N	-0.235277679091678	0.31695	1.779839	-0.0993867615122395	0.35416	2.048716	0.883385116943605	0.25672	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.31	2.85	0.32333	0.438000	0.21277	1.673000	0.27967	0.599000	0.40250	0.880000	0.30988	1.000000	0.68203	0.993000	0.69303	0.3034:0.559:0.0:0.1377	6.846	0.23173	936	0.14734	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1118.33	33	chr13	102858296	.	C	G	1118.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.35;SOR=0.586	GT:AD:DP:GQ:PL	0/1:32,41:73:99:1132,0,821	18	0	1	0
chr13	110457193	110457193	C	G	exonic	COL4A2-AS2	.	nonsynonymous SNV	COL4A2-AS2:NM_001267044:exon5:c.G532C:p.G178R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0	0	0	0	0	0	0	0	0.0001164	18	154602	rs9588171	0.0001	0.0012	6.902e-05	0.0002	0.0003	8.574e-05	7.405e-05	0.0001	0.0001	0	5.633e-05	0	0	0	0	0.0001	8.924e-05	0.0003	7.003e-05	6.326e-05	0.0001	0	0.0002	1.857e-05	1.015e-05	1.751e-05	7.17e-06	0	0	0.0002	0	0	0	0	9.99e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	68.54	10	chr13	110457193	.	C	G	68.54	.	AC=2;AF=0.077;AN=26;DP=661;ExcessHet=0.0101;FS=6.166;InbreedingCoeff=0.1246;MLEAC=3;MLEAF=0.115;MQ=47.41;QD=4.57;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,0:0:12:0|1:110457135_T_TC:267,0,57:110457135	11	0	2	6
chr13	113149320	113149320	G	A	exonic	F10	.	nonsynonymous SNV	F10:NM_001312674:exon7:c.G1138A:p.V380I,F10:NM_000504:exon8:c.G1270A:p.V424I	Factor X deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.115126011505	7.7e-05	0.000399361	3.321e-05	9.711e-05	0.0002	0	0	1.516e-05	0	0	3.88e-05	6	154602	rs201301913	5.408e-05	5.404e-05	6.265e-05	4.541e-05	0.0004	4.413e-05	4.085e-05	0.0002	0.0002	2.987e-05	0.0004	0	0	0	0	5.036e-05	9.936e-05	0	0.0002	0.0002	0.0001	0.0003	0.0016	0.0002	0.0001	0.0011	0.0009	7.214e-05	0	0.0016	0	0	0	0	7.351e-05	0.0005	0	0.176	0.22312	T	0.174	0.30045	T	0.917	0.50750	P	0.836	0.59919	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.88	0.49984	L	-2.49	0.89145	D	-0.83	0.22727	N	0.301	0.34012	0.485	0.90341	D	0.764	0.91974	D	10	0.148693	0.28155	T	0.115126	0.79420	D	0.487	0.77528	.	.	0.882292857207	0.88113	0.7202456625854737	0.71967	1.3001511109	0.82996	0.513878583908	0.40766	T	0.540708	0.84269	D	-0.138079	0.30196	T	-0.101967	0.63246	T	0.137266248464584	0.16037	T	0.886911	0.61435	D	0.4217307	0.62207	0.25772172	0.51493	0.4217307	0.62207	0.25772172	0.51493	-5.818	0.44731	T	0.3926492551740238	0.48561	0.121	0.25067	B	.	.	3.948838	0.57831	23.9	0.99418778248862993	0.63645	0.94745	0.62184	D	AEFDGBCI	0.934659	0.92835	D	0.489620854939774	0.66482	4.955856	0.441261339353195	0.64158	4.664604	1.0	0.98316	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	5.38	5.38	0.77279	5.676000	0.67802	7.389000	0.58501	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.151	0.93476	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1973.33	35	chr13	113149320	.	G	A	1973.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=2.26;SOR=0.662	GT:AD:DP:GQ:PL	0/1:104,80:184:99:1987,0,2536	18	0	1	0
chr13	113325836	113325838	CGA	-	exonic	GRTP1	.	nonframeshift deletion	GRTP1:NM_001286732:exon7:c.744_746del:p.R249del,GRTP1:NM_024719:exon7:c.744_746del:p.R249del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0001	0.0003	0.0007	0	0	9.1e-05	0	0	0.0001423	22	154602	rs533741127	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0004	0.0004	2.987e-05	0.0006	7.653e-05	0	0	0.0009	0.0001	0.0004	0	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0017	0.0015	0.0002	0	0.0023	0	0	0	0	0.0002	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.005102	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2043.29	33	chr13	113325835	.	CCGA	C	2043.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.855;DP=769;ExcessHet=0;FS=2.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=2.13;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,54:122:99:0|1:113325835_CCGA_C:2057,0,2668:113325835	18	0	1	0
chr13	113325839	113325839	A	T	exonic	GRTP1	.	nonsynonymous SNV	GRTP1:NM_001286732:exon7:c.T743A:p.L248H,GRTP1:NM_024719:exon7:c.T743A:p.L248H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.0679734941843	.	0.000998403	0.0001	0.0003	0.0007	0	0	9.111e-05	0	0	0.0001617	25	154602	rs201928660	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0004	0.0004	2.987e-05	0.0006	7.654e-05	0	0	0.0009	0.0001	0.0004	0	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0017	0.0015	0.0002	0	0.0023	0	0	0	0	0.0002	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000042	0.53742	D	0.073346	1	0.81001	D	3.69	0.94526	H	1.39	0.33842	T	-6.99	0.93621	D	0.935	0.94077	0.017	0.82590	D	0.296	0.66792	T	10	0.26545405	0.44042	T	0.067973	0.70319	D	0.618	0.85144	.	.	0.777286459587	0.77523	0.8867055204469152	0.88639	0.627220089827	0.56825	0.818237900734	0.84758	D	0.194154	0.54984	T	0.0496337	0.58296	T	0.213014	0.83818	D	0.746134757995605	0.43071	D	0.907009	0.67171	D	0.87023133	0.88879	0.8050071	0.88584	0.87023133	0.88880	0.8050071	0.88584	-13.107	0.89798	D	.	.	0.759	0.83043	P	.;.;.	.;.;.	5.052496	0.84159	28.2	0.98468481787767492	0.41826	0.95456	0.64793	D	AEFDBCI	0.916621	0.88307	D	0.891362425326409	0.91329	10.82923	0.754889691078964	0.86523	8.916226	0.999999999996299	0.74766	0.660377	0.49826	0	0.577304	0.33150	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.82	4.82	0.61641	8.379000	0.90036	10.796000	0.83778	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	1.0:0.0:0.0:0.0	14.424	0.66775	982	0.03397	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005102	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2046.33	33	chr13	113325839	.	A	T	2046.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.302;DP=764;ExcessHet=0;FS=2.321;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=2.04;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,54:121:99:0|1:113325835_CCGA_C:2060,0,2647:113325835	18	0	1	0
chr13	113403713	113403713	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C4477T:p.P1493S,LOC101928841:NM_001375393:exon2:c.C4477T:p.P1493S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	.	.	.	.	.	.	.	.	0.0019978	52	26028	rs183860036	0.0008	0.0006	0.0008	0.0008	0.0180	0.0008	0.0007	0.0165	0.0160	0.0180	0.0029	0.0028	0	0.0003	0.0058	0.0003	0.0019	0.0002	0.0053	0.0053	0.0055	0.0051	0.0160	0.0050	0.0049	0.0150	0.0146	0.0160	0	0.0047	0.0017	0	0.0006	0	0.0006	0.0061	0	.	.	.	0.1	0.38742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.003664136	0.00067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010074	0.09129	T	.	.	.	.	.	.	.	.	.	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.	.	1.314017	0.17173	13.00	0.66050824924070117	0.07947	0.04024	0.09458	N	AEFBI	.	.	.	.	.	.	.	.	.	0.997883848783634	0.36150	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0529059	0.11492	3.98	3.13	0.35090	0.032000	0.13620	-0.054000	0.12508	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1101:0.0:0.8899:0.0	8.607	0.32940	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	770.33	36	chr13	113403713	.	G	A	770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.387;DP=800;ExcessHet=0;FS=2.152;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.264;SOR=1.022	GT:AD:DP:GQ:PL	0/1:42,28:70:99:784,0,1220	18	0	1	0
chr13	113404039	113404039	G	0	exonic	LOC101928841	.	.	.	.	897	593	26	2	4	34	0.0246711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3499.02	135	chr13	113404039	.	G	*	3499.02	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.361;DP=2959;ExcessHet=0.3672;FS=0.571;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=58.99;MQRankSum=1.22;QD=4.46;ReadPosRankSum=1.26;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,23:60:99:.:.:559,0,1292:.	18	0	1	0
chr13	113404053	113404053	C	0	exonic	LOC101928841	.	.	.	.	916	572	5	1	28	35	0.00608167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1487.43	135	chr13	113404053	.	C	*	1487.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.119;DP=2541;ExcessHet=0.119;FS=1.444;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.1;MQRankSum=-0.541;QD=4.51;ReadPosRankSum=1.75;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,23:60:99:.:.:559,0,1292:.	18	0	1	0
chr13	113404628	113404628	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G3562A:p.A1188T,LOC101928841:NM_001375393:exon2:c.G3562A:p.A1188T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00519169	.	.	.	.	.	.	.	.	0.0020747	54	26028	rs184423615	0.0008	0.0007	0.0008	0.0008	0.0174	0.0008	0.0008	0.0160	0.0155	0.0174	0.0027	0.0026	0.0004	0.0003	0.0056	0.0003	0.0019	0.0001	0.0052	0.0052	0.0053	0.0050	0.0157	0.0049	0.0048	0.0147	0.0143	0.0157	0	0.0044	0.0017	0.0004	0.0006	0	0.0006	0.0062	0	.	.	.	0.085	0.41074	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.0039473474	0.00076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027902	0.20332	T	.	.	.	.	.	.	.	.	.	0.421758	0.11220	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12560	B	.	.	0.913035	0.12875	9.387	0.78862103937583006	0.12485	0.04095	0.09560	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999972553987915	0.50053	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0577867	0.13796	1.09	0.191	0.14411	0.105000	0.15169	-0.588000	0.08339	-0.245000	0.07249	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6905:0.0:0.3095	3.198	0.06245	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1924.33	69	chr13	113404628	.	C	T	1924.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.998;DP=1549;ExcessHet=0;FS=2.006;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.625;SOR=0.537	GT:AD:DP:GQ:PL	0/1:83,75:158:99:1938,0,2066	18	0	1	0
chr13	113406355	113406355	C	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G1835T:p.G612V,LOC101928841:NM_001375393:exon2:c.G1835T:p.G612V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs189561106	0.0005	0.0003	0.0005	0.0004	0.0083	0.0004	0.0004	0.0074	0.0070	0.0083	0.0011	0.0006	0	0.0004	0.0024	0.0003	0.0008	5.132e-05	0.0026	0.0026	0.0026	0.0026	0.0079	0.0024	0.0023	0.0072	0.0069	0.0079	0	0.0010	0.0012	0	0.0006	0	0.0004	0.0038	0	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.004910022	0.00105	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012793	0.11182	T	.	.	.	.	.	.	.	.	.	0.436356	0.11970	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.44643	B	.	.	1.363331	0.17728	13.33	0.79582207452569786	0.12807	0.01854	0.05730	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999918160119636	0.45857	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0577867	0.13796	3.99	1.24	0.20416	0.125000	0.15577	0.033000	0.13759	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1526:0.3602:0.299:0.1882	1.629	0.02564	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2416.33	69	chr13	113406355	.	C	A	2416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.381;DP=1422;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.86;SOR=0.588	GT:AD:DP:GQ:PL	0/1:92,92:184:99:2430,0,2430	18	0	1	0
chr14	22905233	22905233	C	T	exonic	RBM23	.	nonsynonymous SNV	RBM23:NM_001077352:exon6:c.G485A:p.R162H,RBM23:NM_001308044:exon6:c.G77A:p.R26H,RBM23:NM_001352762:exon7:c.G77A:p.R26H,RBM23:NM_018107:exon7:c.G539A:p.R180H,RBM23:NM_001077351:exon8:c.G587A:p.R196H,RBM23:NM_001352765:exon8:c.G539A:p.R180H,RBM23:NM_001352763:exon9:c.G587A:p.R196H,RBM23:NM_001352764:exon9:c.G719A:p.R240H,RBM23:NM_001352766:exon10:c.G587A:p.R196H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.00474953889521	.	.	7.461e-05	0	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs370639272	4.72e-05	4.72e-05	3.403e-05	6.05e-05	0.0005	3.794e-05	3.476e-05	0.0004	0.0003	2.987e-05	2.236e-05	0	2.52e-05	0	0	1.978e-05	1.656e-05	0.0005	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.544e-05	0	0	0	0	4.409e-05	0	0.0002	0.027	0.49117	D	0.002	0.79402	D	0.935	0.62325	P	0.658	0.52749	P	0.004364	0.33816	N	0.191554	0.999999	0.81001	D	2.08	0.57402	M	2.22	0.18248	T	-4.5	0.80510	D	0.766	0.82559	-1.0604	0.11656	T	0.084	0.32814	T	10	0.47988185	0.60367	T	0.00475	0.11847	T	0.320	0.64215	0.563	0.68364	0.445410361449	0.44164	0.6680422598895513	0.66742	0.392550924744	0.40435	0.817374587059	0.84626	D	0.113597	0.43077	T	-0.0908143	0.37940	T	-0.0319656	0.68237	D	0.357026282038741	0.27293	T	0.988701	0.96153	D	0.42530015	0.62442	0.2821927	0.54206	0.42530015	0.62443	0.2821927	0.54205	-13.301	0.91832	D	.	.	0.903	0.86373	P	.;.;.;.;.;.	.;.;.;.;.;.	4.530451	0.71121	25.6	0.99946900418419149	0.99913	0.98992	0.89656	D	AEFBI	0.855353	0.77246	D	0.624174824848471	0.74708	6.178542	0.647109145603861	0.78394	6.86779	0.999999999999994	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	7.432000	0.79528	1.190000	0.24759	0.599000	0.40250	1.000000	0.71638	0.325000	0.24344	0.994000	0.71098	0.0:1.0:0.0:0.0	17.355	0.87222	795	0.45444	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1213.33	34	chr14	22905233	.	C	T	1213.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=884;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.132;SOR=0.818	GT:AD:DP:GQ:PL	0/1:80,46:126:99:1227,0,2075	18	0	1	0
chr14	22982218	22982218	G	A	exonic	AJUBA	.	nonsynonymous SNV	AJUBA:NM_001289097:exon1:c.C49T:p.R17C,AJUBA:NM_032876:exon1:c.C49T:p.R17C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0638515102751	.	.	5.841e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs775431154	2.121e-05	2.121e-05	1.361e-05	2.888e-05	0.0003	1.52e-05	1.324e-05	0.0002	0.0002	0	0	3.83e-05	0	0	0	0	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.046	0.49120	D	0.013	0.16609	B	0.001	0.04355	B	0.367501	0.13577	N	0.666605	0.998224	0.44650	D	0.55	0.14455	N	0.35	0.58029	T	-0.96	0.25551	N	0.341	0.43223	-1.0262	0.21690	T	0.097	0.36471	T	10	0.09364182	0.16588	T	0.063852	0.69096	D	0.191	0.46948	0.26	0.20315	0.650098381313	0.64719	0.20871546462106946	0.20787	.	.	0.827665925026	0.86205	D	0.063632	0.32225	T	-0.258872	0.13033	T	-0.293472	0.45411	T	0.328617779804051	0.26169	T	0.886711	0.61387	D	0.18222515	0.39431	0.25082722	0.50681	0.18222515	0.39431	0.25082722	0.50681	-7.164	0.55222	T	.	.	0.395	0.59291	A	.;.	.;.	5.409237	0.90547	31	0.99896609556803628	0.96971	0.56455	0.30122	D	AEFDBHCI	0.230019	0.35346	N	-0.260094858977091	0.30702	1.714433	-0.0775240192279132	0.36322	2.11226	0.99999994738021	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.94	4.04	0.46262	0.548000	0.23022	11.694000	0.94399	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0889:0.0:0.9111:0.0	11.256	0.48284	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2242.33	36	chr14	22982218	.	G	A	2242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.155;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.212;SOR=0.683	GT:AD:DP:GQ:PL	0/1:103,92:195:99:2256,0,2531	18	0	1	0
chr14	24074600	24074600	G	A	exonic	CPNE6	.	nonsynonymous SNV	CPNE6:NM_006032:exon6:c.G568A:p.V190I,CPNE6:NM_001280558:exon7:c.G733A:p.V245I,CPNE6:NM_001385056:exon7:c.G568A:p.V190I,CPNE6:NM_001385057:exon7:c.G568A:p.V190I,CPNE6:NM_001385058:exon7:c.G568A:p.V190I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0123000012844	.	0.000599042	0.0003	0	0	0	0	1.498e-05	0	0.0020	0.0002458	38	154602	rs555234339	0.0001	0.0001	6.398e-05	0.0002	0.0017	0.0001	9.567e-05	0.0014	0.0014	2.987e-05	2.236e-05	0	2.519e-05	0	0	1.529e-05	8.279e-05	0.0017	0.0001	0.0001	5.139e-05	0.0002	0.0037	7.571e-05	6.277e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.099	0.43708	T	0.218	0.92824	T	0.857	0.47240	P	0.732	0.55359	P	0.000122	0.49741	D	0.000000	0.997359	0.43821	D	0.155	0.08919	N	1.05	0.39990	T	-0.83	0.26200	N	0.515	0.55799	-0.8468	0.52188	T	0.181	0.52828	T	10	0.019200087	0.00426	T	0.012	0.30749	T	0.195	0.47612	0.382	0.39970	0.434263919452	0.43042	0.5268093397248927	0.52604	0.842555199672	0.68137	0.419303894043	0.27741	T	0.117566	0.43775	T	-0.372299	0.03480	T	-0.326572	0.41849	T	0.109365300690362	0.13357	T	.	.	.	0.28618452	0.51636	0.39106804	0.63886	0.28618452	0.51636	0.39106804	0.63886	-6.226	0.48453	T	.	.	0.159	0.39305	B	.;.;.;.;.	.;.;.;.;.	4.505062	0.70502	25.5	0.99445629712418848	0.65021	0.98911	0.88512	D	AEFDBI	0.942640	0.94747	D	0.541529857194436	0.69569	5.375438	0.596289909461382	0.74671	6.177244	0.999999999996923	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.19	5.19	0.71428	9.485000	0.96909	11.830000	0.97496	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.203	0.81921	878	0.29785	.;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|Copine, C2B domain;.;C2 domain|C2 domain|Copine, C2B domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2499.33	34	chr14	24074600	.	G	A	2499.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.26;DP=1442;ExcessHet=0;FS=8.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.49;ReadPosRankSum=-1.444;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,64:122:99:0|1:24074599_G_C:2513,0,2212:24074599	18	0	1	0
chr14	24183282	24183282	C	G	exonic	IPO4	.	nonsynonymous SNV	IPO4:NM_024658:exon22:c.G2195C:p.C732S	.	.	.	.	.	.	.	.	.	.	.	3680329	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0256189178018	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.0001035	16	154602	rs544661588	5.269e-05	5.267e-05	2.315e-05	8.254e-05	0.0009	4.279e-05	3.954e-05	0.0007	0.0007	0	0	0	0	0	0	0	1.656e-05	0.0009	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.192	0.20988	T	0.415	0.14326	T	0.0	0.02946	B	0.001	0.04355	B	0.000299	0.46274	N	0.230585	0.602849	0.30926	N	0.345	0.11182	N	-0.23	0.66652	T	0.26	0.04380	N	0.182	0.19728	-0.9957	0.31109	T	0.113	0.40261	T	10	0.032699227	0.01427	T	0.025619	0.48579	D	0.079	0.23065	0.603	0.73466	0.581597774705	0.57830	0.1666159249950142	0.16581	0.278320214035	0.30320	0.514469087124	0.40849	T	0.070839	0.34061	T	-0.399642	0.02328	T	-0.406026	0.32685	T	0.0192985473364007	0.00636	T	.	.	.	0.117223956	0.27637	0.09028405	0.21163	0.117223956	0.27637	0.09028405	0.21163	-2.964	0.09799	T	.	.	0.072	0.04159	B	.	.	2.108902	0.26836	17.26	0.78132726358327897	0.12169	0.71817	0.35178	D	AEFGBCI	0.200589	0.32731	N	-0.56316168098959	0.20072	1.055487	-0.405273546705969	0.24841	1.362643	0.999943341882787	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	0.218	0.14546	0.763000	0.26183	1.229000	0.25030	0.587000	0.30956	0.994000	0.38300	1.000000	0.68203	0.819000	0.38590	0.0:0.4687:0.3801:0.1513	7.686	0.27706	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1198.33	38	chr14	24183282	.	C	G	1198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.537;DP=798;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.227;SOR=0.699	GT:AD:DP:GQ:PL	0/1:59,44:103:99:1212,0,1677	18	0	1	0
chr14	24304242	24304242	C	T	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_174913:exon8:c.C1612T:p.R538C	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.00359425	0.0021	0	0	0.0002	0	0	0.0011	0.0155	0.0018887	292	154602	rs202142041	0.0009	0.0009	0.0005	0.0013	0.0148	0.0009	0.0009	0.0142	0.0139	0.0002	8.944e-05	0	0	0	0.0009	8.094e-06	0.0011	0.0148	0.0005	0.0005	0.0002	0.0009	0.0155	0.0004	0.0004	0.0127	0.0117	0.0001	0	6.532e-05	0	0	0	0	1.47e-05	0	0.0155	0.053	0.38863	T	0.042	0.50226	D	0.987	0.61912	D	0.653	0.52567	P	0.009546	0.30309	N	0.337741	0.624892	0.81001	D	0.92	0.23413	L	2.54	0.13916	T	-3.26	0.65397	D	0.21	0.23380	-1.1982	0.00163	T	0.037	0.16073	T	10	0.00649336	0.00147	T	.	.	.	0.115	0.32236	0.474	0.55020	0.451786746415	0.44804	0.1558311668971433	0.15504	0.329297580921	0.35035	0.325351178646	0.14231	T	0.127524	0.45460	T	-0.494066	0.00617	T	-0.470144	0.25502	T	0.0713617134098558	0.08841	T	.	.	.	0.101099536	0.23879	0.07173227	0.15395	0.101099536	0.23879	0.07173227	0.15394	-6.068	0.46844	T	.	.	0.094	0.14339	B	.	.	3.002745	0.40130	21.1	0.99660126959496564	0.77883	0.16502	0.19418	N	AEFBI	0.150605	0.27492	N	0.192387047543388	0.50834	3.269667	0.173008202211526	0.48373	3.054119	0.999518004385486	0.40117	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	4.39	0.52211	0.401000	0.20673	0.922000	0.22712	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.770000	0.36519	0.1641:0.5738:0.2621:0.0	8.190	0.30522	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1147.33	42	chr14	24304242	.	C	T	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=777;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-0.52;SOR=0.616	GT:AD:DP:GQ:PL	0/1:40,43:83:99:1161,0,894	18	0	1	0
chr14	24331867	24331867	C	T	exonic	ADCY4	.	nonsynonymous SNV	ADCY4:NM_001198568:exon4:c.G590A:p.R197H,ADCY4:NM_001198592:exon5:c.G590A:p.R197H,ADCY4:NM_139247:exon5:c.G590A:p.R197H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0436831764141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.397	0.15157	T	0.28	0.32073	B	0.017	0.18140	B	0.004634	0.33547	N	0.138596	0.999997	0.25966	N	1.395	0.35261	L	-1.14	0.77843	T	-0.9	0.24244	N	0.452	0.50146	-0.8643	0.50952	T	0.259	0.62988	T	10	0.18266925	0.33558	T	0.043683	0.61110	D	0.435	0.74022	0.566	0.68768	0.842858711571	0.84135	0.46808729392645326	0.46727	0.9077017835	0.70913	0.668135523796	0.62571	T	0.281845	0.65458	T	0.0211319	0.54533	T	-0.207422	0.53940	T	0.745564639568329	0.43040	D	.	.	.	0.061341196	0.12690	0.040618543	0.04433	0.061341196	0.12690	0.040618543	0.04432	-5.548	0.42315	T	.	.	0.099	0.17953	B	.;.;.	.;.;.	3.736048	0.53465	23.4	0.99895607252078966	0.96895	0.18339	0.20220	N	AEFDGBCI	0.150856	0.27523	N	-0.395742149507455	0.25620	1.392122	-0.329073401990156	0.27164	1.50543	0.999998742507121	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.616487	0.41570	0	0.711	0.71501	0	.	.	5.15	4.25	0.49658	0.751000	0.26013	4.087000	0.41779	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.981000	0.58702	0.0:0.9075:0.0:0.0925	10.687	0.45046	856	0.34373	Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	188.33	33	chr14	24331867	.	C	T	188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.453;DP=593;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=0.741;SOR=1.27	GT:AD:DP:GQ:PL	0/1:16,11:27:99:202,0,393	18	0	1	0
chr14	24370075	24370075	C	A	exonic	NFATC4	.	nonsynonymous SNV	NFATC4:NM_001198965:exon2:c.C677A:p.T226N,NFATC4:NM_001198966:exon2:c.C467A:p.T156N,NFATC4:NM_001288802:exon2:c.C641A:p.T214N,NFATC4:NM_001363681:exon2:c.C641A:p.T214N,NFATC4:NM_001363682:exon2:c.C641A:p.T214N,NFATC4:NM_004554:exon2:c.C677A:p.T226N,NFATC4:NM_001136022:exon3:c.C866A:p.T289N,NFATC4:NM_001198967:exon3:c.C866A:p.T289N,NFATC4:NM_001320043:exon3:c.C866A:p.T289N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00596560662738	0.0002	0.00219649	0.0014	0.0006	8.854e-05	0	0	4.854e-05	0.0037	0.0088	0.001119	173	154602	rs140402036	0.0006	0.0006	0.0003	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0.0008	8.951e-05	0	2.52e-05	0	0.0005	5.576e-05	0.0009	0.0086	0.0006	0.0006	0.0003	0.0009	0.0095	0.0005	0.0004	0.0073	0.0066	0.0009	0	6.535e-05	0	0	0	0	2.941e-05	0.0005	0.0095	0.115	0.28520	T	0.64	0.07999	T	0.867	0.51611	P	0.35	0.52567	B	0.018678	0.27430	N	0.257726	0.943631	0.28945	N	0.55	0.14455	N	2.38	0.15843	T	-0.37	0.13805	N	0.541	0.57263	-1.1045	0.03588	T	0.043	0.18701	T	10	0.007903308	0.00179	T	0.005966	0.15549	T	0.048	0.13305	.	.	0.267718591433	0.26370	0.16490008164295492	0.16410	0.912470087647	0.71115	0.753374993801	0.74944	T	0.091862	0.38883	T	-0.507512	0.00519	T	-0.494533	0.22916	T	0.108539541194959	0.13272	T	.	.	.	0.1331091	0.30971	0.1555446	0.36455	0.1331091	0.30971	0.1555446	0.36454	-4.419	0.32045	T	.	.	0.091	0.17530	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.073408	0.41320	21.3	0.98386419554146953	0.40915	0.83725	0.42824	D	AEFDBI	0.402073	0.47631	N	0.000391864647362128	0.41873	2.512505	0.0520032799368768	0.42170	2.545945	0.999998679141777	0.74766	0.0	0.00013	3	0.0	0.00010	3	0.688494	0.62686	0	0.727631	0.95156	0	.	.	3.89	3.89	0.44098	3.670000	0.54305	7.691000	0.65788	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	13.733	0.62281	850	0.35610	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	1587.33	36	chr14	24370075	.	C	A	1587.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.138;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.053;SOR=0.671	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1601,0,1754	18	0	1	0
chr14	31388867	31388867	T	C	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon7:c.A911G:p.D304G	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0582623433711	0.0007	0.000798722	0.0007	0	0.0009	0	0.0005	0.0010	0	0.0005	0.0006468	100	154602	rs191067821	0.0005	0.0005	0.0005	0.0006	0.0125	0.0005	0.0005	0.0102	0.0093	0.0001	0.0009	0.0075	0	0.0001	0.0125	0.0003	0.0011	0.0006	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0004	0.0004	0.0003	7.221e-05	0	0.0007	0.0095	0	0	0.0034	0.0005	0.0019	0.0006	0.003	0.68238	D	0.009	0.66756	D	.	.	.	.	.	.	0.000037	0.55875	D	0.158036	0.999999	0.81001	D	.	.	.	3.18	0.07478	T	-4.13	0.75139	D	0.645	0.65673	-0.3083	0.74753	T	0.348	0.71241	T	10	0.010729134	0.00238	T	0.058262	0.67257	D	0.358	0.67872	.	.	0.146414634003	0.14194	0.5306783669414971	0.52991	.	.	0.668260812759	0.62590	T	0.21943	0.58244	T	-0.217696	0.18309	T	-0.144674	0.59711	T	0.092789273463035	0.11545	T	0.89781	0.64256	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55597	B	.	.	4.907205	0.80710	27.4	0.99799972095627087	0.88461	0.95259	0.64030	D	AEFDGBCIJ	0.900088	0.84522	D	0.699577363522754	0.79603	7.112982	0.714730928328987	0.83495	8.037151	0.999999999999977	0.74766	0.706548	0.73137	0	0.616935	0.53198	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.667000	0.82852	7.907000	0.73837	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.031	0.80381	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	0.005539	0.000000	0.009511	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	2537.33	42	chr14	31388867	.	T	C	2537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.278;DP=1318;ExcessHet=0;FS=1.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.216;SOR=0.569	GT:AD:DP:GQ:PL	0/1:77,94:171:99:2551,0,1991	18	0	1	0
chr14	31787859	31787859	A	C	exonic	NUBPL	.	nonsynonymous SNV	NUBPL:NM_001201574:exon2:c.A44C:p.N15T,NUBPL:NM_001201573:exon5:c.A305C:p.N102T,NUBPL:NM_025152:exon7:c.A593C:p.N198T	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	3	1510	8	1	0	10	0.00330033	.	.	.	211676	NUBPL-related_disorder|Mitochondrial_complex_I_deficiency|not_provided|Mitochondrial_complex_I_deficiency,_nuclear_type_1|Mitochondrial_complex_1_deficiency,_nuclear_type_21|Inborn_genetic_diseases	.|MONDO:MONDO:0100133,MedGen:C1838979,Orphanet:2609|MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032625,MedGen:C4748792,OMIM:618242|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.234	0.0124520252723	0.0046	0.00219649	0.0044	0.0009	0.0022	0	0.0058	0.0061	0.0034	0.0032	0.0042302	654	154602	rs11558436	0.0052	0.0053	0.0053	0.0052	0.0060	0.0051	0.0051	0.0058	0.0058	0.0009	0.0020	7.667e-05	0	0.0070	0.0012	0.0060	0.0047	0.0029	0.0047	0.0047	0.0047	0.0046	0.0071	0.0044	0.0043	0.0066	0.0064	0.0008	0.0482	0.0037	0	0.0002	0.0065	0	0.0071	0.0038	0.0027	0.214	0.19361	T	0.36	0.16964	T	0.888	0.48822	P	0.406	0.44683	B	0.000000	0.84330	D	0.000000	0.999972	0.53665	D	0.255	0.09829	N	1.04	0.40218	T	-2.21	0.49684	N	0.691	0.69649	-1.0774	0.07861	T	0.055	0.23375	T	10	0.011787027	0.00256	T	0.012452	0.31033	T	0.234	0.53644	.	.	0.528308644755	0.52478	0.7253635573754865	0.72480	0.368958913548	0.38434	0.753454089165	0.74956	T	0.024173	0.18318	T	-0.399877	0.02319	T	-0.340208	0.40321	T	0.00733469050729113	0.00084	T	0.973753	0.90539	D	0.5106175	0.67715	0.43614912	0.67077	0.5382757	0.69301	0.44352263	0.67566	-10.374	0.76120	D	0.16135742591531044	0.19748	0.251	0.48582	B	.	.	3.936342	0.57567	23.9	0.99428094011755064	0.64130	0.97132	0.72877	D	AEFBCI	0.827309	0.74662	D	0.286839046287627	0.55479	3.712118	0.42413823289704	0.63073	4.533965	0.999650943887264	0.41424	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.62	5.62	0.85714	6.227000	0.72232	7.000000	0.57193	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	13.781	0.62569	442	0.79946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	739.33	38	chr14	31787859	.	A	C	739.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.177;DP=692;ExcessHet=0;FS=2.305;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.45;SOR=1.044	GT:AD:DP:GQ:PL	0/1:24,29:53:99:753,0,767	18	0	1	0
chr14	52028763	52028763	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon11:c.G2489A:p.R830Q	.	427	1043	45	7	0	59	0.0275058	.	.	.	3500838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.182	.	0.0112	0.0177716	0.0084	0.0187	0.0060	0.0216	0.0006	0.0045	0.0066	0.0158	0.0079947	1236	154602	rs7144523	0.0056	0.0056	0.0051	0.0060	0.0454	0.0055	0.0054	0.0409	0.0392	0.0171	0.0063	0.0249	0.0349	0.0015	0.0454	0.0026	0.0090	0.0169	0.0090	0.0090	0.0086	0.0094	0.0306	0.0086	0.0084	0.0268	0.0253	0.0163	0	0.0073	0.0210	0.0306	0.0012	0.0374	0.0033	0.0113	0.0153	0.617	0.05357	T	0.72	0.06147	T	0.032	0.20242	B	0.008	0.13708	B	0.075333	0.21230	N	0.558460	0.995152	0.24245	N	0.4	0.12274	N	-2.2	0.86888	D	0.23	0.04613	N	0.125	0.11769	-0.7669	0.57027	T	0.156	0.48772	T	10	0.0041407347	0.00082	T	.	.	.	0.182	0.45420	.	.	0.629173233237	0.62614	0.2754759937405691	0.27460	0.106631379712	0.12050	0.237848654389	0.02599	T	0.117612	0.43781	T	-0.398745	0.02360	T	-0.306817	0.44000	T	0.00933876780114129	0.00119	T	0.876412	0.60266	D	0.06400333	0.13534	0.036218125	0.03024	0.06400333	0.13534	0.036218125	0.03024	-2.335	0.04750	T	.	.	0.083	0.09191	B	.;.	.;.	2.030002	0.25802	16.89	0.98198910300172382	0.39105	0.04564	0.10207	N	AEFBI	0.053034	0.09519	N	-0.435810968365076	0.24223	1.306472	-0.325364618916186	0.27281	1.512757	0.999937259810121	0.46732	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.94	3.84	0.43422	-0.460000	0.06797	-1.340000	0.05675	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.898000	0.43474	0.1766:0.3843:0.3298:0.1093	2.629	0.04639	899	0.25060	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.034240	0.010101	0.036685	0.078947	0.000000	0.025862	0.018293	0.022727	0.05263	4833.83	56	chr14	52028763	.	C	T	4833.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.76;DP=1031;ExcessHet=0.119;FS=6.071;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=1.04;SOR=0.998	GT:AD:DP:GQ:PL	0/1:63,79:142:99:2159,0,1367	17	0	2	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:47,19:66:99:102,0,927	3	0	16	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	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,29:120:99:0|1:64158707_T_C:399,0,2812:64158707	2	0	15	2
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1526.87	42	chr14	64158708	.	G	A	1526.87	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.476;DP=1445;ExcessHet=2.9153;FS=183.125;InbreedingCoeff=-0.2443;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=0.927;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,29:120:99:0|1:64158707_T_C:399,0,2812:64158707	15	0	3	1
chr14	66681133	66681133	G	A	exonic	GPHN	.	nonsynonymous SNV	GPHN:NM_001024218:exon2:c.G91A:p.A31T,GPHN:NM_001377514:exon2:c.G91A:p.A31T,GPHN:NM_001377515:exon2:c.G91A:p.A31T,GPHN:NM_001377516:exon2:c.G91A:p.A31T,GPHN:NM_001377517:exon2:c.G91A:p.A31T,GPHN:NM_001377518:exon2:c.G91A:p.A31T,GPHN:NM_001377519:exon2:c.G91A:p.A31T,GPHN:NM_020806:exon2:c.G91A:p.A31T	Molybdenum cofactor deficiency C	.	.	.	.	.	.	.	.	.	.	1923337	Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_C	MONDO:MONDO:0014212,MedGen:C1854990,OMIM:615501,Orphanet:308400,Orphanet:833	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.442	0.0801480110863	0.0002	.	1.662e-05	0	0	0	0	3.024e-05	0	0	1.29e-05	2	154602	rs371802458	2.076e-06	4.789e-06	1.379e-06	2.777e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.104e-07	1.671e-05	0	6.584e-06	6.572e-06	1.286e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.229	0.45756	T	0.271	0.37449	T	0.008	0.77913	B	0.008	0.74454	B	0.000000	0.84330	D	0.000000	0.998062	0.58761	D	1.885	0.50048	L	-0.97	0.75670	T	-1.43	0.40660	N	0.827	0.84609	-0.1216	0.79597	T	0.485	0.80370	T	10	0.6661265	0.70437	D	0.080148	0.73396	D	0.442	0.74518	.	.	0.682575271622	0.67986	0.6769045127211721	0.67629	1.6211804712	0.89064	0.82438993454	0.85702	D	0.538259	0.84143	D	0.0743106	0.61368	D	-0.0233774	0.68806	D	0.845218181610107	0.49758	D	0.978852	0.93127	D	0.38291305	0.59527	0.25203672	0.50825	0.38291305	0.59527	0.25203672	0.50824	-7.569	0.58241	D	0.18596865704844293	0.24185	0.433	0.74977	A	.;.;.;.	.;.;.;.	5.419018	0.90675	31	0.99508993373793497	0.68499	0.96088	0.67478	D	AEFBI	0.868415	0.78853	D	0.185999545241518	0.50527	3.241838	0.259226121432469	0.53176	3.487853	0.215811743288137	0.18296	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.11	4.22	0.49153	9.213000	0.94240	11.667000	0.94056	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0901:0.0:0.9098:0.0	11.291	0.48487	510	0.75209	MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;.;MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	284.33	14	chr14	66681133	.	G	A	284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.739;DP=574;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-2.328;SOR=0.368	GT:AD:DP:GQ:PL	0/1:7,12:19:99:298,0,189	18	0	1	0
chr14	77027530	77027532	GCT	-	exonic	IRF2BPL	.	nonframeshift deletion	IRF2BPL:NM_024496:exon1:c.261_263del:p.A102del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3368	.	0.0019	0	0	0	0	0.0027	0	0.0018	3.84e-05	1	26028	rs761143271	0.0007	0.0023	0.0006	0.0007	0.0012	0.0006	0.0006	0.0007	0.0006	0.0002	0.0007	0.0002	0.0012	0.0011	0	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0	0	0	0	0	0.0001	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259843	0.274390	0.238024	0.232258	0.250000	0.330189	0.282609	0.295082	0.02632	376.29	27	chr14	77027529	.	CGCT	C	376.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.247;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.13;ReadPosRankSum=0.49;SOR=1.112	GT:AD:DP:GQ:PL	0/1:7,10:17:99:390,0,258	18	0	1	0
chr14	77027532	77027532	T	0	exonic	IRF2BPL	.	.	.	.	509	314	466	222	11	921	0.591678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7179.38	31	chr14	77027532	.	T	*	7179.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.996;DP=480;ExcessHet=4.2649;FS=3.574;InbreedingCoeff=-0.2116;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-0.175;SOR=1.1	GT:AD:DP:GQ:PL	0/1:0,10:17:99:1183,282,258	18	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	459.9	207	chr14	78297852	.	G	A	459.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.965;DP=2827;ExcessHet=5.3738;FS=251.731;InbreedingCoeff=-0.327;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.61;SOR=13.567	GT:AD:DP:GQ:PL	0/1:87,42:147:79:79,0,1541	10	0	9	0
chr14	88870123	88870123	A	G	exonic	TTC8	.	nonsynonymous SNV	TTC8:NM_001366536:exon9:c.A854G:p.H285R,TTC8:NM_001288782:exon10:c.A380G:p.H127R,TTC8:NM_001366535:exon10:c.A944G:p.H315R,TTC8:NM_198310:exon10:c.A854G:p.H285R,TTC8:NM_001288783:exon11:c.A257G:p.H86R,TTC8:NM_144596:exon11:c.A974G:p.H325R,TTC8:NM_198309:exon11:c.A944G:p.H315R,TTC8:NM_001288781:exon12:c.A1022G:p.H341R	Bardet-Biedl syndrome 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0263687356399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.127e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.997e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.69154	D	0.573	0.49598	P	0.133	0.50064	B	0.000000	0.84330	D	0.046817	0.999999	0.58761	D	.	.	.	0.65	0.54540	T	-3.2	0.64710	D	0.732	0.80278	-0.5627	0.66301	T	0.312	0.68192	T	10	0.75442564	0.75875	D	0.026369	0.49282	D	0.403	0.71636	.	.	0.737109114567	0.73475	0.6359221758080217	0.63526	0.560083087123	0.52549	0.806850790977	0.83010	D	0.25473	0.62542	T	0.135262	0.67871	D	-0.0434815	0.67466	D	0.983386099338531	0.75071	D	0.89481	0.83666	D	.	.	.	.	.	.	.	.	-6.24	0.48245	T	.	.	0.657	0.75115	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.939897	0.57647	23.9	0.99400261362827669	0.62748	0.98314	0.81539	D	AEFBI	0.926558	0.90785	D	0.450958015764809	0.64257	4.676242	0.536328278950265	0.70452	5.507317	0.999934974382992	0.46732	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	8.878000	0.92023	11.144000	0.87156	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	15.812	0.78346	387	0.83408	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1304.33	33	chr14	88870123	.	A	G	1304.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.438;DP=768;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=1.58;SOR=0.76	GT:AD:DP:GQ:PL	0/1:83,60:143:99:1318,0,1988	18	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	0.07895	4196.79	41	chr14	92652445	.	A	C	4196.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1089;ExcessHet=0.3672;FS=0.785;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.086;SOR=0.747	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1595,0,1695	16	0	3	0
chr14	94208473	94208473	A	C	exonic	PPP4R4	.	nonsynonymous SNV	PPP4R4:NM_001348145:exon3:c.A201C:p.Q67H,PPP4R4:NM_020958:exon3:c.A201C:p.Q67H,PPP4R4:NM_058237:exon3:c.A201C:p.Q67H	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.010076433821	.	0.000399361	0.0005	0	9.096e-05	0	0	7.696e-05	0	0.0031	0.0003881	60	154602	rs143912585	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0007	4.517e-05	0.0002	0.0027	7.227e-05	7.218e-05	6.427e-05	8.064e-05	0.0015	3.971e-05	3.127e-05	0.0007	0.0005	0	0	0	0	0	0	0	5.887e-05	0	0.0015	0.018	0.72154	D	0.014	0.92824	D	0.307	0.70673	B	0.077	0.69102	B	0.000001	0.84330	D	0.055986	0.901289	0.36178	D	2.045	0.56016	M	.	.	.	-1.94	0.51157	N	0.524	0.61596	-0.5878	0.65308	T	0.234	0.60063	T	9	0.014137387	0.00298	T	0.010076	0.26191	T	0.392	0.70764	0.351	0.34922	0.236278675362	0.23226	0.6647364679824963	0.66410	0.921292065219	0.71464	0.566585123539	0.48195	T	0.050815	0.28703	T	-0.325006	0.06495	T	-0.243928	0.50413	T	0.106766890816218	0.13085	T	0.933507	0.75104	D	0.16534679	0.36800	0.11476845	0.27704	0.16534679	0.36800	0.11476845	0.27704	-7.487	0.57519	T	.	.	0.609	0.73830	P	.;.	.;.	1.822798	0.23161	15.91	0.99690058079012467	0.79842	0.82456	0.41681	D	AEFI	0.187481	0.31477	N	0.0328206784815014	0.43352	2.629882	0.0405610413214541	0.41617	2.503369	0.102296844634711	0.16410	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.51	1.88	0.24630	0.556000	0.23144	0.992000	0.23199	-0.648000	0.04400	0.998000	0.41325	0.989000	0.31174	0.579000	0.30870	0.7574:0.0:0.2426:0.0	8.051	0.29736	830	0.39242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	922.33	41	chr14	94208473	.	A	C	922.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.263;DP=721;ExcessHet=0;FS=1.693;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.78;SOR=0.476	GT:AD:DP:GQ:PL	0/1:51,44:95:99:936,0,1236	18	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:91,70:161:99:1075,0,1883	1	0	17	1
chr14	100293353	100293353	C	T	exonic	SLC25A29	.	nonsynonymous SNV	SLC25A29:NM_001039355:exon3:c.G103A:p.E35K,SLC25A29:NM_001352821:exon4:c.G262A:p.E88K	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0105291055195	.	0.000199681	0.0003	0.0002	0.0004	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs200054689	0.0003	0.0003	0.0002	0.0003	0.0016	0.0003	0.0002	0.0011	0.0011	2.987e-05	0.0004	0.0005	0	0	0.0016	0.0002	0.0004	0.0013	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.214e-05	0	0.0002	0.0009	0	0	0	0.0003	0.0005	0.0010	0.629	0.05167	T	0.888	0.03152	T	0.004	0.12183	B	0.012	0.16012	B	0.000143	0.49130	D	0.175049	0.998	0.81001	D	0.145	0.08828	N	-1.19	0.78427	T	0.64	0.02368	N	0.505	0.53708	-0.9027	0.47705	T	0.089	0.34188	T	10	0.1937531	0.35157	T	0.010529	0.27174	T	0.256	0.56694	.	.	0.825103455911	0.82345	0.35199688124628303	0.35113	0.404878859785	0.41375	0.384199380875	0.22850	T	0.098247	0.40187	T	-0.337055	0.05594	T	-0.321688	0.42388	T	0.00824125809977105	0.00099	T	0.951405	0.81464	D	0.12486877	0.29286	0.095071495	0.22531	0.12486877	0.29286	0.095071495	0.22530	-9.379	0.70104	D	.	.	0.187	0.40328	B	.	.	1.570548	0.20107	14.59	0.66878686511606755	0.08188	0.96002	0.67090	D	AEFDBI	0.660901	0.63131	D	-0.142427365819903	0.35557	2.04393	-0.0873930946859149	0.35909	2.083256	0.999999984424851	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.41	4.41	0.52588	2.237000	0.42709	4.753000	0.44671	0.549000	0.26987	0.981000	0.35396	0.990000	0.31317	0.114000	0.18915	0.1709:0.8291:0.0:0.0	12.175	0.53488	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.02632	1154.33	46	chr14	100293353	.	C	T	1154.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.981;DP=828;ExcessHet=0;FS=2.53;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.21;SOR=0.46	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1168,0,1511	18	0	1	0
chr14	102084918	102084923	TTCTTT	-	exonic	HSP90AA1	.	nonframeshift deletion	HSP90AA1:NM_005348:exon5:c.739_744del:p.K247_E248del,HSP90AA1:NM_001017963:exon6:c.1105_1110del:p.K369_E370del	.	428	1092	1	0	1	2	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0143	0.00379393	0.0052	0.0015	0.0014	0.0007	0.0466	0.0030	0.0154	0.0029	0.0008068	21	26028	rs569990167	0.0026	0.0026	0.0027	0.0025	0.0024	0.0025	0.0025	0.0021	0.0020	0.0012	0.0010	0.0001	0.0008	0.0457	0.0016	0.0007	0.0027	0.0024	0.0044	0.0044	0.0028	0.0062	0.0019	0.0041	0.0040	0.0012	0.0011	0.0015	0	0.0005	0.0003	0.0008	0.0472	0	0.0012	0.0033	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	4255.29	68	chr14	102084917	.	CTTCTTT	C	4255.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.056;DP=1325;ExcessHet=0;FS=0.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.73;ReadPosRankSum=3.16;SOR=0.752	GT:AD:DP:GQ:PL	0/1:128,112:240:99:4269,0,4965	18	0	1	0
chr14	104932268	104932268	A	G	exonic	PLD4	.	nonsynonymous SNV	PLD4:NM_001308174:exon10:c.A1255G:p.I419V,PLD4:NM_138790:exon10:c.A1234G:p.I412V	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0151864559011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.61	0.07691	T	0.094	0.26429	B	0.051	0.38645	B	0.000002	0.62929	D	0.000000	0.832562	0.81001	D	1.7	0.43825	L	1.92	0.23082	T	-0.12	0.08809	N	0.268	0.30347	-1.1019	0.03869	T	0.049	0.20789	T	10	0.15568489	0.29338	T	0.015186	0.35777	T	0.056	0.15993	0.417	0.45709	0.0482279557977	0.04254	0.39519753901698995	0.39434	0.179949505686	0.20241	0.537795066833	0.44134	T	0.014806	0.12535	T	-0.196032	0.21379	T	-0.519363	0.20359	T	0.625209152698517	0.37420	D	0.778122	0.41194	T	0.049811892	0.08902	0.043252256	0.05338	0.049811892	0.08902	0.043252256	0.05338	-2.384	0.05035	T	.	.	0.137	0.31857	B	.;.;.	.;.;.	2.175871	0.27729	17.56	0.94301088453871384	0.24612	0.80168	0.39878	D	AEFDBCI	0.746676	0.68897	D	-0.335040443460642	0.27825	1.529796	-0.209727176250578	0.31186	1.762558	0.999999676262728	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.31	4.31	0.50718	3.528000	0.53279	4.273000	0.42854	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.575000	0.30772	0.9094:0.0:0.0906:0.0	8.280	0.31054	982	0.03397	.;PLD-like domain;PLD-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	33	chr14	104932268	.	A	G	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.123;DP=741;ExcessHet=0;FS=9.275;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=1.57;SOR=0.598	GT:AD:DP:GQ:PL	0/1:65,44:109:99:993,0,1769	18	0	1	0
chr14	104952746	104952746	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C2405T:p.P802L,AHNAK2:NM_138420:exon7:c.C2705T:p.P902L	.	415	1105	2	0	0	2	0.000904159	.	.	.	2369192	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0119620190942	.	0.000599042	0.0003	0.0003	0.0002	0.0001	0.0003	0.0004	0	0.0002	0.0002587	40	154602	rs200145279	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0.0003	0.0002	0	0.0001	0.0008	0.0005	0.0002	0.0002	0.0002	0.0004	0.0005	0.0005	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0003	0	0.0002	0	0.0004	0.0011	0	0.0004	0.0005	0.0002	0.369	0.11586	T	0.008	0.67890	D	0.089	0.25085	B	0.058	0.26451	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	3.4	0.05642	T	-3.29	0.65742	D	0.058	0.02964	-0.9068	0.47238	T	0.022	0.09421	T	9	0.028050005	0.00942	T	0.011962	0.30096	T	0.075	0.21907	.	.	0.0986583533028	0.09354	0.021936803455912708	0.02145	.	.	0.20126979053	0.00495	T	0.069255	0.33663	T	-0.541251	0.00329	T	-0.709269	0.05333	T	0.047794762527105	0.05106	T	0.511449	0.16356	T	0.02454578	0.01297	0.052865185	0.08793	0.02454578	0.01297	0.052865185	0.08792	-6.3	0.48722	T	.	.	0.090	0.12560	B	.	.	0.894037	0.12679	9.200	0.79011461391530502	0.12551	0.05099	0.10899	N	AEFBI	.	.	.	-1.14304781612507	0.05895	0.2699646	-1.28166048940273	0.04678	0.2212375	1.69270977658492E-4	0.05721	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.95	-1.82	0.07433	1.141000	0.31140	-0.233000	0.10659	-0.182000	0.10109	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.3807:0.0:0.497:0.1224	5.488	0.16051	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	0.001104	0.000000	0.000000	0.000000	0.000000	0.000000	0.006803	0.000000	0.02632	6887.33	91	chr14	104952746	.	G	A	6887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.69;DP=2942;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.76;MQRankSum=-11.55;QD=18.42;ReadPosRankSum=1.43;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,180:374:99:0|1:104952730_G_C:6901,0,7580:104952730	18	0	1	0
chr14	104952753	104952753	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A2398G:p.K800E,AHNAK2:NM_138420:exon7:c.A2698G:p.K900E	.	416	1105	1	0	0	1	0.000452284	.	.	.	2807594	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00449258297345	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182246230	6.843e-06	6.841e-06	5.447e-06	8.253e-06	0.0002	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	0	4.971e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.07354	T	0.087	0.40747	T	0.999	0.77913	D	0.989	0.78396	D	.	.	.	.	1	0.08975	N	1.23	0.30720	L	5.87	0.00635	T	-1.07	0.27876	N	0.116	0.10483	-0.9866	0.33445	T	0.004	0.01435	T	9	0.1456843	0.27631	T	0.004493	0.11031	T	0.031	0.07369	0.316	0.29258	0.0846915920261	0.08053	0.007429087503989813	0.00708	.	.	0.262598931789	0.05203	T	0.088592	0.38191	T	-0.292576	0.09378	T	-0.658041	0.08400	T	0.0955482738901803	0.11861	T	0.388161	0.09588	T	0.102806576	0.24296	0.044260852	0.05693	0.102806576	0.24296	0.044260852	0.05693	-7.497	0.57589	T	.	.	0.166	0.36594	B	.	.	1.289996	0.16905	12.84	0.92724370835146619	0.22223	0.01653	0.05307	N	AEFBI	.	.	.	-0.60566195533054	0.18773	0.9773562	-0.824241288838492	0.13908	0.7240319	1.18543136882902E-4	0.05269	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.63	-0.567	0.11175	-1.595000	0.02196	-7.542000	0.01135	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0932:0.3957:0.5112	6.935	0.23642	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	.	.	.	.	.	.	.	.	0.02632	6872.33	91	chr14	104952753	.	T	C	6872.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.091;DP=2948;ExcessHet=0;FS=2.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.77;MQRankSum=-11.69;QD=18.42;ReadPosRankSum=1.2;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,181:373:99:0|1:104952730_G_C:6886,0,7489:104952730	18	0	1	0
chr14	104986619	104986619	C	G	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_001364170:exon1:c.C188G:p.T63S,CLBA1:NM_174891:exon1:c.C188G:p.T63S	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00223089488347	0.0020	0.000798722	0.0017	0.0002	0.0009	0	0.0003	0.0025	0	0.0015	0.0017594	272	154602	rs184621696	0.0024	0.0024	0.0023	0.0024	0.0028	0.0023	0.0023	0.0027	0.0027	0.0003	0.0011	0.0001	2.519e-05	0.0003	0.0002	0.0028	0.0021	0.0013	0.0017	0.0017	0.0018	0.0015	0.0031	0.0015	0.0014	0.0027	0.0026	0.0004	0.0044	0.0010	0	0	0	0	0.0031	0.0009	0.0010	0.432	0.09486	T	0.404	0.14818	T	0.025	0.19245	B	0.015	0.17295	B	0.010490	0.01277	U	3.503000	1	0.08975	N	.	.	.	.	.	.	-0.75	0.21003	N	0.091	0.06990	-1.0379	0.17954	T	0.083	0.32700	T	9	0.003927797	0.00075	T	0.002231	0.04233	T	0.060	0.17295	0.11	0.02049	0.0138822411134	0.00435	0.09633637327082972	0.09565	0.120216512759	0.13538	.	.	.	0.021385	0.16665	T	-0.654471	0.00068	T	-0.717494	0.04917	T	0.00367569826498308	0.00039	T	0.335566	0.07155	T	0.07743371	0.17576	0.047421694	0.06826	0.07743371	0.17576	0.047421694	0.06826	-2.418	0.05244	T	.	.	0.097	0.15609	B	.	.	-0.010750	0.04210	1.028	0.47047833155188351	0.03816	0.04646	0.10316	N	AEFDGBCI	0.037596	0.05193	N	-0.884501285595539	0.11211	0.5397797	-0.926693178797509	0.11465	0.584254	0.999989832865708	0.51787	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.627883	0.49187	0	.	.	3.53	1.45	0.21708	0.061000	0.14242	0.223000	0.16097	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2365:0.5326:0.2308:0.0	5.043	0.13806	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3590.33	34	chr14	104986619	.	C	G	3590.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.238;DP=963;ExcessHet=0;FS=2.405;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.359;SOR=0.829	GT:AD:DP:GQ:PL	0/1:171,146:317:99:3604,0,4428	18	0	1	0
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	434.18	45	chr15	20534664	.	CT	C	434.18	.	AC=1;AF=0.028;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=1;MLEAF=0.028;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,12:30:99:0|1:20534613_C_T:446,0,675:20534613	17	0	1	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C	434.55	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=1;MLEAF=0.029;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,12:30:99:0|1:20534613_C_T:446,0,680:20534613	16	0	1	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	327.06	45	chr15	20534693	.	T	C	327.06	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=1;MLEAF=0.026;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,9:22:99:0|1:20534613_C_T:339,0,519:20534613	18	0	1	0
chr15	21439866	21439866	T	C	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon1:c.A146G:p.H49R	.	409	1111	1	0	1	2	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218844390	0.0005	0.0006	0.0004	0.0005	0.0072	0.0004	0.0004	0.0064	0.0061	0.0072	0.0016	8.036e-05	0.0009	0	0.0018	6.791e-05	0.0013	0.0017	0.0023	0.0030	0.0022	0.0023	0.0065	0.0021	0.0020	0.0058	0.0056	0.0065	0	0.0034	0	0.0008	0	0.0034	0.0002	0.0029	0.0015	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.08088	.	.	.	.	.	.	.	0.017399222	0.00371	T	.	.	.	.	.	.	.	.	.	0.0021256968797562573	0.00196	.	.	.	.	.	0.016103	0.13376	T	.	.	.	.	.	.	.	.	.	0.632737	0.24712	T	.	.	.	.	.	.	.	.	-8.47	0.64230	D	.	.	0.074	0.05145	B	.	.	1.283925	0.16839	12.80	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.415000	0.07170	-1.123000	0.06262	0.206000	0.17947	0.002000	0.15269	0.000000	0.08366	0.016000	0.10718	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3671.33	33	chr15	21439866	.	T	C	3671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.798;DP=2236;ExcessHet=0;FS=1.335;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.25;MQRankSum=-0.918;QD=6.43;ReadPosRankSum=0.574;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:440,131:571:99:0|1:21439844_C_T:3685,0,17107:21439844	18	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	0/1:177,66:243:99:1463,0,5084	0	13	3	3
chr15	22563013	22563013	C	G	exonic	HERC2	.	unknown	UNKNOWN	Mental retardation, autosomal recessive 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169471774	8.607e-06	6.198e-05	1.125e-05	6.363e-06	8.911e-06	2.52e-06	1.83e-06	2.37e-06	6.6e-07	0	0	0	0	0	0	8.911e-06	7.023e-05	0	1.265e-05	5.947e-05	2.362e-05	0	2.453e-05	0	0	.	.	0	0	0	0	0	0	0	2.453e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	120.98	10	chr15	22563013	.	C	G	120.98	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.935;DP=332;ExcessHet=0;FS=1.739;InbreedingCoeff=-0.0418;MLEAC=1;MLEAF=0.028;MQ=33.28;MQRankSum=-0.1;QD=3.56;ReadPosRankSum=-0.313;SOR=0.319	GT:AD:DP:GQ:PL	0/1:25,9:34:99:134,0,628	17	0	1	1
chr15	22607629	22607629	C	T	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.G1810A:p.V604M	.	448	1047	27	0	0	27	0.0127298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.000205736360255	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201794505	0.0074	0.0094	0.0074	0.0074	0.0123	0.0073	0.0072	0.0104	0.0102	0.0082	0.0109	0.0099	0.0047	0.0024	0.0123	0.0071	0.0079	0.0110	0.0082	0.0100	0.0085	0.0079	0.0132	0.0078	0.0077	0.0106	0.0096	0.0096	0.0266	0.0081	0.0099	0.0064	0.0019	0.0240	0.0078	0.0079	0.0132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3587.77	33	chr15	22607629	.	C	T	3587.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.2;DP=738;ExcessHet=0;FS=0.801;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=48.15;MQRankSum=-0.279;QD=24.41;ReadPosRankSum=0.343;SOR=0.824	GT:AD:DP:GQ:PL	0/1:29,37:66:99:1005,0,616	17	1	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,76:125:99:.:.:4781,1741,1885:.	0	0	19	0
chr15	24678895	24678895	G	A	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.G3028A:p.G1010R	.	421	1076	25	0	0	25	0.0114837	.	.	.	2817251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.00121404609932	0.0019	0.000599042	0.0030	9.623e-05	0.0003	0.0001	0.0100	0.0037	0.0077	0.0021	0.0028007	433	154602	rs150300590	0.0033	0.0033	0.0033	0.0033	0.0059	0.0032	0.0032	0.0043	0.0038	0.0004	0.0005	3.826e-05	2.519e-05	0.0127	0.0059	0.0033	0.0031	0.0021	0.0028	0.0028	0.0024	0.0033	0.0036	0.0026	0.0025	0.0033	0.0031	0.0006	0	0.0006	0	0	0.0129	0.0034	0.0036	0.0019	0.0017	0.002	0.72154	D	0.034	0.52727	D	0.659	0.40886	P	0.077	0.28532	B	0.821566	0.06887	N	1.112960	1	0.08975	N	1.7	0.43825	L	3.03	0.08898	T	-4.05	0.74504	D	0.412	0.45237	-0.9886	0.32953	T	0.013	0.05273	T	10	0.005661458	0.00126	T	0.001214	0.01583	T	0.125	0.34456	0.185	0.09388	0.0401082797425	0.02173	0.3499361423360902	0.34907	0.324749720298	0.34627	0.243748247623	0.03137	T	0.045521	0.27148	T	-0.470638	0.00842	T	-0.448	0.27919	T	0.0315603970527918	0.02236	T	0.427957	0.11563	T	0.20261577	0.42312	0.21881671	0.46599	0.20261577	0.42312	0.21881671	0.46598	-5.126	0.38180	T	.	.	0.761	0.75517	P	.	.	1.822394	0.23154	15.91	0.95881664859828264	0.28076	0.01531	0.05040	N	AEFDCI	0.030277	0.03017	N	-0.837060522279534	0.12370	0.6025892	-1.00978703498442	0.09570	0.4768409	0.00760291158886156	0.11504	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	1.63	-1.38	0.08554	-0.070000	0.11483	0.028000	0.13690	0.373000	0.20310	0.020000	0.19661	0.000000	0.08366	0.478000	0.28520	0.3009:0.0:0.4012:0.2979	1.76	0.02809	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	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2225.33	39	chr15	24678895	.	G	A	2225.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.954;DP=1004;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=1.11;SOR=0.662	GT:AD:DP:GQ:PL	0/1:95,81:176:99:2239,0,2605	18	0	1	0
chr15	30089711	30089711	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.C886G:p.P296A	.	480	1006	35	1	0	37	0.0180576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0027425824986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879887589	0.0003	0.0020	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	6.978e-05	9.133e-05	0.0004	5.099e-05	0.0004	0.0003	0.0002	0.0002	0.0017	0.0003	0.0016	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0.0002	0.0003	0	0.0003	0.0006	0.0006	0.227	0.18498	T	0.496	0.11335	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.93	0.51437	L	2.05	0.20664	T	-3.58	0.69118	D	0.106	0.09066	-0.9630	0.38606	T	0.029	0.12541	T	6	0.094885945	0.16906	T	0.002743	0.05665	T	.	.	.	.	0.0716867268079	0.06686	0.11248298003423093	0.11177	1.31169626058	0.83235	.	.	.	0.030108	0.21421	T	-0.314437	0.07363	T	-0.689443	0.06421	T	0.199820421397174	0.20406	T	.	.	.	0.048880808	0.08589	0.08423339	0.19361	0.048880808	0.08589	0.08423339	0.19361	-6.842	0.52871	T	.	.	0.087	0.11076	B	.	.	-0.105049	0.03612	0.711	0.83777591716518451	0.14914	0.00215	0.01220	N	AEFI	0.019229	0.00649	N	-1.00919157480949	0.08412	0.3943451	-1.25831076326989	0.05009	0.2376793	7.76039442725622E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	-2.95	0.05229	-0.155000	0.10101	-2.034000	0.04313	0.283000	0.18654	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2959:0.7041:0.0	10.425	0.43559	483	0.77230	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	321.83	36	chr15	30089711	.	C	G	321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.795;DP=662;ExcessHet=0.119;FS=3.674;InbreedingCoeff=-0.0523;MLEAC=2;MLEAF=0.053;MQ=25.47;MQRankSum=-0.325;QD=12.38;ReadPosRankSum=1.8;SOR=0.445	GT:AD:DP:GQ:PL	0/1:2,9:11:25:190,0,25	17	0	2	0
chr15	30608747	30608747	G	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.G582C:p.K194N,GOLGA8T:NM_001355469:exon8:c.G582C:p.K194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00498358048796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0019	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0006	2.753e-05	0.0002	0.0001	0	0.0005	0.0009	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.18	0.29442	T	.	.	.	.	.	.	.	.	.	.	0.993723	0.23659	N	2.48	0.72069	M	1.9	0.23486	T	-1.96	0.45404	N	0.121	0.11197	.	.	.	.	.	.	.	0.13650501	0.25972	T	0.004984	0.12566	T	.	.	.	.	0.207176502487	0.20327	0.05885526678583752	0.05826	0.0158059045702	0.01510	.	.	.	0.009285	0.08464	T	-0.296489	0.08995	T	-0.663663	0.08021	T	.	.	.	0.60444	0.22695	T	0.12715618	0.29764	0.0855234	0.19753	0.12715618	0.29764	0.0855234	0.19752	-4.597	0.32134	T	.	.	0.218	0.44758	B	.	.	0.790856	0.11611	8.201	0.9625796049736377	0.29205	0.07789	0.13786	N	AEFI	0.085690	0.17372	N	.	.	.	.	.	.	2.14335074800116E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.042000	0.12016	0.273000	0.16680	0.000000	0.17513	0.681000	0.28448	0.051000	0.21832	0.010000	0.09038	6.0E-4:0.0:0.9994:0.0	5.935	0.18398	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	52.12	72	chr15	30608747	.	G	C	52.12	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.832;DP=1462;ExcessHet=0;FS=108.898;InbreedingCoeff=-0.0563;MLEAC=1;MLEAF=0.029;MQ=41.72;MQRankSum=1.28;QD=0.52;ReadPosRankSum=1.15;SOR=7.52	GT:AD:DP:GQ:PL	0/1:80,20:103:65:65,0,1403	16	0	1	2
chr15	32968717	32968717	-	T	exonic	FMN1	.	frameshift insertion	FMN1:NM_001103184:exon4:c.2314dupA:p.R772Kfs*17,FMN1:NM_001277313:exon8:c.2983dupA:p.R995fs	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6616.29	34	chr15	32968717	.	C	CT	6616.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.094;DP=1163;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.484;SOR=0.684	GT:AD:DP:GQ:PL	0/1:241,215:456:99:6630,0,7593	18	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	303.08	34	chr15	41096253	.	G	C	303.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.902;DP=1127;ExcessHet=0.7564;FS=158.935;InbreedingCoeff=-0.1318;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.442;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,17:81:11:.:.:11,0,1762:.	14	0	4	1
chr15	43191645	43191645	T	C	exonic	CCNDBP1	.	nonsynonymous SNV	CCNDBP1:NM_012142:exon8:c.T830C:p.I277T	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.0445118252133	0.0018	0.00119808	0.0021	0.0009	0.0029	0	0	0.0031	0.0056	0.0001	0.0020569	318	154602	rs78193368	0.0021	0.0021	0.0021	0.0021	0.0298	0.0020	0.0020	0.0261	0.0247	0.0007	0.0032	0.0205	0	0.0001	0.0298	0.0018	0.0031	0.0003	0.0024	0.0024	0.0024	0.0024	0.0048	0.0022	0.0021	0.0039	0.0036	0.0003	0	0.0048	0.0196	0.0002	9.418e-05	0.0408	0.0026	0.0057	0.0002	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.977	0.73820	D	0.000003	0.62929	D	0.061085	0.992255	0.41596	D	2.675	0.78361	M	0.68	0.51952	T	-2.92	0.61129	D	0.756	0.75466	-0.5084	0.68345	T	0.271	0.64266	T	10	0.012171805	0.00263	T	0.044512	0.61527	D	0.485	0.77399	.	.	0.787488330306	0.78551	0.56531860541395	0.56458	0.684711321429	0.60236	0.607470273972	0.53957	T	0.49721	0.81917	T	-0.0530098	0.43989	T	0.152032	0.80312	D	0.0233625366792587	0.01067	T	0.89611	0.63771	D	0.59699816	0.72529	0.42116138	0.66057	0.59699816	0.72530	0.42116138	0.66057	-8.395	0.63732	D	.	.	0.447	0.62063	A	.	.	4.573703	0.72187	25.8	0.9985489717374868	0.93368	0.97514	0.75245	D	AEFBI	0.680581	0.64423	D	0.698838947571908	0.79556	7.102656	0.681039188547899	0.80941	7.412114	0.999999949269164	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	5.996000	0.70309	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	13.334	0.59947	17	0.98681	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017641	0.015152	0.024457	0.038235	0.000000	0.000000	0.000000	0.000000	0.02632	666.33	38	chr15	43191645	.	T	C	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.251;DP=755;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.286;SOR=0.368	GT:AD:DP:GQ:PL	0/1:28,26:54:99:680,0,784	18	0	1	0
chr15	45105795	45105795	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon18:c.G2182A:p.A728T,DUOX2:NM_014080:exon18:c.G2182A:p.A728T	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1465	57	0	0	57	0.0190827	.	.	YES	237177	Thyroid_dyshormonogenesis_6|not_provided|DUOX2-related_disorder|Meckel_syndrome,_type_11	MONDO:MONDO:0011792,MedGen:C1846632,OMIM:607200,Orphanet:95716|MedGen:C3661900|.|MONDO:MONDO:0014164,MedGen:C3809352,OMIM:615397,Orphanet:564	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.009	.	0.0058	0.00778754	0.0076	0.0013	0.0118	0	0.0033	0.0104	0.0033	0.0033	0.0074514	1152	154602	rs138353181	0.0078	0.0078	0.0079	0.0078	0.0159	0.0077	0.0076	0.0150	0.0146	0.0014	0.0159	0.0071	2.519e-05	0.0042	0.0121	0.0085	0.0083	0.0031	0.0072	0.0072	0.0067	0.0077	0.0218	0.0069	0.0067	0.0199	0.0191	0.0011	0	0.0218	0.0060	0.0006	0.0039	0.0102	0.0089	0.0128	0.0041	0.374	0.11406	T	0.564	0.08991	T	0.007	0.14184	B	0.002	0.06944	B	0.825073	0.06907	N	1.074620	1	0.08975	N	0.97	0.24054	L	-2.02	0.85542	D	-0.95	0.25332	N	0.038	0.01203	-1.0243	0.22311	T	0.020	0.08313	T	9	0.0038830042	0.00074	T	.	.	.	0.009	0.00846	.	.	0.593685261966	0.59046	0.12669786870932603	0.12595	0.0572892944511	0.06337	0.230289101601	0.01990	T	0.010733	0.33964	T	-0.553604	0.00277	T	-0.55371	0.16972	T	0.000279041109012629	0.00002	T	0.230377	0.03106	T	0.028533112	0.02204	0.061529506	0.11895	0.037409693	0.04789	0.06051655	0.11538	-4.698	0.33380	T	0.13918727483568746	0.15466	0.071	0.03698	B	.;.	.;.	-0.482651	0.01923	0.162	0.89768629720559379	0.19084	0.01838	0.05698	N	AEFDBI	0.063008	0.12147	N	-1.39888798881912	0.02649	0.1172741	-1.41730331490068	0.03079	0.1429207	0.029345584438846	0.13881	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.48	-3.46	0.04465	0.071000	0.14461	-2.371000	0.03838	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0:0.5971:0.1325:0.2704	9.522	0.38305	596	0.68392	.;.	.	.	.	.	rs138353181	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016113	0.005051	0.021739	0.011696	0.000000	0.025862	0.012195	0.022727	0.1053	4785.43	35	chr15	45105795	.	C	T	4785.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.76;DP=903;ExcessHet=0.7564;FS=1.252;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.15;SOR=0.621	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1334,0,1183	15	0	4	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:81,43:134:99:116,0,1822	3	0	13	3
chr15	57961253	57961253	C	A	exonic	ALDH1A2	.	nonsynonymous SNV	ALDH1A2:NM_170697:exon9:c.G1005T:p.M335I,ALDH1A2:NM_170696:exon10:c.G1179T:p.M393I,ALDH1A2:NM_003888:exon11:c.G1293T:p.M431I,ALDH1A2:NM_001206897:exon12:c.G1230T:p.M410I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00350865977453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	0.02141	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000421	0.44736	D	0.291406	0.978439	0.39461	D	-1.23	0.00807	N	2.5	0.14408	T	0.35	0.06488	N	0.182	0.27435	-0.9942	0.31512	T	0.011	0.04369	T	10	0.081566215	0.13366	T	0.003509	0.07969	T	0.090	0.26093	0.339	0.32979	0.123314135267	0.11883	0.6113178128082905	0.61063	0.407868942719	0.41631	0.526733517647	0.42575	T	0.150377	0.48982	T	-0.275364	0.11166	T	-0.633318	0.10164	T	0.609194695949554	0.36768	D	0.849815	0.53298	T	0.33623105	0.55978	0.25812125	0.51539	0.33623105	0.55978	0.25812125	0.51539	-3.76	0.20208	T	.	.	0.151	0.33458	B	.;.;.;.;.	.;.;.;.;.	2.327073	0.29806	18.24	0.82449826327593545	0.14198	0.89102	0.49369	D	AEFBI	0.505066	0.53637	D	-0.454826676065697	0.23576	1.267072	-0.143887281159116	0.33644	1.926702	0.917612298318776	0.26547	0.706298	0.61202	0	0.610034	0.51514	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	1.479000	0.35061	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1516:0.8484:0.0:0.0	13.948	0.63605	871	0.31377	.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1460.33	45	chr15	57961253	.	C	A	1460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.6;DP=784;ExcessHet=0;FS=3.552;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.631;SOR=0.409	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1474,0,1381	18	0	1	0
chr15	64819197	64819197	C	T	exonic	PIF1	.	nonsynonymous SNV	PIF1:NM_001286496:exon9:c.G1360A:p.D454N,PIF1:NM_001286497:exon9:c.G1360A:p.D454N,PIF1:NM_001286499:exon9:c.G1201A:p.D401N,PIF1:NM_025049:exon9:c.G1360A:p.D454N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715	0.0879531328616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239692299	6.883e-07	6.84e-07	1.369e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.666e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.02	0.59732	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	-2.39	0.88377	D	-4.69	0.79743	D	0.765	0.76388	0.804	0.94461	D	0.835	0.94479	D	10	0.8624225	0.85469	D	0.087953	0.75037	D	0.715	0.89877	0.615	0.74884	0.837646320389	0.83610	0.7992406541428656	0.79877	0.375287385278	0.38983	0.550806224346	0.45971	T	0.407129	0.76283	T	0.146282	0.68919	D	-0.0276525	0.68524	D	0.99825793504715	0.93644	D	0.951005	0.81304	D	0.9117403	0.92457	0.77710736	0.86852	0.9117403	0.92458	0.77710736	0.86853	-9.143	0.68613	D	.	.	0.609	0.70605	P	.;.;.	.;.;.	4.695837	0.75298	26.3	0.99910959677766809	0.98022	0.99722	0.98964	D	AEFBI	0.898348	0.84153	D	0.778854442303317	0.84767	8.380468	0.692990609942491	0.81847	7.623225	0.999999999935043	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.98	4.98	0.65679	7.632000	0.82419	5.360000	0.48398	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	0.0:1.0:0.0:0.0	16.123	0.81183	166	0.93555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	773.33	36	chr15	64819197	.	C	T	773.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=698;ExcessHet=0;FS=0.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.257;SOR=0.963	GT:AD:DP:GQ:PL	0/1:35,32:67:99:787,0,812	18	0	1	0
chr15	65411032	65411032	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon2:c.G409A:p.V137I	.	429	1084	7	2	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0463036973932	0.0012	0.000998403	0.0012	0.0004	0.0004	0.0001	0	0.0018	0.0013	0.0006	0.001229	190	154602	rs146891762	0.0018	0.0017	0.0017	0.0018	0.0035	0.0017	0.0017	0.0023	0.0020	0.0002	0.0006	0.0026	5.058e-05	3.762e-05	0.0035	0.0021	0.0015	0.0004	0.0012	0.0012	0.0013	0.0011	0.0020	0.0011	0.0010	0.0017	0.0016	0.0004	0	0.0006	0.0040	0.0002	0	0.0136	0.0020	0.0009	0.0002	0.258	0.16683	T	0.255	0.23365	T	0.067	0.23653	B	0.034	0.22546	B	0.000282	0.46274	N	0.139959	0.626104	0.30739	N	1.325	0.33218	L	-1.23	0.78860	T	0.3	0.04091	N	0.151	0.15469	-0.6982	0.60524	T	0.268	0.63950	T	10	0.005232811	0.00114	T	0.046304	0.62395	D	0.147	0.38986	.	.	0.414539908741	0.41071	0.22779327738308922	0.22694	0.0621684514235	0.06921	0.320670694113	0.13523	T	0.011509	0.10257	T	-0.513241	0.00481	T	-0.51556	0.20746	T	0.00861569397735126	0.00105	T	0.586341	0.21412	T	0.01993257	0.00535	0.03745865	0.03404	0.01993257	0.00535	0.03745865	0.03404	-3.375	0.14722	T	.	.	0.128	0.27403	B	.	.	1.133320	0.15202	11.67	0.97265750544041663	0.33112	0.24828	0.22513	N	AEFBI	0.100455	0.20198	N	-0.753864348160855	0.14528	0.724459	-0.694680912576651	0.17093	0.9073238	0.999668072718401	0.41534	0.729952	0.87565	0	0.475579	0.06741	0	0.877121	0.99996	0	0.530356	0.10902	0	.	.	4.84	1.43	0.21585	0.338000	0.19599	0.839000	0.22025	-0.852000	0.02700	0.041000	0.21027	0.996000	0.32793	0.640000	0.32422	0.0:0.5935:0.1377:0.2687	6.446	0.21075	456	0.79013	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.050000	0.000000	0.000000	0.003788	0.02632	986.33	35	chr15	65411032	.	C	T	986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.143;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=-0.492;SOR=0.719	GT:AD:DP:GQ:PL	0/1:26,36:62:99:1000,0,681	18	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	465.41	41	chr15	66326260	.	C	G	465.41	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-4.097;DP=1369;ExcessHet=2.0135;FS=270.804;InbreedingCoeff=-0.1865;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.58;SOR=10.26	GT:AD:DP:GQ:PL	0/1:72,18:90:25:25,0,1761	13	0	6	0
chr15	72661787	72661787	G	A	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon10:c.G788A:p.R263H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00278888979744	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311522620	0.0012	0.0011	0.0010	0.0015	0.0070	0.0011	0.0011	0.0040	0.0031	0.0004	0.0006	0.0072	3.603e-05	0.0009	0.0070	0.0008	0.0016	0.0031	0.0008	0.0008	0.0008	0.0009	0.0030	0.0005	0.0004	0.0005	0.0002	0	0	0	0.0121	0	0	0	0.0006	0.0106	0.0030	0.773	0.03354	T	1.0	0.01155	T	0.971	0.57185	D	0.341	0.42432	B	.	.	.	.	1	0.08975	N	0.35	0.11930	N	2.04	0.20808	T	1.44	0.00794	N	0.058	0.02964	-1.0341	0.19141	T	0.023	0.09878	T	8	0.050512522	0.04795	T	0.002789	0.05810	T	0.055	0.15663	0.293	0.25560	0.0297737177859	0.01360	0.09294919455009659	0.09226	.	.	0.717276453972	0.69650	T	6.21E-4	0.00264	T	-0.374818	0.03357	T	-0.776176	0.02571	T	0.0173157258232005	0.00471	T	0.246475	0.03619	T	0.0456387	0.07505	0.05900042	0.10998	0.0456387	0.07504	0.05900042	0.10998	-5.758	0.44207	T	.	.	0.074	0.05060	B	.	.	0.168672	0.05582	2.036	0.28646653546980633	0.01481	0.00212	0.01206	N	AEFI	0.023969	0.01412	N	-1.02293731256202	0.08129	0.3800966	-1.24470347574051	0.05210	0.2476968	7.26834690193388E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.39	-0.781	0.10412	0.056000	0.14136	-0.681000	0.07886	-0.664000	0.04342	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03846	61.6	1	chr15	72661787	.	G	A	61.6	.	AC=1;AF=0.038;AN=26;BaseQRankSum=0.967;DP=25;ExcessHet=0;FS=0;InbreedingCoeff=-0.1496;MLEAC=2;MLEAF=0.077;MQ=40;MQRankSum=0;QD=20.53;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:24:69,0,24	12	0	1	6
chr15	77037076	77037076	A	G	exonic	PSTPIP1	.	nonsynonymous SNV	PSTPIP1:NM_001321135:exon14:c.A1094G:p.D365G,PSTPIP1:NM_003978:exon15:c.A1151G:p.D384G,PSTPIP1:NM_001321136:exon16:c.A1124G:p.D375G,PSTPIP1:NM_001321137:exon16:c.A1346G:p.D449G	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Autosomal dominant	0	1495	26	1	0	28	0.00927767	.	.	.	243844	not_provided|Pyogenic_arthritis-pyoderma_gangrenosum-acne_syndrome|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0011462,MedGen:C1858361,OMIM:604416,Orphanet:69126|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.512	0.197102143378	0.0003	0.000599042	0.0012	0.0001	0.0010	0	0	0.0004	0.0023	0.0061	0.001009	156	154602	rs200771233	0.0007	0.0007	0.0005	0.0009	0.0074	0.0006	0.0006	0.0069	0.0067	2.987e-05	0.0007	3.828e-05	0	3.843e-05	0.0049	0.0002	0.0008	0.0074	0.0005	0.0005	0.0003	0.0006	0.0079	0.0004	0.0004	0.0059	0.0052	0.0002	0	0.0007	0	0	0	0	0.0003	0.0009	0.0079	0.002	0.72154	D	0.007	0.69154	D	0.947	0.53479	P	0.671	0.53151	P	0.000556	0.43413	D	0.230735	0.99997	0.58761	D	3.16	0.88528	M	-0.05	0.63403	T	-3.07	0.63554	D	0.841	0.88027	0.169	0.85387	D	0.505	0.81324	D	10	0.067043245	0.09283	T	0.197102	0.86518	D	0.512	0.79094	.	.	0.877721562804	0.87653	0.82262009739812	0.82219	0.71921379012	0.62125	0.521570205688	0.41848	T	0.393236	0.75269	T	0.0321689	0.56012	T	0.277437	0.86987	D	0.124761994766962	0.14889	T	0.891811	0.65351	D	0.3745279	0.58917	0.368516	0.62139	0.4505853	0.64078	0.4318401	0.66789	-8.872	0.66869	D	0.7812297816132029	0.86107	0.335	0.64718	B	.;.;.	.;.;.	4.447440	0.69110	25.3	0.99760944644899197	0.85091	0.92690	0.56308	D	AEFDBCI	0.635758	0.61515	D	0.571071151758307	0.71374	5.64118	0.445017314041526	0.64398	4.694024	0.999984338977367	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.491896	0.07777	0	.	.	4.48	4.48	0.53973	8.370000	0.90018	11.218000	0.89658	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.180000	0.21296	1.0:0.0:0.0:0.0	12.745	0.56650	295	0.88218	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PSTPIP1, SH3 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	0.002016	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	3065.33	34	chr15	77037076	.	A	G	3065.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.83;DP=872;ExcessHet=0;FS=5.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.175;SOR=0.465	GT:AD:DP:GQ:PL	0/1:113,132:245:99:3079,0,2820	18	0	1	0
chr15	77133260	77133260	T	G	exonic	PEAK1	.	nonsynonymous SNV	PEAK1:NM_024776:exon7:c.A3822C:p.Q1274H,PEAK1:NM_001385026:exon9:c.A3822C:p.Q1274H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00526152914903	.	0.00139776	0.0006	0	8.639e-05	0	0	2.997e-05	0.0078	0.0036	0.000511	79	154602	rs539237221	0.0003	0.0003	0.0001	0.0004	0.0037	0.0002	0.0002	0.0034	0.0032	0	0	0	0	0	0.0002	2.698e-05	0.0003	0.0037	0.0002	0.0002	3.854e-05	0.0003	0.0050	0.0001	9.23e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.137	0.25979	T	0.714	0.05452	T	0.004	0.12183	B	0.003	0.08700	B	0.006223	0.32178	N	0.344999	0.61041	0.32616	D	0.895	0.22405	L	1.54	0.30133	T	1.87	0.00472	N	0.261	0.29544	-1.0339	0.19205	T	0.035	0.14987	T	10	0.0048078	0.00102	T	0.005262	0.13433	T	0.032	0.07718	0.147	0.05039	0.123314135267	0.11883	0.5463197695345773	0.54557	0.0578034647403	0.06405	0.473163068295	0.35116	T	0.01879	0.15087	T	-0.578958	0.00196	T	-0.605882	0.12321	T	0.0208961253152574	0.00790	T	0.755524	0.37862	T	0.03768131	0.04878	0.065658145	0.13339	0.03768131	0.04878	0.065658145	0.13338	-4.162	0.26199	T	.	.	0.120	0.24867	B	.;.	.;.	1.984455	0.25210	16.68	0.95250183018503232	0.26504	0.89630	0.50218	D	AEFBI	0.338030	0.43563	N	-0.518272528677323	0.21489	1.140804	-0.347920444106239	0.26574	1.468684	0.729401781658428	0.23026	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.61	1.83	0.24279	0.375000	0.20248	0.545000	0.19369	0.665000	0.62972	0.997000	0.40164	0.999000	0.35428	0.982000	0.59238	0.1307:0.0716:0.1365:0.6612	3.656	0.07759	367	0.84523	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2077.33	36	chr15	77133260	.	T	G	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.87;DP=833;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.038;SOR=0.767	GT:AD:DP:GQ:PL	0/1:108,91:199:99:2091,0,2840	18	0	1	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	.	.	.	.	.	.	.	.	0.2632	208.08	25	chr15	77470925	.	G	C	208.08	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.769;DP=1005;ExcessHet=6.9875;FS=372.888;InbreedingCoeff=-0.3311;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.707;SOR=10.607	GT:AD:DP:GQ:PL	0/1:43,16:59:49:49,0,994	9	0	10	0
chr15	78101092	78101092	C	T	exonic	SH2D7	.	nonsynonymous SNV	SH2D7:NM_001101404:exon5:c.C839T:p.A280V	.	422	1069	31	0	0	31	0.0142923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0014	0.00459265	0.0037	0.0004	0.0004	0.0001	0	0.0024	0.0051	0.0219	0.0035963	556	154602	rs200468445	0.0033	0.0034	0.0028	0.0038	0.0198	0.0032	0.0032	0.0190	0.0187	0.0004	0.0006	0.0118	5.051e-05	0.0002	0.0104	0.0023	0.0034	0.0198	0.0022	0.0022	0.0022	0.0022	0.0234	0.0020	0.0019	0.0199	0.0186	0.0003	0	0.0006	0.0127	0	0	0	0.0022	0.0019	0.0234	0.097	0.52492	T	0.283	0.21478	T	0.004	0.12183	B	0.006	0.12133	B	0.751469	0.09696	N	0.851362	1	0.08975	N	0.69	0.16971	N	1.48	0.31731	T	-1.67	0.39887	N	0.095	0.08646	-1.0113	0.26510	T	0.043	0.18659	T	10	0.0025669634	0.00039	T	.	.	.	0.011	0.01250	.	.	0.171388866994	0.16791	0.1341926991318437	0.13343	0.0383945426521	0.04090	0.337400346994	0.16049	T	0.002204	0.01604	T	-0.652509	0.00070	T	-0.69578	0.06060	T	0.00164904436769683	0.00017	T	0.510149	0.16261	T	0.060825747	0.12525	0.06729291	0.13903	0.060825747	0.12525	0.06729291	0.13902	-4.203	0.26795	T	.	.	0.133	0.28778	B	.;.	.;.	0.414932	0.07859	4.555	0.82195784847801401	0.14067	0.01596	0.05182	N	AEFDBI	0.083645	0.16947	N	-0.843033345769593	0.12221	0.5944259	-0.817332930343311	0.14075	0.733599	0.987545939951446	0.31289	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.96	0.751	0.17541	-0.666000	0.05380	-0.847000	0.07194	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.772000	0.36596	0.0:0.5467:0.1638:0.2895	4.752	0.12440	790	0.46189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.000000	0.000000	0.017544	0.000000	0.000000	0.039634	0.022727	0.05263	2395.83	33	chr15	78101092	.	C	T	2395.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.44;DP=765;ExcessHet=0.119;FS=2.679;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.496;SOR=0.824	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1407,0,1009	17	0	2	0
chr15	81358458	81358458	T	C	exonic	TMC3	.	nonsynonymous SNV	TMC3:NM_001080532:exon6:c.A544G:p.I182V	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0101423156405	.	0.000798722	0.0005	0	0	0	0	0	0	0.0038	0.0004075	63	154602	rs565461129	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	2.52e-05	0	0.0002	2.699e-06	0.0002	0.0031	0.0002	0.0002	6.426e-05	0.0002	0.0046	0.0001	8.715e-05	0.0031	0.0026	2.407e-05	0	0	0	0	0	0	0	0	0.0046	0.667	0.04616	T	0.576	0.08746	T	0.584	0.38894	P	0.351	0.42849	B	0.000007	0.62929	N	0.063133	0.999994	0.58761	D	0.95	0.23787	L	0.79	0.49068	T	0.18	0.05035	N	0.183	0.19861	-1.0940	0.04899	T	0.077	0.30889	T	10	0.0056450665	0.00125	T	0.010142	0.26324	T	0.076	0.22200	0.246	0.18139	0.0806252709748	0.07271	0.430933855435481	0.43010	0.136959586002	0.15447	0.558105826378	0.47000	T	0.007165	0.06585	T	-0.504218	0.00541	T	-0.499472	0.22403	T	0.0797025465210925	0.09948	T	0.853415	0.53896	D	0.052974463	0.09959	0.06761903	0.14014	0.052974463	0.09959	0.06761903	0.14014	-5.941	0.45783	T	.	.	0.123	0.25850	B	.;.	.;.	2.731822	0.35759	19.98	0.96741856695907269	0.30928	0.91609	0.53886	D	AEFDBI	0.656149	0.62824	D	-0.121045062413974	0.36477	2.108983	-0.0135516491115168	0.39102	2.31341	0.996778203983109	0.34998	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.21	4.1	0.47196	3.464000	0.52821	2.703000	0.34176	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0742:0.0:0.9258	10.753	0.45418	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1409.33	34	chr15	81358458	.	T	C	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.031;DP=730;ExcessHet=0;FS=3.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.825;SOR=1.093	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1423,0,1572	18	0	1	0
chr15	81374038	81374038	G	A	exonic	TMC3	.	nonsynonymous SNV	TMC3:NM_001080532:exon1:c.C40T:p.R14W	.	428	1093	1	0	0	1	0.000457247	.	.	.	3620187	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0847276795651	0.0002	0.000199681	8.524e-05	0.0002	0.0002	0	0.0002	4.577e-05	0.0012	6.421e-05	7.76e-05	12	154602	rs181224593	8.21e-05	8.209e-05	8.577e-05	7.84e-05	0.0009	7.003e-05	6.553e-05	0.0003	0.0002	0.0004	0.0002	0	0.0001	0.0003	0.0009	5.936e-05	6.626e-05	4.64e-05	9.854e-05	9.844e-05	0.0001	9.402e-05	0.0002	6.005e-05	4.879e-05	7.879e-05	5.58e-05	0.0002	0	0	0	0.0002	0.0002	0.0034	5.88e-05	0	0	0.001	0.78490	D	0.005	0.72224	D	0.996	0.68779	D	0.549	0.49194	P	0.138683	0.18369	N	0.391782	0.595653	0.30983	N	1.61	0.41143	L	-0.35	0.68616	T	-2.68	0.57275	D	0.153	0.15749	-0.6023	0.64722	T	0.220	0.58345	T	10	0.09873971	0.17872	T	0.084728	0.74387	D	0.165	0.42395	.	.	0.238096912614	0.23440	0.7102122934410243	0.70963	0.576793255271	0.53631	0.476382553577	0.35559	T	0.131173	0.46050	T	-0.258936	0.13024	T	-0.325006	0.42024	T	0.152851969003677	0.17328	T	0.735426	0.35200	T	0.12290649	0.28872	0.14967941	0.35332	0.12290649	0.28872	0.14967941	0.35331	-7.966	0.60838	D	.	.	0.126	0.34602	B	.;.	.;.	3.862525	0.56023	23.7	0.99707144052445773	0.81074	0.40608	0.26474	N	AEFBI	0.305973	0.41325	N	-0.136772803086951	0.35800	2.060922	-0.205369155197723	0.31343	1.772884	0.698097264620876	0.22664	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.38	1.12	0.19700	0.668000	0.24808	2.425000	0.32705	-0.781000	0.03322	0.996000	0.39380	1.000000	0.68203	0.204000	0.22012	0.0:0.1786:0.4538:0.3676	6.593	0.21849	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1021.33	33	chr15	81374038	.	G	A	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.11;DP=700;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.208;SOR=0.577	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1035,0,1006	18	0	1	0
chr15	82345004	82345025	ATAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2917	2625.15	3	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACG	*	2625.15	.	AC=7;AF=0.292;AN=24;BaseQRankSum=1.52;DP=1417;ExcessHet=3.7519;FS=10.225;InbreedingCoeff=-0.2602;MLEAC=9;MLEAF=0.375;MQ=46.78;MQRankSum=-7.03;QD=3.01;ReadPosRankSum=0.846;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,0:1:5:1|1:82344984_CAGCCTCTCCTCCTGTTCACAT_C:240,17,0:82344984	6	1	5	7
chr15	82345048	82345110	AGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_812del:p.C251_L271del,GOLGA6L10:NM_001322400:exon6:c.750_812del:p.R251_L271del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0187	0	0.125	0	0	0.0196	0	0	.	.	.	.	2.918e-05	0.0002	3.323e-05	2.504e-05	0.0001	2.081e-05	1.831e-05	4.043e-05	2.092e-05	0.0001	0	4.933e-05	0.0001	0	0	2.566e-05	6.641e-05	0	0.0001	0.0004	9.418e-05	0.0001	0.0003	6.737e-05	5.41e-05	7.93e-05	5.856e-05	0	0	0.0002	0	0	0.0002	0	0.0002	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	106.96	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=1;MLEAF=0.028;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,10:98:99:0|1:82344984_CAGCCTCTCCTCCTGTTCACAT_C:119,0,3470:82344984	17	0	1	1
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1637.45	111	chr15	82345087	.	C	*	1637.45	.	AC=10;AF=0.263;AN=38;BaseQRankSum=3.81;DP=2350;ExcessHet=13.8672;FS=0.585;InbreedingCoeff=-0.5406;MLEAC=10;MLEAF=0.263;MQ=41.11;MQRankSum=-2.282;QD=1.5;ReadPosRankSum=-2.685;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,10:98:99:0|1:82344984_CAGCCTCTCCTCCTGTTCACAT_C:119,0,3470:82344984	9	0	10	0
chr15	82787114	82787114	C	T	exonic	FSD2	.	nonsynonymous SNV	FSD2:NM_001007122:exon2:c.G277A:p.E93K,FSD2:NM_001281806:exon2:c.G277A:p.E93K,FSD2:NM_001281805:exon3:c.G277A:p.E93K	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	8.2e-05	0.00638978	0.0036	0.0001	0.0002	0	0	4.495e-05	0.0033	0.0255	0.0030918	478	154602	rs201575973	0.0014	0.0014	0.0008	0.0021	0.0229	0.0014	0.0014	0.0220	0.0217	8.961e-05	0	0	0	0	0.0019	5.396e-06	0.0015	0.0229	0.0008	0.0008	0.0004	0.0013	0.0253	0.0007	0.0007	0.0216	0.0203	7.215e-05	0	6.538e-05	0	0.0002	0	0	1.47e-05	0	0.0253	0.212	0.27783	T	0.337	0.31730	T	0.501	0.37169	P	0.202	0.36942	B	0.053057	0.22841	N	0.316724	1	0.08975	N	1.87	0.49600	L	0.9	0.45248	T	-2.4	0.52776	N	0.234	0.31365	-1.0449	0.15854	T	0.093	0.35363	T	10	0.0027678907	0.00043	T	.	.	.	0.036	0.09122	.	.	0.203808441222	0.19973	0.4523403363542117	0.45152	0.0545671830146	0.06037	0.334883749485	0.15670	T	0.035207	0.23629	T	-0.505279	0.00534	T	-0.480321	0.24412	T	0.0346434935927391	0.02747	T	0.739426	0.35812	T	0.1765378	0.38571	0.17556801	0.40031	0.1765378	0.38571	0.17556801	0.40030	-5.048	0.37357	T	.	.	0.073	0.13221	B	.;.;.	.;.;.	2.023232	0.25711	16.86	0.99087866288177762	0.52124	0.30870	0.24193	N	AEFDBCI	0.165017	0.29147	N	-0.389236175216186	0.25851	1.40643	-0.416633826151027	0.24509	1.342485	0.923434720178373	0.26743	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.56	3.64	0.40864	2.490000	0.44953	2.438000	0.32760	0.580000	0.29708	0.036000	0.20778	0.179000	0.23406	0.908000	0.44358	0.0:0.9164:0.0:0.0836	12.034	0.52712	502	0.75873	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.02632	1915.33	41	chr15	82787114	.	C	T	1915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.142;DP=800;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.15;SOR=0.589	GT:AD:DP:GQ:PL	0/1:79,74:153:99:1929,0,2132	18	0	1	0
chr15	83257701	83257701	C	G	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001301206:exon5:c.G2705C:p.C902S,BNC1:NM_001717:exon5:c.G2726C:p.C909S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00688883652619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.588	0.05844	T	0.425	0.14116	T	0.915	0.50599	P	0.3	0.41660	B	0.000382	0.44960	D	0.243493	0.994199	0.42194	D	1.7	0.43825	L	1.05	0.39990	T	-0.76	0.21215	N	0.435	0.51494	-1.0632	0.10974	T	0.070	0.28740	T	10	0.29841137	0.47398	T	0.006889	0.18233	T	0.206	0.49396	0.583	0.70990	0.594201505739	0.59098	0.37473361655210036	0.37387	0.176531369317	0.19871	0.551101207733	0.46012	T	0.098968	0.40332	T	0.127	0.67078	D	-0.055206	0.66665	D	0.288714289665222	0.24536	T	0.564644	0.19916	T	0.071987584	0.15978	0.08596866	0.19886	0.071987584	0.15978	0.08596866	0.19885	-0.687	0.00711	T	.	.	0.122	0.39545	B	.;.	.;.	2.837091	0.37416	20.5	0.88767782459583278	0.18240	0.97377	0.74364	D	AEFBI	0.443772	0.50094	N	0.159483312687534	0.49262	3.128549	0.26076361657853	0.53264	3.496192	0.673554708822221	0.22401	0.706548	0.73137	0	0.563428	0.19063	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	2.062000	0.41039	5.684000	0.49308	0.599000	0.40250	0.949000	0.33028	1.000000	0.68203	0.998000	0.85391	0.1524:0.7722:0.0:0.0754	8.644	0.33158	428	0.80967	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2047.33	44	chr15	83257701	.	C	G	2047.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.261;DP=830;ExcessHet=0;FS=2.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-3.373;SOR=0.916	GT:AD:DP:GQ:PL	0/1:104,81:185:99:2061,0,2835	18	0	1	0
chr15	83284580	83284580	G	C	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001717:exon1:c.C49G:p.R17G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.206026060096	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307252375	2.099e-05	2.941e-05	2.078e-05	2.122e-05	0.0009	1.342e-05	1.081e-05	0.0006	0.0005	0	0	0	0	0	0	1.235e-06	3.171e-05	0.0009	3.394e-05	3.305e-05	2.648e-05	4.178e-05	0.0008	1.292e-05	8.21e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.511e-05	0	0.0008	0.666	0.04616	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	0.450197	0.04810	N	1.669390	1	0.08975	N	0	0.06538	N	0.84	0.47477	T	0.47	0.03090	N	0.057	0.02861	-1.0270	0.21429	T	0.057	0.24018	T	10	0.030584633	0.01186	T	0.206026	0.87017	D	0.034	0.08419	0.204	0.11936	0.0675242888579	0.06100	0.4139296161877739	0.41308	1.2529535883	0.81851	0.821463167667	0.85252	D	0.063039	0.32073	T	-0.289917	0.09645	T	-0.654222	0.08660	T	0.107816176928957	0.13195	T	0.217978	0.02763	T	0.07745538	0.17582	0.0787553	0.17669	0.07745538	0.17581	0.0787553	0.17669	-3.364	0.14576	T	.	.	0.071	0.03887	B	.	.	1.423294	0.18405	13.72	0.78460560558492998	0.12311	0.00199	0.01145	N	AEFDBCI	0.017558	0.00468	N	-1.67407945925556	0.00938	0.04061386	-1.6727029212958	0.01263	0.05693592	0.999998778097022	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.638787	0.57140	0	.	.	2.02	-0.37	0.11906	-0.666000	0.05380	-0.336000	0.09852	-0.531000	0.04959	0.000000	0.06391	0.001000	0.17328	0.794000	0.37478	0.0:0.5113:0.4887:0.0	8.095	0.29983	436	0.80373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	101.59	9	chr15	83284580	.	G	C	101.59	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.706;DP=209;ExcessHet=0;FS=0;InbreedingCoeff=-0.0437;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.398;SOR=0.693	GT:AD:DP:GQ:PL	0/1:5,5:10:99:115,0,125	18	0	1	0
chr15	84512057	84512057	C	T	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433658785	0.0008	0.0008	0.0008	0.0008	0.0108	0.0008	0.0007	0.0098	0.0095	0	0	0	0.0108	0	0	1.861e-05	0.0007	0.0002	0.0004	0.0002	0.0004	0.0004	0.0095	0.0003	0.0002	0.0055	0.0043	0	0	0	0	0.0095	0	0	6.207e-05	0.0069	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	82.98	7	chr15	84512057	.	C	T	82.98	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.126;DP=107;ExcessHet=0;FS=0;InbreedingCoeff=-0.0644;MLEAC=1;MLEAF=0.026;MQ=37.51;MQRankSum=0.674;QD=13.83;ReadPosRankSum=-1.96;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:91:96,0,91	18	0	1	0
chr15	84512764	84512764	T	A	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	529	990	3	0	0	3	0.00151286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1182290548	0.0003	0.0008	0.0002	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	7.533e-05	0.0003	0	0	0.0003	2.644e-05	0.0004	0.0041	0.0001	0.0003	0.0001	0.0002	0.0031	8.333e-05	6.742e-05	0.0017	0.0013	0	0	0	0.0008	0	0	0	4.021e-05	0.0007	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	159.83	43	chr15	84512764	.	T	A	159.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.933;DP=677;ExcessHet=0.119;FS=4.553;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=37.9;MQRankSum=0.379;QD=2.19;ReadPosRankSum=0.16;SOR=1.408	GT:AD:DP:GQ:PL	0/1:36,5:41:32:32,0,1093	17	0	2	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	635.01	117	chr15	88530840	.	T	C	635.01	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.068;DP=1914;ExcessHet=2.9153;FS=131.31;InbreedingCoeff=-0.2406;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=0.803;SOR=11.121	GT:AD:DP:GQ:PL	0/1:72,21:93:99:213,0,1766	11	0	7	1
chr15	88845663	88845663	A	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon7:c.A1210G:p.I404V,ACAN:NM_001369268:exon7:c.A1210G:p.I404V,ACAN:NM_013227:exon7:c.A1210G:p.I404V	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1493	28	1	0	30	0.00994695	.	.	.	1196137	not_specified|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|not_provided	MedGen:CN169374|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.024	.	7.7e-05	0.0267572	0.0152	0.0001	0.0009	0.0124	0	0.0002	0.0178	0.1022	0.0133569	2065	154602	rs148070768	0.0065	0.0065	0.0039	0.0091	0.0968	0.0063	0.0063	0.0950	0.0943	0.0001	0.0004	0	0.0067	0	0.0035	0.0002	0.0097	0.0968	0.0042	0.0042	0.0027	0.0058	0.1082	0.0039	0.0038	0.1006	0.0975	0.0005	0	0.0005	0	0.0149	0	0	0.0001	0.0014	0.1082	0.243	0.17761	T	1.0	0.06643	T	0.0	0.02946	B	0.0	0.01387	B	0.284555	0.03855	N	1.691170	1	0.08975	N	0.83	0.20963	L	4.71	0.06291	T	-0.3	0.11913	N	0.037	0.02964	-0.9114	0.46682	T	0.004	0.01261	T	10	0.0017319918	0.00022	T	.	.	.	0.024	0.04979	.	.	.	.	0.35669920752929657	0.35583	0.163701473384	0.18462	0.282205790281	0.07802	T	0.095098	0.39551	T	-0.716182	0.00029	T	-0.787243	0.02241	T	0.000911843834536322	0.00009	T	0.567243	0.20674	T	0.041423783	0.06096	0.047140528	0.06726	0.044479884	0.07116	0.047140528	0.06726	-2.227	0.04173	T	0.12550148330874186	0.12498	0.129	0.27493	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.842136	0.01027	0.043	0.47514820808408115	0.03891	0.01218	0.04323	N	AEFDBI	0.026517	0.02006	N	-1.12570016169177	0.06189	0.2842374	-1.17513049505909	0.06327	0.3042367	0.0870381725852015	0.16024	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.19	-3.01	0.05132	-0.086000	0.11198	-1.744000	0.04806	-0.053000	0.16966	0.319000	0.25494	0.000000	0.08366	0.078000	0.17132	0.2754:0.1592:0.4103:0.1551	2.168	0.03608	969	0.06854	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.000000	0.000000	0.011696	0.050000	0.008621	0.012195	0.041667	0.02632	2016.33	33	chr15	88845663	.	A	G	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.487;DP=807;ExcessHet=0;FS=4.265;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.27;SOR=1.002	GT:AD:DP:GQ:PL	0/1:94,88:182:99:2030,0,2441	18	0	1	0
chr15	88849458	88849458	C	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.C1753A:p.R585S,ACAN:NM_001369268:exon10:c.C1753A:p.R585S,ACAN:NM_013227:exon10:c.C1753A:p.R585S	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	1	1493	27	1	0	29	0.00961857	.	.	.	1196140	Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|not_provided	MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	.	0.0269569	0.0191	0.0002	0.0010	0.0147	0.0002	0.0002	0.0227	0.1549	0.013027	2014	154602	rs144501729	0.0064	0.0065	0.0038	0.0091	0.0975	0.0063	0.0063	0.0957	0.0950	0.0002	0.0004	0	0.0066	5.731e-05	0.0034	0.0002	0.0092	0.0975	0.0041	0.0041	0.0026	0.0057	0.1071	0.0038	0.0037	0.0995	0.0965	0.0005	0	0.0005	0	0.0135	9.409e-05	0	0.0001	0.0014	0.1071	0.2	0.23450	T	0.993	0.09457	T	0.003	0.11197	B	0.01	0.14941	B	0.157313	0.17773	N	0.320773	1	0.08975	N	-0.245	0.03879	N	3.21	0.07125	T	-2.86	0.62630	D	0.219	0.31027	-0.9616	0.38877	T	0.008	0.02760	T	10	0.0015206337	0.00017	T	.	.	.	0.084	0.24469	.	.	.	.	0.3371614835293057	0.33629	0.222995365461	0.24826	0.350890189409	0.18053	T	0.082465	0.36833	T	-0.658143	0.00064	T	-0.640676	0.09620	T	0.0262152418393855	0.01435	T	0.215178	0.05801	T	0.29870522	0.52788	0.28842452	0.54859	0.3480815	0.56917	0.28842452	0.54858	-4.164	0.26228	T	0.1278163035417712	0.13149	0.388	0.60789	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.550133	0.33007	19.21	0.97284759840530921	0.33200	0.19452	0.20666	N	AEFDBI	0.306490	0.41362	N	-0.846953672655053	0.12124	0.5891365	-0.724503995040523	0.16352	0.8645878	0.832684827162608	0.24721	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	4.19	0.48645	0.915000	0.28260	2.769000	0.34658	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.873000	0.41610	0.1471:0.8529:0.0:0.0	14.545	0.67609	966	0.07191	Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link 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	0.012652	0.000000	0.000000	0.014706	0.050000	0.008621	0.009259	0.041667	0.02632	1264.33	49	chr15	88849458	.	C	A	1264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=734;ExcessHet=0;FS=5.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.146;SOR=1.213	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1278,0,1335	18	0	1	0
chr15	88849587	88849587	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon10:c.G1882A:p.A628T,ACAN:NM_001369268:exon10:c.G1882A:p.A628T,ACAN:NM_013227:exon10:c.G1882A:p.A628T	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1494	27	1	0	29	0.0096122	.	.	.	1196141	Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans|not_provided|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type	MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262|MedGen:C3661900|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.147	.	8.2e-05	0.0267572	0.0197	0.0002	0.0009	0.0136	0	0.0002	0.0252	0.1124	0.0132081	2042	154602	rs200412974	0.0065	0.0065	0.0039	0.0091	0.0979	0.0064	0.0063	0.0962	0.0955	0.0001	0.0004	0	0.0065	0	0.0035	0.0002	0.0094	0.0979	0.0041	0.0041	0.0026	0.0057	0.1074	0.0038	0.0037	0.0997	0.0967	0.0005	0	0.0005	0	0.0133	0	0	0.0001	0.0014	0.1074	0.001	0.78490	D	0.219	0.37037	T	0.839	0.46454	P	0.54	0.48825	P	0.104549	0.19698	N	0.269330	0.772677	0.34170	D	.	.	.	2.85	0.10578	T	-2.73	0.58085	D	0.245	0.40063	-0.9659	0.38033	T	0.057	0.24092	T	10	0.0042779446	0.00086	T	.	.	.	0.147	0.38986	.	.	.	.	0.46768654305253654	0.46687	0.191107692456	0.21433	0.284922510386	0.08188	T	0.095092	0.39551	T	-0.482483	0.00715	T	-0.45155	0.27525	T	0.0876491242202929	0.10937	T	0.89531	0.63576	D	0.3168548	0.54373	0.39760146	0.64370	0.23576613	0.46417	0.39760146	0.64370	-7.55	0.57961	D	0.12764837360086825	0.13104	0.160	0.35267	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.544704	0.32927	19.19	0.99676016819602753	0.78912	0.58370	0.30624	D	AEFDBCI	0.195391	0.32243	N	0.158728002653882	0.49225	3.125372	0.0978900643823193	0.44442	2.725943	0.0515967608160388	0.14878	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.11	1.99	0.25423	0.276000	0.18478	1.680000	0.28007	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.4181:0.5819	13.965	0.63714	966	0.07191	Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain|Link 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	0.013092	0.000000	0.002717	0.011696	0.050000	0.008621	0.012195	0.041667	0.02632	2526.33	41	chr15	88849587	.	G	A	2526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=974;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.154;SOR=0.637	GT:AD:DP:GQ:PL	0/1:102,93:195:99:2540,0,2708	18	0	1	0
chr15	88856945	88856945	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G4360A:p.G1454R,ACAN:NM_001369268:exon12:c.G4360A:p.G1454R,ACAN:NM_013227:exon12:c.G4360A:p.G1454R	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.158047666365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209165088	6.844e-07	6.841e-07	0	1.376e-06	2.991e-05	0	0	.	.	2.991e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.187	0.43344	T	.	.	.	.	.	.	.	.	.	.	0.967934	0.25825	N	.	.	.	-4.21	0.96957	D	-1.03	0.28290	N	0.186	0.39153	0.574	0.91550	D	0.924	0.97500	D	9	0.24203914	0.41393	T	0.158048	0.83852	D	0.502	0.78475	0.181	0.08877	0.043077524339	0.03247	0.15357518226032968	0.15279	0.850610521989	0.68517	0.474797993898	0.35341	T	.	.	.	0.163677	0.70541	D	-0.00266642	0.70163	D	0.818023800849915	0.47626	D	0.725127	0.35154	T	0.10739421	0.25395	0.107073516	0.25770	0.10739421	0.25395	0.107073516	0.25770	-8.311	0.67122	D	0.12630084985918852	0.12725	0.394	0.59239	A	.;.;.;.;.;.	.;.;.;.;.;.	3.077169	0.41385	21.3	0.99806744434806627	0.89085	0.07410	0.13430	N	AEFBI	0.211773	0.33753	N	-0.170160803009139	0.34381	1.961684	-0.378251558485331	0.25646	1.41168	0.327645485793053	0.19451	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.53	2.6	0.30173	3.687000	0.54423	3.277000	0.37202	0.347000	0.19874	0.373000	0.25949	0.225000	0.23742	0.021000	0.11733	0.124:0.0:0.876:0.0	7.761	0.28118	968	0.07033	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4599.33	182	chr15	88856945	.	G	A	4599.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=3253;ExcessHet=0;FS=3.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.56;MQRankSum=0.201;QD=12.67;ReadPosRankSum=0.415;SOR=0.542	GT:AD:DP:GQ:PL	0/1:181,182:363:99:4613,0,4417	18	0	1	0
chr15	88857732	88857732	G	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5147T:p.S1716I,ACAN:NM_001369268:exon12:c.G5147T:p.S1716I,ACAN:NM_013227:exon12:c.G5147T:p.S1716I	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1492	29	1	0	31	0.0102819	.	.	.	1196144	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.164	.	8.2e-05	0.0295527	0.0163	0.0003	0.0009	0.0205	0	0.0002	0.0189	0.1060	0.0144241	2230	154602	rs79925540	0.0070	0.0070	0.0044	0.0098	0.1001	0.0069	0.0069	0.0983	0.0976	0.0004	0.0004	0	0.0184	0	0.0038	0.0002	0.0111	0.1001	0.0047	0.0047	0.0031	0.0064	0.1106	0.0044	0.0043	0.1028	0.0997	0.0006	0	0.0005	0	0.0268	0	0	0.0001	0.0014	0.1106	0.0	0.91255	D	0.415	0.24694	T	.	.	.	.	.	.	0.001881	0.37789	N	0.000000	0.874614	0.35629	D	.	.	.	3.55	0.04746	T	-3.94	0.73684	D	0.15	0.45331	-1.0639	0.10807	T	0.022	0.09238	T	10	0.00233683	0.00034	T	.	.	.	0.164	0.42212	.	.	.	.	0.7197601509944354	0.71919	0.836619254689	0.67844	0.507168650627	0.39826	T	.	.	.	-0.404933	0.02149	T	-0.331438	0.41309	T	0.0535739177832831	0.06117	T	0.824218	0.49484	T	0.6429832	0.74990	0.585032	0.75937	0.6574989	0.75766	0.585032	0.75938	-8.981	0.67575	D	0.12465354892255805	0.12266	0.315	0.54123	B	.;.;.;.;.;.	.;.;.;.;.;.	3.917389	0.57168	23.8	0.99638083251245502	0.76449	0.98419	0.82582	D	AEFBI	0.654281	0.62702	D	0.730866682522821	0.81658	7.573601	0.68133681451556	0.80966	7.417242	0.970230948880462	0.29192	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.86	4.92	0.64147	4.255000	0.58595	8.457000	0.77235	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1389:0.8611:0.0	15.501	0.75431	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.000000	0.000000	0.014620	0.050000	0.008621	0.009146	0.045455	0.02632	2066.33	126	chr15	88857732	.	G	T	2066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=2374;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.253;SOR=0.814	GT:AD:DP:GQ:PL	0/1:69,69:138:99:2080,0,2046	18	0	1	0
chr15	88858385	88858385	G	C	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5800C:p.V1934L,ACAN:NM_001369268:exon12:c.G5800C:p.V1934L,ACAN:NM_013227:exon12:c.G5800C:p.V1934L	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1492	29	1	0	31	0.0102819	.	.	.	1196146	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.121	.	.	0.0303514	0.0164	0.0003	0.0009	0.0216	0	0.0002	0.0189	0.1061	0.0145276	2246	154602	rs76282091	0.0071	0.0071	0.0044	0.0098	0.1002	0.0069	0.0069	0.0984	0.0977	0.0004	0.0004	0	0.0188	0	0.0038	0.0002	0.0111	0.1002	0.0047	0.0047	0.0031	0.0064	0.1095	0.0044	0.0043	0.1018	0.0987	0.0006	0	0.0005	0	0.0284	0	0	0.0001	0.0014	0.1095	0.016	0.59928	D	0.057	0.46406	T	.	.	.	.	.	.	0.147168	0.18089	N	0.300241	1	0.08975	N	.	.	.	4.2	0.03354	T	-1.96	0.45404	N	0.117	0.17553	-1.1006	0.04020	T	0.008	0.02926	T	10	0.0016039312	0.00019	T	.	.	.	0.121	0.33580	.	.	.	.	0.29420148835687954	0.29333	0.485768874065	0.47451	0.327430605888	0.14546	T	.	.	.	-0.580975	0.00190	T	-0.584309	0.14162	T	0.0615173059497363	0.07405	T	0.853715	0.55479	D	0.13021646	0.30391	0.13735288	0.32833	0.13426939	0.31202	0.13735288	0.32832	-6.254	0.51410	T	0.12705327745958234	0.12940	0.369	0.59522	A	.;.;.;.;.;.	.;.;.;.;.;.	0.844045	0.12159	8.707	0.88342601587151715	0.17902	0.12361	0.17221	N	AEFBI	0.092211	0.18671	N	-0.470338000125133	0.23056	1.235475	-0.666502628490601	0.17801	0.9481311	0.0137201645894468	0.12501	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	-3.18	0.04867	0.054000	0.14087	-0.161000	0.11322	-0.113000	0.14837	0.007000	0.17678	0.000000	0.08366	0.702000	0.34203	0.4936:0.0:0.5064:0.0	12.503	0.55307	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.000000	0.011696	0.050000	0.008621	0.009146	0.041667	0.02632	2111.33	85	chr15	88858385	.	G	C	2111.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.16;DP=1543;ExcessHet=0;FS=3.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=0.99;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,71:128:99:1|0:88858384_T_G:2125,0,2173:88858384	18	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,26:55:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:2355,1192,1107:89776889	8	2	9	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,29:55:99:1|1:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1400,104,0:89776889	1	15	1	2
chr15	94470347	94470347	C	T	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385010:exon18:c.C1712T:p.T571M,MCTP2:NM_001385004:exon19:c.C2210T:p.T737M,MCTP2:NM_001159643:exon20:c.C2210T:p.T737M,MCTP2:NM_001385005:exon20:c.C2333T:p.T778M,MCTP2:NM_001385006:exon20:c.C2252T:p.T751M,MCTP2:NM_001385009:exon20:c.C1877T:p.T626M,MCTP2:NM_001385001:exon21:c.C2375T:p.T792M,MCTP2:NM_001385003:exon21:c.C2375T:p.T792M,MCTP2:NM_001385002:exon22:c.C2375T:p.T792M,MCTP2:NM_018349:exon22:c.C2375T:p.T792M,MCTP2:NM_001385007:exon23:c.C2093T:p.T698M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.0912683341171	.	.	4.119e-05	0	8.642e-05	0.0001	0	4.496e-05	0	0	3.88e-05	6	154602	rs570221748	1.781e-05	2.052e-05	1.636e-05	1.927e-05	0.0002	1.239e-05	1.053e-05	2.996e-05	2.038e-05	0	4.473e-05	0	5.04e-05	0	0.0002	1.171e-05	3.315e-05	6.96e-05	1.972e-05	1.97e-05	0	4.036e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.97	0.76916	D	0.000005	0.62929	D	0.109289	0.999969	0.52935	D	3.2	0.89116	M	-0.35	0.68616	T	-4.31	0.78222	D	0.684	0.72120	0.002	0.82291	D	0.484	0.80301	T	10	0.7336463	0.74470	D	0.091268	0.75675	D	0.443	0.74588	0.479	0.55823	0.53104733087	0.52752	0.6654961884117682	0.66486	0.154882509621	0.17493	0.616541564465	0.55240	T	0.287151	0.65995	T	0.0515494	0.58543	T	0.0619725	0.74375	D	0.893883228302002	0.54518	D	0.990041	0.96927	D	0.45788476	0.64539	0.5042652	0.71345	0.45788476	0.64540	0.5042652	0.71345	-11.019	0.84443	D	.	.	0.330	0.55208	B	.;.	.;.	4.740843	0.76452	26.5	0.99885545256151553	0.96049	0.97902	0.77993	D	AEFI	0.814661	0.73683	D	0.814074181744828	0.86979	9.06216	0.778680703644416	0.88275	9.521248	0.998610252336283	0.37309	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	6.011000	0.70418	5.953000	0.51684	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8573:0.1426:0.0	14.931	0.70561	970	0.06235	.;Phosphoribosyltransferase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	102.33	33	chr15	94470347	.	C	T	102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.758;DP=720;ExcessHet=0;FS=36.931;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.11;SOR=5.315	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,16:104:99:0|1:94470347_C_T:116,0,3450:94470347	18	0	1	0
chr15	94470351	94470354	CCCC	-	exonic	MCTP2	.	frameshift deletion	MCTP2:NM_001385010:exon18:c.1716_1719del:p.P573Sfs*8,MCTP2:NM_001385004:exon19:c.2214_2217del:p.P739Sfs*8,MCTP2:NM_001159643:exon20:c.2214_2217del:p.P739Sfs*8,MCTP2:NM_001385005:exon20:c.2337_2340del:p.P780Sfs*8,MCTP2:NM_001385006:exon20:c.2256_2259del:p.P753Sfs*8,MCTP2:NM_001385009:exon20:c.1881_1884del:p.P628Sfs*8,MCTP2:NM_001385001:exon21:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385003:exon21:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385002:exon22:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_018349:exon22:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385007:exon23:c.2097_2100del:p.P700Sfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.439e-05	0.0003	1.5e-05	1.377e-05	2.32e-05	9.25e-06	7.85e-06	9.33e-06	7.63e-06	0	0	7.659e-05	0	0	0	1.532e-05	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	96.29	33	chr15	94470350	.	TCCCC	T	96.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.56;DP=721;ExcessHet=0;FS=37.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.626;SOR=5.41	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,16:106:99:0|1:94470347_C_T:110,0,3517:94470347	18	0	1	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del,MEF2A:NM_001130926:exon10:c.1228_1242del:p.Q416_Q420del,MEF2A:NM_001130927:exon10:c.1048_1062del:p.Q356_Q360del,MEF2A:NM_001365206:exon10:c.1246_1260del:p.Q422_Q426del,MEF2A:NM_001365207:exon10:c.1234_1248del:p.Q418_Q422del,MEF2A:NM_001352616:exon11:c.1252_1266del:p.Q424_Q428del,MEF2A:NM_001352617:exon11:c.1234_1248del:p.Q418_Q422del,MEF2A:NM_001352618:exon11:c.1246_1260del:p.Q422_Q426del,MEF2A:NM_001365202:exon11:c.1270_1284del:p.Q430_Q434del,MEF2A:NM_001365204:exon11:c.1258_1272del:p.Q426_Q430del,MEF2A:NM_001365205:exon11:c.1252_1266del:p.Q424_Q428del,MEF2A:NM_001365208:exon11:c.1228_1242del:p.Q416_Q420del,MEF2A:NM_001365209:exon11:c.1048_1062del:p.Q356_Q360del,MEF2A:NM_005587:exon11:c.1234_1248del:p.Q418_Q422del,MEF2A:NM_001171894:exon12:c.1228_1242del:p.Q416_Q420del,MEF2A:NM_001319206:exon12:c.1252_1266del:p.Q424_Q428del,MEF2A:NM_001352614:exon12:c.1228_1242del:p.Q416_Q420del,MEF2A:NM_001365201:exon12:c.1270_1284del:p.Q430_Q434del,MEF2A:NM_001365203:exon12:c.1258_1272del:p.Q426_Q430del,MEF2A:NM_001352615:exon13:c.1228_1242del:p.Q416_Q420del	.	0	60	66	37	63	203	0.538462	.	.	.	3207195	MEF2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	31018.3	39	chr15	99712504	.	CCAGCAGCAGCAGCAG	C	31018.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.196;DP=1827;ExcessHet=0.1862;FS=0.581;InbreedingCoeff=0.2549;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=27.11;ReadPosRankSum=0.469;SOR=0.77	GT:AD:DP:GQ:PL	0/1:0,41:69:99:2754,1139,1460	18	0	1	0
chr16	271441	271441	G	A	exonic	RGS11	.	nonsynonymous SNV	RGS11:NM_001286486:exon9:c.C155T:p.A52V,RGS11:NM_001286485:exon10:c.C674T:p.A225V,RGS11:NM_003834:exon11:c.C644T:p.A215V,RGS11:NM_183337:exon11:c.C707T:p.A236V	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.057372665871	0.0006	.	0.0004	0.0002	8.672e-05	0.0001	0	0.0007	0	0.0001	0.0004463	69	154602	rs141912967	0.0006	0.0006	0.0006	0.0005	0.0024	0.0005	0.0005	0.0015	0.0012	0.0002	0.0002	0.0003	2.519e-05	5.647e-05	0.0024	0.0006	0.0007	0.0002	0.0004	0.0004	0.0005	0.0003	0.0007	0.0003	0.0003	0.0006	0.0005	0.0002	0	0.0001	0	0	0	0	0.0007	0.0014	0	0.015	0.59928	D	0.084	0.62352	T	1.0	0.90584	D	0.986	0.76916	D	0.005232	0.32979	N	0.283080	0.999991	0.58761	D	3.145	0.88303	M	1.89	0.23688	T	-3.13	0.63901	D	0.539	0.57860	-0.6555	0.62473	T	0.199	0.55527	T	10	0.37853557	0.54018	T	0.057373	0.66942	D	0.329	0.65126	.	.	0.582387198248	0.57910	0.5535523581478102	0.55281	0.412393024737	0.41979	0.450259894133	0.31979	T	0.31512	0.68675	T	-0.25891	0.13028	T	-0.235038	0.51282	T	0.120008997619152	0.14431	T	0.912709	0.70062	D	0.22405499	0.45039	0.16093935	0.37459	0.22405499	0.45039	0.16093935	0.37458	-7.078	0.54602	T	.	.	0.128	0.31253	B	.;.;.	.;.;.	3.319846	0.45653	22.2	0.99827562634835176	0.90939	0.98221	0.80666	D	AEFDBI	0.738560	0.68339	D	0.481977617537559	0.66037	4.898688	0.33218469847725	0.57440	3.909757	0.999999999518942	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.04	5.04	0.67293	5.186000	0.64918	7.942000	0.75525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	17.351	0.87213	737	0.53483	G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-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	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.007576	0.05263	3202.83	33	chr16	271441	.	G	A	3202.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.9;DP=924;ExcessHet=0.119;FS=1.966;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.779;SOR=0.825	GT:AD:DP:GQ:PL	0/1:84,51:135:99:1271,0,2020	17	0	2	0
chr16	661707	661707	G	T	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon31:c.G3784T:p.A1262S	.	.	.	.	.	.	.	.	.	.	.	3356559	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0522882756544	7.9e-05	.	7.674e-05	0	8.681e-05	0	0	0.0001	0	0	7.76e-05	12	154602	rs376207789	6.301e-05	6.362e-05	5.996e-05	6.608e-05	0.0002	5.234e-05	4.851e-05	4.361e-05	3.491e-05	0.0001	0.0001	0.0004	0	0	0.0002	4.947e-05	0.0002	6.957e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-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	0.349	0.12345	T	0.195	0.28120	T	0.818	0.61118	P	0.367	0.47728	B	0.362297	0.13652	U	0.660669	0.999995	0.08975	N	1.55	0.39271	L	0.78	0.49358	T	-1.39	0.34397	N	0.375	0.41656	-0.9754	0.36037	T	0.112	0.40099	T	10	0.0804134	0.13050	T	0.052288	0.65009	D	0.105	0.29889	.	.	0.130388298395	0.12655	0.19952054490991858	0.19869	0.382605790772	0.39592	0.266434103251	0.05681	T	0.016818	0.13832	T	-0.356113	0.04355	T	-0.545708	0.17740	T	0.0421468115376631	0.04081	T	0.586041	0.21717	T	0.085423075	0.19814	0.051656444	0.08358	0.085423075	0.19814	0.051656444	0.08357	-5.077	0.37664	T	.	.	0.097	0.15609	B	.;.	.;.	0.135193	0.05303	1.794	0.98566730590083307	0.43051	0.19624	0.20733	N	AEFDGBI	0.149542	0.27365	N	-0.675350488070512	0.16726	0.8546828	-0.838246088771422	0.13571	0.7047149	0.999986101129734	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.63	0.256	0.14825	1.090000	0.30514	-0.393000	0.09462	-0.118000	0.14412	0.011000	0.18532	0.000000	0.08366	0.001000	0.02609	0.2807:0.2428:0.363:0.1135	1.686	0.02670	654	0.62520	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001362	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1784.33	186	chr16	661707	.	G	T	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=2457;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.273;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,66:149:99:0|1:661707_G_T:1798,0,3263:661707	18	0	1	0
chr16	1602417	1602417	C	T	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon4:c.G322A:p.V108M	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	0	1492	29	1	0	31	0.0102819	.	.	.	465701	not_provided|Saldino-Mainzer_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0072	0.00279553	0.0069	0.0015	0.0018	0.0001	0.0145	0.0093	0.01	0.0049	0.0069081	1068	154602	rs146128830	0.0095	0.0095	0.0096	0.0095	0.0107	0.0094	0.0093	0.0106	0.0105	0.0013	0.0017	0.0049	2.519e-05	0.0136	0.0040	0.0107	0.0082	0.0056	0.0069	0.0069	0.0066	0.0072	0.0111	0.0066	0.0064	0.0104	0.0102	0.0018	0.0033	0.0023	0.0049	0.0002	0.0123	0.0136	0.0111	0.0028	0.0056	0.022	0.53172	D	0.044	0.49663	D	0.985	0.61118	D	0.79	0.57710	P	0.062786	0.22072	N	0.456706	0.993577	0.23687	N	2.47	0.71715	M	0.2	0.60111	T	-0.71	0.24898	N	0.537	0.56489	-0.7691	0.56907	T	0.201	0.55737	T	10	0.015878737	0.00333	T	.	.	.	0.240	0.54500	.	.	0.585930602222	0.58267	0.22987807429048945	0.22902	0.335070030475	0.35518	0.282918542624	0.07903	T	0.020676	0.21710	T	-0.409037	0.02017	T	-0.348006	0.39433	T	0.0188908663489933	0.00599	T	0.862614	0.55818	D	0.030687803	0.02774	0.041938186	0.04881	0.026921747	0.01812	0.040142946	0.04269	-7.027	0.54231	T	0.34450922003466256	0.44207	0.119	0.35098	B	.;.;.	.;.;.	1.786767	0.22713	15.73	0.99512493023377735	0.68739	0.04505	0.10128	N	AEFDBI	0.049178	0.08470	N	-0.392399946430757	0.25738	1.399483	-0.661203259983345	0.17934	0.9558399	0.369238672997573	0.19853	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.83	-1.19	0.09091	0.022000	0.13402	-0.003000	0.13174	0.599000	0.40250	0.005000	0.17040	0.002000	0.18203	0.003000	0.05239	0.0:0.4051:0.0:0.5949	9.800	0.39929	568	0.70638	WD40-repeat-containing domain;Anaphase-promoting complex subunit 4, WD40 domain;Anaphase-promoting complex subunit 4, WD40 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	0.003525	0.000000	0.002725	0.000000	0.000000	0.025862	0.006098	0.000000	0.02632	1574.33	35	chr16	1602417	.	C	T	1574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.594;DP=769;ExcessHet=0;FS=2.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.808;SOR=0.508	GT:AD:DP:GQ:PL	0/1:65,62:127:99:1588,0,1627	18	0	1	0
chr16	2109849	2109849	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.C5318T:p.T1773I,PKD1:NM_001009944:exon15:c.C5318T:p.T1773I	Polycystic kidney disease, adult type I, Autosomal dominant	8	1507	5	2	0	9	0.00297717	.	.	.	427486	Polycystic_kidney_disease|Polycystic_kidney_disease,_adult_type|not_provided|PKD1-related_disorder|not_specified	Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.110	.	0.0007	0.00179712	0.0025	9.972e-05	0.0003	0	0	0.0008	0.0012	0.0142	0.0020181	312	154602	rs140162759	0.0018	0.0018	0.0014	0.0023	0.0140	0.0018	0.0018	0.0133	0.0130	0.0001	0.0003	0.0003	2.519e-05	0.0001	0.0019	0.0012	0.0013	0.0140	0.0010	0.0010	0.0007	0.0013	0.0139	0.0009	0.0008	0.0112	0.0102	0.0002	0	0.0001	0.0003	0.0002	0.0004	0	0.0010	0.0009	0.0139	0.149	0.24857	T	0.006	0.70582	D	0.434	0.35666	B	0.405	0.44649	B	0.040852	0.24013	N	0.485871	1	0.08975	N	1.09	0.27330	L	0.07	0.61677	T	-1.81	0.42575	N	0.191	0.20925	-0.8910	0.48846	T	0.150	0.47752	T	10	0.011328936	0.00248	T	.	.	.	0.110	0.31079	.	.	0.487287018651	0.48362	0.5312341658924361	0.53047	.	.	0.291497647762	0.09140	T	0.235843	0.60319	T	-0.508496	0.00512	T	-0.491519	0.23232	T	0.0122064155931029	0.00196	T	0.159484	0.01425	T	0.022032958	0.00840	0.036705226	0.03170	0.027155604	0.01868	0.040466808	0.04379	-6.522	0.50456	T	0.1896759428159911	0.24820	0.092	0.13690	B	.;.	.;.	-0.285994	0.02679	0.346	0.94808739146783294	0.25566	0.07990	0.13971	N	AEFBI	0.158293	0.28393	N	-1.17658971701761	0.05355	0.2439221	-1.29890202322246	0.04446	0.2097237	1.52963134720487E-4	0.05650	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	-2.69	0.05668	0.357000	0.19935	-1.204000	0.06033	-2.526000	0.00255	0.023000	0.19925	0.000000	0.08366	0.000000	0.00833	0.2416:0.5964:0.162:0.0	10.765	0.45485	650	0.62973	PKD domain|PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005202	0.000000	0.002740	0.004202	0.000000	0.000000	0.007246	0.007937	0.02632	2175.33	33	chr16	2109849	.	G	A	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.58;DP=837;ExcessHet=0;FS=3.434;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.52;MQRankSum=0.322;QD=12.15;ReadPosRankSum=0.817;SOR=0.976	GT:AD:DP:GQ:PL	0/1:92,87:179:99:2189,0,2428	18	0	1	0
chr16	2233076	2233076	A	G	exonic	E4F1	.	nonsynonymous SNV	E4F1:NM_001288776:exon7:c.A949G:p.T317A,E4F1:NM_001288778:exon7:c.A949G:p.T317A,E4F1:NM_004424:exon7:c.A949G:p.T317A	.	.	.	.	.	.	.	.	.	.	.	3238303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00448432817466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.18498	T	0.738	0.24264	T	0.057	0.22878	B	0.015	0.17295	B	0.003688	0.34611	N	0.344240	0.999776	0.20412	N	2.3	0.65703	M	3.33	0.07711	T	-0.91	0.35399	N	0.201	0.22228	-0.9963	0.30946	T	0.017	0.06950	T	10	0.08922881	0.15438	T	0.004484	0.11000	T	0.057	0.16321	0.476	0.55342	0.458374381611	0.45463	0.2034286680933642	0.20259	0.370209882676	0.38549	0.413405358791	0.26928	T	0.072201	0.34396	T	-0.271695	0.11568	T	-0.628047	0.10563	T	0.124008562039613	0.14818	T	0.679032	0.29028	T	0.035544943	0.04203	0.037324574	0.03361	0.035544943	0.04202	0.037324574	0.03361	-4.437	0.30055	T	.	.	0.108	0.24157	B	.;.;.	.;.;.	2.038482	0.25908	16.93	0.91508548931370959	0.20783	0.59296	0.30876	D	AEFGBHCI	0.068495	0.13515	N	-0.337260616611051	0.27743	1.524604	-0.254003958253921	0.29633	1.661797	0.999984142077933	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.31	4.22	0.49153	0.452000	0.21508	4.601000	0.43997	0.751000	0.87719	0.359000	0.25834	1.000000	0.68203	0.926000	0.46234	0.7649:0.0:0.082:0.1531	5.490	0.16063	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	.	.	.	.	.	.	.	.	0.02632	1228.33	41	chr16	2233076	.	A	G	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.406;SOR=0.755	GT:AD:DP:GQ:PL	0/1:68,50:118:99:1242,0,1772	18	0	1	0
chr16	2766143	2766143	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon11:c.C5615T:p.T1872I	.	425	1096	0	1	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0134273394559	.	0.000199681	6.593e-05	0	0	0	0	8.995e-05	0	0.0001	5.82e-05	9	154602	rs200333456	4.788e-05	4.788e-05	4.356e-05	5.225e-05	0.0012	3.86e-05	3.54e-05	0.0006	0.0004	0	0	3.826e-05	5.038e-05	0	0.0012	3.327e-05	0.0001	0.0002	2.626e-05	2.625e-05	3.854e-05	1.343e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	0.066	0.44501	T	0.622	0.39964	P	0.149	0.34106	B	0.002330	0.36766	N	0.192706	0.841518	0.28624	N	0	0.06538	N	1.86	0.24285	T	-1.13	0.29114	N	0.383	0.42443	-1.0706	0.09282	T	0.032	0.13679	T	10	0.09181684	0.16116	T	0.013427	0.32827	T	0.112	0.31546	0.29	0.25081	0.383760037723	0.37989	0.20803893501099052	0.20719	.	.	0.60723310709	0.53925	T	0.23593	0.60330	T	-0.305411	0.08158	T	-0.416799	0.31442	T	0.0673451389941769	0.08273	T	0.817118	0.47377	T	0.2860349	0.51621	0.20541894	0.44711	0.2860349	0.51621	0.20541894	0.44710	-5.271	0.39655	T	.	.	0.336	0.55631	B	.	.	3.321861	0.45692	22.2	0.79313625079990302	0.12685	0.95351	0.64382	D	AEFDGBHCI	.	.	.	0.0210622767420287	0.42812	2.586748	0.169318431692452	0.48174	3.036995	0.999999726915035	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	1.260000	0.32571	5.823000	0.50099	0.599000	0.40250	0.444000	0.26519	0.986000	0.30841	0.999000	0.91618	0.0:0.8293:0.1707:0.0	12.300	0.54187	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05263	7169.83	72	chr16	2766143	.	C	T	7169.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.43;DP=1855;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.41;SOR=0.661	GT:AD:DP:GQ:PL	0/1:153,154:307:99:4044,0,3896	17	0	2	0
chr16	2770683	2770683	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon14:c.C8215T:p.P2739S	.	430	996	89	7	0	103	0.0491647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	0.0023	0.00958466	0.0188	0.0018	0.0151	0	0	0.0053	0.025	0.0420	0.0049482	765	154602	rs138495768	0.0047	0.0047	0.0036	0.0058	0.0438	0.0046	0.0046	0.0394	0.0377	0.0007	0.0026	0.0042	2.763e-05	0.0001	0.0438	0.0025	0.0065	0.0388	0.0035	0.0035	0.0029	0.0041	0.0344	0.0032	0.0031	0.0301	0.0285	0.0006	0	0.0060	0.0026	0.0002	0	0.0306	0.0031	0.0066	0.0344	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000011	0.62929	D	0.000000	0.720634	0.33614	D	0.55	0.14455	N	0.33	0.58323	T	-1.53	0.37178	N	0.386	0.42737	-0.4492	0.70427	T	0.192	0.54389	T	10	0.007466644	0.00170	T	.	.	.	0.190	0.46781	.	.	0.595214673487	0.59199	0.12494821746765934	0.12420	.	.	0.456650614738	0.32852	T	0.215958	0.57798	T	-0.330918	0.06043	T	-0.219549	0.52781	T	0.0301538723058847	0.02013	T	0.748625	0.36937	T	0.36156985	0.57956	0.40821308	0.65145	0.36156985	0.57956	0.40821308	0.65145	-4.674	0.33088	T	.	.	0.131	0.28174	B	.	.	3.829761	0.55346	23.6	0.947188900019729	0.25389	0.82683	0.41877	D	AEFDGBHCI	0.632421	0.61304	D	0.504954797921864	0.67383	5.074224	0.538789430895942	0.70620	5.532223	0.999999999999159	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	2.149000	0.41869	7.631000	0.62734	0.599000	0.40250	0.908000	0.31627	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	15.222	0.73011	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032753	0.005263	0.027624	0.044643	0.000000	0.051724	0.040625	0.046154	0.07895	3821.79	33	chr16	2770683	.	C	T	3821.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.357;DP=884;ExcessHet=0.3672;FS=13.505;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.009;SOR=0.969	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1626,0,1395	16	0	3	0
chr16	2821102	2821102	C	A	exonic	PRSS21	.	stopgain	PRSS21:NM_001270452:exon5:c.C666A:p.C222X	.	415	1067	38	2	0	42	0.0193015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	.	0.0018	0.00838658	0.0068	0.0004	0.0010	0	0.0234	0.0045	0.0055	0.0206	0.0058731	908	154602	rs139303479	0.0036	0.0037	0.0031	0.0042	0.0211	0.0036	0.0035	0.0203	0.0200	0.0002	0.0011	0.0007	2.519e-05	0.0209	0.0109	0.0018	0.0037	0.0211	0.0041	0.0041	0.0025	0.0057	0.0222	0.0038	0.0037	0.0188	0.0175	0.0003	0	0.0021	0.0009	0	0.0306	0.0068	0.0020	0.0033	0.0222	0.008	0.58626	D	0.006	0.70582	D	0.979	0.59044	D	0.762	0.56524	P	.	.	.	.	1	0.81001	D	3.345	0.91022	M	-1.71	0.83157	D	-3.12	0.63782	D	0.319	0.35938	0.526	0.90905	D	0.641	0.87438	D	9	0.023073196	0.00593	T	.	.	.	0.591	0.83691	.	.	0.905404214419	0.90446	0.6373043469950349	0.63664	0.105408080071	0.11918	0.337047219276	0.15996	T	0.721797	0.92143	D	-0.224013	0.17449	T	-0.0789608	0.64981	T	0.04023178286282	0.03733	T	.	.	.	0.5699691	0.71059	0.61235946	0.77445	0.5699691	0.71060	0.61235946	0.77446	-15.375	0.96670	D	.	.	0.962	0.88285	P	.	.	3.859172	0.55956	23.7	0.98635057207627197	0.43974	0.94296	0.60715	D	AEFDGBHCI	0.869293	0.78976	D	0.474615841107823	0.65613	4.844492	0.322565907156833	0.56869	3.850931	0.999999983955616	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.35	4.35	0.51454	4.884000	0.62827	3.581000	0.39157	0.587000	0.30956	0.997000	0.40164	0.498000	0.25189	0.021000	0.11733	0.0:1.0:0.0:0.0	14.485	0.67191	518	0.74548	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	rs139303479	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1574.33	33	chr16	2821102	.	C	A	1574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.509;DP=854;ExcessHet=0;FS=2.196;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.721;SOR=0.523	GT:AD:DP:GQ:PL	0/1:69,64:133:99:1588,0,1835	18	0	1	0
chr16	5027156	5027156	C	G	exonic	NAGPA	.	nonsynonymous SNV	NAGPA:NM_016256:exon9:c.G1319C:p.G440A	.	410	1105	7	0	0	7	0.00315742	.	.	.	3192688	NAGPA-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00410096506977	0.0011	0.000399361	0.0009	0	0.0021	0	0	0.0010	0.0033	0.0012	0.0008538	132	154602	rs149923128	0.0006	0.0006	0.0006	0.0007	0.0101	0.0006	0.0006	0.0080	0.0072	0.0002	0.0017	0.0008	2.519e-05	1.872e-05	0.0101	0.0006	0.0014	0.0008	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0012	0.0014	0	0	0.0068	0.0007	0.0047	0.0008	0.271	0.31834	T	0.459	0.26306	T	0.156	0.28196	B	0.026	0.20792	B	0.096039	0.02502	N	1.802250	1	0.08975	N	1.79	0.46772	L	2.38	0.24085	T	-0.32	0.28290	N	0.285	0.43320	-1.0241	0.22377	T	0.048	0.20474	T	10	0.0074922144	0.00170	T	0.004101	0.09806	T	0.071	0.20720	.	.	0.198526703765	0.19489	0.5620697980475041	0.56133	0.0169805560263	0.01642	0.259231984615	0.04800	T	0.202	0.55952	T	-0.554577	0.00274	T	-0.582618	0.14311	T	0.0179039233414692	0.00517	T	0.589941	0.24876	T	0.038957473	0.05288	0.04132336	0.04671	0.038957473	0.05288	0.04132336	0.04670	-3.021	0.15003	T	.	.	0.082	0.08560	B	.;.	.;.	-0.120686	0.03521	0.668	0.56524169159334892	0.05571	0.15197	0.18792	N	AEFBCI	0.147231	0.27086	N	-0.842929674083241	0.12224	0.594567	-0.903884172870788	0.12002	0.6148999	0.98848535540706	0.31531	0.706298	0.61202	0	0.633656	0.55848	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.09	0.304	0.15044	-0.085000	0.11215	-0.059000	0.12448	0.591000	0.32079	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.0:0.4139:0.2041:0.382	3.371	0.06801	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014602	0.050505	0.016304	0.014620	0.000000	0.008621	0.003049	0.000000	0.02632	1286.33	34	chr16	5027156	.	C	G	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.247;DP=727;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.916;SOR=0.596	GT:AD:DP:GQ:PL	0/1:41,49:90:99:1300,0,1135	18	0	1	0
chr16	5044400	5044400	G	T	exonic	C16orf89	.	nonsynonymous SNV	C16orf89:NM_001098514:exon8:c.C1034A:p.P345Q	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00862398055785	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766056131	3.768e-05	4.515e-05	4.226e-05	3.306e-05	0.0019	2.964e-05	2.66e-05	0.0011	0.0008	0	0	0	0	0	0.0019	3.69e-05	6.639e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.28836	T	-1.34	0.33401	N	0.303	0.34228	-1.0282	0.21038	T	0.120	0.41907	T	9	0.13947237	0.26518	T	0.008624	0.22779	T	0.023	0.04649	.	.	0.124217242631	0.12060	.	.	.	.	.	.	.	.	.	.	-0.328062	0.06259	T	-0.645369	0.09281	T	0.0631519271108067	0.07655	T	0.463454	0.13490	T	.	.	.	.	.	.	.	.	-3.455	0.15807	T	.	.	0.091	0.13315	B	.	.	1.051969	0.14333	10.91	0.97643189040622658	0.35091	0.09199	0.15003	N	AEFDBI	0.109650	0.21771	N	-0.303772686758447	0.29003	1.604647	-0.54752978918784	0.20872	1.12649	0.928636585299873	0.26936	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	4.29	1.05	0.19280	0.683000	0.25029	0.148000	0.15257	0.659000	0.54702	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0953:0.3297:0.5749:0.0	7.044	0.24215	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	0	0	0	1	0	0	0	0.004536	0.005051	0.004076	0.011696	0.000000	0.008621	0.000000	0.000000	0.02632	1127.33	34	chr16	5044400	.	G	T	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=730;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.407;SOR=0.927	GT:AD:DP:GQ:PL	0/1:57,42:99:99:1141,0,1569	18	0	1	0
chr16	5090111	5090111	A	T	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.T532A:p.F178I,EEF2KMT:NM_201598:exon5:c.T613A:p.F205I,EEF2KMT:NM_201400:exon6:c.T715A:p.F239I	.	492	999	9	0	22	31	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00634192903378	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452029054	6.876e-06	6.225e-05	9.579e-06	4.146e-06	.	3.48e-06	2.54e-06	.	.	0	0	0	0	0.0002	0	0	0	0	5.39e-05	0.0016	7.912e-05	2.756e-05	0.0002	2.614e-05	1.871e-05	8.335e-05	5.972e-05	0.0002	0	6.655e-05	0	0	0	0	0	0	0	0.371	0.11514	T	0.718	0.06490	T	0.0	0.02946	B	0.001	0.08700	B	0.051195	0.23004	N	0.452369	0.881992	0.28033	N	.	.	.	2.34	0.16351	T	-1.25	0.32991	N	0.281	0.33030	-0.9925	0.31959	T	0.024	0.10374	T	10	0.07094821	0.10392	T	0.006342	0.16668	T	0.036	0.09122	.	.	0.0138822411134	0.00435	0.35754777867292564	0.35668	0.058414084822	0.06474	0.42506146431	0.28533	T	0.004978	0.04407	T	-0.245721	0.14628	T	-0.590737	0.13603	T	0.0609278567135334	0.07315	T	0.593841	0.21938	T	0.08025057	0.18378	0.07948541	0.17899	0.08025057	0.18377	0.07948541	0.17898	-8.801	0.67213	D	.	.	0.214	0.44332	B	.;.;.	.;.;.	1.578377	0.20203	14.64	0.9265268353958801	0.22130	0.35707	0.25364	N	AEFBCI	0.046411	0.07703	N	-0.713611160653821	0.15638	0.7898892	-0.621188378201589	0.18950	1.014565	1.76658864630672E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	1.62	0.22817	0.847000	0.27348	0.919000	0.22689	0.754000	0.88378	0.394000	0.26121	0.987000	0.30940	0.805000	0.37950	0.5683:0.0:0.4317:0.0	7.911	0.28954	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	.	.	.	.	.	.	.	.	0.05263	237.54	35	chr16	5090111	.	A	T	237.54	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.45;DP=737;ExcessHet=0.3672;FS=5.191;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=56.51;MQRankSum=-6.824;QD=1.68;ReadPosRankSum=0.878;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,6:44:95:.:.:95,0,1209:.	17	0	2	0
chr16	14447062	14447062	C	T	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon22:c.G1552A:p.V518I,PARN:NM_001134477:exon23:c.G1507A:p.V503I,PARN:NM_002582:exon23:c.G1690A:p.V564I	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	431	1041	48	2	0	52	0.0243674	.	.	.	429763	not_provided|Dyskeratosis_congenita,_autosomal_recessive_6|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4|not_specified	MedGen:C3661900|MONDO:MONDO:0014600,MedGen:C4225356,OMIM:616353|MONDO:MONDO:0014612,MedGen:C4225347,OMIM:616371,Orphanet:2032|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0073	0.00599042	0.0092	0.0011	0.0038	0	0.0020	0.0106	0.0090	0.0199	0.0090361	1397	154602	rs35722504	0.0094	0.0094	0.0091	0.0097	0.0175	0.0092	0.0092	0.0166	0.0163	0.0012	0.0037	0.0210	5.039e-05	0.0019	0.0175	0.0096	0.0102	0.0173	0.0067	0.0067	0.0069	0.0066	0.0203	0.0064	0.0063	0.0170	0.0158	0.0017	0	0.0066	0.0193	0	0.0015	0.0170	0.0095	0.0099	0.0203	0.079	0.38863	T	0.212	0.26714	T	0.006	0.13644	B	0.006	0.12133	B	0.044615	0.01935	N	2.052200	1	0.08975	N	0.805	0.20218	L	.	.	.	-0.42	0.14193	N	0.054	0.06322	-0.9948	0.31352	T	0.063	0.26065	T	9	0.002854675	0.00046	T	.	.	.	0.119	0.33137	.	.	0.193865811164	0.18958	0.0963495934639145	0.09566	0.110193835077	0.12434	0.251484751701	0.03926	T	0.021653	0.16823	T	-0.615878	0.00117	T	-0.643162	0.09441	T	0.00869064704499961	0.00107	T	0.650635	0.26150	T	0.038499925	0.05140	0.05202924	0.08493	0.036931377	0.04637	0.04864813	0.07268	-4.677	0.36381	T	.	.	0.070	0.04806	B	.;.;.;.	.;.;.;.	1.351161	0.17589	13.25	0.98114141245208752	0.38375	0.11818	0.16881	N	AEFDBI	0.033924	0.04112	N	-0.586871005853647	0.19342	1.011559	-0.481498412176652	0.22663	1.232	0.999999520260864	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.41	4.45	0.53365	0.727000	0.25667	0.255000	0.16475	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.998000	0.85391	0.0:0.8472:0.1528:0.0	13.809	0.62745	923	0.18507	.;.;.;.	.	.	.	.	rs35722504	Likely benign	0	0	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	0.014617	0.010101	0.006793	0.002924	0.200000	0.025862	0.027607	0.022727	0.05263	1473.83	38	chr16	14447062	.	C	T	1473.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.39;DP=766;ExcessHet=0.119;FS=0.671;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.244;SOR=0.586	GT:AD:DP:GQ:PL	0/1:50,30:80:99:722,0,1320	17	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	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:99,56:175:99:203,0,1753	4	0	15	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1416.55	75	chr16	14667707	.	GCCCC	G	1416.55	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.548;DP=1073;ExcessHet=4.0268;FS=83.656;InbreedingCoeff=-0.2788;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.47;SOR=9.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,12:81:99:0|1:14667707_GCCCC_G:103,0,2655:14667707	11	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19,BFAR:NM_016561:exon8:c.1237_1238insGGGG:p.L413Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1294.52	71	chr16	14667711	.	C	CGGGG	1294.52	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,12:81:99:0|1:14667707_GCCCC_G:103,0,2655:14667707	15	0	4	0
chr16	21404652	21404652	C	T	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.000815935517244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.16e-05	7.664e-06	1.658e-05	7.24e-06	0.0001	4.17e-06	2.74e-06	4.494e-05	2.683e-05	6.609e-05	0	0	0.0001	0	0	3.324e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	175.34	7	chr16	21404652	.	C	T	175.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.02;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=29.62;MQRankSum=-1.578;QD=9.74;ReadPosRankSum=-0.235;SOR=0.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,6:18:99:0|1:21404652_C_T:189,0,458:21404652	18	0	1	0
chr16	21404696	21404696	G	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00340942577906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.827e-05	4.047e-05	4.216e-05	5.344e-05	0.0004	3.15e-05	2.66e-05	0.0002	0.0002	8.916e-05	0	0	0.0004	3.409e-05	0	3.355e-05	0	1.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	285.33	36	chr16	21404696	.	G	A	285.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.5;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=25.53;MQRankSum=-0.714;QD=6.07;ReadPosRankSum=1.63;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,13:47:99:0|1:21404652_C_T:299,0,1111:21404652	18	0	1	0
chr16	23424923	23424923	C	T	exonic	COG7	.	nonsynonymous SNV	COG7:NM_153603:exon7:c.G835A:p.V279I	Congenital disorder of glycosylation, type IIe	0	1505	15	2	0	19	0.0062727	.	.	.	340982	COG7-related_disorder|not_provided|COG7_congenital_disorder_of_glycosylation	.|MedGen:C3661900|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.164	.	.	0.00159744	0.0018	0	0.0001	0.0003	0	0.0002	0.0079	0.0100	0.0011707	181	154602	rs367796897	0.0006	0.0006	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	2.993e-05	0.0005	0	2.524e-05	0	0.0012	3.692e-05	0.0007	0.0080	0.0004	0.0004	0.0002	0.0006	0.0075	0.0003	0.0003	0.0055	0.0049	2.404e-05	0	0.0010	0	0.0004	0	0	4.409e-05	0	0.0075	0.339	0.12754	T	0.384	0.15794	T	0.299	0.32525	B	0.144	0.33818	B	0.000914	0.41128	D	0.242123	0.999994	0.58761	D	2.215	0.62545	M	0.75	0.50192	T	-0.16	0.09460	N	0.437	0.47580	-1.0145	0.25497	T	0.124	0.42799	T	10	0.0063500702	0.00143	T	.	.	.	0.164	0.42212	.	.	0.332386209738	0.32853	0.2118867272924524	0.21104	0.343418805594	0.36273	0.429371595383	0.29122	T	0.029176	0.20965	T	-0.396018	0.02459	T	-0.335656	0.40836	T	0.0285739946472209	0.01772	T	0.926107	0.72788	D	0.05932931	0.12046	0.058256436	0.10734	0.05932931	0.12046	0.058256436	0.10733	-5.87	0.45178	T	0.4826978869154527	0.56106	0.116	0.23395	B	.	.	3.581406	0.50496	23.0	0.99591961931315431	0.73690	0.91561	0.53787	D	AEFBHCI	0.690406	0.65075	D	0.0473114519717714	0.44019	2.683663	0.164546367607332	0.47917	3.014923	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.563494	0.21769	0	.	.	5.31	5.31	0.75063	5.977000	0.70179	7.569000	0.60664	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.713000	0.34548	0.0:1.0:0.0:0.0	17.976	0.89049	375	0.84013	.	.	.	.	.	.	Likely benign	0	0	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1334.33	36	chr16	23424923	.	C	T	1334.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=714;ExcessHet=0;FS=5.263;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.945;SOR=1.239	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1348,0,1145	18	0	1	0
chr16	29383375	29383375	A	-	exonic	NPIPB11	.	frameshift deletion	NPIPB11:NM_001310137:exon8:c.1557delT:p.E520Sfs*77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0	0	0.0051	0.0028	0.0005	0	0.0003	.	.	.	.	0.0110	0.0070	0.0119	0.0103	0.0677	0.0108	0.0106	0.0650	0.0639	0.0111	0.0225	0.0054	0.0677	0.0108	0.0070	0.0060	0.0103	0.0082	0.0016	0.0003	0.0024	0.0008	0.0176	0.0007	0.0005	0.0048	0.0026	0	0	0	0	0.0176	0	0	0.0013	0	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	477.79	299	chr16	29383374	.	CA	C	477.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.687;DP=1416;ExcessHet=0.119;FS=3.356;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=50.76;MQRankSum=2.63;QD=1.04;ReadPosRankSum=-0.895;SOR=1.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,114:162:99:0|1:29383374_CA_C:268,0,1233:29383374	17	0	2	0
chr16	29457723	29457723	C	G	exonic	SLX1A;SLX1B	.	nonsynonymous SNV	SLX1A:NM_001015000:exon3:c.C332G:p.P111R,SLX1B:NM_178044:exon3:c.C332G:p.P111R,SLX1A:NM_001014999:exon4:c.C674G:p.P225R,SLX1B:NM_024044:exon4:c.C674G:p.P225R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	.	.	.	0.0012	0	0	0	0	0.0003	0	0.0182	3.84e-05	1	26028	rs749921478	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	5.002e-05	0	0	1.984e-05	0.0002	0.0027	9.206e-05	0.0001	5.264e-05	0.0001	0.0041	4.944e-05	3.783e-05	0.0022	0.0017	0	0	0	0	0	0	0	0	0	0.0041	0.102	0.78490	T	0.102	0.66756	T	.	.	.	.	.	.	0.000168	0.48594	U	0.083144	0.999933	0.81001	D	.	.	.	.	.	.	-3.58	0.75297	D	0.391	0.53884	-0.3134	0.74609	T	0.399	0.75052	T	9	0.00573045	0.00128	T	.	.	.	0.265	0.57870	0.322	0.30226	0.239312915715	0.23560	0.37273961207491674	0.37187	3.52078213034	0.99770	0.718914270401	0.69888	T	.	.	.	0.000292015	0.51696	T	-0.237357	0.51057	T	0.301807576914667	0.25079	T	0.863714	0.59716	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30868	B	.;.	.;.	4.648120	0.74066	26.1	0.99696999005345688	0.80316	0.92695	0.56320	D	AEFI	0.752618	0.69306	D	0.390117347343614	0.60886	4.282652	0.274082184268719	0.54031	3.569388	0.389715563515384	0.20035	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.5	2.5	0.29355	6.700000	0.74442	7.524000	0.59808	0.277000	0.18592	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:1.0:0.0:0.0	11.181	0.47852	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	32.15	5	chr16	29457723	.	C	G	32.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.094;DP=262;ExcessHet=0;FS=2.483;InbreedingCoeff=-0.0319;MLEAC=1;MLEAF=0.029;MQ=30.5;MQRankSum=0.642;QD=1.46;ReadPosRankSum=-1.364;SOR=0.169	GT:AD:DP:GQ:PL	0/1:18,4:22:45:45,0,432	16	0	1	2
chr16	29484097	29484097	-	CCCCGCAGACGCT	exonic	NPIPB12	.	frameshift insertion	NPIPB12:NM_001355401:exon8:c.2378_2379insAGCGTCTGCGGGG:p.P794Afs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269229025	8.429e-05	0.0021	8.122e-05	8.709e-05	0.0001	6.215e-05	5.524e-05	4.741e-05	3.86e-05	0	0.0001	0	0	0.0005	0	7.266e-05	0.0001	0	0.0003	0.0004	0.0002	0.0004	0.0006	0.0002	0.0001	0.0001	9.002e-05	7.72e-05	0	0.0002	0	0.0006	0.0013	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	223.39	18	chr16	29484097	.	C	CCCCCGCAGACGCT	223.39	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.53;DP=492;ExcessHet=0;FS=83.283;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.026;MQ=22.87;MQRankSum=2.77;QD=8.59;ReadPosRankSum=-0.428;SOR=3.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,7:26:99:0|1:29484079_G_C:237,0,758:29484079	18	0	1	0
chr16	30533150	30533150	T	C	exonic;splicing	ZNF747;ZNF747	NM_001305020:exon2:c.484-2A>G;NM_001305019:exon3:c.344-2A>G	nonsynonymous SNV	ZNF747:NM_023931:exon2:c.A485G:p.Q162R	.	.	.	.	.	.	.	.	0.0044	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00903536066626	7.7e-05	.	2.489e-05	0	8.673e-05	0	0	3.026e-05	0	0	3.23e-05	5	154602	rs142751951	5.617e-05	5.609e-05	5.316e-05	5.921e-05	8.123e-05	4.616e-05	4.242e-05	5.422e-05	4.966e-05	0	2.236e-05	0	0	0	0	6.655e-05	0	8.123e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-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	0.0	0.91255	D	0.635	0.07082	T	0.993	0.65571	D	0.968	0.71741	D	.	.	.	.	1	0.81001	D	.	.	.	4.42	0.02177	T	-0.07	0.08033	N	0.092	0.07125	-0.7808	0.56257	T	0.009	0.03403	T	9	0.1212191	0.22975	T	0.009035	0.23774	T	0.084	0.24469	.	.	0.0846915920261	0.08053	.	.	0.464182154052	0.45893	0.357549726963	0.19029	T	0.017761	0.14435	T	-0.139887	0.29908	T	-0.308263	0.43845	T	0.147344030102813	0.16890	T	0.208179	0.02493	T	0.23017287	0.45767	0.2974804	0.55781	0.23017287	0.45767	0.2974804	0.55780	-2.093	0.03554	T	.	.	0.129	0.27463	B	.	.	2.292604	0.29327	18.09	0.90079053825550282	0.19363	0.75254	0.36837	D	AEFDBI	0.145602	0.26885	N	-0.177244824605908	0.34085	1.941234	-0.233160870499595	0.30356	1.708465	0.999892243295743	0.45129	0.493124	0.18060	0	0.587265	0.34161	0	0.576033	0.28219	0	0.322989	0.05693	1	.	.	2.73	2.73	0.31266	1.072000	0.30290	4.570000	0.43877	0.366000	0.20181	0.006000	0.17386	1.000000	0.68203	0.234000	0.22842	0.0:0.0:0.0:1.0	8.906	0.34683	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1507.33	38	chr16	30533150	.	T	C	1507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.364;DP=772;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.123;SOR=0.756	GT:AD:DP:GQ:PL	0/1:51,63:114:99:1521,0,1223	18	0	1	0
chr16	30979375	30979375	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon14:c.C3589T:p.R1197C	.	415	1103	4	0	0	4	0.00180995	.	.	.	2411094	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.290	0.578688079365	.	0.000998403	0.0002	0	0	0.0001	0	0.0002	0	0.0006	0.0001811	28	154602	rs537371612	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0006	0.0005	0	0	0	0.0001	0	0.0007	8.547e-05	0.0002	0.0007	7.22e-05	7.217e-05	6.422e-05	8.054e-05	0.0008	3.967e-05	3.124e-05	0.0003	0.0002	2.404e-05	0	0	0	0	0	0	7.35e-05	0.0005	0.0008	0.002	0.72154	D	0.067	0.44302	T	0.078	0.24389	B	0.006	0.12133	B	0.066721	0.21790	N	0.460605	0.99952	0.21065	N	0.895	0.22405	L	-3.51	0.94693	D	-1.55	0.37566	N	0.511	0.54234	-0.0362	0.81500	T	0.673	0.88669	D	10	0.04736358	0.04044	T	0.578688	0.96217	D	0.290	0.60924	0.324	0.30549	0.386522206555	0.38262	0.4157694126210374	0.41492	0.304605667835	0.32764	0.647132754326	0.59578	T	0.052977	0.29314	T	-0.137997	0.30208	T	-0.0842806	0.64589	T	0.0527927689254284	0.05984	T	0.838916	0.51225	T	0.1440376	0.33080	0.081097394	0.18402	0.1440376	0.33079	0.081097394	0.18402	-6.148	0.47501	T	.	.	0.166	0.36574	B	.	.	3.622748	0.51274	23.1	0.9494638875704895	0.25847	0.21479	0.21416	N	AEFBI	0.072046	0.14365	N	-0.430368518024628	0.24411	1.317856	-0.342778653818814	0.26732	1.47854	0.990651144862515	0.32225	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	5.03	5.03	0.67015	0.916000	0.28273	3.173000	0.36621	0.599000	0.40250	0.883000	0.31049	1.000000	0.68203	0.254000	0.23365	0.1701:0.8299:0.0:0.0	12.266	0.53998	36	0.98055	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1533.33	34	chr16	30979375	.	C	T	1533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.247;DP=737;ExcessHet=0;FS=3.525;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.059;SOR=0.628	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1547,0,1035	18	0	1	0
chr16	31462506	31462506	A	G	exonic	ARMC5	.	nonsynonymous SNV	ARMC5:NM_001105247:exon3:c.A959G:p.N320S,ARMC5:NM_024742:exon3:c.A959G:p.N320S,ARMC5:NM_001301820:exon4:c.A1055G:p.N352S,ARMC5:NM_001288767:exon5:c.A1244G:p.N415S	ACTH-independent macronodular adrenal hyperplasia 2, Autosomal dominant, Somatic mutation	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0353763484007	.	0.000199681	8.357e-06	0	0	0	0	0	0	6.106e-05	1.29e-05	2	154602	rs575976648	2.056e-06	2.736e-06	0	4.131e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	3.826e-05	0	0	0	1.799e-06	0	0	6.564e-06	6.562e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.424	0.15406	T	0.27	0.92824	T	0.998	0.73220	D	0.994	0.82059	D	0.000204	0.47681	D	0.184036	1	0.81001	D	1.075	0.27130	L	2.38	0.15843	T	-0.62	0.18248	N	0.501	0.54845	-1.0271	0.21396	T	0.051	0.21806	T	10	0.113865286	0.21406	T	0.035376	0.56304	D	0.060	0.17295	.	.	0.454331543959	0.45056	0.03385223233839354	0.03333	1.34180518305	0.83868	0.7296474576	0.71455	T	0.004131	0.03542	T	-0.35309	0.04536	T	-0.648111	0.09086	T	0.284816048668183	0.24373	T	0.776522	0.40874	T	0.039778307	0.05556	0.036479432	0.03104	0.039778307	0.05556	0.036479432	0.03104	-5.455	0.41445	T	0.0920290755019466	0.05902	0.186	0.41947	B	.;.;.;.;.	.;.;.;.;.	2.474573	0.31903	18.88	0.985738595512758	0.43141	0.48781	0.28284	N	AEFDBI	0.111639	0.22096	N	-0.231174137138256	0.31861	1.790833	-0.114660805075655	0.34798	2.005806	0.476031887663876	0.20746	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.51	4.51	0.54589	2.500000	0.45040	.	.	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8933:0.0:0.1067:0.0	6.787	0.22864	385	0.83500	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1142.33	43	chr16	31462506	.	A	G	1142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.659;DP=735;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=-0.902;SOR=0.561	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1156,0,1152	18	0	1	0
chr16	55528447	55528447	G	A	exonic	LPCAT2	.	nonsynonymous SNV	LPCAT2:NM_017839:exon3:c.G382A:p.V128I	.	433	1037	48	4	0	56	0.0262911	.	.	.	703739	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.468	.	0.0078	0.00559105	0.0077	0.0017	0.0052	0	0.0012	0.0093	0.0100	0.0128	0.0074773	1156	154602	rs61739979	0.0068	0.0068	0.0065	0.0071	0.0373	0.0067	0.0067	0.0332	0.0316	0.0018	0.0060	0.0275	5.041e-05	0.0010	0.0373	0.0064	0.0087	0.0122	0.0054	0.0054	0.0056	0.0053	0.0133	0.0051	0.0050	0.0106	0.0097	0.0013	0	0.0060	0.0265	0.0004	0.0014	0.0272	0.0069	0.0128	0.0133	0.144	0.25255	T	0.208	0.26883	T	0.837	0.46346	P	0.677	0.53365	P	0.000007	0.62929	D	0.106957	1	0.81001	D	1.915	0.51223	L	-3.06	0.92457	D	-0.74	0.20791	N	0.209	0.23253	0.373	0.88694	D	0.712	0.90112	D	10	0.009516329	0.00215	T	.	.	.	0.468	0.76289	.	.	0.883007314517	0.88186	0.4636391809396324	0.46282	0.642191404682	0.57793	0.374768316746	0.21513	T	0.021343	0.16634	T	-0.275501	0.11150	T	-0.158127	0.58521	T	0.0584089146062056	0.06916	T	0.843516	0.52087	T	0.21427143	0.43828	0.2297524	0.48057	0.2164344	0.44102	0.2297524	0.48056	-6.495	0.50248	T	.	.	0.082	0.08851	B	.	.	2.957763	0.39377	20.9	0.99756614939052335	0.84694	0.97969	0.78517	D	AEFBI	0.586403	0.58446	D	0.408504751708759	0.61889	4.39626	0.431893225924825	0.63564	4.592506	0.999999999454702	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.653264	0.51672	0	0.735409	0.98432	0	.	.	5.8	5.8	0.92081	5.616000	0.67389	3.029000	0.36034	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.929000	0.46594	0.0:0.0:1.0:0.0	20.055	0.97648	802	0.44336	Phospholipid/glycerol acyltransferase	.	.	.	.	.	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	0.037764	0.030303	0.040761	0.058480	0.000000	0.034483	0.021341	0.026515	0.02632	2056.33	40	chr16	55528447	.	G	A	2056.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.34;DP=1191;ExcessHet=0;FS=2.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.179;SOR=0.507	GT:AD:DP:GQ:PL	0/1:81,85:166:99:2070,0,1971	18	0	1	0
chr16	57436730	57436730	T	C	exonic	CIAPIN1	.	nonsynonymous SNV	CIAPIN1:NM_001308347:exon4:c.A274G:p.N92D,CIAPIN1:NM_001308358:exon4:c.A313G:p.N105D,CIAPIN1:NM_020313:exon4:c.A313G:p.N105D	.	.	.	.	.	.	.	.	.	.	.	2334855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00548217456574	0.0003	0.000199681	0.0002	0	8.663e-05	0	0	0.0003	0	6.069e-05	0.0001617	25	154602	rs200237174	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0012	0.0009	0	0.0003	0.0006	0	0	0.0021	0.0001	0.0003	5.801e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.217e-05	0	0.0003	0.0009	0	0	0	0.0003	0.0005	0.0004	0.203	0.31088	T	0.584	0.44302	T	0.001	0.07471	B	0.001	0.04355	B	0.032222	0.25058	N	0.429079	0.859545	0.81001	D	2.14	0.59869	M	0.99	0.41750	T	-0.62	0.22727	N	0.205	0.25745	-1.0579	0.12286	T	0.061	0.25419	T	10	0.022553086	0.00566	T	0.005482	0.14106	T	0.027	0.05988	.	.	0.225902525712	0.22197	0.30394669860518425	0.30307	0.24317291604	0.26821	0.470161497593	0.34702	T	0.060588	0.31428	T	-0.496108	0.00601	T	-0.644424	0.09349	T	0.0271143410093851	0.01560	T	0.69993	0.30971	T	0.1401121	0.32339	0.09029306	0.21166	0.1401121	0.32338	0.09029306	0.21166	-3.768	0.20327	T	.	.	0.066	0.06525	B	.;.;.;.;.;.	.;.;.;.;.;.	2.004907	0.25474	16.78	0.98955394573583022	0.49227	0.18043	0.20095	N	AEFDBI	0.076630	0.15419	N	-0.670901365661186	0.16854	0.8623446	-0.576543868107011	0.20105	1.081721	0.122331118034537	0.16911	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.06	1.4	0.21393	0.035000	0.13685	0.100000	0.14636	0.650000	0.52971	0.479000	0.26792	0.105000	0.22724	0.947000	0.49155	0.0:0.1655:0.1523:0.6822	5.212	0.14645	719	0.55657	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.02632	454.33	40	chr16	57436730	.	T	C	454.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.695;DP=668;ExcessHet=0;FS=2.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.951;SOR=0.463	GT:AD:DP:GQ:PL	0/1:19,19:38:99:468,0,531	18	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G,NAE1:NM_001286500:exon6:c.A356G:p.D119G,NAE1:NM_003905:exon6:c.A347G:p.D116G,NAE1:NM_001018159:exon7:c.A329G:p.D110G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	441.61	39	chr16	66823281	.	T	C	441.61	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-3.833;DP=1524;ExcessHet=1.3;FS=221.541;InbreedingCoeff=-0.1732;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.452;SOR=10.787	GT:AD:DP:GQ:PL	0/1:89,24:113:62:62,0,2159	13	0	5	1
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	189.21	104	chr16	67228398	.	C	G	189.21	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.185;DP=1274;ExcessHet=0.3672;FS=205.476;InbreedingCoeff=-0.1308;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.49;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,6:47:12:.:.:12,0,1158:.	13	0	3	3
chr16	67930289	67930289	C	A	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon6:c.G529T:p.V177L	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0796351252125	.	.	4.96e-05	0	0	0	0	1.505e-05	0	0.0003	3.88e-05	6	154602	rs776839938	2.258e-05	2.257e-05	1.089e-05	3.438e-05	0.0003	1.61e-05	1.416e-05	0.0002	0.0002	0	0	0	5.038e-05	0	0	2.698e-06	3.312e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	0.046	0.21875	B	0.1	0.30674	B	0.000098	0.51296	D	0.132931	0.987711	0.40637	D	0.45	0.12780	N	-3.28	0.93691	D	.	.	.	0.286	0.32370	-0.8744	0.50196	T	0.155	0.48550	T	9	0.41724035	0.56624	T	0.079635	0.73278	D	.	.	0.796	0.91657	0.953661715142	0.95316	0.6532149870829074	0.65257	0.168452941978	0.18995	0.356478512287	0.18872	T	0.241523	0.79175	T	-0.153251	0.27804	T	-0.161718	0.58196	T	0.29819530248642	0.24929	T	0.765923	0.39533	T	0.3179214	0.54463	0.2125719	0.45732	0.3179214	0.54463	0.2125719	0.45731	-8.92	0.67181	D	.	.	0.605	0.74047	P	.;.	.;.	1.762218	0.22416	15.61	0.99508650858093783	0.68499	0.68640	0.33879	D	AEFGBHCI	0.332058	0.43159	N	-0.23464200900563	0.31721	1.781528	-0.109343675580771	0.35013	2.02062	0.999959466700233	0.48110	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.77	4.81	0.61401	0.842000	0.27280	3.563000	0.39095	0.549000	0.26987	0.077000	0.22263	0.525000	0.25331	0.953000	0.50222	0.0:0.7928:0.1367:0.0704	10.266	0.42637	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	888.33	36	chr16	67930289	.	C	A	888.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.384;DP=761;ExcessHet=0;FS=2.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.004;SOR=0.646	GT:AD:DP:GQ:PL	0/1:62,38:100:99:902,0,1690	18	0	1	0
chr16	67939921	67939921	G	A	exonic	LCAT	.	nonsynonymous SNV	LCAT:NM_000229:exon6:c.C1306T:p.P436S	Fish-eye disease, Autosomal recessive;Norum disease, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.103509042525	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265237849	2.054e-06	2.052e-06	2.724e-06	1.376e-06	2.52e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	2.52e-05	0	0	0	0	2.319e-05	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.371	0.11514	T	0.055	0.46862	T	0.0	0.02946	B	0.0	0.01387	B	0.028127	0.25649	U	0.265604	1	0.08975	N	1.085	0.27262	L	-3.98	0.96277	D	-0.41	0.14000	N	0.234	0.26354	-0.1222	0.79583	T	0.680	0.88937	D	10	0.09171924	0.16089	T	0.103509	0.77758	D	0.192	0.47115	0.284	0.24121	0.868130380872	0.86685	0.5813050137334396	0.58059	0.404985294729	0.41385	0.366939663887	0.20391	T	0.18116	0.53274	T	-0.0593468	0.43010	T	-0.222394	0.52505	T	0.0397857507263621	0.03651	T	0.49605	0.15399	T	0.03881562	0.05243	0.039262563	0.03978	0.03881562	0.05243	0.039262563	0.03978	-4.666	0.32990	T	.	.	0.069	0.03231	B	.	.	1.355779	0.17643	13.28	0.68724288449054283	0.08747	0.14832	0.18608	N	AEFDBHCI	0.200906	0.32761	N	-0.944096136456534	0.09826	0.4667622	-0.965383370864667	0.10569	0.5331012	0.999170021641337	0.38651	0.634777	0.41761	0	0.71359	0.82159	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.78	-1.23	0.08977	-0.148000	0.10203	0.960000	0.22984	0.659000	0.54702	0.000000	0.06391	0.499000	0.25194	0.370000	0.26111	0.1745:0.0:0.4157:0.4098	5.532	0.16275	8	0.99202	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1014.33	33	chr16	67939921	.	G	A	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.241;DP=732;ExcessHet=0;FS=1.738;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.398;SOR=0.47	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1028,0,1452	18	0	1	0
chr16	69119314	69119314	G	T	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.C1115A:p.S372Y,DERPC:NM_001002847:exon3:c.C1115A:p.S372Y,DERPC:NM_001040144:exon3:c.C1115A:p.S372Y,DERPC:NM_001366604:exon3:c.C1115A:p.S372Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0302760778452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.041	0.50514	D	0.969	0.56768	D	0.863	0.61398	P	0.069243	0.21617	N	0.334636	1	0.81001	D	.	.	.	.	.	.	-1.91	0.44471	N	0.313	0.35301	-0.7327	0.58827	T	0.257	0.62744	T	8	0.33894116	0.50990	T	0.030276	0.52622	D	0.218	0.51265	0.129	0.03412	0.774998654722	0.77293	0.22108645309463099	0.22023	.	.	0.48913526535	0.37318	T	0.093378	0.39198	T	0.0691481	0.60746	T	-0.13845	0.60253	T	0.940173506736755	0.61227	D	0.558744	0.19484	T	0.17591359	0.38475	0.34742424	0.60397	0.17591359	0.38475	0.34742424	0.60396	-7.784	0.59588	D	.	.	0.302	0.53127	B	.	.	3.983426	0.58580	24.0	0.99007021054940247	0.50273	0.92055	0.54845	D	AEFDBCI	0.827167	0.74651	D	0.671699108079514	0.77777	6.740807	0.689371530058671	0.81570	7.558089	0.999998997067634	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.190000	0.58162	8.648000	0.77922	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.945000	0.48827	0.0:0.0:1.0:0.0	15.634	0.76685	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	.	.	.	.	.	.	.	.	0.02632	1444.33	38	chr16	69119314	.	G	T	1444.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.539;DP=749;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=2.08;SOR=0.543	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1458,0,1629	18	0	1	0
chr16	69339548	69339548	G	A	exonic	COG8	.	nonsynonymous SNV	COG8:NM_001374871:exon1:c.C5T:p.A2V,COG8:NM_001379261:exon1:c.C5T:p.A2V,COG8:NM_001379262:exon1:c.C5T:p.A2V,COG8:NM_001379263:exon1:c.C5T:p.A2V,COG8:NM_001379264:exon1:c.C5T:p.A2V,COG8:NM_001379265:exon1:c.C5T:p.A2V,COG8:NM_001379266:exon1:c.C5T:p.A2V,COG8:NM_032382:exon1:c.C5T:p.A2V	Congenital disorder of glycosylation, type IIh	1	1517	4	0	0	4	0.00131666	.	.	.	364111	COG8-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0012635,MedGen:C1970021,OMIM:611182,Orphanet:95428|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0283929379399	0.0009	0.000399361	0.0009	0.0001	0.0004	0	0.0010	0.0014	0.0012	0	0.0008926	138	154602	rs151318611	0.0012	0.0012	0.0012	0.0012	0.0014	0.0011	0.0011	0.0014	0.0013	0.0002	0.0005	0.0003	2.52e-05	0.0009	0.0007	0.0014	0.0007	8.125e-05	0.0008	0.0008	0.0010	0.0007	0.0015	0.0007	0.0007	0.0013	0.0012	0.0002	0	0.0005	0.0006	0	0.0008	0	0.0015	0.0009	0	0.0	0.91255	D	0.07	0.43721	T	0.977	0.70673	D	0.532	0.55899	P	0.029956	0.25380	N	0.404996	0.659234	0.81001	D	0.69	0.16971	N	0.84	0.47477	T	0.01	0.06868	N	0.527	0.55626	-0.8443	0.52359	T	0.153	0.48239	T	10	0.035721958	0.01834	T	0.028393	0.51080	D	0.121	0.33580	.	.	0.650570683715	0.64766	0.623728007416969	0.62305	0.931547637929	0.71840	0.570794463158	0.48790	T	0.009768	0.08869	T	-0.295139	0.09126	T	-0.203507	0.54314	T	0.0743788362566226	0.09253	T	0.50065	0.15660	T	0.2525579	0.48272	0.4858937	0.70244	0.2525579	0.48272	0.4858937	0.70244	-7.011	0.54114	T	.	.	0.109	0.45641	B	.;.;.	.;.;.	3.851991	0.55811	23.7	0.99899591552263989	0.97199	0.75108	0.36761	D	ALL	0.478482	0.52103	N	0.287947966311812	0.55535	3.717743	0.310292957676522	0.56142	3.777366	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.16	5.16	0.70563	1.608000	0.36458	7.720000	0.67265	0.672000	0.70159	0.961000	0.33663	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	16.664	0.85106	118	0.95237	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.02632	1083.33	34	chr16	69339548	.	G	A	1083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.804;DP=762;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-1.178;SOR=0.67	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1097,0,937	18	0	1	0
chr16	71850417	71850417	G	A	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.G677A:p.R226Q	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	.	.	0.00359425	0.0086	0.0014	0.0123	0	0	0.0006	0.0105	0.0193	0.0013066	202	154602	rs147505763	0.0014	0.0014	0.0008	0.0020	0.0191	0.0014	0.0013	0.0183	0.0180	3.165e-05	0.0003	7.942e-05	0	0.0001	0.0035	0.0003	0.0014	0.0191	0.0007	0.0007	0.0004	0.0011	0.0176	0.0006	0.0006	0.0146	0.0135	4.813e-05	0	6.538e-05	0	0	9.423e-05	0	0.0003	0.0005	0.0176	0.238	0.17821	T	0.611	0.07666	T	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.914671	0.27430	N	1.445	0.36358	L	1.42	0.33189	T	0.88	0.01664	N	0.316	0.35620	-0.9982	0.30423	T	0.111	0.39888	T	9	0.0040242374	0.00078	T	.	.	.	0.231	0.53208	.	.	0.27132560031	0.26736	0.394877748054683	0.39402	.	.	0.472686946392	0.35050	T	7.7E-4	0.00369	T	-0.341534	0.05281	T	-0.249087	0.49907	T	0.0258004732453649	0.01379	T	0.825917	0.48908	T	0.09584715	0.22566	0.13532075	0.32402	0.09584715	0.22565	0.13532075	0.32401	-2.471	0.05586	T	.	.	0.102	0.18164	B	.	.	4.016529	0.59292	24.1	0.99779433441165644	0.86606	0.91905	0.54517	D	AEFBCI	0.560476	0.56887	D	0.452330450445879	0.64335	4.685708	0.509008187207464	0.68595	5.241779	0.999929681210294	0.46280	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	6.573000	0.73899	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.217	0.93768	83	0.96533	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.006024	0.000000	0.000000	0.026316	0.006098	0.012195	0.02632	1887.33	33	chr16	71850417	.	G	A	1887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=773;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.704;SOR=0.814	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1901,0,1535	18	0	1	0
chr16	72787733	72787733	-	GCCACT	exonic	ZFHX3	.	nonframeshift insertion	ZFHX3:NM_001164766:exon9:c.7800_7801insAGTGGC:p.G2600_G2601insSG,ZFHX3:NM_006885:exon10:c.10542_10543insAGTGGC:p.G3514_G3515insSG	.	278	1218	19	3	4	29	0.0101585	.	.	.	3214869	ZFHX3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0002	0.0006	0.0001	0.0004	0.0006	0.0072	0.0173	0.0001921	5	26028	rs750444062	0.0009	0.0013	0.0006	0.0012	0.0150	0.0008	0.0008	0.0140	0.0136	0.0002	0.0004	0.0002	0	0.0001	0.0043	0.0003	0.0012	0.0150	0.0009	0.0009	0.0005	0.0012	0.0190	0.0007	0.0007	0.0158	0.0146	7.373e-05	0	0.0003	0.0003	0	0.0001	0	0.0004	0	0.0190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3623.29	35	chr16	72787733	.	C	CGCCACT	3623.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.836;DP=1033;ExcessHet=0;FS=1.234;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=22.09;ReadPosRankSum=0.441;SOR=0.826	GT:AD:DP:GQ:PL	0/1:70,94:164:99:3637,0,2565	18	0	1	0
chr16	77212194	77212194	-	G	exonic	SYCE1L	.	frameshift insertion	SYCE1L:NM_001348924:exon6:c.366dupG:p.E123Gfs*21,SYCE1L:NM_001129979:exon8:c.489dupG:p.E164Gfs*21	.	401	1096	24	1	0	26	0.0117223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.00179712	0.0097	0.0008	0	0	0	0.0119	0.0065	0.0109	0.0003074	8	26028	rs371551639	0.0027	0.0026	0.0025	0.0029	0.0087	0.0027	0.0026	0.0069	0.0067	0.0004	0.0014	0.0300	0	0.0002	0.0087	0.0020	0.0038	0.0073	0.0024	0.0024	0.0024	0.0025	0.0064	0.0022	0.0022	0.0047	0.0041	0.0003	0	0.0015	0.0369	0	0.0002	0.0034	0.0024	0.0033	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004474	0.013514	0.000000	0.008333	0.000000	0.000000	0.000000	0.000000	0.02632	657.29	33	chr16	77212194	.	C	CG	657.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=720;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.151;SOR=0.759	GT:AD:DP:GQ:PL	0/1:53,26:79:99:671,0,1655	18	0	1	0
chr16	81164734	81164734	G	A	exonic	PKD1L2	.	unknown	UNKNOWN	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	769.33	52	chr16	81164734	.	G	A	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.725;DP=771;ExcessHet=0;FS=4.59;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.689;SOR=1.267	GT:AD:DP:GQ:PL	0/1:42,33:75:99:783,0,1084	18	0	1	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	0.02632	942.33	38	chr16	88736210	.	C	T	942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.32;DP=747;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.06;SOR=0.892	GT:AD:DP:GQ:PL	0/1:39,36:75:99:956,0,1036	18	0	1	0
chr17	4548212	4548214	AGG	-	exonic	MYBBP1A	.	nonframeshift deletion	MYBBP1A:NM_001105538:exon12:c.1653_1655del:p.L553del,MYBBP1A:NM_014520:exon12:c.1653_1655del:p.L553del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.059e-06	2.052e-06	1.366e-06	2.758e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.994e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1557.29	41	chr17	4548211	.	CAGG	C	1557.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.129;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.898;SOR=0.634	GT:AD:DP:GQ:PL	0/1:64,42:106:99:1571,0,2554	18	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,119:122:99:.:.:4232,325,0:.	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,119:122:99:.:.:4232,325,0:.	1	11	5	2
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V,SLC13A5:NM_001284509:exon2:c.A124G:p.I42V,SLC13A5:NM_177550:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	429.79	198	chr17	6707135	.	T	C	429.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.724;DP=1321;ExcessHet=0.3672;FS=110.264;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.84;SOR=9.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,25:124:99:.:.:110,0,3001:.	16	0	3	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,30:114:99:.:.:170,0,1292:.	6	0	9	4
chr17	8148751	8148751	T	C	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon8:c.A941G:p.Q314R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00558575014129	.	0.000199681	5.774e-05	0	0	0	0	1.5e-05	0	0.0004	5.17e-05	8	154602	rs552612674	2.668e-05	2.668e-05	1.634e-05	3.713e-05	0.0003	1.998e-05	1.754e-05	0.0002	0.0002	2.988e-05	0	0	0	0	0.0002	1.169e-05	1.656e-05	0.0003	1.97e-05	1.969e-05	0	4.03e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.133	0.26409	T	0.116	0.36630	T	0.001	0.07471	B	0.002	0.06944	B	0.003203	0.35270	N	0.310501	0.960736	0.26135	N	0.205	0.09354	N	2.64	0.36146	T	-0.96	0.28497	N	0.218	0.24385	-1.0508	0.14175	T	0.065	0.26702	T	10	0.061063856	0.07599	T	0.005586	0.14409	T	0.067	0.19503	0.333	0.32005	0.291402777868	0.28757	.	.	0.143024331251	0.16135	0.680163741112	0.64292	T	0.105163	0.41539	T	-0.356875	0.04309	T	-0.450079	0.27687	T	0.129561319947243	0.15341	T	0.638236	0.31478	T	0.08060779	0.18479	0.08412632	0.19328	0.08060779	0.18478	0.08412632	0.19328	-5.658	0.43318	T	.	.	0.087	0.10979	B	.;.;.	.;.;.	3.753415	0.53817	23.4	0.99347091834921519	0.60412	0.89576	0.50129	D	AEFBCI	0.415971	0.48461	N	-0.150925540751487	0.35195	2.018508	0.025547066873449	0.40903	2.448705	0.655112332021205	0.22208	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.28	4.19	0.48645	2.169000	0.42061	6.053000	0.53107	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0866:0.0:0.9134	9.526	0.38329	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1258.33	39	chr17	8148751	.	T	C	1258.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.724;DP=765;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.574;SOR=0.784	GT:AD:DP:GQ:PL	0/1:56,59:115:99:1272,0,1482	18	0	1	0
chr17	8174584	8174584	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C307G:p.L103V,TMEM107:NM_001351279:exon4:c.C289G:p.L97V,TMEM107:NM_032354:exon4:c.C307G:p.L103V,TMEM107:NM_183065:exon4:c.C289G:p.L97V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0140421232265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	7.524e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.56456	D	0.022	0.58089	D	0.1	0.73220	B	0.073	0.78936	B	0.047715	0.23319	N	0.382516	1	0.81001	D	2.42	0.70002	M	.	.	.	-1.69	0.43717	N	0.541	0.63459	-0.6637	0.62113	T	0.281	0.65280	T	9	0.3647289	0.53011	T	0.014042	0.33885	T	0.203	0.48915	0.692	0.82938	0.0138822411134	0.00435	0.8337530561023957	0.83334	1.56021622753	0.88027	0.60396283865	0.53463	T	0.050056	0.28486	T	0.174122	0.71501	D	0.012338	0.71133	D	0.854229768616039	0.50534	D	0.905209	0.66592	D	0.1305304	0.30453	0.13564537	0.32471	0.1305304	0.30453	0.13564537	0.32471	-4.093	0.29353	T	0.5639296545248847	0.63149	0.275	0.55788	B	.;.;.	.;.;.	3.724027	0.53232	23.3	0.99695596692605004	0.80248	0.70041	0.34428	D	AEFBHC	0.133706	0.25346	N	0.00100626654297573	0.41900	2.514694	0.0461761497681474	0.41888	2.524	0.998454773613857	0.36996	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	2.34	0.28071	0.677000	0.24942	4.292000	0.42914	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.984000	0.60418	0.18:0.0:0.6634:0.1565	5.934	0.18396	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	62.45	85	chr17	8174584	.	G	C	62.45	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.976;DP=1207;ExcessHet=0.119;FS=169.085;InbreedingCoeff=-0.3331;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.292;SOR=7.053	GT:AD:DP:GQ:PL	0/1:51,7:64:41:41,0,2399	2	0	2	15
chr17	10313279	10313279	C	T	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon30:c.G4060A:p.E1354K	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.848	0.0322051465479	.	.	7.413e-05	0	0	0	0	4.495e-05	0	0.0004	5.82e-05	9	154602	rs746836223	2.805e-05	2.805e-05	2.042e-05	3.575e-05	0.0003	2.086e-05	1.878e-05	0.0002	0.0002	0	0	0	0	0	0.0002	9.892e-06	6.623e-05	0.0003	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.469e-05	0	0.0002	0.0	0.91255	D	0.075	0.42794	T	0.981	0.59675	D	0.971	0.72444	D	.	.	.	.	0.999509	0.47320	D	4.02	0.96873	H	-1.71	0.83157	D	-3.08	0.63323	D	0.821	0.82964	0.968	0.96668	D	0.824	0.94079	D	9	0.8111639	0.80399	D	0.032205	0.54095	D	0.848	0.95286	0.62	0.75461	0.859733259503	0.85837	0.6350089358865529	0.63434	0.180838039361	0.20341	0.768532514572	0.77205	T	0.452876	0.79304	T	0.0187746	0.54216	T	0.105348	0.77262	D	0.92970085144043	0.59393	D	0.935106	0.75644	D	0.62325096	0.73937	0.6987056	0.82252	0.62325096	0.73939	0.6987056	0.82253	-11.784	0.83782	D	.	.	0.782	0.76483	P	.;.;.	.;.;.	4.491201	0.70161	25.5	0.99934983432340951	0.99579	0.90402	0.51549	D	AEFDBHCI	0.907938	0.86260	D	0.896050852636823	0.91565	10.94814	0.751214365198769	0.86247	8.828762	0.999999874366067	0.74766	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.613276	0.41899	0	.	.	3.95	3.95	0.44952	7.785000	0.84334	5.839000	0.50231	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	0.0:1.0:0.0:0.0	16.550	0.84320	87	0.96348	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2726.33	40	chr17	10313279	.	C	T	2726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.748;DP=1335;ExcessHet=0;FS=1.697;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.97;MQRankSum=-0.971;QD=13.11;ReadPosRankSum=1.07;SOR=0.85	GT:AD:DP:GQ:PL	0/1:102,106:208:99:2740,0,2558	18	0	1	0
chr17	10354744	10354744	A	C	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon11:c.T941G:p.F314C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.551	0.0636327057247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.997	0.70673	D	0.981	0.75168	D	.	.	.	.	0.999998	0.08975	N	2.04	0.55661	M	-2.49	0.89145	D	-4.5	0.78135	D	0.795	0.79214	0.208	0.86037	D	0.837	0.94536	D	9	0.87830085	0.87130	D	0.063633	0.69028	D	0.551	0.81427	0.768	0.89530	0.754549913472	0.75232	0.5107117578441809	0.50993	0.541142718122	0.51279	0.674191236496	0.63436	T	0.692214	0.91061	D	0.213	0.75143	D	0.0686144	0.74818	D	0.980490505695343	0.73390	D	0.967003	0.87984	D	0.36040807	0.57867	0.4346703	0.66979	0.36040807	0.57867	0.4346703	0.66979	-13.068	0.89641	D	.	.	0.254	0.53686	B	.;.;.	.;.;.	4.634290	0.73709	26.0	0.99083201784381481	0.52027	0.15523	0.18954	N	AEFBI	0.280110	0.39400	N	0.381702587767209	0.60429	4.231886	0.180384309799047	0.48771	3.08879	4.67964348856194E-4	0.07066	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.55	3.55	0.39770	1.266000	0.32641	11.171000	0.87970	0.756000	0.94297	0.021000	0.19753	1.000000	0.68203	0.954000	0.50415	0.6927:0.0:0.0:0.3073	7.830	0.28500	65	0.97253	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2083.33	34	chr17	10354744	.	A	C	2083.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.341;DP=778;ExcessHet=0;FS=2.064;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.392;SOR=0.514	GT:AD:DP:GQ:PL	0/1:71,81:152:99:2097,0,1997	18	0	1	0
chr17	11747622	11747622	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon32:c.G6466A:p.G2156S	.	.	.	.	.	.	.	.	.	.	.	2677953	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.863	0.0920787092216	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs769107986	1.847e-05	1.847e-05	1.633e-05	2.063e-05	0.0001	1.265e-05	1.084e-05	4.907e-05	3.165e-05	2.987e-05	0	0	0.0001	1.872e-05	0	1.619e-05	3.312e-05	0	6.575e-06	6.568e-06	1.285e-05	0	6.553e-05	0	0	.	.	0	0	6.553e-05	0	0	0	0	0	0	0	0.0	0.91255	D	.	.	.	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.885	0.96017	H	-2.96	0.91956	D	-5.44	0.85397	D	0.955	0.96416	1.090	0.99243	D	0.921	0.97379	D	10	0.9261688	0.91964	D	0.092079	0.75825	D	0.863	0.95839	0.656	0.79379	0.928242341286	0.92751	0.6860965955992235	0.68549	0.133691429425	0.15057	0.734970211983	0.72234	T	0.461152	0.79804	T	0.434197	0.91740	D	0.385918	0.91637	D	0.997166335582733	0.90916	D	0.982768	0.94177	D	0.9115519	0.92439	0.85162216	0.91613	0.9115519	0.92441	0.85162216	0.91613	-9.867	0.73112	D	.	.	0.542	0.66450	A	.;.	.;.	5.490754	0.91483	32	0.99840611958982095	0.92143	0.99812	0.99628	D	AEFBI	0.920965	0.89371	D	0.904842007842353	0.91995	11.17621	0.748174033038234	0.86020	8.757812	0.999985693533444	0.51787	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.5	4.5	0.54382	9.729000	0.98023	11.592000	0.93413	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.450000	0.27895	0.0:0.0:1.0:0.0	17.416	0.87392	842	0.36989	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2057.33	33	chr17	11747622	.	G	A	2057.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=794;ExcessHet=0;FS=2.017;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.214;SOR=0.548	GT:AD:DP:GQ:PL	0/1:80,73:153:99:2071,0,2141	18	0	1	0
chr17	18316639	18316639	A	G	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon1:c.A850G:p.T284A	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00245591141116	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866290269	1.505e-05	1.505e-05	1.633e-05	1.375e-05	0.0003	9.85e-06	8.41e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.799e-05	0	0	6.578e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.653	0.04802	T	0.774	0.04416	T	0.001	0.07471	B	0.001	0.04355	B	0.001040	0.40562	N	0.209748	0.848309	0.28533	N	0.665	0.16292	N	1.98	0.21865	T	-0.97	0.25770	N	0.048	0.01999	-1.0167	0.24787	T	0.040	0.17404	T	10	0.03720495	0.02062	T	0.002456	0.04840	T	0.040	0.10527	0.161	0.06507	0.137902524267	0.13322	0.2253285376348463	0.22447	0.0471783909086	0.05139	0.295840829611	0.09783	T	0.010955	0.09835	T	-0.28581	0.10061	T	-0.648323	0.09072	T	0.041994346635789	0.04054	T	.	.	.	0.059133284	0.11982	0.046758935	0.06587	0.059133284	0.11982	0.046758935	0.06587	-3.601	0.17871	T	.	.	0.062	0.01252	B	.	.	1.286576	0.16869	12.82	0.80132189964626555	0.13059	0.42272	0.26841	N	AEFBCI	0.078816	0.15910	N	-0.196783446085986	0.33268	1.88548	-0.0212028246931142	0.38759	2.288163	0.999968163279344	0.48965	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	6.03	4.93	0.64394	0.238000	0.17782	3.071000	0.36200	0.756000	0.94297	0.790000	0.29595	1.000000	0.68203	0.981000	0.58702	0.6763:0.1516:0.1721:0.0	5.207	0.14618	503	0.75780	Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2569.33	35	chr17	18316639	.	A	G	2569.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.28;DP=1358;ExcessHet=0;FS=4.306;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.83;SOR=0.655	GT:AD:DP:GQ:PL	0/1:91,89:180:99:2583,0,2344	18	0	1	0
chr17	19712705	19712705	G	C	exonic	SLC47A2	.	nonsynonymous SNV	SLC47A2:NM_001099646:exon5:c.C484G:p.P162A,SLC47A2:NM_001256663:exon5:c.C484G:p.P162A,SLC47A2:NM_152908:exon5:c.C484G:p.P162A	.	.	.	.	.	.	.	.	0.0693	0.334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0169895507137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.004	0.74150	D	0.999	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.000000	0.999404	0.46935	D	2.285	0.65182	M	1.28	0.35960	T	-7.66	0.96426	D	0.628	0.67132	-0.5688	0.66063	T	0.232	0.59794	T	10	0.95250046	0.94592	D	0.01699	0.38500	T	0.395	0.71004	0.829	0.93915	0.187945064343	0.18414	0.6120405580100282	0.61136	0.517718159117	0.49631	0.489579796791	0.37380	T	0.224518	0.58898	T	-0.02697	0.47856	T	-0.276517	0.47161	T	0.981997787952423	0.74231	D	0.959504	0.84742	D	0.6920058	0.77620	0.51510775	0.71982	0.6920058	0.77621	0.51510775	0.71983	-15.052	0.95972	D	.	.	0.371	0.57896	A	.;.;.	.;.;.	4.273696	0.65043	24.8	0.91939877165115891	0.21265	0.96299	0.68462	D	AEFDBI	0.686319	0.64803	D	0.415100575700928	0.62251	4.438109	0.235061241834382	0.51802	3.35982	0.992413072426592	0.32831	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.04	4.04	0.46262	6.570000	0.73886	8.383000	0.77070	0.485000	0.22221	1.000000	0.71638	1.000000	0.68203	0.240000	0.23001	0.0:0.0:1.0:0.0	14.039	0.64183	440	0.80101	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1066.33	34	chr17	19712705	.	G	C	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=703;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.043;SOR=1.075	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1080,0,942	18	0	1	0
chr17	21703441	21703441	C	T	exonic	KCNJ18	.	nonsynonymous SNV	KCNJ18:NM_001194958:exon3:c.C655T:p.R219C	.	308	1204	10	0	0	10	0.00413565	.	.	.	442563	Thyrotoxic_periodic_paralysis,_susceptibility_to,_2	MONDO:MONDO:0013193,MedGen:C2750473,OMIM:613239,Orphanet:79102	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1469374904	0.0005	0.0005	0.0005	0.0005	0.0049	0.0004	0.0004	0.0035	0.0030	0.0004	0.0010	0.0009	0.0002	1.905e-05	0.0049	0.0004	0.0013	0.0001	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0010	0.0008	9.615e-05	0	0.0014	0.0003	0.0002	9.407e-05	0	0.0004	0.0009	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-4.22	0.96982	D	-7.7	0.95634	D	0.573	0.59563	1.088	0.99153	D	0.966	0.98907	D	10	0.7075934	0.72837	D	0.347323	0.92176	D	.	.	.	.	0.475741759771	0.47203	0.7646101655628127	0.76410	.	.	0.931935608387	0.99093	D	0.875493	0.97346	D	0.513137	0.94661	D	0.49931	0.94582	D	0.776232659816742	0.44817	D	0.994238	0.98092	D	0.8872623	0.90273	0.8198923	0.89531	0.8872623	0.90275	0.8198923	0.89532	-12.15	0.85574	D	0.9453091472675657	0.97967	0.975	0.90256	P	.	.	5.497384	0.91549	32	0.9991099010833997	0.98022	0.85857	0.45039	D	AEFDGBI	.	.	.	0.727554921786705	0.81438	7.522327	0.589379365543467	0.74175	6.092861	0.99999918003185	0.74766	0.475244	0.09938	2	0.578056	0.33634	0	0.641878	0.46077	1	0.604944	0.38103	0	.	.	5.32	3.18	0.35615	0.012000	0.13184	0.829000	0.21929	0.111000	0.17629	0.014000	0.18986	0.432000	0.24860	0.481000	0.28588	0.3807:0.6193:0.0:0.0	14.142	0.64861	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2449.33	407	chr17	21703441	.	C	T	2449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.9;DP=5457;ExcessHet=0;FS=5.537;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.25;MQRankSum=2.96;QD=7.44;ReadPosRankSum=-0.825;SOR=0.996	GT:AD:DP:GQ:PL	0/1:229,100:329:99:2463,0,7698	18	0	1	0
chr17	34319518	34319518	C	T	exonic	CCL8	.	nonsynonymous SNV	CCL8:NM_005623:exon1:c.C17T:p.A6V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00717409678501	.	.	4.128e-05	0	0	0.0002	0	1.502e-05	0	0.0001	3.23e-05	5	154602	rs757458292	5.474e-06	6.156e-06	6.808e-06	4.126e-06	3.478e-05	2.36e-06	1.7e-06	9.24e-06	4.56e-06	2.988e-05	0	0	2.519e-05	0	0	1.799e-06	1.657e-05	3.478e-05	2.628e-05	2.627e-05	1.284e-05	4.034e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	0.186	0.28860	T	0.204	0.29802	B	0.059	0.26602	B	0.359434	0.04294	N	1.600740	1	0.08975	N	.	.	.	4.04	0.03121	T	.	.	.	0.07	0.04307	-1.0434	0.16294	T	0.061	0.25492	T	8	0.08043036	0.13055	T	0.007174	0.19006	T	0.007	0.00512	0.464	0.53404	0.308904156042	0.30501	0.5090823965885513	0.50830	0.118362538721	0.13327	0.242052748799	0.02978	T	0.053045	0.29333	T	-0.50086	0.00565	T	-0.731526	0.04259	T	0.0689886137843132	0.08509	T	0.20198	0.02320	T	0.033388	0.03547	0.0417354	0.04812	0.033388	0.03546	0.0417354	0.04812	-5.788	0.44470	T	.	.	0.103	0.18539	B	.	.	-0.899542	0.00926	0.035	0.8444963790045632	0.15298	0.05862	0.11808	N	AEFCI	0.049480	0.08552	N	-1.33018495788611	0.03335	0.1487929	-1.49045528523526	0.02422	0.1113687	0.991059405481533	0.32357	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.75	-6.55	0.01686	-2.944000	0.00747	-3.950000	0.02433	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2817:0.2423:0.476	6.032	0.18912	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	.	.	.	.	.	.	.	.	0.02632	719.33	33	chr17	34319518	.	C	T	719.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.102;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=0.791;SOR=0.622	GT:AD:DP:GQ:PL	0/1:52,34:86:99:733,0,1209	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:47,68:115:99:854,0,485	1	0	18	0
chr17	38328681	38328681	C	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G4888C:p.E1630Q	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	0	1516	5	0	1	6	0.00164636	.	.	.	338188	Congenital_stationary_night_blindness_1E|GPR179-related_disorder|not_provided|not_specified	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00357332395772	0.0056	0.00219649	0.0040	0.0012	0.0032	0.0001	0.0009	0.0057	0.0033	0.0027	0.004172	645	154602	rs149998444	0.0064	0.0064	0.0064	0.0063	0.0075	0.0063	0.0062	0.0074	0.0073	0.0009	0.0031	0.0038	5.038e-05	0.0012	0.0014	0.0075	0.0056	0.0030	0.0037	0.0037	0.0041	0.0033	0.0066	0.0035	0.0034	0.0061	0.0059	0.0013	0	0.0022	0.0023	0.0002	0.0006	0	0.0066	0.0033	0.0019	.	.	.	0.404	0.14818	T	.	.	.	.	.	.	0.572189	0.11227	N	0.774326	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.027	0.00942	-1.0496	0.14509	T	0.031	0.13155	T	10	0.0032894015	0.00056	T	0.003573	0.08154	T	.	.	.	.	0.192905019026	0.18896	0.08255204975926442	0.08190	.	.	0.213734447956	0.00980	T	.	.	.	-0.666616	0.00057	T	-0.722362	0.04682	T	0.00154453632691513	0.00016	T	0.256074	0.03980	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07318	B	.;.	.;.	-0.632550	0.01485	0.092	0.41441785518660146	0.02990	0.05045	0.10832	N	AEFBCI	.	.	.	-1.77196853209742	0.00617	0.02661648	-1.7733933196613	0.00848	0.03790213	0.940034133278305	0.27414	0.603402	0.35316	0	0.547309	0.14657	0	0.514364	0.09456	0	0.663205	0.64265	0	.	.	4.7	-3.74	0.04099	0.394000	0.20559	0.190000	0.15733	-0.902000	0.02317	0.000000	0.06391	0.003000	0.18671	0.007000	0.07825	0.0:0.2271:0.3738:0.3991	5.837	0.17868	123	0.95099	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	8996.33	33	chr17	38328681	.	C	G	8996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=1908;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-1.243;SOR=0.652	GT:AD:DP:GQ:PL	0/1:370,343:713:99:9010,0,9168	18	0	1	0
chr17	40168227	40168227	C	A	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon11:c.C1775A:p.A592D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0197518629634	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs751450184	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.106	0.37872	T	0.181	0.29111	B	0.134	0.33146	B	0.000215	0.47681	D	0.175997	0.839755	0.35048	D	0.695	0.17993	N	.	.	.	-1.21	0.30762	N	0.734	0.73465	-0.7676	0.56989	T	0.152	0.48032	T	9	0.4418958	0.58154	T	0.019752	0.42191	T	0.147	0.38986	0.158	0.06178	0.485999240436	0.48233	0.6505043930563911	0.64986	0.733718582525	0.62856	0.59866464138	0.52715	T	0.036472	0.24114	T	0.162108	0.70396	D	0.0105667	0.71018	D	0.737712979316711	0.42615	D	0.864214	0.56114	D	0.42239395	0.62251	0.3575368	0.61246	0.42239395	0.62252	0.3575368	0.61245	-8.23	0.62627	D	.	.	0.397	0.59387	A	.	.	3.812617	0.55007	23.6	0.99606532717285545	0.74516	0.86709	0.46048	D	AEFDGBCI	0.438543	0.49789	N	-0.0301470109952991	0.40493	2.40572	0.131080316538698	0.46146	2.865518	0.999983419004697	0.51787	0.675202	0.55065	0	0.702456	0.74545	0	0.696144	0.63334	0	0.756233	0.99697	0	.	.	5.86	4.88	0.63131	4.144000	0.57825	4.038000	0.41399	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.892000	0.42986	0.0:0.8721:0.1279:0.0	16.919	0.86029	205	0.92010	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1448.33	34	chr17	40168227	.	C	A	1448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.016;DP=748;ExcessHet=0;FS=5.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.807;SOR=1.397	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1462,0,1154	18	0	1	0
chr17	41936508	41936508	C	G	exonic	TTC25	.	nonsynonymous SNV	TTC25:NM_001350319:exon4:c.C433G:p.L145V,TTC25:NM_031421:exon4:c.C433G:p.L145V	Ciliary dyskinesia, primary, 35, Autosomal recessive	426	1095	1	0	0	1	0.000456413	.	.	.	3577497	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	.	.	.	0.0002	0	0	0	0	0.0003	0.0034	6.206e-05	0.0001552	24	154602	rs375976105	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0	4.472e-05	0.0002	0	5.62e-05	0.0017	0.0001	0.0002	0.0002	5.912e-05	5.907e-05	2.57e-05	9.406e-05	0.0001	3.077e-05	2.21e-05	4.766e-05	3.339e-05	0	0	6.56e-05	0	0	0	0	0.0001	0.0005	0	.	.	.	0.215	0.26306	T	0.927	0.51527	P	0.685	0.53610	P	0.000269	0.46590	N	0.185135	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.31925	-0.9450	0.41814	T	0.099	0.37009	T	8	0.12510595	0.23770	T	.	.	.	0.073	0.21317	0.322	0.30226	0.0611884634855	0.05136	0.3578584669814523	0.35699	.	.	0.451012700796	0.32082	T	0.032317	0.22435	T	-0.209304	0.19477	T	-0.23949	0.50849	T	0.730064392089844	0.42213	D	0.761924	0.38711	T	0.08638219	0.20077	0.18654157	0.41833	0.08638219	0.20077	0.18654157	0.41832	-7.546	0.57933	D	.	.	0.089	0.11989	B	.	.	3.431066	0.47690	22.5	0.99296263445403721	0.58469	0.86312	0.45567	D	AEFDBI	.	.	.	-0.0321930653091588	0.40401	2.398633	0.00322577829087911	0.39865	2.370211	0.660294581803633	0.22263	0.106106	0.02776	0	0.060609	0.00678	0	0.125526	0.03468	0	0.058706	0.01089	0	0.569583	0.40332	6.04	1.6	0.22686	0.607000	0.23906	1.804000	0.28906	0.599000	0.40250	0.917000	0.31872	1.000000	0.68203	0.993000	0.69303	0.1208:0.3987:0.3517:0.1288	4.268	0.10220	506	0.75555	.	.	.	.	.	.	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	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	401.33	36	chr17	41936508	.	C	G	401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.246;DP=651;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=0.842;SOR=0.694	GT:AD:DP:GQ:PL	0/1:26,20:46:99:415,0,599	18	0	1	0
chr17	44902549	44902549	A	C	exonic	CCDC103	.	nonsynonymous SNV	CCDC103:NM_001258395:exon4:c.A461C:p.H154P,CCDC103:NM_001258396:exon4:c.A461C:p.H154P,CCDC103:NM_213607:exon4:c.A461C:p.H154P	Ciliary dyskinesia, primary, 17, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	YES	40358	Respiratory_ciliopathies_including_non-CF_bronchiectasis|Primary_ciliary_dyskinesia_17|CCDC103-related_disorder|not_provided|Primary_ciliary_dyskinesia|Infertility_disorder	.|MONDO:MONDO:0013854,MedGen:C3542550,OMIM:614679,Orphanet:244|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.243	0.0461051718083	0.0010	.	0.0013	0.0003	0.0013	0	0.0002	0.0012	0	0.0033	0.0012548	194	154602	rs145457535	0.0019	0.0019	0.0018	0.0019	0.0030	0.0018	0.0018	0.0027	0.0026	0.0001	0.0008	3.826e-05	0	0.0001	0.0009	0.0021	0.0014	0.0030	0.0012	0.0012	0.0012	0.0013	0.0025	0.0011	0.0010	0.0019	0.0018	0.0004	0	0.0008	0	0.0002	0.0002	0	0.0021	0	0.0025	0.053	0.38863	T	0.185	0.28958	T	0.927	0.51527	P	0.596	0.50617	P	0.139495	0.18342	U	0.421589	0.999996	0.08975	N	2.48	0.72069	M	0.45	0.56446	T	-2.4	0.52776	N	0.684	0.79118	-0.8268	0.53505	T	0.209	0.56852	T	10	0.019673496	0.00442	T	0.046105	0.62300	D	0.243	0.54921	.	.	0.656596202622	0.65372	0.7232445532184795	0.72268	0.767658885663	0.64594	0.389887422323	0.23654	T	0.281824	0.65456	T	-0.126471	0.32070	T	0.0434515	0.73154	D	0.790224134922028	0.45704	D	0.592841	0.21881	T	0.84354484	0.86863	0.82285327	0.89722	0.84354484	0.86864	0.82285327	0.89723	-3.332	0.14153	T	0.253428909776544	0.34281	0.390	0.59034	A	.;.;.;.	.;.;.;.	3.468840	0.48388	22.6	0.86143836211831848	0.16341	0.91879	0.54461	D	AEFDGBI	0.605582	0.59625	D	0.195232853304853	0.50971	3.282123	0.136771154438143	0.46445	2.89036	0.999999650123009	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.550183	0.17644	0	.	.	5.64	5.64	0.86480	4.276000	0.58729	11.254000	0.90845	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.113000	0.18872	1.0:0.0:0.0:0.0	14.585	0.67909	764	0.49969	RNA-polymerase II-associated protein 3-like, C-terminal domain;RNA-polymerase II-associated protein 3-like, C-terminal domain;RNA-polymerase II-associated protein 3-like, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2486.33	143	chr17	44902549	.	A	C	2486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.669;DP=1638;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.68;SOR=0.694	GT:AD:DP:GQ:PL	0/1:93,95:188:99:2500,0,2499	18	0	1	0
chr17	45453534	45453534	C	T	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_001352825:exon7:c.G2318A:p.R773H,PLEKHM1:NM_014798:exon7:c.G2318A:p.R773H	Osteopetrosis, autosomal recessive 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0742424834526	.	.	7.06e-05	0	0	0	0	0.0001	0	0	.	.	.	rs770172393	1.718e-05	1.779e-05	1.777e-05	1.659e-05	3.004e-05	1.18e-05	9.97e-06	1.3e-05	1.11e-05	3.004e-05	0	0	0	0	0	1.986e-05	1.664e-05	1.169e-05	6.587e-06	6.568e-06	1.288e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.28	0.64929	M	-0.18	0.65747	T	-2.67	0.57110	D	0.692	0.69737	-0.3728	0.72876	T	0.330	0.69800	T	10	0.7564359	0.76018	D	0.074242	0.71992	D	0.372	0.69102	0.483	0.56462	0.589392501938	0.58614	0.623679946506692	0.62300	1.97030917324	0.93550	0.667167842388	0.62435	T	0.254435	0.62509	T	0.0121077	0.53313	T	-0.0227415	0.68847	D	0.588946197820762	0.35965	D	.	.	.	0.45064166	0.64081	0.24747142	0.50277	0.45064166	0.64082	0.24747142	0.50276	-10.829	0.78712	D	.	.	0.234	0.46791	B	.	.	5.244668	0.88051	29.5	0.99954408531625627	0.99963	0.98131	0.79864	D	AEFBI	0.858704	0.77626	D	0.626280304014912	0.74841	6.201826	0.618975700982049	0.76317	6.469048	0.999896722951531	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	7.492000	0.80315	7.638000	0.63056	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	16.891	0.85955	368	0.84463	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	.	.	.	.	.	.	.	.	0.02632	544.33	35	chr17	45453534	.	C	T	544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=619;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=35.35;MQRankSum=1.48;QD=18.14;ReadPosRankSum=0.524;SOR=0.665	GT:AD:DP:GQ:PL	0/1:13,17:30:99:558,0,355	18	0	1	0
chr17	47818326	47818326	G	A	exonic	OSBPL7	.	nonsynonymous SNV	OSBPL7:NM_145798:exon7:c.C541T:p.R181W	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0139297473546	0.0038	0.00139776	0.0037	0.0011	0.0032	0	0.0006	0.0054	0.0022	0.0024	0.0037386	578	154602	rs35767160	0.0049	0.0049	0.0049	0.0048	0.0066	0.0048	0.0047	0.0055	0.0055	0.0013	0.0035	0.0022	5.038e-05	0.0008	0.0066	0.0057	0.0045	0.0023	0.0037	0.0037	0.0040	0.0034	0.0059	0.0034	0.0033	0.0054	0.0052	0.0011	0	0.0048	0.0017	0	0.0014	0.0102	0.0059	0.0057	0.0014	0.002	0.72154	D	0.01	0.76473	D	0.995	0.67487	D	0.609	0.51053	P	0.142461	0.18243	N	0.581696	0.896804	0.36077	D	1.39	0.34934	L	2.22	0.18248	T	-0.08	0.08187	N	0.531	0.56662	-1.0804	0.07272	T	0.038	0.16376	T	10	0.006904006	0.00157	T	0.01393	0.33698	T	0.136	0.36778	.	.	0.539206206136	0.53571	.	.	0.79841149638	0.66131	0.402611881495	0.25433	T	0.033292	0.22852	T	-0.461007	0.00969	T	-0.433062	0.29587	T	0.0253166248869809	0.01314	T	0.905609	0.70480	D	0.092972144	0.21824	0.08232786	0.18780	0.092972144	0.21824	0.08232786	0.18779	-6.223	0.48109	T	.	.	0.112	0.25100	B	.;.;.	.;.;.	4.009767	0.59140	24.1	0.95042371118992897	0.26050	0.96615	0.70031	D	AEFDBI	0.404074	0.47750	N	0.157886941879648	0.49186	3.121817	0.187488168569878	0.49160	3.122643	0.994836958884407	0.33823	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.97	5.0	0.66209	1.849000	0.38958	6.631000	0.56152	-0.126000	0.13398	0.991000	0.37257	1.000000	0.68203	0.494000	0.28882	0.0:0.0:0.848:0.152	13.970	0.63743	336	0.86165	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.015152	0.008152	0.002924	0.000000	0.000000	0.006098	0.015152	0.02632	1140.33	35	chr17	47818326	.	G	A	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.057;DP=738;ExcessHet=0;FS=2.708;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.157;SOR=0.456	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1154,0,1277	18	0	1	0
chr17	47847364	47847364	C	T	exonic	SP6	.	nonsynonymous SNV	SP6:NM_001258248:exon2:c.G1066A:p.A356T,SP6:NM_199262:exon2:c.G1066A:p.A356T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00899772677431	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454437114	6.874e-07	1.368e-06	0	1.383e-06	1.168e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	0.07235	T	0.589	0.08245	T	0.942	0.52977	P	0.094	0.30180	B	0.115317	0.19239	N	0.372399	1	0.08975	N	0	0.06538	N	3.11	0.08194	T	0.24	0.04533	N	0.063	0.03613	-0.9395	0.42695	T	0.007	0.02399	T	10	0.07872808	0.12583	T	0.008998	0.23702	T	0.070	0.20419	0.193	0.10437	0.423836183345	0.42003	0.19092959522825945	0.19010	0.750607852197	0.63758	0.516041755676	0.41069	T	0.063193	0.32111	T	-0.505493	0.00532	T	-0.781114	0.02420	T	0.0533205750421684	0.06074	T	0.368163	0.08622	T	0.040068015	0.05651	0.06865189	0.14364	0.040068015	0.05650	0.06865189	0.14364	-5.016	0.37013	T	.	.	0.083	0.10594	B	.;.	.;.	1.498676	0.19271	14.18	0.836184785408433	0.14825	0.15045	0.18716	N	AEFDBHCIJ	0.079218	0.15997	N	-0.970156266006753	0.09245	0.4367763	-1.01250616965944	0.09510	0.4735362	0.99995551447007	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	4.4	2.42	0.28720	0.206000	0.17174	2.168000	0.31032	-0.191000	0.09375	0.001000	0.13787	0.997000	0.33255	0.053000	0.15439	0.0:0.7847:0.0:0.2153	6.721	0.22521	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	.	.	.	.	.	.	.	.	0.02632	869.33	34	chr17	47847364	.	C	T	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.832;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.5;ReadPosRankSum=0.233;SOR=0.859	GT:AD:DP:GQ:PL	0/1:14,33:47:99:883,0,313	18	0	1	0
chr17	47980707	47980707	A	T	exonic	CDK5RAP3	.	nonsynonymous SNV	CDK5RAP3:NM_001278198:exon10:c.A517T:p.M173L,CDK5RAP3:NM_001278216:exon10:c.A517T:p.M173L,CDK5RAP3:NM_001278217:exon11:c.A931T:p.M311L,CDK5RAP3:NM_001278197:exon12:c.A1267T:p.M423L,CDK5RAP3:NM_176096:exon12:c.A1192T:p.M398L	.	.	.	.	.	.	.	.	.	.	.	2376867	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.00612336454792	8e-05	.	8.28e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs376202323	2.736e-05	2.736e-05	3.131e-05	2.338e-05	0.0007	2.062e-05	1.816e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0007	2.878e-05	4.967e-05	0	4.6e-05	4.597e-05	3.854e-05	5.381e-05	0.0001	2.109e-05	1.527e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.711	0.06106	T	0.709	0.05544	T	0.0	0.02946	B	0.003	0.08700	B	0.000065	0.52346	D	0.163844	0.890769	0.35947	D	-0.28	0.03718	N	1.33	0.35031	T	0.46	0.03140	N	0.197	0.21710	-1.0267	0.21527	T	0.030	0.13067	T	10	0.08244833	0.13609	T	0.006123	0.16023	T	0.086	0.25016	0.405	0.43738	0.412587454835	0.40873	0.2603622007908815	0.25949	0.17368640445	0.19556	0.41576051712	0.27252	T	0.00465	0.04060	T	-0.297908	0.08858	T	-0.509335	0.21383	T	0.319871693849564	0.25817	T	0.723828	0.33737	T	0.050756607	0.09218	0.05496916	0.09554	0.050756607	0.09217	0.05496916	0.09554	-1.793	0.02488	T	.	.	0.146	0.32202	B	.;.	.;.	2.658868	0.34638	19.68	0.87641879446451765	0.17375	0.90164	0.51127	D	AEFDBHIJ	0.492170	0.52892	N	-0.36391223706334	0.26763	1.463187	-0.118966919833321	0.34625	1.993884	0.999332502954542	0.39185	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	4.37	0.51830	1.812000	0.38590	2.657000	0.33854	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.5507:0.0:0.2084:0.2408	1.970	0.03197	731	0.54177	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2744.33	38	chr17	47980707	.	A	T	2744.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.8;DP=827;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.668;SOR=0.67	GT:AD:DP:GQ:PL	0/1:105,98:203:99:2758,0,2912	18	0	1	0
chr17	50551629	50551629	C	-	exonic	SPATA20	.	frameshift deletion	SPATA20:NM_001258372:exon12:c.1647delC:p.R550Afs*2,SPATA20:NM_001258373:exon13:c.1515delC:p.R506Afs*2,SPATA20:NM_022827:exon13:c.1695delC:p.R566Afs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.379e-06	1.368e-06	2.734e-06	0	0.0003	2.3e-07	9e-08	6.131e-05	2.536e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1072.29	35	chr17	50551628	.	GC	G	1072.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.73;DP=710;ExcessHet=0;FS=6.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.45;ReadPosRankSum=-2.244;SOR=0.165	GT:AD:DP:GQ:PL	0/1:17,33:50:99:1086,0,485	18	0	1	0
chr17	63699057	63699057	C	T	exonic	LIMD2	.	nonsynonymous SNV	LIMD2:NM_030576:exon3:c.G55A:p.G19S	.	404	1109	9	0	0	9	0.00404131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.018259786244	0.0010	0.000199681	0.0013	0.0006	0.0012	0	0.0002	0.0019	0.0016	0.0006	0.0010867	168	154602	rs199625729	0.0020	0.0020	0.0020	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0007	0	0	9.85e-05	0.0017	0.0025	0.0014	0.0007	0.0012	0.0012	0.0014	0.0011	0.0023	0.0011	0.0010	0.0020	0.0019	0.0003	0	0.0006	0.0003	0	9.459e-05	0.0070	0.0023	0.0005	0.0004	1.0	0.00964	T	1.0	0.10245	T	0.001	0.07471	B	0.0	0.01387	B	0.171426	0.17363	N	0.543405	0.999837	0.49637	D	-0.28	0.03718	N	-0.93	0.75215	T	1.68	0.00591	N	0.117	0.19995	-0.9453	0.41764	T	0.101	0.37392	T	10	0.0048351884	0.00103	T	0.01826	0.40264	T	0.136	0.36778	.	.	0.402471007487	0.39861	0.2260512552945152	0.22520	0.498502261291	0.48324	0.520569205284	0.41707	T	0.006384	0.05814	T	-0.519586	0.00442	T	-0.525602	0.19728	T	0.00236466595125569	0.00024	T	0.519848	0.16911	T	0.024026211	0.01196	0.039776552	0.04147	0.024026211	0.01195	0.039776552	0.04147	-3.156	0.11951	T	.	.	0.071	0.10352	B	.;.;.;.;.	.;.;.;.;.	0.095564	0.04982	1.543	0.87350829412901176	0.17165	0.00882	0.03481	N	AEFDGBHCI	0.122202	0.23724	N	-1.68890620482619	0.00882	0.03816228	-1.67237802133155	0.01265	0.05700937	0.999999984683324	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.33	-4.88	0.02884	-0.422000	0.07110	-0.206000	0.10898	-0.278000	0.06506	0.000000	0.06391	0.028000	0.21151	0.800000	0.37734	0.0:0.2608:0.0:0.7392	11.562	0.50033	890	0.26919	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.003788	0.02632	554.33	33	chr17	63699057	.	C	T	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=517;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=1.04;SOR=0.377	GT:AD:DP:GQ:PL	0/1:19,19:38:99:568,0,468	18	0	1	0
chr17	63972389	63972389	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon2:c.G355A:p.V119I	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	.	345424	Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|Paramyotonia_congenita_of_Von_Eulenburg|Familial_hyperkalemic_periodic_paralysis|Congenital_myasthenic_syndrome_16|Hypokalemic_periodic_paralysis,_type_1|not_specified|not_provided	MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.229	0.0147987355601	0.0030	0.00119808	0.0026	0.0003	0.0003	0.0001	0.0015	0.0041	0	0.0015	0.0025938	401	154602	rs41280110	0.0029	0.0029	0.0030	0.0029	0.0034	0.0029	0.0028	0.0033	0.0033	0.0005	0.0008	0.0002	2.519e-05	0.0020	0.0021	0.0034	0.0028	0.0018	0.0023	0.0023	0.0023	0.0023	0.0038	0.0021	0.0020	0.0034	0.0033	0.0006	0.0033	0.0019	0.0003	0	0.0017	0.0034	0.0038	0.0005	0.0014	0.367	0.11659	T	0.105	0.38016	T	0.0	0.02946	B	0.001	0.04355	B	0.387199	0.04456	N	1.351180	1	0.08975	N	-1.245	0.00777	N	-3.85	0.95859	D	-0.28	0.11547	N	0.106	0.09066	-0.3603	0.73254	T	0.501	0.81130	D	10	0.013251126	0.00282	T	0.014799	0.35150	T	0.229	0.52916	.	.	0.489036454283	0.48535	0.35322824583488865	0.35236	0.203998506954	0.22813	0.238887071609	0.02691	T	0.292034	0.66476	T	-0.480313	0.00736	T	-0.462447	0.26333	T	0.000779120454168625	0.00007	T	0.712529	0.32403	T	0.048998214	0.08630	0.029725162	0.01343	0.042309113	0.06394	0.0311093	0.01654	-3.925	0.22677	T	0.04421176843988806	0.00522	0.062	0.01348	B	.	.	-1.298632	0.00439	0.009	0.89363671462215311	0.18733	0.05778	0.11711	N	AEFGBCI	0.053774	0.09720	N	-1.78519706803549	0.00582	0.02508743	-1.71619705794329	0.01068	0.04792572	0.966881692333934	0.28936	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.23	-0.98	0.09747	-0.095000	0.11043	-9.184000	0.00855	-1.986000	0.00458	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.1273:0.1785:0.4109:0.2833	2.028	0.03309	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.011364	0.05263	5595.83	42	chr17	63972389	.	C	T	5595.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.19;DP=1048;ExcessHet=0.119;FS=2.858;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.529;SOR=0.848	GT:AD:DP:GQ:PL	0/1:76,113:189:99:3118,0,1841	17	0	2	0
chr17	65053567	65053567	T	C	exonic	GNA13	.	nonsynonymous SNV	GNA13:NM_001282425:exon2:c.A160G:p.I54V,GNA13:NM_006572:exon2:c.A445G:p.I149V	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.0632272270042	0.0002	0.000399361	0.0002	0	0.0003	0.0002	0	0.0002	0	0.0005	0.0002199	34	154602	rs201626569	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	8.963e-05	0.0002	0	0.0003	1.872e-05	0.0014	0.0003	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	6.535e-05	0	0	0	0	0.0005	0	0.0002	0.088	0.35349	T	0.125	0.37037	T	0.874	0.48047	P	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.44	0.36004	L	-2.66	0.90272	D	-0.59	0.17624	N	0.359	0.40063	0.708	0.93271	D	0.786	0.92733	D	10	0.15986237	0.30025	T	0.063227	0.68900	D	0.577	0.82912	.	.	0.738346921943	0.73600	0.5162074885067635	0.51543	0.710361414038	0.61678	0.593113064766	0.51934	T	0.388412	0.74909	T	-0.117855	0.33475	T	-0.0708075	0.65568	T	0.0831566354084816	0.10385	T	0.783222	0.42574	T	0.21397711	0.43790	0.114751406	0.27700	0.21397711	0.43790	0.114751406	0.27699	-4.556	0.36644	T	.	.	0.107	0.19879	B	.;.	.;.	2.922234	0.38794	20.8	0.99662929608073791	0.78074	0.96961	0.71893	D	AEFDBHI	0.573232	0.57650	D	0.544900695550755	0.69771	5.40467	0.558676749192964	0.72004	5.741852	0.999999999999393	0.74766	0.744818	0.98587	0	0.672317	0.65289	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	3.968000	0.56516	2.407000	0.32622	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.496	0.75386	603	0.67726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1612.33	33	chr17	65053567	.	T	C	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.304;DP=734;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.981;SOR=0.813	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1626,0,1402	18	0	1	0
chr17	74443910	74443910	C	A	exonic	GPRC5C	.	nonsynonymous SNV	GPRC5C:NM_001366261:exon3:c.C1144A:p.P382T,GPRC5C:NM_001366262:exon3:c.C1144A:p.P382T,GPRC5C:NM_018653:exon3:c.C1144A:p.P382T,GPRC5C:NM_022036:exon3:c.C1144A:p.P382T	.	428	1062	31	1	0	33	0.015299	0.0016	0.084	.	2808331	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	.	0.0015	0.00299521	0.0028	0.0003	0.0034	0	0.0003	0.0026	0.0055	0.0076	0.0026132	404	154602	rs142708564	0.0020	0.0020	0.0018	0.0023	0.0081	0.0020	0.0019	0.0076	0.0074	0.0005	0.0026	0.0036	2.522e-05	0.0006	0.0064	0.0016	0.0028	0.0081	0.0018	0.0018	0.0017	0.0019	0.0100	0.0016	0.0016	0.0077	0.0069	0.0007	0	0.0029	0.0046	0	0.0003	0.0136	0.0017	0.0057	0.0100	0.189	0.21224	T	0.35	0.17478	T	0.007	0.14184	B	0.007	0.12992	B	0.038911	0.24230	N	0.412978	0.647707	0.81001	D	.	.	.	2.27	0.17431	T	-1.11	0.28703	N	0.239	0.36779	-1.0620	0.11263	T	0.037	0.15943	T	10	0.004352629	0.00088	T	.	.	.	0.063	0.18251	.	.	0.0884992946249	0.08302	.	.	0.322169024805	0.34410	0.363022744656	0.19826	T	0.035498	0.23742	T	-0.483618	0.00705	T	-0.462754	0.26300	T	0.0174253554794817	0.00479	T	0.827917	0.49191	T	.	.	.	.	.	.	.	.	-4.327	0.28554	T	.	.	0.077	0.06387	B	.;.;.	.;.;.	1.828629	0.23235	15.94	0.78202249606816954	0.12199	0.48080	0.28127	N	AEFGBCI	0.596388	0.59058	D	-0.313090028819374	0.28649	1.582026	-0.211977405103111	0.31103	1.757264	0.999999286446192	0.74766	0.643511	0.44296	0	0.633656	0.55848	0	0.688494	0.62686	0	0.604944	0.38103	0	.	.	5.18	5.18	0.71140	1.896000	0.39421	1.768000	0.28610	0.599000	0.40250	0.639000	0.28076	1.000000	0.68203	0.114000	0.18915	0.0:1.0:0.0:0.0	16.203	0.81921	692	0.58729	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.025253	0.009511	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	1677.83	36	chr17	74443910	.	C	A	1677.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.143;DP=784;ExcessHet=0.119;FS=1.192;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.212;SOR=0.811	GT:AD:DP:GQ:PL	0/1:60,38:98:99:843,0,1605	17	0	2	0
chr17	75517200	75517200	C	G	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon4:c.C325G:p.R109G	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	0	1496	25	1	0	27	0.00894336	.	.	.	194562	Pontoneocerebellar_hypoplasia|not_specified|not_provided	MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.267	.	0.0010	0.00678914	0.0056	0.0005	0.0014	0	0	0.0017	0	0.0269	0.0030853	477	154602	rs148146916	0.0019	0.0020	0.0014	0.0025	0.0213	0.0019	0.0018	0.0205	0.0201	8.998e-05	0.0006	0.0037	0	0	0.0030	0.0007	0.0023	0.0213	0.0013	0.0013	0.0010	0.0017	0.0230	0.0012	0.0011	0.0195	0.0182	0.0002	0	0.0007	0.0029	0	0	0	0.0009	0.0005	0.0230	0.018	0.59928	D	0.025	0.70582	D	0.047	0.21998	B	0.059	0.26602	B	0.001481	0.38855	N	0.242379	0.608078	0.30884	N	1.445	0.36358	L	-1.81	0.83970	D	-3.54	0.68651	D	0.367	0.40864	-0.1094	0.79881	T	0.417	0.76374	T	10	0.008551449	0.00194	T	.	.	.	0.267	0.58126	.	.	0.926805799581	0.92606	0.5458032042608242	0.54506	0.608453772384	0.55612	0.317740082741	0.13079	T	0.267709	0.63976	T	-0.270992	0.11647	T	-0.145782	0.59615	T	0.0687578601698477	0.08477	T	0.89651	0.64256	D	0.4808818	0.65953	0.4186894	0.65885	0.42776343	0.62606	0.32823434	0.58713	-9.697	0.72078	D	0.16647951875274042	0.20701	0.150	0.42706	B	.;.	.;.	3.664373	0.52068	23.2	0.91801488433305067	0.21107	0.88460	0.48398	D	ALL	0.737126	0.68241	D	0.0483153141468707	0.44064	2.687416	0.164314731901251	0.47905	3.013866	0.999999999166162	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.851219	0.99655	0	0.603991	0.37454	0	.	.	5.3	5.3	0.74745	3.810000	0.55318	2.609000	0.33566	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.989000	0.64315	0.29:0.71:0.0:0.0	12.176	0.53493	976	0.04745	tRNA-splicing endonuclease, subunit Sen54, N-terminal;tRNA-splicing endonuclease, subunit Sen54, 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	0.004053	0.000000	0.001366	0.000000	0.000000	0.000000	0.003106	0.022727	0.02632	2957.33	40	chr17	75517200	.	C	G	2957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=1734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.063;SOR=0.664	GT:AD:DP:GQ:PL	0/1:116,121:237:99:2971,0,2620	18	0	1	0
chr17	75620337	75620337	C	T	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon47:c.C7421T:p.P2474L	.	414	1097	11	0	0	11	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0007	0	0	0	0	0	0	0.0013	0.0001358	21	154602	rs139045226	0.0005	0.0004	0.0004	0.0006	0.0020	0.0004	0.0004	0.0010	0.0009	6.327e-05	0.0008	9.987e-05	0	0	0.0020	0.0004	0.0007	0.0012	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.221e-05	0	0.0007	0.0003	0	0	0	0.0004	0.0005	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.367	0.57092	.	.	.	.	.	.	.	0.07581034	0.11763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117541	0.43769	T	.	.	.	.	.	.	.	.	.	0.880112	0.59716	D	0.3026054	0.53137	0.34946382	0.60571	0.3026054	0.53137	0.34946382	0.60570	-11.46	0.82121	D	.	.	0.241	0.57442	B	.;.;.	.;.;.	4.429073	0.68673	25.3	0.89972232774819205	0.19266	0.83607	0.42713	D	AEFGBHCI	.	.	.	.	.	.	.	.	.	0.999999999999638	0.74766	0.184171	0.03992	0	0.221468	0.04790	0	0.216804	0.04610	0	0.109439	0.03173	0	0.946516	0.61129	4.57	4.57	0.55860	1.855000	0.39018	7.595000	0.61372	0.549000	0.26987	0.899000	0.31403	1.000000	0.68203	0.188000	0.21541	0.0:1.0:0.0:0.0	15.895	0.79108	976	0.04745	SH3 domain|SH3 domain|SH3 domain|MYO15B, SH3 domain;SH3 domain|SH3 domain|SH3 domain|MYO15B, SH3 domain;SH3 domain|SH3 domain|SH3 domain|MYO15B, SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1876.33	44	chr17	75620337	.	C	T	1876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=837;ExcessHet=0;FS=7.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0;SOR=1.326	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1890,0,1433	18	0	1	0
chr17	75843489	75843489	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon2:c.G148A:p.E50K	Hemophagocytic lymphohistiocytosis, familial, 3	.	.	.	.	.	.	.	.	.	YES	3846010	Familial_hemophagocytic_lymphohistiocytosis_3	MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.0255801772335	.	.	2.29e-05	0	0	0	0	4.034e-05	0	0	1.29e-05	2	154602	rs756652448	5.487e-06	6.156e-06	4.092e-06	6.897e-06	7.201e-06	2.36e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.201e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.039	0.52727	D	0.001	0.07471	B	0.001	0.04355	B	0.004061	0.34172	N	0.132235	0.858147	0.28397	N	1.415	0.35607	L	-0.33	0.76168	T	-0.31	0.14782	N	0.264	0.29889	-0.9812	0.34724	T	0.167	0.50534	T	10	0.10441393	0.19248	T	0.02558	0.48542	D	0.120	0.33359	0.316	0.29258	0.7388678204	0.73653	0.25424502465607324	0.25338	0.110598979453	0.12488	0.517856657505	0.41324	T	0.064106	0.32349	T	-0.0757736	0.40401	T	-0.331134	0.41343	T	0.0894659207866369	0.11153	T	0.737926	0.35508	T	0.05872773	0.11850	0.05617314	0.09989	0.05872773	0.11850	0.05617314	0.09988	-5.363	0.40562	T	0.10851873376571088	0.08955	0.080	0.33342	B	.;.;.;.;.	.;.;.;.;.	1.729097	0.22006	15.44	0.99207809372682221	0.55503	0.22718	0.21840	N	AEFDBHCI	0.193742	0.32085	N	-0.639934911475836	0.17753	0.916248	-0.608460153328506	0.19276	1.033464	0.999999946500429	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.33	3.36	0.37579	0.598000	0.23774	2.123000	0.30732	-0.171000	0.11205	0.000000	0.06391	0.974000	0.29927	0.003000	0.05239	0.1816:0.5431:0.1761:0.0992	3.028	0.05729	929	0.16858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	733.33	42	chr17	75843489	.	C	T	733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=733;ExcessHet=0;FS=5.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.437;SOR=1.296	GT:AD:DP:GQ:PL	0/1:28,25:53:99:747,0,832	18	0	1	0
chr17	75917943	75917943	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon21:c.G2374A:p.E792K	.	424	1079	19	0	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0007	0.00579073	0.0054	0.0002	0.0016	0	0	0.0014	0.0051	0.0309	0.0033505	518	154602	rs200931077	0.0020	0.0020	0.0014	0.0026	0.0229	0.0019	0.0019	0.0220	0.0217	0.0001	0.0008	0.0079	2.535e-05	1.921e-05	0.0049	0.0005	0.0029	0.0229	0.0014	0.0014	0.0011	0.0017	0.0251	0.0012	0.0012	0.0214	0.0201	0.0001	0	0.0008	0.0063	0	0	0.0068	0.0006	0.0028	0.0251	.	.	.	0.242	0.24264	T	0.067	0.23653	B	0.015	0.17295	B	.	.	.	.	0.571568	0.31174	N	0.83	0.20963	L	2.07	0.20387	T	.	.	.	0.21	0.23380	-1.0096	0.27043	T	0.027	0.11663	T	9	0.0032892823	0.00056	T	.	.	.	.	.	.	.	0.178374595973	0.17440	0.526060498412847	0.52530	.	.	0.384982585907	0.22961	T	0.035175	0.23617	T	-0.584967	0.00180	T	-0.595456	0.13196	T	0.0109724181880645	0.00158	T	0.878912	0.59457	D	0.028503684	0.02197	0.09198557	0.21655	0.028503684	0.02196	0.09198557	0.21654	-9.338	0.71400	D	.	.	0.083	0.09143	B	.;.;.	.;.;.	1.349720	0.17571	13.24	0.99304965169442605	0.58759	0.22981	0.21927	N	AEFBHCI	0.092865	0.18795	N	-0.878510925890006	0.11355	0.547524	-0.857239898997625	0.13114	0.6784976	3.55692540363587E-4	0.06668	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.29	-1.05	0.09523	0.509000	0.22414	-0.186000	0.11084	0.587000	0.30956	0.061000	0.21800	0.000000	0.08366	0.596000	0.31288	0.0:0.5678:0.2175:0.2147	7.778	0.28214	828	0.39726	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.001362	0.005848	0.000000	0.000000	0.003049	0.034091	0.02632	686.33	35	chr17	75917943	.	C	T	686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.73;DP=696;ExcessHet=0;FS=2.622;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.856;SOR=0.376	GT:AD:DP:GQ:PL	0/1:21,26:47:99:700,0,513	18	0	1	0
chr17	76140348	76140348	C	G	exonic	FOXJ1	.	nonsynonymous SNV	FOXJ1:NM_001454:exon2:c.G48C:p.E16D	.	404	1108	10	0	0	10	0.00449236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	0.0047	0.00678914	0.0046	0.0408	0	0	0	0.0002	0	0.0004	0.0011061	171	154602	rs199833164	0.0005	0.0006	0.0006	0.0005	0.0193	0.0005	0.0005	0.0179	0.0174	0.0193	0.0012	0	0	0	0.0062	4.048e-05	0.0017	0.0001	0.0060	0.0060	0.0062	0.0058	0.0206	0.0057	0.0056	0.0194	0.0190	0.0206	0	0.0023	0	0	0	0.0034	0.0002	0.0061	0	0.026	0.46910	D	0.393	0.15355	T	0.808	0.45299	P	0.099	0.30579	B	0.008805	0.30655	N	0.251491	0.782543	0.29316	N	1.245	0.31408	L	-3.31	0.93835	D	-0.76	0.21215	N	0.1	0.08227	-0.4755	0.69530	T	0.192	0.54521	T	10	0.0027004182	0.00042	T	.	.	.	0.230	0.53062	0.081	0.00694	0.543491909164	0.54003	0.22033655141293154	0.21948	0.957395983082	0.72880	0.796161949635	0.81378	T	0.229721	0.59562	T	-0.365483	0.03829	T	-0.283488	0.46446	T	0.0200599221288951	0.00707	T	0.506749	0.16047	T	0.09780145	0.23060	0.10713539	0.25785	0.09780145	0.23059	0.10713539	0.25785	-4.525	0.31214	T	.	.	0.078	0.06896	B	.	.	2.146192	0.27331	17.43	0.99560439928982758	0.71707	0.23138	0.21978	N	AEFDBHCI	0.124337	0.24035	N	-0.422880859376139	0.24670	1.333668	-0.42928983426059	0.24142	1.320383	0.991013903793373	0.32344	0.59774	0.34471	0	0.596491	0.49125	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.61	1.6	0.22686	0.036000	0.13706	.	.	0.583000	0.30283	0.033000	0.20612	0.997000	0.33255	0.996000	0.76049	0.0:0.617:0.1802:0.2027	5.582	0.16537	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.007284	0.016667	0.005587	0.018072	0.000000	0.009259	0.000000	0.000000	0.02632	1387.33	37	chr17	76140348	.	C	G	1387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.955;DP=738;ExcessHet=0;FS=0.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=1.44;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,37:81:99:0|1:76140348_C_G:1401,0,1719:76140348	18	0	1	0
chr17	79784633	79784633	T	C	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.T1190C:p.I397T	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.002559162264	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782090812	3.424e-06	4.104e-06	4.088e-06	2.753e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	0	0	1.315e-05	1.313e-05	1.285e-05	1.345e-05	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.471e-05	0	0	1.0	0.00964	T	0.734	0.05090	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.00162	N	7739.210000	1	0.08975	N	-1.905	0.00237	N	.	.	.	0.56	0.02680	N	0.009	0.00081	-0.9934	0.31722	T	0.034	0.14596	T	9	0.028960407	0.01024	T	0.002559	0.05150	T	0.059	0.16972	0.119	0.02647	0.0675242888579	0.06100	0.06858714667278173	0.06796	0.0441823419456	0.04759	0.315997481346	0.12815	T	0.028917	0.20835	T	-0.363708	0.03924	T	-0.760218	0.03104	T	0.0319956947165402	0.02305	T	0.260474	0.04175	T	0.050462827	0.09121	0.06114123	0.11758	0.050462827	0.09121	0.06114123	0.11758	-0.82	0.00821	T	0.06418890275321325	0.02026	0.044	0.00035	B	.	.	-0.518985	0.01808	0.141	0.26054480016887993	0.01230	0.00773	0.03184	N	AEFBCI	0.021307	0.00934	N	-1.63257367864832	0.01110	0.04821918	-1.57026568426513	0.01840	0.08383023	0.99366334542703	0.33306	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.17	-0.453	0.11592	0.027000	0.13512	0.508000	0.19055	-1.745000	0.00696	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4219:0.3527:0.2254	6.793	0.22898	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	36	chr17	79784633	.	T	C	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.496;DP=784;ExcessHet=0;FS=4.238;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.529;SOR=0.348	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1051,0,1234	18	0	1	0
chr17	80036685	80036685	C	G	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon1:c.C23G:p.A8G,CCDC40:NM_001330508:exon1:c.C23G:p.A8G,CCDC40:NM_017950:exon1:c.C23G:p.A8G	Ciliary dyskinesia, primary, 15	4	1515	3	0	0	3	0.00098912	.	.	.	997996	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.0332418454089	.	.	6.866e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs751298635	1.224e-05	1.573e-05	7.519e-06	1.712e-05	0.0012	7.24e-06	5.86e-06	0.0005	0.0004	0	0	0	0	0	0.0012	7.693e-06	3.705e-05	0	3.952e-05	3.945e-05	6.438e-05	1.348e-05	6.553e-05	1.719e-05	1.132e-05	4.88e-06	1.83e-06	0	0	6.553e-05	0	0	0	0.0064	2.943e-05	0.0005	0	0.174	0.22486	T	0.199	0.92824	T	0.829	0.65571	P	0.103	0.52725	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.25	0.59983	T	-0.46	0.15178	N	0.157	0.26717	-0.9982	0.30423	T	0.138	0.45602	T	9	0.090200245	0.15693	T	0.033242	0.54840	D	0.068	0.19811	.	.	0.227260227426	0.22338	0.03294436312036548	0.03242	0.192883983808	0.21620	0.535610854626	0.43826	T	0.022363	0.17252	T	-0.162237	0.26417	T	-0.470819	0.25427	T	0.0968179181218147	0.12003	T	0.551245	0.19007	T	0.05516011	0.10683	0.093609996	0.22118	0.05516011	0.10683	0.093609996	0.22117	-3.457	0.17886	T	.	.	0.134	0.36053	B	.;.;.;.	.;.;.;.	3.011947	0.40284	21.1	0.72548467302871888	0.10012	0.02021	0.06069	N	ALL	0.057102	0.10609	N	-0.743259323350577	0.14818	0.741351	-0.943274313347563	0.11079	0.5622527	0.99999999999854	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	1.6	0.56	0.16465	0.024000	0.13447	0.406000	0.18056	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3522:0.6478:0.0:0.0	5.006	0.13630	912	0.21483	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018837	0.016854	0.030899	0.011029	0.000000	0.054545	0.006623	0.030769	0.02632	839.33	35	chr17	80036685	.	C	G	839.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.865;DP=684;ExcessHet=0;FS=4.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.412;SOR=0.414	GT:AD:DP:GQ:PL	0/1:29,35:64:99:853,0,682	18	0	1	0
chr17	80349770	80349770	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon30:c.A9952G:p.I3318V	.	1	1501	19	1	0	21	0.00694674	0	0	.	727537	RNF213-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	0.010116861468	0.0022	0.00179712	0.0026	0.0008	0.0011	0	0.0009	0.0038	0.0011	0.0019	0.0025808	399	154602	rs147785564	0.0030	0.0030	0.0030	0.0030	0.0092	0.0029	0.0029	0.0072	0.0065	0.0004	0.0014	0.0005	0	0.0010	0.0092	0.0035	0.0023	0.0017	0.0020	0.0020	0.0022	0.0018	0.0035	0.0018	0.0017	0.0031	0.0030	0.0006	0	0.0008	0	0	0.0008	0.0068	0.0035	0.0028	0.0021	0.687	0.04340	T	0.571	0.08777	T	.	.	.	.	.	.	0.009778	0.30209	N	0.351403	0.961237	0.26115	N	.	.	.	2.29	0.17113	T	-0.2	0.10136	N	0.132	0.12770	-1.0087	0.27323	T	0.019	0.07753	T	9	0.0059088767	0.00132	T	0.010117	0.26280	T	0.028	0.06331	.	.	0.388334884743	0.38444	.	.	0.304225670694	0.32734	0.409045338631	0.26325	T	0.009792	0.08886	T	-0.688184	0.00043	T	-0.760764	0.03085	T	0.00152729218825698	0.00015	T	0.732627	0.34815	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18991	B	.;.	.;.	0.587398	0.09560	6.334	0.82687143611899494	0.14322	0.72573	0.35517	D	AEFBI	0.093252	0.18870	N	-0.79815059824682	0.13359	0.6574899	-0.734873216913109	0.16095	0.8497798	0.00545800343659812	0.10944	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.11	-2.27	0.06458	0.203000	0.17113	-0.343000	0.09801	-0.065000	0.16512	0.979000	0.35152	0.001000	0.17328	0.625000	0.32026	0.5504:0.0:0.4496:0.0	12.624	0.55979	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.005051	0.006793	0.017544	0.000000	0.008621	0.006098	0.007576	0.02632	1204.33	33	chr17	80349770	.	A	G	1204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.271;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.613;SOR=0.632	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1218,0,1098	18	0	1	0
chr17	81126506	81126506	C	T	exonic	AATK	.	nonsynonymous SNV	AATK:NM_004920:exon6:c.G367A:p.D123N,AATK:NM_001080395:exon7:c.G676A:p.D226N	.	419	1101	2	0	0	2	0.000907441	.	.	.	3235571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.539	0.357949306167	.	0.000399361	0.0012	0	0	0	0	0	0.0064	0.0022	0.0001876	29	154602	rs533211832	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0017	0.0016	0.0002	2.781e-05	0	0	2.082e-05	0.0014	7.877e-05	0.0003	0.0020	0.0001	0.0001	8.994e-05	0.0002	0.0017	8.163e-05	6.72e-05	0.0008	0.0006	9.623e-05	0	0	0	0	0	0.0034	7.351e-05	0.0005	0.0017	0.014	0.53172	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000074	0.52346	D	0.125140	0.999887	0.50402	D	1.04	0.26193	L	-2.53	0.89430	D	-4.49	0.78046	D	0.583	0.61511	0.603	0.91943	D	0.728	0.90690	D	10	0.065513074	0.08850	T	0.357949	0.92438	D	0.539	0.80723	.	.	0.812813489306	0.81105	0.30556581421117324	0.30469	0.715498813726	0.61956	0.546222448349	0.45323	T	0.417613	0.77021	T	-0.359643	0.04150	T	-0.296163	0.45128	T	0.153325481049975	0.17365	T	0.927907	0.73422	D	0.40855777	0.61320	0.38749728	0.63617	0.40855777	0.61321	0.38749728	0.63617	-10.674	0.77840	D	.	.	0.223	0.47094	B	.;.;.;.	.;.;.;.	5.076647	0.84698	28.4	0.99856024793495934	0.93458	0.98139	0.79933	D	AEFDBI	0.890578	0.82574	D	0.452082672671547	0.64319	4.684003	0.384745294474035	0.60624	4.25206	0.999999999693861	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.07	4.07	0.46726	3.011000	0.49254	5.671000	0.49256	0.545000	0.25583	0.992000	0.37556	1.000000	0.68203	0.299000	0.24476	0.0:1.0:0.0:0.0	16.052	0.80573	.	.	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1055.33	36	chr17	81126506	.	C	T	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.35;DP=715;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.864;SOR=0.8	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1069,0,1195	18	0	1	0
chr17	81940937	81940937	G	A	exonic	MYADML2	.	nonsynonymous SNV	MYADML2:NM_001145113:exon3:c.C805T:p.R269W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00537417278068	.	.	0.0004	0.0005	0	0	0	0	0	0.0008	4.53e-05	7	154602	rs767320390	5.938e-05	5.678e-05	3.246e-05	8.704e-05	0.0008	4.89e-05	4.498e-05	0.0006	0.0006	3.166e-05	0	3.972e-05	0	0	0	1.02e-05	0.0001	0.0008	4.596e-05	4.593e-05	6.425e-05	2.686e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	2.406e-05	0	0	0.0003	0	0	0	1.47e-05	0	0.0008	0.158	0.23905	T	0.07	0.43721	T	0.001	0.07471	B	0.003	0.08700	B	0.119845	0.19058	N	0.556339	1	0.08975	N	1.3	0.32576	L	1.75	0.26152	T	-1.68	0.40082	N	0.135	0.13198	-1.0623	0.11190	T	0.026	0.11264	T	10	0.032511383	0.01404	T	0.005374	0.13771	T	0.010	0.01040	0.504	0.59770	0.0297737177859	0.01360	0.5005716494116064	0.49978	.	.	0.226461648941	0.01716	T	0.005129	0.04570	T	-0.563916	0.00240	T	-0.633244	0.10170	T	0.00843846835652675	0.00102	T	0.886311	0.61284	D	0.05052898	0.09141	0.0415133	0.04735	0.05052898	0.09141	0.0415133	0.04735	-7.116	0.54875	T	.	.	0.091	0.13080	B	.	.	0.961608	0.13381	9.887	0.70332338120075033	0.09261	0.08408	0.14341	N	AEFDBI	0.281511	0.39507	N	-1.4829487650627	0.01970	0.08651117	-1.52273953641506	0.02170	0.09938864	0.0397791483931203	0.14409	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.68	-2.89	0.05326	0.187000	0.16806	0.260000	0.16533	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1481:0.0825:0.3341:0.4353	3.451	0.07066	.	.	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	.	.	.	.	.	.	.	.	0.02632	2487.33	64	chr17	81940937	.	G	A	2487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.41;DP=1318;ExcessHet=0;FS=4.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=2.13;SOR=0.94	GT:AD:DP:GQ:PL	0/1:129,102:231:99:2501,0,3127	18	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2188	1224.92	33	chr17	82253179	.	G	C	1224.92	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-4.011;DP=3300;ExcessHet=2.9153;FS=178.806;InbreedingCoeff=-0.3232;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.682;SOR=12.631	GT:AD:DP:GQ:PL	0/1:150,47:197:81:81,0,2305	9	0	7	3
chr18	47629	47629	T	C	exonic	TUBB8B	.	nonsynonymous SNV	TUBB8B:NM_001358689:exon4:c.A1096G:p.T366A	.	7	1464	51	0	0	51	0.0171198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.00757161598229	.	.	4.137e-05	0	0	0	0	4.512e-05	0	0.0001	6.5e-06	1	154602	rs756381274	8.028e-05	0.0009	8.191e-05	7.863e-05	0.0030	6.821e-05	6.374e-05	0.0018	0.0015	0	0.0002	0.0006	0	0	0.0030	5.407e-05	0.0001	0.0001	0.0003	0.0012	0.0003	0.0004	0.0011	0.0003	0.0002	0.0007	0.0006	4.812e-05	0	0.0011	0.0015	0	0	0.0071	0.0003	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000013	0.62929	U	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2684	0.75855	T	0.418	0.76408	T	6	0.481885	0.60480	T	0.007572	0.20086	T	0.307	0.62838	.	.	0.567785321435	0.56442	0.10045747927328488	0.09976	.	.	.	.	.	.	.	.	0.0405592	0.57119	T	-0.179516	0.56567	T	0.963563323020935	0.66696	D	0.950605	0.81072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18289	B	.	.	1.850681	0.23511	16.05	0.74197962344990864	0.10606	0.55312	0.29832	D	AEFBI	0.199548	0.32633	N	-0.404322400526269	0.25317	1.37344	-0.603088665467855	0.19413	1.041451	1.0494678536686E-4	0.05123	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	5.671000	0.67765	4.957000	0.46318	0.345000	0.19837	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	351.33	73	chr18	47629	.	T	C	351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.691;DP=1567;ExcessHet=0;FS=17.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.89;MQRankSum=-8.013;QD=2.56;ReadPosRankSum=1.32;SOR=2.258	GT:AD:DP:GQ:PL	0/1:110,27:137:99:365,0,4116	18	0	1	0
chr18	6965342	6965342	G	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon50:c.C7141T:p.R2381C	Poretti-Boltshauser syndrome, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	704663	not_provided|LAMA1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.479	0.0417537146561	0.0012	0.00279553	0.0024	0.0004	0.0009	0	0	0.0023	0.0044	0.0075	0.0024838	384	154602	rs142063208	0.0028	0.0028	0.0026	0.0030	0.0082	0.0027	0.0027	0.0077	0.0075	0.0005	0.0010	7.652e-05	5.038e-05	0.0004	0.0033	0.0028	0.0023	0.0082	0.0017	0.0017	0.0017	0.0016	0.0070	0.0015	0.0015	0.0052	0.0045	0.0006	0	0.0020	0	0.0002	0.0005	0	0.0023	0.0024	0.0070	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.958	0.70027	D	0.000251	0.46924	D	0.144445	0.999987	0.54805	D	3.235	0.89610	M	-1.08	0.77078	T	-5.51	0.85921	D	0.734	0.73465	0.264	0.86976	D	0.603	0.85894	D	10	0.016408682	0.00346	T	0.041754	0.60099	D	0.479	0.77012	.	.	0.895094079211	0.89405	0.5673563880096925	0.56663	0.61600168912	0.56077	0.489292055368	0.37339	T	0.531587	0.83800	D	-0.115198	0.33911	T	0.067018	0.74711	D	0.128730265391643	0.15264	T	0.854814	0.54193	D	0.34251603	0.56479	0.45183823	0.68109	0.28303096	0.51337	0.4219648	0.66113	-11.508	0.82372	D	0.7391288558217808	0.82112	0.306	0.53495	B	.	.	5.264119	0.88388	29.6	0.99940578074191	0.99767	0.94786	0.62325	D	AEFBI	0.765320	0.70184	D	0.859237228385765	0.89628	10.05011	0.83897627390301	0.92355	11.37934	0.999998149110575	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	4.366000	0.59265	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	20.879	0.99870	865	0.32612	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.007576	0.05263	3045.83	33	chr18	6965342	.	G	A	3045.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.01;DP=897;ExcessHet=0.119;FS=1.949;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.317;SOR=0.814	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1705,0,1753	17	0	2	0
chr18	8825273	8825273	C	T	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378207:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378206:exon14:c.C4843T:p.R1615C,MTCL1:NM_015210:exon15:c.C3763T:p.R1255C	.	426	1064	30	2	0	34	0.0157262	.	.	.	727831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0018	0.00319489	0.0025	0.0026	0.0015	0	0	0.0013	0.0064	0.0148	0.0024385	377	154602	rs115783507	0.0017	0.0018	0.0013	0.0021	0.0150	0.0016	0.0016	0.0142	0.0140	0.0024	0.0013	0.0066	0	0.0002	0.0093	0.0007	0.0026	0.0150	0.0019	0.0019	0.0017	0.0021	0.0139	0.0017	0.0016	0.0112	0.0102	0.0026	0	0.0014	0.0032	0	0	0.0034	0.0010	0.0033	0.0139	0.231	0.18246	T	0.058	0.48336	T	0.04	0.21238	B	0.006	0.12133	B	0.808809	0.09266	N	0.896444	1	0.08975	N	1.12	0.28775	L	2.46	0.32238	T	-2.34	0.51811	N	0.121	0.17828	-0.9916	0.32193	T	0.058	0.24279	T	10	0.006587088	0.00149	T	.	.	.	0.058	0.16647	.	.	0.433269665224	0.42948	0.12311606395852297	0.12237	0.132553004888	0.14941	0.273410499096	0.06589	T	0.065638	0.32740	T	-0.542483	0.00324	T	-0.54034	0.18263	T	0.0187244205625075	0.00585	T	0.783822	0.42110	T	0.0751708	0.16919	0.030532356	0.01521	0.0751708	0.16918	0.030532356	0.01521	-5.308	0.40022	T	.	.	0.084	0.09723	B	.;.;.;.;.	.;.;.;.;.	1.482506	0.19084	14.08	0.6408629089340887	0.07398	0.72841	0.35641	D	AEFDBCI	0.292055	0.40303	N	-0.607389848959107	0.18722	0.9742389	-0.630697175372214	0.18706	1.000479	0.999981598357496	0.51787	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.04	-0.226	0.12460	2.502000	0.45058	-0.736000	0.07640	0.599000	0.40250	0.995000	0.38783	0.000000	0.08366	0.028000	0.12845	0.1211:0.5581:0.1173:0.2035	3.262	0.06447	846	0.36215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.000000	0.005848	0.050000	0.008621	0.009146	0.011364	0.05263	3888.83	150	chr18	8825273	.	C	T	3888.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.08;DP=1418;ExcessHet=0.119;FS=7.264;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.068;SOR=0.504	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1622,0,1764	17	0	2	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:3,324:327:99:.:.:14210,953,0:.	6	3	10	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	374.99	54	chr18	12814235	.	C	T	374.99	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-1.272;DP=672;ExcessHet=1.3;FS=210.157;InbreedingCoeff=-0.2243;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=1.3;SOR=9.066	GT:AD:DP:GQ:PL	0/1:24,16:40:87:87,0,354	13	0	5	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	5491.12	187	chr18	14513679	.	T	G	5491.12	.	AC=10;AF=0.294;AN=34;BaseQRankSum=3.02;DP=4174;ExcessHet=6.9875;FS=11.886;InbreedingCoeff=-0.4081;MLEAC=11;MLEAF=0.324;MQ=50.93;MQRankSum=-9.351;QD=2.03;ReadPosRankSum=-3.085;SOR=1.891	GT:AD:DP:GQ:PL	0/1:237,29:266:99:107,0,6568	7	0	10	2
chr18	14797824	14797824	G	T	exonic	ANKRD30B	.	stopgain	ANKRD30B:NM_001367607:exon20:c.G1999T:p.E667X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0010	0	0	0	0	0	0	0.0029	0.0002458	38	154602	rs567238605	0.0001	0.0002	7.055e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	3.171e-05	0	0	0	0	0.0004	7.413e-06	0.0002	0.0024	0.0001	0.0001	3.858e-05	0.0002	0.0033	7.093e-05	5.749e-05	0.0021	0.0017	0	0	0	0	0	0	0	1.471e-05	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0218081	0.48594	T	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.491387	0.95297	34	0.98717548708398339	0.45157	0.02352	0.06711	N	AEFBI	0.019688	0.00707	N	0.055991399294735	0.44418	2.716291	-0.397091459317517	0.25084	1.377352	1.55475961991268E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.736	0.736	0.17456	2.079000	0.41201	.	.	-1.195000	0.01369	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	953.33	35	chr18	14797824	.	G	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.396;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.22;MQRankSum=-0.15;QD=13.43;ReadPosRankSum=-0.42;SOR=0.627	GT:AD:DP:GQ:PL	0/1:34,37:71:99:967,0,1040	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:27,30:60:99:341,0,376	2	0	16	1
chr18	33745925	33745925	C	G	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.C6077G:p.P2026R	Bainbridge-Ropers syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0723847958169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.408e-06	1.368e-06	1.394e-06	1.422e-06	3.043e-05	2.3e-07	9e-08	.	.	3.043e-05	0	0	0	0	0	9.152e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.206	0.27056	T	0.02	0.18235	B	0.008	0.13708	B	.	.	.	.	0.783268	0.29309	N	0.55	0.14455	N	2.06	0.20523	T	-0.32	0.12283	N	0.326	0.36674	-1.0362	0.18481	T	0.033	0.14247	T	9	0.1398615	0.26589	T	0.072385	0.71517	D	0.069	0.20116	0.282	0.23801	0.0675242888579	0.06100	0.32253294052100173	0.32166	0.538583285751	0.51112	0.784323096275	0.79581	T	0.013178	0.11445	T	-0.205281	0.20049	T	-0.532649	0.19023	T	0.183662279087052	0.19463	T	0.491951	0.15143	T	0.031344786	0.02959	0.060401343	0.11497	0.031344786	0.02958	0.060401343	0.11497	-9.405	0.70266	D	.	.	0.267	0.50129	B	.	.	3.360203	0.46386	22.3	0.89558497364426415	0.18900	0.89112	0.49384	D	AEFBI	0.323439	0.42563	N	-0.675851863641212	0.16711	0.853804	-0.535022064592701	0.21204	1.146003	0.991895004713699	0.32646	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.99	4.11	0.47350	2.508000	0.45111	3.491000	0.38715	0.597000	0.34315	0.929000	0.32243	0.989000	0.31174	0.530000	0.29707	0.0:0.8162:0.1838:0.0	11.352	0.48835	531	0.73574	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1963.33	42	chr18	33745925	.	C	G	1963.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=834;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.07;ReadPosRankSum=1.23;SOR=0.641	GT:AD:DP:GQ:PL	0/1:34,81:115:99:1977,0,677	18	0	1	0
chr18	46563106	46563106	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001384474:exon18:c.C2557T:p.R853C,LOXHD1:NM_144612:exon18:c.C2557T:p.R853C	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	983057	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.337	0.0345743898706	.	.	4.517e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs202178613	3.3e-05	3.352e-05	3.533e-05	3.06e-05	4.096e-05	2.53e-05	2.263e-05	3.104e-05	2.765e-05	0	0	0	0	0	0	4.096e-05	1.733e-05	1.264e-05	3.286e-05	3.94e-05	5.139e-05	1.346e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.819	0.59018	P	0.009741	0.30227	N	0.352795	0.995037	0.48635	D	.	.	.	-0.11	0.64445	T	-5.66	0.87063	D	0.66	0.66959	-0.2350	0.76756	T	0.390	0.74416	T	10	0.7645167	0.76599	D	0.034574	0.55770	D	0.468	0.76289	0.623	0.75803	0.404453528171	0.40057	0.6691201325280289	0.66850	.	.	0.639614999294	0.58509	T	.	.	.	0.157277	0.69947	D	0.183112	0.82175	D	0.415162367835007	0.29510	T	0.937906	0.76702	D	0.10858394	0.25673	0.11553029	0.27888	0.10858394	0.25673	0.11553029	0.27888	-5.229	0.39235	T	.	.	0.286	0.62097	B	.;.;.	.;.;.	4.969879	0.82239	27.7	0.98978046416332022	0.49680	0.96349	0.68705	D	AEFDBI	0.877734	0.80256	D	0.662504266303227	0.77178	6.625372	0.629067917905093	0.77061	6.607285	0.998819692468442	0.37733	0.615755	0.39536	0	0.59043	0.45803	0	0.618376	0.41669	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	5.537000	0.66897	9.733000	0.81406	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.7697:0.2303	11.443	0.49351	828	0.39726	PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1181.33	34	chr18	46563106	.	G	A	1181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.21;DP=708;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-0.326;SOR=0.736	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1195,0,848	18	0	1	0
chr18	49093274	49093274	C	T	exonic	DYM	.	nonsynonymous SNV	DYM:NM_001374433:exon17:c.G1898A:p.C633Y,DYM:NM_001374430:exon18:c.G2063A:p.C688Y	Dyggve-Melchior-Clausen disease, Autosomal recessive;Smith-McCort dysplasia, Autosomal recessive	572	943	7	0	0	7	0.00369783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	.	.	.	.	.	.	.	.	0.0010758	28	26028	rs540724834	0	0.0001	0	0	.	0	0	.	.	0	.	.	.	0	.	0	.	.	0.0006	0.0006	0.0004	0.0008	0.0143	0.0005	0.0005	0.0116	0.0106	4.813e-05	0	0.0001	0	0	0	0.0102	0.0002	0.0009	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2419.33	33	chr18	49093274	.	C	T	2419.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.919;DP=816;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.631;SOR=0.647	GT:AD:DP:GQ:PL	0/1:94,98:192:99:2433,0,2406	18	0	1	0
chr18	63901857	63901857	G	C	exonic	SERPINB2	.	nonsynonymous SNV	SERPINB2:NM_002575:exon6:c.G653C:p.G218A,SERPINB2:NM_001143818:exon7:c.G653C:p.G218A	.	429	1076	16	1	0	18	0.00829493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0245256404261	0.0008	0.00139776	0.0028	0	0.0011	0	0.0092	0.0019	0.0066	0.0079	0.0024773	383	154602	rs143202684	0.0021	0.0021	0.0019	0.0023	0.0091	0.0020	0.0020	0.0086	0.0084	0.0001	0.0011	0.0007	0	0.0101	0.0031	0.0013	0.0023	0.0091	0.0015	0.0015	0.0013	0.0018	0.0066	0.0014	0.0013	0.0048	0.0042	0.0001	0	0.0004	0	0	0.0058	0	0.0018	0.0019	0.0066	0.735	0.03753	T	0.757	0.04686	T	0.625	0.40054	P	0.192	0.36449	B	0.252301	0.15484	N	0.692288	1	0.08975	N	0.82	0.20857	L	-1.77	0.83660	D	0.31	0.04022	N	0.199	0.21969	-1.0393	0.17526	T	0.063	0.26065	T	10	0.00469923	0.00099	T	0.024526	0.47518	T	0.178	0.44724	.	.	0.602933245068	0.59976	0.39490029123809944	0.39405	0.0191806811106	0.01871	0.218389570713	0.01219	T	0.093297	0.39182	T	-0.40671	0.02091	T	-0.352001	0.38975	T	0.0242855817190169	0.01181	T	0.462454	0.13421	T	0.11582219	0.27325	0.07873353	0.17663	0.11582219	0.27325	0.07873353	0.17662	-3.062	0.10865	T	.	.	0.100	0.17232	B	.;.	.;.	0.966350	0.13432	9.939	0.99051564288776506	0.51275	0.14062	0.18201	N	AEFDGBHCI	0.177202	0.30444	N	-0.244210843944827	0.31335	1.75599	-0.243318093629866	0.30001	1.685547	0.998477713112349	0.37033	0.638212	0.43195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.79	4.01	0.45821	0.367000	0.20116	2.619000	0.33623	0.676000	0.76740	0.000000	0.06391	0.074000	0.22270	0.994000	0.71098	0.2955:0.1699:0.5346:0.0	4.070	0.09353	957	0.09725	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	464.33	33	chr18	63901857	.	G	C	464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.394;DP=689;ExcessHet=0;FS=2.182;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.432;SOR=0.407	GT:AD:DP:GQ:PL	0/1:43,24:67:99:478,0,1107	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,26:92:99:.:.:196,0,1332:.	1	0	18	0
chr19	501720	501720	C	T	exonic	MADCAM1	.	nonsynonymous SNV	MADCAM1:NM_130760:exon4:c.C719T:p.S240F	.	721	799	1	1	0	3	0.00187383	.	.	.	3281259	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.015277613376	7.7e-05	.	3.506e-05	0	0	0	0	6.372e-05	0	0	6.5e-06	1	154602	rs372191773	9.463e-05	9.281e-05	0.0001	8.254e-05	0.0013	8.146e-05	7.604e-05	0.0006	0.0004	0	0.0001	0	0	0	0.0013	0.0001	0.0001	2.478e-05	3.317e-05	3.965e-05	3.892e-05	2.715e-05	7.4e-05	1.27e-05	8.05e-06	2.861e-05	1.869e-05	0	0	0	0	0	0	0	7.4e-05	0	0	0.023	0.48186	D	0.044	0.56192	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.77	0.11407	T	-1.83	0.42957	N	0.184	0.19995	-0.9636	0.38488	T	0.013	0.05033	T	9	0.06210804	0.07889	T	0.015278	0.35920	T	0.024	0.04979	.	.	0.0846915920261	0.08053	0.18575901246039003	0.18493	0.239339673074	0.26486	0.220121979713	0.01317	T	0.056662	0.42501	T	-0.407875	0.02054	T	-0.647814	0.09107	T	0.0225021525073522	0.00965	T	0.784922	0.42251	T	0.074157916	0.16623	0.05983626	0.11297	0.074157916	0.16623	0.05983626	0.11297	-8.593	0.65043	D	.	.	0.148	0.32661	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.958292	0.13348	9.851	0.97325677400832267	0.33399	0.00524	0.02436	N	AEFDBI	0.047926	0.08123	N	-1.14864137922619	0.05802	0.2654632	-1.20289843698664	0.05863	0.2805821	0.903671850357152	0.26159	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.55	-1.31	0.08749	-0.370000	0.07578	0.155000	0.15338	0.563000	0.28513	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1761:0.4946:0.0:0.3293	3.724	0.07995	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	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	725.33	26	chr19	501720	.	C	T	725.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=889;ExcessHet=0;FS=1.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=1.51;QD=13.95;ReadPosRankSum=0.482;SOR=1.004	GT:AD:DP:GQ:PL	0/1:25,27:52:99:739,0,963	18	0	1	0
chr19	805158	805158	C	T	exonic	PTBP1	.	nonsynonymous SNV	PTBP1:NM_002819:exon8:c.C863T:p.S288L,PTBP1:NM_031990:exon8:c.C863T:p.S288L,PTBP1:NM_031991:exon8:c.C863T:p.S288L	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0162002006798	0.0008	0.000798722	0.0007	9.667e-05	8.651e-05	0	0	0.0009	0.0011	0.0016	0.0006986	108	154602	rs147259741	0.0007	0.0007	0.0007	0.0008	0.0017	0.0007	0.0007	0.0013	0.0013	2.988e-05	0.0002	0.0017	0	0	0.0017	0.0007	0.0008	0.0016	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0007	0.0006	0.0001	0	0.0004	0.0026	0	0	0.0068	0.0009	0.0005	0.0010	0.183	0.36509	T	0.158	0.50514	T	0.003	0.13644	B	0.005	0.15521	B	0.000118	0.50451	N	0.179778	0.999998	0.58761	D	1.68	0.43186	L	0.82	0.48460	T	-2.57	0.59059	D	0.602	0.62018	-0.9381	0.42916	T	0.138	0.45508	T	10	0.025969326	0.00775	T	0.016	0.37339	T	0.187	0.46274	.	.	0.515658035153	0.51206	0.6482898041491741	0.64764	0.414700075407	0.42141	0.681794524193	0.64527	T	0.361508	0.72758	T	-0.38139	0.03054	T	-0.350696	0.39124	T	0.0416450848248553	0.03989	T	0.872413	0.58193	D	0.24728735	0.47706	0.1427836	0.33957	0.24728735	0.47706	0.1427836	0.33956	-11.146	0.80452	D	.	.	0.116	0.38172	B	.;.;.;.;.	.;.;.;.;.	4.580510	0.72362	25.8	0.97872978071970185	0.36546	0.93750	0.59084	D	AEFDBHCI	0.797838	0.72456	D	-0.478083326538137	0.22801	1.220004	-0.447878210826013	0.23609	1.288393	0.999997391400517	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.49	3.43	0.38372	5.965000	0.70100	5.983000	0.52202	-0.177000	0.10537	0.954000	0.33273	1.000000	0.68203	0.948000	0.49324	0.1653:0.8347:0.0:0.0	12.784	0.56872	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1014.33	38	chr19	805158	.	C	T	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.46;DP=831;ExcessHet=0;FS=0.958;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.508;SOR=0.917	GT:AD:DP:GQ:PL	0/1:44,36:80:99:1028,0,1028	18	0	1	0
chr19	984371	984371	G	T	exonic	WDR18	.	nonsynonymous SNV	WDR18:NM_024100:exon1:c.G18T:p.E6D,WDR18:NM_001372085:exon3:c.G18T:p.E6D	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.445973322495	.	0.000798722	0.0004	0	0	0	0	1.952e-05	0	0.0029	0.0003105	48	154602	rs531751106	0.0002	0.0002	8.133e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	9.049e-07	0.0002	0.0025	0.0001	0.0001	6.424e-05	0.0001	0.0033	6.505e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999734	0.48635	D	2.415	0.69758	M	-0.73	0.73100	T	.	.	.	0.464	0.50056	-0.2115	0.77375	T	0.484	0.80311	T	10	0.010939896	0.00241	T	0.445973	0.94253	D	.	.	0.255	0.19533	0.508465569856	0.50487	0.7136511410830638	0.71308	.	.	0.838607549667	0.87883	D	0.211908	0.57281	T	-0.291934	0.09443	T	-0.197357	0.54896	T	0.255399286746979	0.23113	T	0.840916	0.51656	T	0.7016232	0.78145	0.67028964	0.80655	0.7016232	0.78147	0.67028964	0.80656	-8.208	0.62479	D	.	.	0.947	0.86575	P	.;.	.;.	3.363388	0.46445	22.3	0.99655544063519275	0.77568	0.19532	0.20697	N	ALL	0.223968	0.34826	N	0.226290721159827	0.52477	3.421536	0.0725466095897727	0.43173	2.624636	0.999999999999992	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.3	-1.9	0.07248	0.092000	0.14905	0.410000	0.18100	0.662000	0.56354	0.981000	0.35396	0.976000	0.30059	0.998000	0.85391	0.5306:0.0:0.4694:0.0	8.657	0.33233	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	.	.	.	.	.	.	.	.	0.02632	1028.33	33	chr19	984371	.	G	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.149;DP=774;ExcessHet=0;FS=3.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=2.67;SOR=1.107	GT:AD:DP:GQ:PL	0/1:25,40:65:99:1042,0,649	18	0	1	0
chr19	1468541	1468541	G	A	exonic	APC2	.	nonsynonymous SNV	APC2:NM_001351273:exon14:c.G5237A:p.S1746N,APC2:NM_005883:exon15:c.G5240A:p.S1747N	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.521187253161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.911e-07	4.104e-06	0	1.394e-06	1.169e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.189	0.28575	T	0.003	0.11197	B	0.001	0.04355	B	0.010859	0.01288	N	2.607580	1	0.08975	N	.	.	.	-3.04	0.92357	D	-0.54	0.16598	N	0.033	0.00882	-0.4576	0.70148	T	0.533	0.82699	D	10	0.110044	0.20554	T	0.521187	0.95448	D	0.102	0.29158	0.188	0.09776	0.407756890619	0.40387	0.12546774351382212	0.12472	0.51541283519	0.49451	0.490313112736	0.37482	T	0.218441	0.58117	T	-0.1469	0.28798	T	-0.448788	0.27830	T	0.280924290418625	0.24210	T	0.367163	0.08573	T	0.0787204	0.17943	0.056334924	0.10045	0.0787204	0.17942	0.056334924	0.10045	-5.711	0.43791	T	.	.	0.101	0.20819	B	.;.	.;.	0.229324	0.06106	2.552	0.91454595736564281	0.20724	0.07901	0.13890	N	AEFDGBCI	0.070057	0.13892	N	-1.23368600135301	0.04519	0.2041296	-1.30287243923495	0.04393	0.2071063	0.999926795541351	0.46280	0.65757	0.49021	0	0.596491	0.49125	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	3.63	-1.65	0.07849	0.024000	0.13447	3.947000	0.40646	-0.964000	0.01968	0.000000	0.06391	0.722000	0.26360	0.011000	0.09372	0.205:0.2843:0.3667:0.1441	1.730	0.02754	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	.	.	.	.	.	.	.	.	0.02632	1033.33	39	chr19	1468541	.	G	A	1033.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=753;ExcessHet=0;FS=0.753;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-2.02;SOR=0.836	GT:AD:DP:GQ:PL	0/1:58,43:101:99:1047,0,1516	18	0	1	0
chr19	2111309	2111311	GAG	-	exonic	AP3D1	.	nonframeshift deletion	AP3D1:NM_003938:exon24:c.2773_2775del:p.L925del,AP3D1:NM_001261826:exon26:c.2959_2961del:p.L987del,AP3D1:NM_001374799:exon26:c.2923_2925del:p.L975del	.	.	.	.	.	.	.	.	.	.	.	1438378	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	1.675e-05	0	0	0	0	3.039e-05	0	0	1.29e-05	2	154602	rs776535072	8.21e-06	8.209e-06	6.807e-06	9.627e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	986.29	34	chr19	2111308	.	CGAG	C	986.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.268;DP=690;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.93;ReadPosRankSum=-1.519;SOR=0.793	GT:AD:DP:GQ:PL	0/1:29,26:55:99:1000,0,1139	18	0	1	0
chr19	2230315	2230315	C	T	exonic	PLEKHJ1	.	nonsynonymous SNV	PLEKHJ1:NM_001300836:exon6:c.G682A:p.E228K	.	453	1065	4	0	0	4	0.00187441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00187246539809	.	0.00119808	0	0	.	0	.	0	0	.	0.000207	32	154602	rs185888752	0.0013	0.0008	0.0013	0.0013	0.0044	0.0012	0.0011	0.0019	0.0014	0.0006	0.0019	0.0003	0	0.0006	0.0044	0.0016	0.0016	0	0.0011	0.0011	0.0012	0.0010	0.0019	0.0010	0.0010	0.0014	0.0012	0.0008	0	0.0019	0.0003	0	0.0002	0.0068	0.0015	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	0.109	0.09490	.	.	.	.	.	.	.	0.00703004	0.00160	T	0.001872	0.03272	T	.	.	.	.	0.441118900842	0.43733	0.16008240917527672	0.15929	.	.	.	.	.	.	.	.	-0.777963	0.00011	T	-0.89457	0.00542	T	.	.	.	0.457454	0.13149	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.29311	B	.	.	-0.240209	0.02892	0.414	0.89797236872982966	0.19109	0.01661	0.05324	N	AEFDBCI	0.019475	0.00679	N	.	.	.	.	.	.	0.728823470255586	0.23019	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	1.77	-3.13	0.04944	-1.844000	0.01772	-0.272000	0.10340	-1.072000	0.01590	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.3332:0.0:0.6668	6.274	0.20178	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1325.33	36	chr19	2230315	.	C	T	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=756;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.949;SOR=0.522	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1339,0,1703	18	0	1	0
chr19	2810340	2810340	C	T	exonic	THOP1	.	nonsynonymous SNV	THOP1:NM_003249:exon10:c.C1492T:p.R498W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0474252750426	.	.	3.498e-05	0	0	0	0	6.32e-05	0	0	3.23e-05	5	154602	rs777006143	6.235e-05	6.362e-05	6.681e-05	5.785e-05	0.0002	5.169e-05	4.788e-05	5.798e-05	5.367e-05	0	2.238e-05	7.66e-05	0	5.742e-05	0.0002	7.106e-05	8.294e-05	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.003	0.68238	D	0.062	0.83351	T	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.19	0.30124	L	2.84	0.10674	T	-5.02	0.82511	D	0.838	0.83371	-0.9675	0.37713	T	0.033	0.14029	T	10	0.65466034	0.69803	D	0.047425	0.62915	D	0.290	0.60924	.	.	0.354396617058	0.35051	0.825937333034814	0.82551	0.902985264539	0.70709	0.883316099644	0.94403	D	0.252119	0.62246	T	-0.0989002	0.36606	T	-0.220363	0.52702	T	0.907411932945251	0.56170	D	0.972903	0.93912	D	0.658711	0.75830	0.46502355	0.68952	0.658711	0.75831	0.46502355	0.68952	-9.203	0.70921	D	.	.	0.569	0.67589	P	.;.;.;.;.	.;.;.;.;.	5.133828	0.85920	28.7	0.99825439098458324	0.90764	0.71634	0.35098	D	AEFBHCI	0.678955	0.64315	D	-0.163507965936957	0.34660	1.981143	-0.25533610301189	0.29587	1.658877	0.65483956355196	0.22205	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.4	-0.62	0.10987	0.779000	0.26407	3.239000	0.36954	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.4866:0.4183:0.0:0.095	6.694	0.22378	994	0.00715	Peptidase M3A/M3B catalytic domain;Peptidase M3A/M3B catalytic domain;Peptidase M3A/M3B catalytic domain;.;Peptidase M3A/M3B catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	769.33	40	chr19	2810340	.	C	T	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=754;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.986;SOR=0.559	GT:AD:DP:GQ:PL	0/1:47,31:78:99:783,0,1134	18	0	1	0
chr19	2917544	2917544	A	G	exonic	ZNF57	.	nonsynonymous SNV	ZNF57:NM_001319083:exon4:c.A827G:p.Y276C,ZNF57:NM_173480:exon4:c.A923G:p.Y308C	.	408	1093	21	0	0	21	0.00951518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00274810396374	0.0018	0.000599042	0.0025	9.615e-05	0.0029	0.0001	0.0014	0.0031	0.0066	0.0024	0.0022251	344	154602	rs138288250	0.0020	0.0020	0.0020	0.0021	0.0132	0.0019	0.0019	0.0108	0.0099	0.0003	0.0024	0.0014	2.519e-05	0.0010	0.0132	0.0021	0.0022	0.0025	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0017	0.0023	0.0022	0.0003	0.0077	0.0028	0.0009	0.0002	0.0018	0.0068	0.0027	0.0033	0.0031	0.001	0.78490	D	0.014	0.63918	D	0.981	0.59675	D	0.514	0.48013	P	.	.	.	.	0.999999	0.08975	N	2.82	0.82106	M	1.8	0.25344	T	-7.92	0.96243	D	0.268	0.30347	-1.0134	0.25848	T	0.078	0.31163	T	9	0.008194387	0.00186	T	0.002748	0.05694	T	0.033	0.08068	.	.	0.384086055536	0.38021	0.03817991762883278	0.03763	0.0331800006397	0.03465	0.297541618347	0.10035	T	0.080808	0.48169	T	-0.499229	0.00577	T	-0.49199	0.23182	T	0.0807619185844534	0.10085	T	0.119088	0.00917	T	0.37498558	0.58951	0.26632977	0.52477	0.37498558	0.58952	0.26632977	0.52476	-7.529	0.57815	D	.	.	0.362	0.58493	A	.;.;.	.;.;.	1.253334	0.16501	12.58	0.59857462628354041	0.06324	0.01932	0.05890	N	AEFGBHCI	.	.	.	-0.584519847722468	0.19414	1.015892	-0.86875643491662	0.12837	0.662677	0.00739564205875676	0.11456	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.508809	0.08732	0	.	.	2.25	-0.192	0.12597	1.032000	0.29786	-2.517000	0.03658	-0.149000	0.12139	0.005000	0.17040	0.000000	0.08366	0.008000	0.08271	0.4306:0.0:0.3373:0.2321	2.323	0.03957	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|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	0.016616	0.020202	0.013587	0.029240	0.000000	0.043103	0.012195	0.007576	0.02632	1523.33	104	chr19	2917544	.	A	G	1523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=1882;ExcessHet=0;FS=4.894;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-2.167;SOR=0.37	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1537,0,1288	18	0	1	0
chr19	5831623	5831623	G	T	exonic	FUT6	.	stopgain	FUT6:NM_001040701:exon2:c.C945A:p.Y315X,FUT6:NM_001381957:exon2:c.C945A:p.Y315X,FUT6:NM_000150:exon3:c.C945A:p.Y315X,FUT6:NM_001381955:exon3:c.C945A:p.Y315X,FUT6:NM_001381959:exon3:c.C945A:p.Y315X,FUT6:NM_001369502:exon4:c.C945A:p.Y315X,FUT6:NM_001369504:exon4:c.C945A:p.Y315X,FUT6:NM_001369505:exon4:c.C945A:p.Y315X,FUT6:NM_001381956:exon4:c.C945A:p.Y315X,FUT6:NM_001381958:exon5:c.C945A:p.Y315X	Fucosyltransferase 6 deficiency	2	1482	36	2	0	40	0.0133156	.	.	.	227409	not_provided|Fucosyltransferase_6_deficiency	MedGen:C3661900|MONDO:MONDO:0013462,MedGen:C3151219,OMIM:613852	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0056	0.0289537	0.0177	0.0033	0.0047	0.0690	0.0009	0.0068	0.0191	0.0595	0.0157566	2436	154602	rs145035679	0.0100	0.0100	0.0084	0.0115	0.0561	0.0098	0.0098	0.0548	0.0543	0.0022	0.0054	0.0253	0.0488	0.0011	0.0148	0.0050	0.0178	0.0561	0.0085	0.0085	0.0079	0.0090	0.0620	0.0081	0.0079	0.0565	0.0543	0.0031	0.0055	0.0063	0.0268	0.0620	0.0011	0	0.0052	0.0095	0.0531	.	.	.	.	.	.	.	.	.	.	.	.	0.000060	0.53742	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.712	0.71498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23637	0.77319	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive|Recessive	.;.;.;.;High|High	7.770720	0.96845	36	0.99036869004821815	0.50939	0.95893	0.66609	D	AEFBI	0.105420	0.21064	N	0.295419678082104	0.55916	3.755734	-0.0017376384826292	0.39638	2.35322	0.891894201422631	0.25870	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	3.11	0.34883	2.739000	0.47083	1.247000	0.25145	0.595000	0.32841	0.997000	0.40164	0.999000	0.35428	0.086000	0.17578	0.0:0.0:1.0:0.0	12.435	0.54931	970	0.06235	.;.;.;.;.	.	.	.	.	.	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	0.015625	0.010101	0.020380	0.005848	0.000000	0.025862	0.003067	0.026515	0.07895	7924.79	34	chr19	5831623	.	G	T	7924.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.74;DP=1346;ExcessHet=0.3672;FS=1.108;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=55.19;MQRankSum=0.874;QD=13.3;ReadPosRankSum=0.378;SOR=0.609	GT:AD:DP:GQ:PL	0/1:98,109:207:99:2986,0,2525	16	0	3	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3125	750.05	37	chr19	7871678	.	G	C	750.05	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.804;DP=1749;ExcessHet=6.9875;FS=186.672;InbreedingCoeff=-0.429;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.13;SOR=10.928	GT:AD:DP:GQ:PL	0/1:86,25:111:92:92,0,1902	6	0	10	3
chr19	8510886	8510886	G	A	exonic	ZNF414	.	nonsynonymous SNV	ZNF414:NM_001146175:exon7:c.C1064T:p.P355L	.	422	1086	9	0	5	14	0.00412655	.	.	.	2352139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0363526090141	.	0.000399361	0	0	0	0	.	0	0	0	0.0006147	16	26028	rs576116806	0.0012	0.0011	0.0012	0.0013	0.0025	0.0011	0.0011	0.0012	0.0011	0.0002	0.0011	9.686e-05	0	0.0065	0.0025	0.0011	0.0010	0.0017	0.0017	0.0018	0.0016	0.0019	0.0029	0.0016	0.0015	0.0026	0.0024	0.0001	0	0.0004	0	0	0.0052	0.0035	0.0029	0.0005	0.0015	0.034	0.44029	D	0.005	0.72224	D	.	.	.	.	.	.	0.699057	0.10109	U	0.563667	0.999934	0.19363	N	.	.	.	1.9	0.23486	T	-0.58	0.17417	N	0.079	0.05414	-1.0086	0.27354	T	0.033	0.14029	T	10	0.0041778684	0.00083	T	0.036353	0.56939	D	0.019	0.03383	.	.	0.0716867268079	0.06686	0.1973097981213169	0.19647	0.234460416088	0.25982	0.724260568619	0.70668	T	.	.	.	-0.598319	0.00149	T	-0.631816	0.10278	T	0.012551227477016	0.00208	T	0.440756	0.12177	T	.	.	.	.	.	.	.	.	-5.613	0.42911	T	.	.	0.088	0.11606	B	.	.	0.616379	0.09846	6.611	0.80118686613626455	0.13053	0.07826	0.13820	N	AEFDBI	0.064303	0.12478	N	-1.10168591181285	0.06613	0.304933	-1.10067815232798	0.07688	0.3749296	0.999373969955841	0.39355	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.03	-0.0554	0.13140	-0.081000	0.11285	.	.	-0.270000	0.06752	0.053000	0.21524	0.596000	0.25695	0.125000	0.19370	0.0914:0.1554:0.4341:0.3191	2.941	0.05473	652	0.62785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	119.38	8	chr19	8510886	.	G	A	119.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.312;DP=332;ExcessHet=0;FS=2.632;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=2.13;SOR=0.105	GT:AD:DP:GQ:PL	0/1:6,6:12:99:133,0,204	18	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,81:415:99:0|1:8888826_T_*:2522,0,12058:8888826	2	0	17	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	214.82	36	chr19	8899972	.	T	C	214.82	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.331;DP=1242;ExcessHet=0.119;FS=2.292;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.026;MQ=59.11;MQRankSum=-14.82;QD=0.45;ReadPosRankSum=1.92;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,22:254:99:0|1:8899972_T_C:225,0,9624:8899972	17	0	2	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	282.83	36	chr19	8899974	.	G	A	282.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.188;DP=1463;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.11;MQRankSum=-14.44;QD=0.59;ReadPosRankSum=2.26;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,23:257:99:0|1:8899972_T_C:261,0,9705:8899972	17	0	2	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	249.83	36	chr19	8899979	.	G	T	249.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.88;DP=1577;ExcessHet=0.119;FS=1.019;InbreedingCoeff=-0.0554;MLEAC=2;MLEAF=0.053;MQ=59.15;MQRankSum=-14.44;QD=0.5;ReadPosRankSum=2.11;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:238,23:261:99:0|1:8899972_T_C:249,0,9924:8899972	17	0	2	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.08824	625.48	36	chr19	8900001	.	C	T	625.48	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.6;DP=3191;ExcessHet=0.3672;FS=0.971;InbreedingCoeff=-0.1251;MLEAC=3;MLEAF=0.088;MQ=59.19;MQRankSum=-14.72;QD=0.84;ReadPosRankSum=1.2;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,25:262:99:0|1:8900000_C_T:336,0,9868:8900000	14	0	3	2
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,24:257:99:0|1:8900000_C_T:306,0,9682:8900000	5	0	14	0
chr19	9214159	9214159	C	T	exonic	OR7D4	.	nonsynonymous SNV	OR7D4:NM_001005191:exon1:c.G679A:p.G227R	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000796661839295	0.0012	0.00299521	0.0004	0.0038	0.0006	0	0	1.499e-05	0.0011	0	0.0004786	74	154602	rs74657983	0.0003	0.0005	0.0003	0.0002	0.0048	0.0002	0.0002	0.0042	0.0040	0.0048	0.0004	3.828e-05	2.524e-05	1.874e-05	0.0002	0.0002	0.0006	2.322e-05	0.0012	0.0013	0.0011	0.0013	0.0036	0.0011	0.0010	0.0032	0.0030	0.0036	0	0.0012	0	0	0	0	0.0001	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.030318	0.25327	N	0.322108	1	0.08975	N	-1.8	0.00289	N	9.06	0.00017	T	2.47	0.00242	N	0.068	0.04072	-0.9200	0.45554	T	0.000	0.00039	T	10	0.005191475	0.00113	T	7.97E-4	0.00629	T	0.035	0.08770	0.355	0.35571	0.212008924253	0.20833	0.03316021031454337	0.03264	0.0482655597038	0.05275	0.214341670275	0.01009	T	0.001183	0.00684	T	-0.769659	0.00013	T	-0.879176	0.00661	T	0.0040604594460688	0.00043	T	0.0616938	0.00449	T	0.043618158	0.06828	0.051183805	0.08186	0.043618158	0.06828	0.051183805	0.08185	-1.39	0.01553	T	.	.	0.071	0.04002	B	.;.;.	.;.;.	0.717620	0.10865	7.542	0.099884151547680822	0.00115	0.00032	0.00291	N	AEFGBI	0.014945	0.00260	N	-1.87492046863327	0.00386	0.01661141	-1.76645482727861	0.00873	0.03900625	7.45206701991915E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.84	0.166	0.14287	0.403000	0.20706	.	.	-0.474000	0.05084	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.2959:0.1539:0.5503	4.771	0.12530	976	0.04745	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	0.001511	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	133.33	34	chr19	9214159	.	C	T	133.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.361;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.18;MQRankSum=-11.53;QD=0.93;ReadPosRankSum=0.904;SOR=0.776	GT:AD:DP:GQ:PL	0/1:120,23:143:99:147,0,3430	18	0	1	0
chr19	9757861	9757864	AATT	-	exonic	ZNF846	.	frameshift deletion	ZNF846:NM_001353798:exon5:c.826_829del:p.N276Pfs*8,ZNF846:NM_001077624:exon6:c.1213_1216del:p.N405Pfs*8,ZNF846:NM_001353799:exon6:c.1210_1213del:p.N404Pfs*8	.	381	1134	7	0	0	7	0.00307692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0008	0	0.0002	0	0.0012	0.0011	0.0022	0.0010	0.0006662	103	154602	rs779744151	0.0006	0.0006	0.0005	0.0006	0.0036	0.0006	0.0005	0.0024	0.0021	0.0001	0.0004	0.0001	0	0.0006	0.0036	0.0006	0.0007	0.0011	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0007	0.0006	0	0	0.0004	0	0	0.0003	0	0.0008	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	4124.79	33	chr19	9757860	.	GAATT	G	4124.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.287;DP=825;ExcessHet=0.119;FS=1.125;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=1.66;SOR=0.802	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1978,0,1715	17	0	2	0
chr19	9811204	9811204	G	A	exonic	FBXL12	.	nonsynonymous SNV	FBXL12:NM_001316936:exon2:c.C574T:p.R192C,FBXL12:NM_001316941:exon2:c.C514T:p.R172C,FBXL12:NM_001316937:exon3:c.C514T:p.R172C,FBXL12:NM_001316940:exon3:c.C514T:p.R172C,FBXL12:NM_017703:exon3:c.C673T:p.R225C,FBXL12:NM_001316938:exon4:c.C514T:p.R172C,FBXL12:NM_001316939:exon4:c.C514T:p.R172C,FBXL12:NM_001316942:exon4:c.C514T:p.R172C	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00516531896304	0.0016	0.000798722	0.0016	0.0002	0.0002	0.0002	0.0019	0.0019	0.0023	0.0028	0.0015006	232	154602	rs140944467	0.0018	0.0018	0.0018	0.0018	0.0036	0.0017	0.0017	0.0024	0.0021	0.0002	0.0006	0.0003	7.56e-05	0.0017	0.0036	0.0019	0.0019	0.0025	0.0013	0.0013	0.0014	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0	0.0012	0.0003	0.0002	0.0016	0	0.0020	0.0024	0.0010	0.132	0.26519	T	0.127	0.92824	T	0.998	0.73220	D	0.483	0.47159	P	0.164828	0.17550	N	0.534882	0.99707	0.81001	D	1.195	0.30194	L	1.71	0.26737	T	-1.88	0.43906	N	0.216	0.46928	-1.0657	0.10386	T	0.033	0.14247	T	9	0.013186842	0.00281	T	0.005165	0.13125	T	0.124	0.34239	.	.	0.504297271243	0.50068	0.6043305414029869	0.60364	0.406531539876	0.41531	0.619073629379	0.55598	T	0.255759	0.62658	T	-0.415863	0.01818	T	-0.375683	0.36227	T	0.0192997779396386	0.00636	T	0.880112	0.59716	D	0.12675226	0.29680	0.09963328	0.23795	0.12675226	0.29679	0.09963328	0.23795	-6.616	0.51176	T	.	.	0.115	0.28778	B	.;.;.	.;.;.	4.008641	0.59116	24.1	0.99599110320259587	0.74101	0.79728	0.39564	D	AEFBCI	0.238553	0.36065	N	0.112439307235421	0.47043	2.935572	0.207648175980257	0.50273	3.220945	0.756779485971929	0.23447	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.55	4.55	0.55429	1.307000	0.33121	.	.	0.676000	0.76740	0.943000	0.32764	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.009	0.58126	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.000000	0.000000	0.008621	0.012195	0.000000	0.02632	2094.33	33	chr19	9811204	.	G	A	2094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=774;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.854;SOR=0.765	GT:AD:DP:GQ:PL	0/1:70,76:146:99:2108,0,1800	18	0	1	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E,OLFM2:NM_001304347:exon6:c.C822G:p.D274E,OLFM2:NM_058164:exon6:c.C750G:p.D250E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	309.13	41	chr19	9854801	.	G	C	309.13	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.882;DP=1786;ExcessHet=0.7564;FS=174.643;InbreedingCoeff=-0.138;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.25;SOR=10.646	GT:AD:DP:GQ:PL	0/1:108,31:139:27:27,0,2013	14	0	4	1
chr19	10329009	10329009	G	A	exonic	RAVER1	.	nonsynonymous SNV	RAVER1:NM_001366174:exon3:c.C389T:p.T130M,RAVER1:NM_133452:exon3:c.C389T:p.T130M	.	.	.	.	.	.	.	.	.	.	.	4057716	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.433	0.0584580529094	.	.	3.184e-05	0	0	0	0	5.396e-05	0	0	3.23e-05	5	154602	rs764974110	4.562e-05	5.062e-05	4.995e-05	4.118e-05	0.0002	3.668e-05	3.342e-05	3.967e-05	3.559e-05	0	0	0	0	0	0.0002	5.044e-05	8.52e-05	4.887e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	3.055	0.86842	M	0.9	0.45248	T	-4.97	0.82063	D	0.652	0.67822	-0.3713	0.72922	T	0.298	0.66942	T	10	0.59286106	0.66478	D	0.058458	0.67324	D	0.433	0.73879	0.308	0.27967	0.484031237447	0.48032	0.5718056990765117	0.57108	1.90043783059	0.92813	0.801411032677	0.82178	T	0.272178	0.91394	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97482305765152	0.70671	D	0.974603	0.90967	D	0.57162344	0.71150	0.33901748	0.59672	0.57162344	0.71151	0.33901748	0.59672	-11.083	0.80111	D	.	.	0.627	0.78691	P	.;.;.;.	.;.;.;.	5.664556	0.92895	33	0.99921866884651012	0.98787	0.99075	0.90859	D	AEFDBCI	0.940705	0.94301	D	0.888057783344365	0.91163	10.74597	0.82788564679149	0.91660	11.00148	0.999999851120338	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	9.399000	0.96635	11.745000	0.95278	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.964	0.79740	764	0.49969	RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2092.33	33	chr19	10329009	.	G	A	2092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.775;DP=792;ExcessHet=0;FS=4.059;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.77;SOR=0.409	GT:AD:DP:GQ:PL	0/1:76,76:152:99:2106,0,2077	18	0	1	0
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G,TYK2:NM_001385198:exon24:c.A3338G:p.E1113G,TYK2:NM_001385199:exon24:c.A3302G:p.E1101G,TYK2:NM_001385201:exon24:c.A3290G:p.E1097G,TYK2:NM_001385200:exon25:c.A3485G:p.E1162G,TYK2:NM_001385204:exon25:c.A3698G:p.E1233G,TYK2:NM_001385205:exon25:c.A3398G:p.E1133G,TYK2:NM_001385206:exon25:c.A3362G:p.E1121G,TYK2:NM_001385207:exon25:c.A3470G:p.E1157G,TYK2:NM_003331:exon25:c.A3488G:p.E1163G,TYK2:NM_001385202:exon26:c.A3404G:p.E1135G,TYK2:NM_001385203:exon26:c.A3569G:p.E1190G	Immunodeficiency 35, Autosomal recessive	1	1402	108	11	0	130	0.0443081	.	.	.	468200	not_specified|not_provided|Immunodeficiency_35	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0026	0.00658946	0.0067	0.0008	0.0019	0.0001	0.0017	0.0038	0.0088	0.0311	0.0060025	928	154602	rs55886939	0.0039	0.0039	0.0030	0.0049	0.0306	0.0039	0.0038	0.0296	0.0292	0.0004	0.0016	0.0039	2.519e-05	0.0019	0.0248	0.0022	0.0052	0.0306	0.0032	0.0032	0.0029	0.0036	0.0294	0.0030	0.0029	0.0255	0.0240	0.0005	0	0.0036	0.0043	0.0002	0.0021	0.0272	0.0032	0.0047	0.0294	0.02	0.49613	D	0.213	0.26714	T	0.0	0.02946	B	0.006	0.12133	B	0.540135	0.11545	N	0.744173	0.999403	0.21520	N	0.65	0.16133	N	-1.71	0.83157	D	-1.88	0.43906	N	0.15	0.16028	-1.0092	0.27167	T	0.090	0.34683	T	10	0.0062526166	0.00141	T	.	.	.	0.224	0.52174	.	.	0.832625569796	0.83103	0.2781677214498707	0.27729	0.262748586861	0.28834	0.308513373137	0.11682	T	0.356059	0.72297	T	-0.352291	0.04585	T	-0.255821	0.49241	T	0.020755482438709	0.00775	T	0.19768	0.06085	T	0.27860284	0.50913	0.22806673	0.47836	0.33965775	0.56252	0.24295966	0.49728	-4.006	0.23893	T	.	.	0.081	0.08320	B	.;.;.	.;.;.	2.704222	0.35333	19.87	0.99295829267216951	0.58433	0.92413	0.55654	D	AEFBHI	0.307691	0.41449	N	0.0419748116485306	0.43773	2.663794	0.128050775842209	0.45991	2.852466	0.0473693968275403	0.14727	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	1.646000	0.36865	4.984000	0.46482	0.588000	0.31329	0.974000	0.34632	1.000000	0.68203	0.388000	0.26514	0.0:0.0:0.0:1.0	13.877	0.63158	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	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	0.020645	0.005051	0.012228	0.023392	0.000000	0.025862	0.045732	0.026515	0.1316	11463.4	35	chr19	10350910	.	T	C	11463.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.968;DP=1439;ExcessHet=1.3;FS=0;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.093;SOR=0.677	GT:AD:DP:GQ:PL	0/1:114,88:202:99:2356,0,3166	14	0	5	0
chr19	10467443	10467443	C	T	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_006202:exon10:c.C1766T:p.S589F,PDE4A:NM_001111307:exon15:c.C2483T:p.S828F,PDE4A:NM_001111308:exon15:c.C2405T:p.S802F,PDE4A:NM_001111309:exon15:c.C2300T:p.S767F,PDE4A:NM_001243121:exon17:c.C2417T:p.S806F	.	407	1112	3	0	0	3	0.0013471	.	.	.	2689273	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0354175692321	0.0002	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0012	0.0002458	38	154602	rs200707536	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0008	0.0007	0	0	0.0047	0	0	0.0009	2.159e-05	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	8.996e-05	2.405e-05	0	0	0.0066	0	0	0	5.88e-05	0	0.0006	0.105	0.31682	T	0.03	0.55759	D	0.001	0.12183	B	0.001	0.10090	B	0.000023	0.00348	N	26.848000	1	0.08975	N	0.55	0.14455	N	-0.23	0.67011	T	-0.84	0.24026	N	0.166	0.17553	-0.9207	0.45458	T	0.182	0.53026	T	10	0.0053625405	0.00118	T	0.035418	0.56331	D	0.082	0.23913	.	.	0.20808081866	0.20439	.	.	.	.	0.416911005974	0.27413	T	0.03721	0.24390	T	-0.454446	0.01063	T	-0.514712	0.20832	T	0.00529995601053614	0.00057	T	0.772323	0.40326	T	0.076765835	0.17381	0.06534811	0.13232	0.076765835	0.17380	0.06534811	0.13232	-5.77	0.44930	T	.	.	0.181	0.39408	B	.;.;.;.;.	.;.;.;.;.	1.941403	0.24657	16.48	0.85041523501616789	0.15649	0.04631	0.10296	N	AEFDBI	0.082061	0.16612	N	-0.937322620709739	0.09978	0.4747473	-0.963556982038824	0.10609	0.5354542	7.17021292329838E-4	0.07685	0.706548	0.73137	0	0.724815	0.89359	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	3.97	1.8	0.24069	0.068000	0.14398	0.246000	0.16368	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.159000	0.20615	0.0:0.7691:0.0:0.2309	6.398	0.20825	707	0.57054	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1906.33	33	chr19	10467443	.	C	T	1906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=763;ExcessHet=0;FS=1.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.29;SOR=0.838	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1920,0,1883	18	0	1	0
chr19	13074022	13074022	A	G	exonic	NFIX	.	nonsynonymous SNV	NFIX:NM_001365984:exon4:c.A811G:p.T271A,NFIX:NM_001365985:exon4:c.A811G:p.T271A,NFIX:NM_001271043:exon5:c.A838G:p.T280A,NFIX:NM_001271044:exon5:c.A790G:p.T264A,NFIX:NM_001365902:exon5:c.A814G:p.T272A,NFIX:NM_001365982:exon5:c.A814G:p.T272A,NFIX:NM_001365983:exon5:c.A673G:p.T225A,NFIX:NM_001378404:exon5:c.A790G:p.T264A,NFIX:NM_001378405:exon5:c.A862G:p.T288A,NFIX:NM_002501:exon5:c.A814G:p.T272A	Marshall-Smith syndrome, Autosomal dominant;Sotos syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00920706520434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.365	0.16717	T	0.001	0.07471	B	0.002	0.06944	B	0.002711	0.36068	N	0.256618	0.984179	0.40110	D	1.735	0.44892	L	0.97	0.42502	T	-1.79	0.42191	N	0.11	0.17140	-1.0054	0.28337	T	0.085	0.33185	T	10	0.13010448	0.24759	T	0.009207	0.24201	T	0.061	0.17616	0.282	0.23801	0.593402761518	0.59017	0.6261318516508152	0.62546	1.2810323199	0.82530	0.615586876869	0.55105	T	0.131466	0.46098	T	-0.145911	0.28954	T	-0.447367	0.27988	T	0.392924547195435	0.28675	T	0.882812	0.61998	D	0.048417006	0.08436	0.10097736	0.24159	0.048417006	0.08435	0.10097736	0.24159	-5.247	0.41905	T	0.07786687853018258	0.03689	0.066	0.03060	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.257681	0.64674	24.7	0.98407966167634742	0.41137	0.92189	0.55144	D	AEFGBI	0.539784	0.55662	D	-0.209886050461031	0.32729	1.84899	-0.0790881604665785	0.36256	2.107644	0.99501477764479	0.33909	0.706548	0.73137	0	0.610034	0.51514	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.71	2.46	0.29032	5.175000	0.64857	9.155000	0.78965	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.6983:0.3017:0.0:0.0	10.748	0.45393	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	0	0	.	.	.	.	.	.	.	.	0.02632	575.33	35	chr19	13074022	.	A	G	575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.181;DP=702;ExcessHet=0;FS=4.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.726;SOR=0.984	GT:AD:DP:GQ:PL	0/1:38,27:65:99:589,0,956	18	0	1	0
chr19	14053907	14053907	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1567C:p.G523R,PALM3:NM_001145028:exon7:c.G1765C:p.G589R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0052078798388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.557	0.09205	T	0.008	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.95	0.43279	T	-0.69	0.19720	N	0.059	0.03069	-1.0081	0.27510	T	0.053	0.22423	T	9	0.04972422	0.04603	T	0.005208	0.13279	T	0.013	0.01715	0.196	0.10839	0.139678290688	0.13603	0.027866872545468033	0.02736	.	.	0.337800443172	0.16108	T	0.001275	0.00758	T	-0.277433	0.10942	T	-0.63629	0.09943	T	0.0434918548633612	0.04328	T	0.461754	0.13398	T	0.07602174	0.17165	0.06639426	0.13595	0.07602174	0.17164	0.06639426	0.13595	-5.02	0.37056	T	.	.	0.138	0.30184	B	.	.	1.347247	0.17547	13.23	0.77371077808316469	0.11848	0.24576	0.22436	N	AEFDBCI	0.212789	0.33844	N	-1.05278905982485	0.07533	0.3502519	-1.02789764357686	0.09174	0.4549612	0.00144854144453499	0.08543	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.2	2.05	0.25860	0.412000	0.20852	0.452000	0.18532	0.549000	0.26987	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.0:0.779:0.0:0.221	6.843	0.23157	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	141.21	42	chr19	14053907	.	C	G	141.21	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-4.59;DP=2147;ExcessHet=0.3672;FS=118.101;InbreedingCoeff=-0.1673;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.812;SOR=9.087	GT:AD:DP:GQ:PL	0/1:129,31:168:38:38,0,2876	11	0	3	5
chr19	14055061	14055061	C	A	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G413T:p.S138I,PALM3:NM_001145028:exon7:c.G611T:p.S204I	.	414	1064	40	4	0	48	0.0220588	.	.	.	716206	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0107	0.00339457	0.0091	0.0047	0.0103	0	0	0.0090	0.0260	0.0113	0.0023544	364	154602	rs185854216	0.0103	0.0099	0.0102	0.0105	0.0119	0.0102	0.0101	0.0114	0.0114	0.0016	0.0039	0.0031	2.798e-05	0.0025	0.0107	0.0116	0.0099	0.0119	0.0068	0.0069	0.0075	0.0061	0.0118	0.0065	0.0063	0.0112	0.0109	0.0019	0	0.0052	0.0017	0	0.0011	0.0204	0.0118	0.0095	0.0073	0.002	0.72154	D	0.197	0.59732	T	0.076	0.24253	B	0.065	0.27321	B	0.004116	0.34102	N	0.177154	1	0.08975	N	0.69	0.16971	N	1.48	0.31731	T	-2.42	0.53096	N	0.075	0.04913	-1.0299	0.20487	T	0.028	0.12058	T	10	0.0059589446	0.00134	T	.	.	.	0.049	0.13647	.	.	0.119812018005	0.11559	0.08867927874923093	0.08800	.	.	0.354741573334	0.18618	T	0.003281	0.33640	T	-0.555945	0.00268	T	-0.560965	0.16287	T	0.0122600926185964	0.00198	T	0.657134	0.26688	T	0.16299227	0.36412	0.13598062	0.32542	0.16299227	0.36411	0.13598062	0.32541	-5.451	0.41407	T	.	.	0.098	0.16143	B	.;.	.;.	0.967823	0.13449	9.956	0.97078868628090398	0.32272	0.04107	0.09577	N	AEFDBI	0.109182	0.21694	N	-0.942614458466477	0.09859	0.4685076	-0.96274404192693	0.10628	0.5365172	7.66947260176222E-4	0.07776	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	4.69	1.0	0.18999	-0.263000	0.08695	0.014000	0.13486	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1793:0.4251:0.3956:0.0	6.761	0.22729	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	1	0	0.014493	0.005556	0.014599	0.003759	0.071429	0.000000	0.023364	0.017544	0.07895	3451.79	39	chr19	14055061	.	C	A	3451.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.309;DP=889;ExcessHet=0.3672;FS=4.918;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.34;SOR=0.475	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1296,0,1190	16	0	3	0
chr19	14451954	14451954	C	T	exonic	PKN1	.	nonsynonymous SNV	PKN1:NM_002741:exon7:c.C1096T:p.R366W,PKN1:NM_213560:exon7:c.C1114T:p.R372W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0891595112698	8.1e-05	.	8.215e-05	0	9.571e-05	0	0	9.896e-05	0	0.0001	7.12e-05	11	154602	rs370691590	7.59e-05	7.798e-05	6.732e-05	8.456e-05	0.0003	6.437e-05	5.99e-05	0.0002	0.0002	0	0.0003	0	0	0	0	7.131e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0006	6.507e-05	5.319e-05	0.0003	0.0002	2.405e-05	0	0.0006	0	0	0	0	7.35e-05	0.0005	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.985	0.77976	D	0.000148	0.49130	U	0.077562	0.873424	0.35607	D	1.735	0.44892	L	2.06	0.20523	T	-2.27	0.52128	N	0.612	0.62866	-0.8560	0.51548	T	0.116	0.41075	T	10	0.5281029	0.63026	D	0.08916	0.75273	D	0.113	0.31778	.	.	0.374301178862	0.37045	0.4709035393293721	0.47009	0.990633679352	0.74059	0.708208084106	0.68333	T	0.133231	0.46378	T	-0.225945	0.17188	T	-0.268844	0.47937	T	0.436464935541153	0.30299	T	0.948805	0.80311	D	0.10717153	0.25341	0.1399092	0.33367	0.10717153	0.25341	0.1399092	0.33366	-10.104	0.75312	D	.	.	0.444	0.61927	A	.;.	.;.	4.573111	0.72174	25.8	0.99913246200281547	0.98238	0.86220	0.45459	D	AEFDBI	0.400783	0.47553	N	0.461853480750997	0.64879	4.752636	0.371622180542998	0.59822	4.163347	2.25529318696861E-4	0.06048	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.34	3.19	0.35720	1.287000	0.32889	.	.	0.596000	0.33519	0.689000	0.28522	0.919000	0.28284	0.891000	0.42908	0.2145:0.7855:0.0:0.0	10.117	0.41767	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	766.33	36	chr19	14451954	.	C	T	766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.08;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.58;SOR=0.617	GT:AD:DP:GQ:PL	0/1:36,27:63:99:780,0,753	18	0	1	0
chr19	14751435	14751435	C	T	splicing	ADGRE2	NM_013447:exon16:c.2024+1G>A;NM_001271052:exon14:c.1850+1G>A	.	.	Vibratory urticaria, Autosomal dominant	421	1095	6	0	0	6	0.00273224	1.0000	0.888	.	2130891	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0002	0.000599042	0.0004	0	8.643e-05	0	0	0.0002	0	0.0019	0.0003363	52	154602	rs142522626	0.0003	0.0003	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	8.974e-05	0.0003	0	0	9.362e-05	0.0007	0.0002	0.0003	0.0018	0.0003	0.0003	0.0003	0.0002	0.0015	0.0002	0.0002	0.0007	0.0005	4.814e-05	0	0.0004	0	0	9.436e-05	0	0.0004	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.476354	0.00777	T	-0.476041	0.24869	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.344693	0.30055	18.32	0.87569610693784061	0.17322	0.62852	0.31908	D	AEFBI	.	.	.	0.532798330345723	0.69041	5.301074	0.211734929510506	0.50498	3.241162	0.451600599536237	0.20545	0.099367	0.02607	0	0.084543	0.02171	0	0.137589	0.03823	0	0.062806	0.01542	0	0.901935	0.56879	4.25	4.25	0.49658	3.640000	0.54086	.	.	0.542000	0.25261	0.553000	0.27369	0.318000	0.24308	0.004000	0.06068	0.0:1.0:0.0:0.0	12.509	0.55341	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1350.33	48	chr19	14751435	.	C	T	1350.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.111;DP=761;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.069;SOR=0.646	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1364,0,1306	18	0	1	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3880.44	40	chr19	17286688	.	GTGTT	*	3880.44	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.372;DP=1140;ExcessHet=2.8292;FS=10.141;InbreedingCoeff=-0.1312;MLEAC=4;MLEAF=0.105;MQ=59.99;MQRankSum=0;QD=7.89;ReadPosRankSum=1.3;SOR=0.297	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,8:33:99:.:.:1441,697,746:.	15	0	4	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,24:33:34:.:.:1246,34,0:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	1/1:1,42:43:99:2001,135,0	4	6	8	1
chr19	17306321	17306321	C	T	exonic	MRPL34	.	nonsynonymous SNV	MRPL34:NM_023937:exon2:c.C221T:p.A74V,MRPL34:NM_001382342:exon3:c.C221T:p.A74V,MRPL34:NM_001382343:exon3:c.C221T:p.A74V	.	426	1083	12	1	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0167146867553	0.0024	0.000599042	0.0025	0.0010	0.0015	0	0	0.0039	0.0034	0.0007	0.0020116	311	154602	rs201529220	0.0036	0.0036	0.0036	0.0036	0.0044	0.0035	0.0035	0.0042	0.0042	0.0007	0.0014	0.0050	0	0.0002	0.0044	0.0043	0.0029	0.0006	0.0019	0.0019	0.0021	0.0016	0.0031	0.0017	0.0016	0.0028	0.0027	0.0006	0	0.0011	0.0043	0.0004	0.0002	0.0034	0.0031	0.0028	0.0002	0.055	0.38407	T	0.034	0.55341	D	0.684	0.41517	P	0.258	0.39350	B	0.022374	0.26647	N	0.373844	1	0.08975	N	.	.	.	.	.	.	-2.44	0.53420	N	0.129	0.12341	-1.0680	0.09858	T	0.048	0.20474	T	8	0.008139521	0.00185	T	0.016715	0.38109	T	0.033	0.08068	.	.	0.0482279557977	0.04254	0.34964652371029237	0.34878	0.818420535003	0.67045	0.372713327408	0.21221	T	0.269543	0.64175	T	-0.461973	0.00956	T	-0.435965	0.29261	T	0.0297180490978326	0.01947	T	0.941906	0.79945	D	0.2534463	0.48367	0.36903355	0.62182	0.2534463	0.48367	0.36903355	0.62181	-7.606	0.58353	D	.	.	0.247	0.48209	B	.;.;.;.	.;.;.;.	2.362440	0.30306	18.39	0.9945576635069544	0.65530	0.06481	0.12490	N	ALL	0.408312	0.48004	N	-0.524480061016894	0.21289	1.128802	-0.644933127558455	0.18344	0.9795578	0.999999999969946	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.04	1.27	0.20595	0.780000	0.26421	-0.392000	0.09469	0.599000	0.40250	0.004000	0.16614	0.000000	0.08366	0.113000	0.18872	0.1252:0.498:0.3768:0.0	9.894	0.40473	779	0.47767	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003528	0.005155	0.004076	0.002924	0.000000	0.000000	0.012195	0.000000	0.02632	819.33	34	chr19	17306321	.	C	T	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.042;DP=705;ExcessHet=0;FS=1.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.112;SOR=0.597	GT:AD:DP:GQ:PL	0/1:33,37:70:99:833,0,785	18	0	1	0
chr19	17527335	17527335	A	C	exonic	NIBAN3	.	nonsynonymous SNV	NIBAN3:NM_001098524:exon2:c.A88C:p.S30R,NIBAN3:NM_173544:exon2:c.A88C:p.S30R	.	395	1097	30	0	0	30	0.0134892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	8.3e-05	0.00139776	0.0053	0	0	0	0	0.0004	0	0.0128	0.0008215	127	154602	rs200304763	0.0010	0.0010	0.0007	0.0014	0.0108	0.0010	0.0010	0.0102	0.0100	9.506e-05	0.0005	7.965e-05	2.806e-05	4.114e-05	0.0080	0.0004	0.0011	0.0108	0.0007	0.0007	0.0006	0.0007	0.0075	0.0006	0.0005	0.0056	0.0049	4.826e-05	0	0.0007	0	0	0	0.0102	0.0007	0	0.0075	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.711885	0.10006	N	0.829479	1	0.18612	N	0.805	0.20218	L	1.96	0.22881	T	-0.72	0.20358	N	0.154	0.20395	-1.0199	0.23747	T	0.033	0.14334	T	10	0.0032359958	0.00055	T	.	.	.	0.020	0.03691	0.128	0.03331	0.0551355673512	0.04727	0.10362123673088532	0.10292	0.297826473025	0.32164	0.396594941616	0.24595	T	0.004484	0.03887	T	-0.615447	0.00117	T	-0.647429	0.09135	T	0.0140267319805013	0.00271	T	0.474053	0.14146	T	0.20258251	0.42308	0.14731982	0.34868	0.20258251	0.42308	0.14731982	0.34867	-3.54	0.17211	T	.	.	0.227	0.45859	B	.;.;.	.;.;.	0.277170	0.06543	3.028	0.98585880563833139	0.43310	0.01256	0.04413	N	AEFDGBHCI	0.085487	0.17329	N	-1.27972693873513	0.03920	0.1760011	-1.39533097773698	0.03301	0.1537287	0.999999724864787	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.98	-3.67	0.04187	-0.124000	0.10571	0.068000	0.14222	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.3189:0.1624:0.5187:0.0	6.652	0.22157	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006257	0.000000	0.007622	0.006329	0.000000	0.000000	0.010345	0.012397	0.02632	537.33	33	chr19	17527335	.	A	C	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.553;DP=704;ExcessHet=0;FS=7.729;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.094;SOR=0.666	GT:AD:DP:GQ:PL	0/1:31,23:54:99:551,0,899	18	0	1	0
chr19	18266981	18266981	T	C	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon3:c.A559G:p.M187V,IQCN:NM_001145305:exon3:c.A421G:p.M141V,IQCN:NM_025249:exon3:c.A559G:p.M187V	.	418	1026	72	6	0	84	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0031	0.00758786	0.0073	0.0009	0.0029	0	0.0005	0.0036	0.0112	0.0358	0.0066105	1022	154602	rs146146831	0.0046	0.0046	0.0036	0.0056	0.0358	0.0045	0.0045	0.0347	0.0343	0.0009	0.0034	0.0110	0.0001	0.0006	0.0324	0.0023	0.0066	0.0358	0.0033	0.0033	0.0028	0.0039	0.0339	0.0031	0.0030	0.0297	0.0281	0.0004	0	0.0059	0.0112	0.0002	0.0008	0.0306	0.0025	0.0066	0.0339	0.114	0.28646	T	0.244	0.48594	T	0.378	0.34287	B	0.05	0.25278	B	0.021713	0.26779	N	0.180201	1	0.08975	N	.	.	.	3.92	0.03650	T	-1.52	0.36980	N	0.203	0.22870	-0.9422	0.42266	T	0.008	0.02968	T	10	0.003352046	0.00058	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.05319012485728733	0.05261	0.24097835035	0.26633	0.285850286484	0.08321	T	0.029514	0.21131	T	-0.508874	0.00509	T	-0.477976	0.24662	T	0.00489690506692615	0.00053	T	0.551245	0.19298	T	0.2013452	0.42141	0.13866098	0.33107	0.2013452	0.42141	0.13866098	0.33106	-2.483	0.05666	T	.	.	0.108	0.30868	B	.;.;.;.	.;.;.;.	0.527022	0.08959	5.739	0.50393029527930266	0.04376	0.03004	0.07870	N	AEFDBCI	0.049198	0.08476	N	-0.809732432116235	0.13061	0.6408367	-0.892680457518492	0.12266	0.6299993	0.061590484083595	0.15236	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	3.23	2.15	0.26590	1.648000	0.36886	0.443000	0.18445	0.609000	0.47794	0.009000	0.18154	0.000000	0.08366	0.035000	0.13729	0.0:0.0:0.2574:0.7426	6.295	0.20289	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	0.022659	0.015152	0.023098	0.035088	0.000000	0.025862	0.033537	0.015152	0.1053	5960.41	33	chr19	18266981	.	T	C	5960.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.894;DP=1301;ExcessHet=0.0101;FS=0.904;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=0.36;SOR=0.648	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1440,0,1488	16	1	2	0
chr19	19544848	19544848	C	G	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.C2303G:p.A768G	.	415	1074	33	0	0	33	0.0151307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0013	0.00279553	0.0042	0.0008	0.0029	0.0001	0.0002	0.0028	0.0054	0.0154	0.0032212	498	154602	rs183579609	0.0025	0.0025	0.0020	0.0031	0.0231	0.0025	0.0024	0.0199	0.0187	0.0009	0.0017	0.0043	5.048e-05	0.0004	0.0231	0.0016	0.0031	0.0156	0.0020	0.0020	0.0018	0.0023	0.0161	0.0018	0.0018	0.0133	0.0122	0.0009	0	0.0015	0.0063	0	9.409e-05	0.0102	0.0020	0.0028	0.0161	0.281	0.15458	T	0.365	0.16766	T	0.67	0.41173	P	0.138	0.33406	B	0.004102	0.34102	N	0.294180	0.973073	0.25567	N	0	0.06538	N	2.92	0.09915	T	-1.73	0.41046	N	0.178	0.20660	-1.0066	0.27973	T	0.012	0.04416	T	10	0.006175101	0.00139	T	.	.	.	0.026	0.05648	.	.	0.221734844693	0.21761	0.48943640471560984	0.48863	0.540324238068	0.51227	0.587623178959	0.51159	T	0.059749	0.31200	T	-0.638053	0.00086	T	-0.676322	0.07210	T	0.00500560574170787	0.00054	T	0.763824	0.39073	T	0.12832758	0.30005	0.07520777	0.16535	0.12832758	0.30005	0.07520777	0.16534	-3.199	0.12468	T	.	.	0.110	0.21239	B	.;.	.;.	2.135784	0.27195	17.38	0.98322670361795883	0.40261	0.14627	0.18502	N	AEFBI	0.097155	0.19600	N	-0.415863986299695	0.24913	1.348598	-0.422221171552598	0.24347	1.332705	0.0472752000595685	0.14724	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.89	2.7	0.31007	1.369000	0.33832	.	.	0.524000	0.24156	0.011000	0.18532	0.640000	0.25910	0.920000	0.45560	0.0:0.6119:0.1984:0.1897	4.381	0.10728	432	0.80690	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014113	0.005155	0.012262	0.035088	0.000000	0.017241	0.003049	0.022727	0.05263	3867.83	36	chr19	19544848	.	C	G	3867.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.468;DP=872;ExcessHet=0.119;FS=1.106;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=2.77;SOR=0.612	GT:AD:DP:GQ:PL	0/1:46,81:127:99:2177,0,1054	17	0	2	0
chr19	19563561	19563561	C	T	exonic	PBX4	.	nonsynonymous SNV	PBX4:NM_025245:exon7:c.G980A:p.R327Q	.	421	1045	53	3	0	59	0.0274546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0020	0.00519169	0.0146	0.0017	0.0205	0	0.025	0.0063	0.0215	0.0265	0.002859	442	154602	rs141765874	0.0033	0.0033	0.0026	0.0041	0.0238	0.0032	0.0032	0.0228	0.0224	0.0009	0.0023	0.0074	5.548e-05	0.0004	0.0238	0.0019	0.0045	0.0237	0.0027	0.0027	0.0023	0.0032	0.0259	0.0025	0.0024	0.0222	0.0208	0.0006	0	0.0030	0.0089	0.0002	9.425e-05	0.0272	0.0025	0.0052	0.0259	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.029183	0.25490	N	0.374285	0.99985	0.20048	N	-0.835	0.01514	N	-2.43	0.88689	D	0.55	0.02721	N	0.054	0.02559	-0.7570	0.57567	T	0.162	0.49698	T	10	0.00417009	0.00083	T	.	.	.	0.158	0.41098	.	.	0.652033478655	0.64913	0.22012128260220112	0.21928	0.172531800969	0.19429	0.427890986204	0.28921	T	0.015137	0.12752	T	-0.542268	0.00325	T	-0.533453	0.18944	T	0.000349907009447481	0.00003	T	0.428457	0.11587	T	0.017614858	0.00288	0.026358206	0.00721	0.017614858	0.00287	0.026358206	0.00720	-2.182	0.03954	T	.	.	0.064	0.01762	B	.	.	-0.526882	0.01783	0.137	0.20598641616943153	0.00748	0.02920	0.07728	N	AEFDBI	0.025959	0.01868	N	-1.48482500715598	0.01957	0.0859137	-1.39234968934554	0.03333	0.1552553	0.00453885202476798	0.10604	0.696267	0.57585	0	0.577304	0.33150	0	0.691665	0.62940	0	0.613276	0.41899	0	.	.	3.23	-0.5	0.11412	0.432000	0.21180	.	.	-0.927000	0.02165	0.933000	0.32380	0.026000	0.21063	0.011000	0.09372	0.0:0.3662:0.0:0.6338	6.545	0.21597	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020697	0.011111	0.014837	0.049689	0.000000	0.019608	0.006667	0.028226	0.07895	4946.79	34	chr19	19563561	.	C	T	4946.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.266;DP=939;ExcessHet=0.3672;FS=0.843;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.945;SOR=0.759	GT:AD:DP:GQ:PL	0/1:36,61:97:99:1692,0,754	16	0	3	0
chr19	19633954	19633954	C	A	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_001288998:exon18:c.G2234T:p.S745I,GMIP:NM_001288999:exon18:c.G2243T:p.S748I,GMIP:NM_016573:exon19:c.G2321T:p.S774I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00672043271566	0.0025	0.00159744	0.0023	0.0004	0.0007	0	0.0004	0.0038	0.0056	0.0002	0.0016947	262	154602	rs141276910	0.0033	0.0032	0.0034	0.0032	0.0039	0.0032	0.0032	0.0038	0.0038	0.0006	0.0004	0.0100	0	0.0006	0.0009	0.0039	0.0025	8.306e-05	0.0023	0.0021	0.0025	0.0020	0.0035	0.0020	0.0020	0.0031	0.0029	0.0004	0	0.0014	0.0108	0	0.0007	0	0.0035	0.0018	0	0.128	0.26965	T	0.049	0.48336	D	0.61	0.39628	P	0.168	0.35187	B	0.090998	0.20348	N	0.417116	0.96435	0.25985	N	2.34	0.67151	M	1.93	0.22881	T	-0.96	0.25551	N	0.292	0.36989	-1.0748	0.08390	T	0.033	0.14073	T	10	0.005707234	0.00127	T	0.00672	0.17756	T	0.015	0.02232	.	.	0.500426043041	0.49678	0.3309748738387334	0.33010	0.689296291096	0.60477	0.391758441925	0.23917	T	0.023811	0.18107	T	-0.571316	0.00217	T	-0.595222	0.13216	T	0.0132169428181038	0.00235	T	0.738526	0.35642	T	0.08935821	0.20875	0.0695477	0.14668	0.08935821	0.20874	0.0695477	0.14667	-6.007	0.46339	T	.	.	0.090	0.18910	B	.;.	.;.	2.445063	0.31476	18.75	0.9819931339563247	0.39105	0.49835	0.28524	N	AEFDBI	0.097691	0.19698	N	-0.427019767423166	0.24526	1.324899	-0.440645345335583	0.23814	1.300721	0.00797432926389712	0.11584	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.43	2.08	0.26079	0.106000	0.15191	.	.	0.599000	0.40250	0.165000	0.23867	1.000000	0.68203	0.071000	0.16709	0.1975:0.6114:0.1912:0.0	7.034	0.24162	437	0.80299	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.000000	0.02632	2062.33	36	chr19	19633954	.	C	A	2062.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.108;DP=793;ExcessHet=0;FS=0.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.64;ReadPosRankSum=0.527;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,55:105:99:0|1:19633953_G_A:2076,0,1934:19633953	18	0	1	0
chr19	20552547	20552547	G	C	exonic	ZNF737	.	nonsynonymous SNV	ZNF737:NM_001159293:exon3:c.C154G:p.L52V	.	440	1058	22	2	0	26	0.0121382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00316882630094	0.0011	0.000599042	0.0011	0	0.0004	0	0	0.0010	0.0011	0.0040	0.0010479	162	154602	rs368041422	0.0010	0.0010	0.0009	0.0011	0.0074	0.0009	0.0009	0.0056	0.0050	9.444e-05	0.0004	3.998e-05	0	0.0002	0.0074	0.0009	0.0014	0.0037	0.0007	0.0007	0.0007	0.0007	0.0025	0.0006	0.0006	0.0014	0.0011	0.0002	0	0.0006	0	0	0	0	0.0012	0	0.0025	0.001	0.78490	D	0.493	0.18903	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.07	0.08264	N	5.65	0.00784	T	-2.18	0.49187	N	0.173	0.20262	-0.8989	0.48105	T	0.003	0.00961	T	8	0.0093719065	0.00212	T	0.003169	0.06936	T	0.024	0.04979	.	.	0.0297737177859	0.01360	.	.	0.00567692617777	0.00497	0.458891749382	0.33158	T	0.017054	0.13979	T	-0.693943	0.00040	T	-0.771367	0.02723	T	0.553232371807098	0.34598	D	0.0182982	0.00306	T	0.1200492	0.28256	0.1962533	0.43346	0.1200492	0.28256	0.1962533	0.43345	-6.381	0.49361	T	.	.	0.083	0.15609	B	.;.	.;.	-0.177890	0.03206	0.531	0.36203879351737073	0.02316	0.00143	0.00871	N	AEFBI	0.025625	0.01787	N	-1.52102344578456	0.01712	0.07491673	-1.67581497964634	0.01248	0.0562457	2.17118306685649E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	0.118	-0.237	0.12417	-4.164000	0.00320	.	.	-2.371000	0.00303	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	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	0.004242	0.000000	0.004087	0.004132	0.000000	0.008621	0.006135	0.003817	0.02632	1554.33	45	chr19	20552547	.	G	C	1554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.169;DP=902;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.7;SOR=0.668	GT:AD:DP:GQ:PL	0/1:78,74:152:99:1568,0,1950	18	0	1	0
chr19	31278387	31278387	T	C	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.A1406G:p.E469G	.	425	1043	52	2	0	56	0.0261438	.	.	.	2811945	not_provided|TSHZ3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0085	0.00359425	0.0081	0.0020	0.0055	0	0.0070	0.0114	0.0077	0.0047	0.0079947	1236	154602	rs143453460	0.0088	0.0088	0.0088	0.0089	0.0331	0.0087	0.0087	0.0293	0.0278	0.0014	0.0075	0.0135	5.038e-05	0.0072	0.0331	0.0096	0.0088	0.0051	0.0079	0.0079	0.0078	0.0079	0.0118	0.0075	0.0073	0.0111	0.0109	0.0016	0.0088	0.0086	0.0132	0.0002	0.0083	0.0204	0.0118	0.0090	0.0050	0.095	0.31235	T	0.064	0.44905	T	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.052145	1	0.81001	D	2.845	0.82663	M	1.16	0.38073	T	-2.53	0.54864	D	0.672	0.67995	-0.8215	0.53840	T	0.158	0.49178	T	10	0.00796181	0.00181	T	.	.	.	0.099	0.28413	.	.	0.668435367997	0.66563	0.44621226733114294	0.44539	0.575786504129	0.53563	0.549082219601	0.45728	T	0.212995	0.57419	T	-0.405	0.02146	T	-0.342207	0.40095	T	0.0473550736142879	0.05028	T	0.853215	0.53849	D	0.26470783	0.49538	0.26104176	0.51876	0.26470783	0.49538	0.26104176	0.51875	-7.154	0.55150	T	.	.	0.269	0.50343	B	.	.	3.996679	0.58859	24.0	0.99862304394547563	0.94093	0.97677	0.76345	D	AEFBI	0.849500	0.76632	D	0.675782667056535	0.78046	6.793271	0.6573475887853	0.79160	7.023753	0.999993336927848	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.827000	0.68989	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.0:1.0	15.718	0.77443	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.032226	0.020202	0.036685	0.038012	0.000000	0.025862	0.012195	0.037879	0.02632	2204.33	39	chr19	31278387	.	T	C	2204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.874;DP=1493;ExcessHet=0;FS=6.996;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.414;SOR=0.822	GT:AD:DP:GQ:PL	0/1:80,75:155:99:2218,0,2362	18	0	1	0
chr19	34684172	34684203	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	-	exonic	ZNF302	.	nonframeshift deletion	ZNF302:NM_001289188:exon5:c.398_429del:p.*133*,ZNF302:NM_001289189:exon5:c.398_429del:p.*133*,ZNF302:NM_001289190:exon5:c.395_426del:p.*132*,ZNF302:NM_001289191:exon5:c.395_426del:p.*132*,ZNF302:NM_001289192:exon5:c.395_426del:p.*132*,ZNF302:NM_018675:exon5:c.395_426del:p.*132*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0131	0.0172	0.0043	0.0608	0.0093	0.0093	0.0191	0.0141	0.0001153	3	26028	rs757903161	0.0076	0.0056	0.0071	0.0082	0.0717	0.0075	0.0074	0.0680	0.0665	0.0188	0.0038	0.0058	0.0717	0.0058	0.0112	0.0049	0.0125	0.0214	0.0113	0.0066	0.0102	0.0127	0.1199	0.0103	0.0100	0.1041	0.0981	0.0059	0	0.0138	0.0013	0.1199	0.0027	0	0.0052	0.0182	0.0327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1627.07	.	chr19	34684171	.	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T	1627.07	.	AC=2;AF=0.125;AN=16;BaseQRankSum=1.65;DP=266;ExcessHet=0;FS=0;InbreedingCoeff=0.28;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=33.21;ReadPosRankSum=0.715;SOR=0.848	GT:AD:DP:GQ:PL	0/1:5,14:19:99:558,0,122	6	0	2	11
chr19	36141122	36141122	-	GGCGGCGGCGGCGGCGGC	exonic	CAPNS1	.	nonframeshift insertion	CAPNS1:NM_001003962:exon2:c.111_112insGGCGGCGGCGGCGGCGGC:p.G56_T57insGGGGGG,CAPNS1:NM_001302632:exon2:c.111_112insGGCGGCGGCGGCGGCGGC:p.G56_T57insGGGGGG,CAPNS1:NM_001749:exon2:c.111_112insGGCGGCGGCGGCGGCGGC:p.G56_T57insGGGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs536693322	7.936e-05	7.402e-05	7.524e-05	8.366e-05	9.547e-05	6.604e-05	6.125e-05	7.178e-05	6.602e-05	8.777e-05	9.547e-05	0	0	0	0	8.718e-05	8.365e-05	5.874e-05	0.0001	0.0001	0.0001	9.595e-05	0.0002	6.616e-05	5.408e-05	0.0001	7.98e-05	2.456e-05	0	0.0002	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	552.78	23	chr19	36141122	.	G	GGGCGGCGGCGGCGGCGGC	552.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=595;ExcessHet=0.119;FS=1.432;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.954;SOR=0.379	GT:AD:DP:GQ:PL	0/1:17,3:20:66:66,0,665	18	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	2917.36	105	chr19	37887093	.	A	G	2917.36	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-4.617;DP=2024;ExcessHet=4.0268;FS=255.677;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=1.55;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,29:116:99:0|1:37887093_A_G:345,0,3182:37887093	10	0	8	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3214	3330.01	92	chr19	37887095	.	C	T	3330.01	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-3.747;DP=1972;ExcessHet=5.3738;FS=263.164;InbreedingCoeff=-0.434;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.09;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,30:117:99:0|1:37887093_A_G:367,0,3179:37887093	5	0	9	5
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	4138.4	92	chr19	37887096	.	A	G	4138.4	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-3.922;DP=2038;ExcessHet=8.9063;FS=263.024;InbreedingCoeff=-0.515;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.27;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,29:115:99:0|1:37887093_A_G:363,0,3147:37887093	4	0	11	4
chr19	38385530	38385530	G	C	exonic	GGN	.	nonsynonymous SNV	GGN:NM_152657:exon3:c.C1732G:p.R578G	.	422	1087	13	0	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0187253998177	0.0005	0.000798722	0.0010	0.0002	0.0011	0	0.0003	0.0010	0.0023	0.0019	0.0008344	129	154602	rs148338405	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0022	0.0021	8.962e-05	0.0006	7.658e-05	0	0.0001	0.0017	0.0007	0.0008	0.0025	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0008	0.0006	0.0001	0	0.0005	0	0	0	0.0068	0.0007	0.0009	0.0017	1.0	0.00964	T	0.377	0.16134	T	0.0	0.02946	B	0.0	0.01387	B	0.265860	0.15223	N	0.485676	1	0.08975	N	-0.895	0.01383	N	.	.	.	-0.38	0.13418	N	0.064	0.03613	-0.9675	0.37713	T	0.019	0.07800	T	9	0.005235046	0.00114	T	0.018725	0.40888	T	0.047	0.12962	.	.	0.229924730088	0.22615	0.1561007211257281	0.15531	0.401460243881	0.41128	0.438708156347	0.30400	T	0.00375	0.03161	T	-0.551767	0.00285	T	-0.570278	0.15424	T	0.0122056076163717	0.00196	T	0.407159	0.10452	T	0.06075785	0.12503	0.05806986	0.10667	0.06075785	0.12503	0.05806986	0.10667	-2.796	0.08147	T	.	.	0.055	0.00368	B	.	.	0.363569	0.07360	3.981	0.85796995377976326	0.16118	0.00682	0.02924	N	AEFDBHCI	0.036751	0.04948	N	-1.4922867451348	0.01904	0.08355226	-1.413968683784	0.03112	0.1445218	0.999966187034908	0.48965	0.205752	0.04085	2	0.379588	0.06130	0	0.459711	0.06710	0	0.508809	0.08732	0	.	.	3.46	-0.564	0.11185	-1.493000	0.02403	-0.716000	0.07727	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.0:0.4065:0.4591:0.1343	5.31	0.15133	601	0.67921	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.050000	0.000000	0.003049	0.000000	0.05263	3315.83	33	chr19	38385530	.	G	C	3315.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.53;DP=887;ExcessHet=0.119;FS=0.432;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.072;SOR=0.664	GT:AD:DP:GQ:PL	0/1:71,54:125:99:1375,0,1688	17	0	2	0
chr19	38566986	38566986	G	C	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_001042723:exon91:c.G13498C:p.D4500H,RYR1:NM_000540:exon92:c.G13513C:p.D4505H	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	0	1517	5	0	0	5	0.00164528	0.0023	0.02	.	99159	not_specified|Malignant_hyperthermia_of_anesthesia|Central_core_myopathy|Congenital_multicore_myopathy_with_external_ophthalmoplegia|Congenital_myopathy_with_fiber_type_disproportion|Malignant_hyperthermia,_susceptibility_to,_1|King_Denborough_syndrome|RYR1-related_disorder|EMG:_myopathic_abnormalities|Generalized_muscle_weakness|Congenital_hip_dislocation|Congenital_muscular_dystrophy|not_provided|Myopathy,_progressive_axial_with_cataracts	MedGen:CN169374|Human_Phenotype_Ontology:HP:0034733,MONDO:MONDO:0018493,MedGen:C0024591,Orphanet:423|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542|MedGen:CN239331|Human_Phenotype_Ontology:HP:0003322,Human_Phenotype_Ontology:HP:0003458,Human_Phenotype_Ontology:HP:0003711,Human_Phenotype_Ontology:HP:0009021,MedGen:C4021726|Human_Phenotype_Ontology:HP:0003324,Human_Phenotype_Ontology:HP:0003686,Human_Phenotype_Ontology:HP:0003723,MedGen:C0746674|Human_Phenotype_Ontology:HP:0001374,MedGen:C0019555|Human_Phenotype_Ontology:HP:0003741,Human_Phenotype_Ontology:HP:0003793,MONDO:MONDO:0019950,MedGen:C0699743,Orphanet:97242|MedGen:C3661900|MedGen:CN221568	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.663	0.349568962691	0.0033	0.00179712	0.0061	0.0016	0.0021	0	0.0024	0.0097	0.0030	0.0030	0.0032406	501	154602	rs150396398	0.0056	0.0055	0.0057	0.0055	0.0066	0.0055	0.0054	0.0064	0.0064	0.0009	0.0015	0.0047	0	0.0016	0.0005	0.0066	0.0045	0.0027	0.0033	0.0033	0.0034	0.0032	0.0056	0.0031	0.0030	0.0052	0.0050	0.0012	0	0.0019	0.0049	0	0.0012	0	0.0056	0.0014	0.0021	0.005	0.65419	D	.	.	.	1.0	0.90584	D	0.998	0.92359	D	0.000003	0.62929	U	0.000000	0.995788	0.42855	D	2.535	0.73915	M	-3.79	0.95663	D	-4.0	0.74051	D	0.773	0.77039	0.856	0.95107	D	0.884	0.96159	D	10	0.028258473	0.00960	T	0.349569	0.92232	D	0.663	0.87430	.	.	0.98892223866	0.98879	0.5731486778994425	0.57242	0.678197850904	0.59866	0.658598899841	0.61208	T	0.850588	0.96597	D	-0.0124184	0.49926	T	0.213111	0.83823	D	0.0525013663598184	0.05934	T	0.938806	0.76978	D	0.5693835	0.71026	0.47030425	0.69283	0.61485875	0.73489	0.4457878	0.67715	-7.162	0.55208	T	.	.	0.715	0.73595	P	.;.	.;.	3.359262	0.46366	22.3	0.46110370674987167	0.03669	0.79803	0.39617	D	AEFDBI	0.520208	0.54516	D	0.475060204841849	0.65638	4.847722	0.352072574367908	0.58631	4.034945	0.999884147794457	0.44867	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	3.93	3.93	0.44666	2.971000	0.48940	11.415000	0.92701	0.614000	0.49286	0.996000	0.39380	1.000000	0.68203	0.070000	0.16646	0.0:0.0:1.0:0.0	15.916	0.79304	659	0.61982	.;Ryanodine Receptor TM 4-6	.	.	.	.	.	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	0.002064	0.000000	0.001362	0.000000	0.000000	0.000000	0.003185	0.003906	0.05263	1907.83	34	chr19	38566986	.	G	C	1907.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.21;DP=715;ExcessHet=0.119;FS=3.288;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.807;SOR=0.993	GT:AD:DP:GQ:PL	0/1:25,43:68:99:1194,0,488	17	0	2	0
chr19	38710283	38710283	G	A	exonic	ACTN4	.	nonsynonymous SNV	ACTN4:NM_004924:exon8:c.G760A:p.E254K	Glomerulosclerosis, focal segmental, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.919	0.719111265723	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1004686336	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	1.875e-05	0	1.799e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.019	0.59159	D	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	-4.01	0.96370	D	-3.63	0.69714	D	0.944	0.95139	1.068	0.98536	D	0.935	0.97873	D	10	0.9742092	0.97124	D	0.719111	0.97726	D	0.919	0.97928	0.836	0.94356	0.997079320666	0.99704	0.9840768282707659	0.98400	2.63768877177	0.98388	0.917367100716	0.98116	D	0.948228	0.99235	D	0.416965	0.90860	D	0.530293	0.95237	D	0.991997420787811	0.82376	D	.	.	.	0.9309471	0.94331	0.90864885	0.95593	0.9309471	0.94332	0.90864885	0.95593	-12.781	0.88440	D	.	.	0.999	0.97850	P	.	.	5.436462	0.90883	32	0.99937525139932015	0.99661	0.99542	0.97254	D	AEFDBHI	0.957539	0.97677	D	0.941377354096548	0.93633	12.17108	0.927690213103862	0.96670	14.98974	0.999999999999963	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	10.003000	0.99689	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.750	0.91774	730	0.54327	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1709.33	33	chr19	38710283	.	G	A	1709.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=774;ExcessHet=0;FS=2.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=1.44;SOR=0.718	GT:AD:DP:GQ:PL	0/1:81,66:147:99:1723,0,1979	18	0	1	0
chr19	39830764	39830764	A	G	exonic	DYRK1B	.	nonsynonymous SNV	DYRK1B:NM_004714:exon3:c.T83C:p.L28P,DYRK1B:NM_006483:exon3:c.T83C:p.L28P,DYRK1B:NM_006484:exon3:c.T83C:p.L28P	Abdominal obesity-metabolic syndrome 3, Autosomal dominant	422	1070	27	3	0	33	0.0151864	.	.	.	716444	not_provided|not_specified|DYRK1B-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.086	.	0.0019	0.00399361	0.0046	0.0003	0.0032	0.0001	0	0.0021	0.0058	0.0237	0.0040038	619	154602	rs34587974	0.0027	0.0027	0.0021	0.0034	0.0218	0.0027	0.0026	0.0210	0.0207	0.0003	0.0021	0.0025	0.0001	0.0002	0.0099	0.0016	0.0027	0.0218	0.0020	0.0020	0.0018	0.0021	0.0201	0.0018	0.0017	0.0168	0.0156	0.0004	0.0263	0.0021	0.0032	0.0004	9.409e-05	0.0136	0.0016	0.0024	0.0201	0.054	0.39820	T	0.211	0.38742	T	0.94	0.56013	P	0.36	0.49647	B	0.004706	0.33466	N	0.218004	0.999998	0.58761	D	1.15	0.29295	L	0.51	0.55775	T	-1.43	0.35194	N	0.321	0.52297	-0.9494	0.41075	T	0.152	0.48118	T	10	0.008390218	0.00190	T	.	.	.	0.086	0.25016	.	.	0.696307968527	0.69369	0.5615938848674867	0.56086	1.76035964692	0.91122	0.632241129875	0.57463	T	0.105355	0.41575	T	-0.347917	0.04860	T	-0.25495	0.49326	T	0.0441409249677052	0.04446	T	.	.	.	0.3156542	0.54271	0.24862657	0.50417	0.31791952	0.54463	0.25629076	0.51325	-2.796	0.08147	T	.	.	0.128	0.30184	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.735697	0.76313	26.5	0.9984869095352803	0.92838	0.97905	0.78016	D	AEFDBHI	0.804091	0.72905	D	0.230180320715182	0.52667	3.439396	0.292507250458728	0.55099	3.673524	0.99999944425382	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.93	4.93	0.64394	4.343000	0.59128	.	.	0.756000	0.94297	0.995000	0.38783	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	12.545	0.55543	638	0.64280	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007568	0.000000	0.002717	0.002924	0.000000	0.008621	0.012195	0.022727	0.05263	2212.83	35	chr19	39830764	.	A	G	2212.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.096;DP=784;ExcessHet=0.119;FS=9.647;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.64;SOR=1.366	GT:AD:DP:GQ:PL	0/1:48,35:83:99:960,0,1394	17	0	2	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,28:43:99:0|1:40667975_C_T:1072,0,519:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,28:43:99:0|1:40667975_C_T:1072,0,519:40667975	1	7	11	0
chr19	41625900	41625900	G	A	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362492:exon2:c.C125T:p.P42L,CEACAM4:NM_001362495:exon2:c.C125T:p.P42L,CEACAM4:NM_001817:exon2:c.C125T:p.P42L	.	215	1291	16	0	0	16	0.00615858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0039856705986	0.0012	0.00119808	0.0018	0.0002	0.0003	0	0	0.0015	0.0033	0.0069	0.0016559	256	154602	rs148045742	0.0015	0.0015	0.0013	0.0017	0.0082	0.0014	0.0014	0.0066	0.0064	0.0001	0.0004	0.0003	5.038e-05	0.0002	0.0082	0.0012	0.0015	0.0071	0.0010	0.0010	0.0011	0.0010	0.0056	0.0009	0.0008	0.0040	0.0034	0.0002	0	0.0005	0	0	0	0	0.0016	0.0014	0.0056	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.71	0.79292	M	-0.24	0.66834	T	-8.87	0.97888	D	0.206	0.22870	-0.4897	0.69019	T	0.544	0.83208	D	9	0.00583449	0.00130	T	0.003986	0.09431	T	0.113	0.31778	.	.	0.651368938621	0.64847	0.15995245192304647	0.15916	0.202668687371	0.22686	0.285314321518	0.08243	T	0.231281	0.59757	T	-0.393684	0.02546	T	-0.335942	0.40805	T	0.119876057199896	0.14417	T	.	.	.	0.12219163	0.28720	0.12415128	0.29929	0.12219163	0.28719	0.12415128	0.29928	-8.312	0.63176	D	.	.	0.468	0.67221	A	.;.	.;.	1.468730	0.18922	14.00	0.9919974733455057	0.55231	0.01485	0.04937	N	AEFDBI	0.030968	0.03219	N	-0.0433440237286437	0.39899	2.360587	-0.38461111959841	0.25455	1.399978	0.99988676870225	0.44867	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.76	1.76	0.23776	0.651000	0.24559	0.029000	0.13704	0.478000	0.22058	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.954	0.23738	840	0.37365	Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004541	0.000000	0.000000	0.011834	0.000000	0.008621	0.009146	0.003788	0.02632	1394.33	34	chr19	41625900	.	G	A	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.754;SOR=0.757	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1408,0,1497	18	0	1	0
chr19	41850634	41850634	C	T	exonic	DMRTC2	.	nonsynonymous SNV	DMRTC2:NM_001040283:exon8:c.C925T:p.R309C	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0151382974224	.	0.000399361	0.0004	0	0	0	0	0.0002	0.0011	0.0022	0.0003558	55	154602	rs570849828	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	0	0	0.0035	0	0	0.0005	3.238e-05	0.0004	0.0019	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	2.407e-05	0	0	0.0052	0	0	0	5.881e-05	0	0.0019	0.0	0.91255	D	0.007	0.69154	D	0.066	0.23586	B	0.01	0.14941	B	0.343282	0.13929	N	0.646965	0.975155	0.39165	D	1.35	0.33515	L	1.17	0.37910	T	-1.66	0.39692	N	0.331	0.37197	-0.9891	0.32828	T	0.076	0.30492	T	10	0.0041258633	0.00081	T	0.015138	0.35698	T	0.041	0.10877	.	.	0.0675242888579	0.06100	0.17620528844629763	0.17539	0.265104472767	0.29064	0.564645648003	0.47922	T	0.211138	0.57182	T	-0.475531	0.00786	T	-0.462628	0.26314	T	0.152769076024258	0.17322	T	0.789321	0.42944	T	0.28304055	0.51338	0.099242084	0.23687	0.28304055	0.51338	0.099242084	0.23686	-4.251	0.27484	T	.	.	0.132	0.28578	B	.;.	.;.	1.691219	0.21548	15.25	0.97817749172995205	0.36174	0.09116	0.14936	N	AEFBI	0.249117	0.36941	N	-0.417989625751593	0.24839	1.344033	-0.38369808531584	0.25483	1.401657	0.966695435568675	0.28923	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	4.5	2.16	0.26663	0.550000	0.23052	0.061000	0.14131	-0.236000	0.07595	0.268000	0.25027	0.001000	0.17328	0.447000	0.27828	0.2099:0.6801:0.0:0.11	4.871	0.12992	799	0.44747	Doublesex- and mab-3-related transcription factor C1/C2, C-terminal;Doublesex- and mab-3-related transcription factor C1/C2, 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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	812.33	33	chr19	41850634	.	C	T	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.771;DP=744;ExcessHet=0;FS=0.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.548;SOR=0.941	GT:AD:DP:GQ:PL	0/1:28,32:60:99:826,0,640	18	0	1	0
chr19	42271989	42271989	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.G206A:p.R69Q,CIC:NM_001379480:exon2:c.G206A:p.R69Q,CIC:NM_001379482:exon2:c.G206A:p.R69Q	.	381	1087	50	4	0	58	0.0259857	.	.	.	2752947	Intellectual_disability,_autosomal_dominant_45|CIC-related_disorder	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0	0	.	.	0	0	.	.	0.0036115	94	26028	rs188464728	0.0030	0.0019	0.0030	0.0029	0.0244	0.0028	0.0027	0.0178	0.0155	0.0007	0.0035	0.0050	0.0001	0.0013	0.0244	0.0030	0.0032	0.0187	0.0026	0.0026	0.0025	0.0028	0.0201	0.0024	0.0023	0.0168	0.0156	0.0004	0	0.0036	0.0026	0.0010	0.0008	0.0136	0.0029	0.0038	0.0201	.	.	.	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-5.0	0.98525	D	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0054611266	0.00120	T	.	.	.	.	.	.	.	0.58454684225	0.58127	.	.	.	.	.	.	.	0.003292	0.31165	T	-0.326754	0.06361	T	-0.247063	0.50106	T	.	.	.	0.541546	0.26514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.	.;.	0.516583	0.08853	5.633	0.80446239995739754	0.13207	0.31796	0.24427	N	AEFBCI	0.051563	0.09122	N	.	.	.	.	.	.	0.999988671698017	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	-5.5	0.02373	-0.685000	0.05269	-1.411000	0.05502	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.425000	0.27339	0.5491:0.1939:0.2569:0.0	6.592	0.21847	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1598.83	35	chr19	42271989	.	G	A	1598.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.85;DP=693;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=-0.373;SOR=0.688	GT:AD:DP:GQ:PL	0/1:18,27:45:99:822,0,448	17	0	2	0
chr19	42356932	42356932	G	A	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon26:c.G4580A:p.R1527H,MEGF8:NM_001271938:exon27:c.G4781A:p.R1594H	Carpenter syndrome 2, Autosomal recessive	427	1070	24	1	0	26	0.0120037	.	.	.	689093	not_provided|MEGF8-related_Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0005	0.00159744	0.0026	0.0001	0.0013	0.0002	0	0.0011	0.0017	0.0134	0.0016947	262	154602	rs141153248	0.0012	0.0012	0.0009	0.0016	0.0105	0.0012	0.0012	0.0099	0.0097	0.0002	0.0007	0.0013	2.524e-05	3.767e-05	0.0056	0.0006	0.0018	0.0105	0.0008	0.0008	0.0008	0.0008	0.0089	0.0007	0.0006	0.0068	0.0061	0.0002	0	0.0007	0.0009	0.0002	9.413e-05	0.0034	0.0007	0.0019	0.0089	0.143	0.29823	T	0.084	0.41239	T	0.983	0.68779	D	0.674	0.53247	P	0.187750	0.16930	N	0.566253	0.972712	0.25586	N	0.345	0.11182	N	0.02	0.62318	T	-1.41	0.35399	N	0.376	0.41853	-0.8539	0.51696	T	0.170	0.51085	T	10	0.009688765	0.00218	T	.	.	.	0.256	0.56694	.	.	0.279809986126	0.27602	0.32000660293560446	0.31913	1.05125465116	0.76159	0.461723268032	0.33547	T	0.090227	0.38540	T	-0.399944	0.02317	T	-0.337873	0.40585	T	0.0136652380643093	0.00254	T	0.674133	0.28269	T	0.034723204	0.03952	0.032070026	0.01886	0.031214708	0.02919	0.037747607	0.03493	-6.967	0.53792	T	.	.	0.095	0.15025	B	.;.	.;.	3.787117	0.54485	23.5	0.99895656136967415	0.96895	0.64004	0.32268	D	AEFBI	0.109442	0.21737	N	0.0566823352534436	0.44451	2.718874	0.107243054330615	0.44917	2.764371	0.0408702364229687	0.14459	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	4.29	0.50359	2.516000	0.45181	3.993000	0.41005	-0.106000	0.15538	0.902000	0.31475	1.000000	0.68203	0.981000	0.58702	0.1697:0.1602:0.6701:0.0	5.825	0.17806	551	0.72115	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010595	0.000000	0.005435	0.005848	0.000000	0.008621	0.033951	0.011364	0.02632	1026.33	35	chr19	42356932	.	G	A	1026.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.642;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.653;SOR=0.696	GT:AD:DP:GQ:PL	0/1:35,42:77:99:1040,0,857	18	0	1	0
chr19	43026329	43026329	C	G	exonic	PSG11	.	nonsynonymous SNV	PSG11:NM_001113410:exon1:c.G44C:p.W15S,PSG11:NM_002785:exon1:c.G44C:p.W15S,PSG11:NM_203287:exon1:c.G44C:p.W15S	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.000816253472572	.	.	.	.	.	.	.	.	.	.	.	.	.	rs149116740	8.22e-06	8.893e-06	6.815e-06	9.639e-06	0.0009	4.38e-06	3.46e-06	0.0003	0.0002	0	0	0	0	0	0.0009	9.002e-07	1.66e-05	5.806e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.78490	D	0.194	0.61642	T	0.999	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	3.185	0.88900	M	2.23	0.38718	T	-0.73	0.98332	N	0.428	0.46742	-0.9157	0.46129	T	0.214	0.57534	T	9	0.38776675	0.54667	T	8.16E-4	0.00649	T	0.071	0.20720	0.742	0.87401	0.441221003447	0.43743	0.0603956120746964	0.05979	.	.	.	.	.	0.087349	0.37923	T	-0.212501	0.19028	T	-0.361492	0.37880	T	0.390874421669296	0.28597	T	0.764224	0.39120	T	0.22203362	0.44794	0.24694814	0.50214	0.22203362	0.44794	0.24694814	0.50213	-1.767	0.54471	T	.	.	0.346	0.56298	A	.;.;.;.	.;.;.;.	1.567589	0.20075	14.58	0.8356210495661256	0.14794	0.01631	0.05259	N	AEFI	0.048662	0.08327	N	-0.299711144775219	0.29161	1.614608	-0.629634829374568	0.18733	1.002058	6.65645774153499E-5	0.04366	0.487112	0.14033	0	0.547309	0.14657	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	0.929	0.929	0.18575	0.590000	0.23655	0.508000	0.19055	0.429000	0.20894	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	5.209	0.14627	710	0.56735	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3411.33	33	chr19	43026329	.	C	G	3411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.608;DP=1869;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.52;MQRankSum=-4.644;QD=15.79;ReadPosRankSum=1.01;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,92:216:99:0|1:43026321_G_C:3425,0,4711:43026321	18	0	1	0
chr19	43071912	43071912	T	C	exonic	PSG2	.	nonsynonymous SNV	PSG2:NM_031246:exon4:c.A752G:p.Y251C	.	9	1510	3	0	0	3	0.000992392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.000739667134836	.	0.000199681	0.0004	0	8.639e-05	0	0	1.499e-05	0	0.0029	0.0003299	51	154602	rs568375117	0.0002	0.0002	8.99e-05	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0007	9.898e-06	0.0003	0.0027	0.0002	0.0002	7.742e-05	0.0003	0.0058	0.0001	0.0001	0.0042	0.0036	0	0	6.556e-05	0	0	0	0	1.472e-05	0.0005	0.0058	0.011	0.55530	D	0.002	0.79402	D	0.988	0.62325	D	0.961	0.70482	D	.	.	.	.	1	0.08975	N	3.135	0.88152	M	2.65	0.12676	T	-7.06	0.93879	D	0.412	0.45237	-1.0471	0.15217	T	0.113	0.40261	T	9	0.013878465	0.00293	T	7.4E-4	0.00510	T	0.070	0.20419	0.35	0.34760	0.355242300401	0.35136	0.11384317265024081	0.11312	0.0397869265571	0.04249	0.441308796406	0.30756	T	0.022733	0.17472	T	-0.4756	0.00785	T	-0.460558	0.26537	T	0.237919435971134	0.22323	T	0.980535	0.93361	D	0.49859527	0.67013	0.40917033	0.65213	0.49859527	0.67014	0.40917033	0.65213	-7.658	0.58715	D	.	.	0.306	0.53456	B	.	.	2.009051	0.25529	16.79	0.96252811585674669	0.29189	0.00872	0.03453	N	AEFI	0.050618	0.08864	N	-0.164976878530283	0.34600	1.976857	-0.528779799928602	0.21373	1.155889	3.13228794414333E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.26	1.26	0.20534	0.981000	0.29124	.	.	0.341000	0.19778	0.002000	0.15269	0.010000	0.20010	0.001000	0.02609	0.0:0.0:0.0:1.0	4.625	0.11860	726	0.54788	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001064	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3848.33	34	chr19	43071912	.	T	C	3848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=965;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.98;SOR=0.671	GT:AD:DP:GQ:PL	0/1:134,143:277:99:3862,0,3499	18	0	1	0
chr19	43996525	43996525	A	T	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A668T:p.Q223L,ZNF155:NM_001260487:exon5:c.A668T:p.Q223L,ZNF155:NM_003445:exon5:c.A668T:p.Q223L,ZNF155:NM_198089:exon5:c.A668T:p.Q223L,ZNF155:NM_001260488:exon6:c.A701T:p.Q234L	.	419	1050	49	4	0	57	0.0264256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0049	0.00519169	0.0063	0.0062	0.0062	0	0.0003	0.0047	0.0044	0.0184	0.0056209	869	154602	rs62640893	0.0041	0.0041	0.0035	0.0047	0.0199	0.0040	0.0040	0.0191	0.0188	0.0064	0.0055	0.0411	2.519e-05	0.0003	0.0160	0.0020	0.0066	0.0199	0.0053	0.0053	0.0050	0.0057	0.0168	0.0050	0.0049	0.0138	0.0127	0.0074	0	0.0084	0.0374	0	9.411e-05	0.0136	0.0021	0.0066	0.0168	0.084	0.32929	T	0.087	0.41742	T	0.981	0.59675	D	0.905	0.64260	P	.	.	.	.	0.997188	0.22759	N	0.18	0.09070	N	3.42	0.05507	T	-4.18	0.75615	D	0.116	0.13769	-1.0267	0.21527	T	0.039	0.16849	T	9	0.004463047	0.00092	T	.	.	.	0.030	0.07022	.	.	0.31077124679	0.30691	0.030600505512641492	0.03009	0.0959658060652	0.10830	0.27735710144	0.07127	T	0.042552	0.26220	T	-0.615684	0.00117	T	-0.642884	0.09460	T	0.051471745858201	0.05757	T	0.20468	0.02388	T	0.06652734	0.14321	0.08079469	0.18306	0.06652734	0.14321	0.08079469	0.18306	-5.602	0.42810	T	.	.	0.177	0.42375	B	.;.;.;.	.;.;.;.	1.051754	0.14328	10.91	0.99437527373424284	0.64571	0.11856	0.16905	N	AEFBI	0.057234	0.10646	N	-0.680687512903077	0.16572	0.8455478	-0.791843044207809	0.14695	0.7691477	0.00535347471497114	0.10912	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	2.59	1.48	0.21900	0.053000	0.14067	.	.	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7917:0.0:0.0:0.2083	6.836	0.23118	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|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	0.020141	0.030303	0.019022	0.017544	0.000000	0.000000	0.012195	0.022727	0.02632	4863.33	242	chr19	43996525	.	A	T	4863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.619;DP=4276;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.486;SOR=0.645	GT:AD:DP:GQ:PL	0/1:170,180:350:99:4877,0,4881	18	0	1	0
chr19	44274298	44274298	-	CAC	exonic	ZNF233	.	nonframeshift insertion	ZNF233:NM_001207005:exon5:c.1638_1639insCAC:p.S546_Q547insH,ZNF233:NM_181756:exon5:c.1638_1639insCAC:p.S546_Q547insH	.	417	1086	18	1	0	20	0.00912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0005	9.612e-05	0.0003	0	0	0.0003	0.0011	0.0017	0.0003558	55	154602	rs747608327	0.0004	0.0004	0.0003	0.0004	0.0045	0.0004	0.0003	0.0032	0.0027	2.987e-05	0.0004	3.826e-05	0	0	0.0045	0.0003	0.0005	0.0021	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	2.418e-05	0	0.0007	0	0	0	0	0.0002	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.011364	0.02632	2666.29	44	chr19	44274298	.	T	TCAC	2666.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.966;DP=1419;ExcessHet=0;FS=0.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=-0.324;SOR=0.622	GT:AD:DP:GQ:PL	0/1:72,69:141:99:2680,0,2816	18	0	1	0
chr19	44386528	44386528	G	A	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.C1252T:p.R418C,ZNF285:NM_001291489:exon4:c.C1717T:p.R573C,ZNF285:NM_152354:exon4:c.C1717T:p.R573C,ZNF285:NM_001291488:exon5:c.C1738T:p.R580C,ZNF285:NM_001291490:exon5:c.C1252T:p.R418C	.	424	1094	4	0	0	4	0.00182482	.	.	.	3927205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.075	0.00553293248762	.	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs762533427	4.447e-05	4.446e-05	4.492e-05	4.401e-05	9.275e-05	3.575e-05	3.257e-05	4.579e-05	3.272e-05	0	0	0.0004	0	0	0	4.047e-05	1.656e-05	9.275e-05	3.287e-05	3.284e-05	5.141e-05	1.346e-05	2.94e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0.0009	0	0	0	2.94e-05	0	0	.	.	.	0.24	0.25987	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.27	0.06681	T	.	.	.	0.061	0.05162	-0.9353	0.43349	T	0.005	0.01506	T	9	0.0349077	0.01716	T	0.005533	0.14258	T	0.075	0.21907	0.656	0.79379	0.0762999501168	0.06990	0.04745918492607144	0.04688	.	.	.	.	.	.	.	.	-0.326008	0.06418	T	-0.706064	0.05500	T	0.0501580235547612	0.05529	T	0.814619	0.46840	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.28948	B	.;.;.	.;.;.	0.231312	0.06126	2.571	0.87741396087588208	0.17447	0.00710	0.03005	N	AEFDGBI	0.044909	0.07283	N	-1.64974870757639	0.01036	0.04494271	-1.64116925739784	0.01422	0.064306	0.00106402162721192	0.08183	0.615465	0.37627	0	0.588015	0.36545	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	2.85	-3.72	0.04125	0.044000	0.13876	.	.	-0.203000	0.08628	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.6193:0.1671:0.2136:0.0	5.544	0.16340	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1538.33	34	chr19	44386528	.	G	A	1538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=795;ExcessHet=0;FS=4.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.38;MQRankSum=-6.126;QD=12.82;ReadPosRankSum=-0.477;SOR=1.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,43:120:99:0|1:44386528_G_A:1552,0,3043:44386528	18	0	1	0
chr19	44387826	44387826	C	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291489:exon4:c.G419A:p.S140N,ZNF285:NM_152354:exon4:c.G419A:p.S140N,ZNF285:NM_001291488:exon5:c.G440A:p.S147N	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00162200480868	0.0017	0.000399361	0.0017	0.0003	0.0004	0	0.0008	0.0019	0.0033	0.0037	0.001533	237	154602	rs145772874	0.0021	0.0021	0.0020	0.0022	0.0042	0.0020	0.0020	0.0038	0.0037	0.0004	0.0009	0.0006	0	0.0005	0.0014	0.0022	0.0019	0.0042	0.0013	0.0013	0.0016	0.0010	0.0031	0.0012	0.0011	0.0019	0.0018	0.0006	0	0.0005	0.0009	0	9.418e-05	0.0034	0.0022	0.0005	0.0031	.	.	.	0.384	0.15794	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	3.3	0.06368	T	.	.	.	0.027	0.00825	-0.9260	0.44716	T	0.008	0.02884	T	9	0.0063569546	0.00144	T	0.001622	0.02625	T	0.007	0.00512	.	.	0.0920862733494	0.08535	0.026591702296234615	0.02609	.	.	.	.	.	.	.	.	-0.43661	0.01354	T	-0.864936	0.00792	T	0.00521157561700847	0.00056	T	0.390761	0.09705	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.42621	B	.;.;.	.;.;.	0.104551	0.05055	1.597	0.63873918398900009	0.07340	0.01548	0.05077	N	AEFGBI	0.031117	0.03262	N	-1.38381201936725	0.02789	0.1236745	-1.43214058081393	0.02935	0.1360007	3.41997361063324E-5	0.03775	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.528226	0.09195	0	.	.	1.78	-0.495	0.11430	-2.760000	0.00856	.	.	-0.271000	0.06739	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.4768:0.3628:0.0:0.1603	2.891	0.05328	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000558	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003906	0.02632	2795.33	34	chr19	44387826	.	C	T	2795.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.934;DP=1004;ExcessHet=0;FS=0.535;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.84;MQRankSum=-0.072;QD=14.95;ReadPosRankSum=-0.92;SOR=0.743	GT:AD:DP:GQ:PL	0/1:90,97:187:99:2809,0,2538	18	0	1	0
chr19	44442846	44442846	A	G	exonic	ZNF229	.	startloss	ZNF229:NM_001278510:exon3:c.T2C:p.M1?,ZNF229:NM_014518:exon3:c.T2C:p.M1?	.	420	1082	19	1	0	21	0.00961098	.	.	.	2808879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.187	0.00910938250367	8.3e-05	0.000599042	0.0014	0.0002	0.0003	0	0	0.0004	0.0033	0.0081	0.0011255	174	154602	rs199644935	0.0007	0.0007	0.0004	0.0010	0.0092	0.0007	0.0007	0.0087	0.0085	0	0.0002	3.826e-05	0	1.876e-05	0.0050	0.0001	0.0009	0.0092	0.0004	0.0004	0.0002	0.0006	0.0085	0.0003	0.0003	0.0064	0.0056	0.0001	0	0.0002	0	0	0	0.0041	0.0001	0.0005	0.0085	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.537	0.56489	-1.0276	0.21233	T	0.018	0.07376	T	8	0.007427484	0.00169	T	0.009109	0.23965	T	.	.	.	.	0.270001397563	0.26616	0.10640469330074703	0.10570	.	.	.	.	.	.	.	.	-0.21419	0.18794	T	-0.0734809	0.65376	T	0.011461238529386	0.00172	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.795269	0.22820	15.77	0.7881897504870653	0.12466	0.00222	0.01252	N	AEFBI	0.008562	0.00041	N	-0.837210483319705	0.12366	0.6023815	-0.936819549496422	0.11230	0.5708343	1.39687111254852E-4	0.05486	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	2.67	1.61	0.22752	1.917000	0.39626	.	.	0.587000	0.30956	0.805000	0.29786	0.372000	0.24573	0.179000	0.21265	0.8457:0.0:0.1543:0.0	4.735	0.12360	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	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05263	3059.83	71	chr19	44442846	.	A	G	3059.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.41;DP=914;ExcessHet=0.119;FS=4.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.66;SOR=0.964	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1681,0,1716	17	0	2	0
chr19	44878390	44878390	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_002856:exon6:c.G1210A:p.D404N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0463192631864	.	0.000199681	0.0001	0	0	0	0	9.602e-05	0	0.0002	3.88e-05	6	154602	rs538246369	5.478e-05	5.678e-05	3.653e-05	7.35e-05	0.0002	4.448e-05	4.11e-05	0.0001	0.0001	0	5.566e-05	0	0	0	0.0002	5.176e-05	1.713e-05	0.0002	6.575e-06	6.563e-06	0	1.345e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.879	0.02550	T	1.0	0.01155	T	0.431	0.35606	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	.	.	.	0.08	0.61559	T	0.83	0.01787	N	0.152	0.15609	-1.0414	0.16890	T	0.075	0.30303	T	9	0.025588304	0.00748	T	0.046319	0.62400	D	0.037	0.09474	.	.	0.43068463968	0.42687	.	.	.	.	.	.	.	.	.	.	-0.524973	0.00411	T	-0.677606	0.07131	T	0.0134074353558984	0.00243	T	0.446455	0.12522	T	.	.	.	.	.	.	.	.	-4.596	0.32121	T	.	.	0.087	0.11124	B	.	.	0.612839	0.09813	6.577	0.44221108137943765	0.03384	0.05806	0.11743	N	AEFDBHI	0.057132	0.10617	N	-1.21189859305094	0.04826	0.2186455	-1.29770030131503	0.04462	0.2105159	0.997836023911935	0.36087	0.706548	0.73137	0	0.588015	0.36545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.61	-4.59	0.03158	-0.035000	0.12156	.	.	-0.251000	0.07141	0.000000	0.06391	0.394000	0.24678	0.021000	0.11733	0.4419:0.2619:0.2961:0.0	5.323	0.15197	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1227.33	33	chr19	44878390	.	G	A	1227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=760;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.395;SOR=0.892	GT:AD:DP:GQ:PL	0/1:38,42:80:99:1241,0,970	18	0	1	0
chr19	45012268	45012268	G	A	exonic	RELB	.	unknown	UNKNOWN	.	432	1087	3	0	0	3	0.00137804	.	.	.	1540890	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.159	0.0298161269458	.	0.000199681	0.0002	0	0.0001	0	0	0.0002	0	0.0005	0.0001164	18	154602	rs200472617	0.0001	0.0002	0.0001	0.0001	0.0016	0.0001	0.0001	0.0007	0.0005	0.0002	5.538e-05	0.0032	0	0	0.0016	5.772e-05	0.0002	0.0004	0.0002	0.0002	0.0002	9.408e-05	0.0001	0.0001	8.72e-05	4.767e-05	3.341e-05	0	0	0.0001	0.0032	0	0	0.0034	0.0001	0.0009	0	1.0	0.00964	T	1.0	0.01155	T	0.215	0.30128	B	0.023	0.19966	B	0.004873	0.33312	N	0.237664	0.999995	0.58761	D	-0.6	0.02229	N	1.08	0.39401	T	-0.02	0.07299	N	0.189	0.20793	-1.0395	0.17465	T	0.035	0.15160	T	10	0.011591613	0.00253	T	0.029816	0.52254	D	0.159	0.41286	.	.	0.535170796658	0.53167	0.6394812858940292	0.63883	0.589527723928	0.54450	0.790903270245	0.80581	T	0.120778	0.44326	T	-0.366519	0.03774	T	-0.44229	0.28552	T	0.0421848628482377	0.04088	T	0.822018	0.48145	T	0.057123624	0.11327	0.071926065	0.15459	0.057123624	0.11327	0.071926065	0.15459	-0.627	0.00667	T	.	.	0.193	0.42506	B	.;.;.	.;.;.	2.678049	0.34927	19.76	0.70212321192546201	0.09222	0.29257	0.23774	N	AEFDBHCI	0.133271	0.25288	N	-0.687591467125662	0.16374	0.8336832	-0.509554323098256	0.21894	1.186543	0.854002464587328	0.25097	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.16	4.16	0.48138	-0.210000	0.09349	.	.	-0.265000	0.06832	0.000000	0.06391	1.000000	0.68203	0.883000	0.42306	0.0:0.0:1.0:0.0	13.987	0.63858	883	0.28872	Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain	.	.	.	.	.	Likely benign	0	0	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	0.004077	0.000000	0.008174	0.002924	0.000000	0.008772	0.000000	0.003817	0.02632	232.33	32	chr19	45012268	.	G	A	232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.637;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.6;ReadPosRankSum=-1.409;SOR=0.591	GT:AD:DP:GQ:PL	0/1:3,11:14:63:246,0,63	18	0	1	0
chr19	45766941	45766941	C	T	exonic	SIX5	.	nonsynonymous SNV	SIX5:NM_175875:exon2:c.G1018A:p.G340R	Branchiootorenal syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.433820689557	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768789921	2.11e-06	4.104e-06	2.788e-06	1.42e-06	3.076e-05	5.6e-07	1.6e-07	3e-07	1.1e-07	3.076e-05	0	0	0	0	0	1.828e-06	0	0	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	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.901	0.63994	P	0.001994	0.37503	N	0.179187	0.996629	0.81001	D	0.805	0.20218	L	-4.12	0.96716	D	-2.21	0.49684	N	0.926	0.93018	0.721	0.93436	D	0.846	0.94853	D	10	0.7137333	0.73210	D	0.433821	0.94033	D	0.615	0.84986	0.53	0.63707	0.904981934743	0.90403	0.8218088457578865	0.82137	0.327390356047	0.34875	0.766449511051	0.76892	T	0.387173	0.74815	T	0.185589	0.72557	D	0.028809	0.72201	D	0.733397085840166	0.42386	D	0.844715	0.52235	T	0.21282837	0.43646	0.33681035	0.59479	0.21282837	0.43646	0.33681035	0.59478	-9.36	0.69984	D	0.6858599572735534	0.76290	0.667	0.71623	P	.;.	.;.	4.706289	0.75561	26.4	0.99871512549117014	0.94902	0.78268	0.38589	D	AEFDBCI	0.432529	0.49437	N	0.199127602972168	0.51158	3.299246	0.11523986011299	0.45327	2.797854	0.999992057147127	0.74766	0.766844	0.99359	0	0.633656	0.55848	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	4.51	2.36	0.28258	2.525000	0.45258	5.954000	0.51702	0.599000	0.40250	0.805000	0.29786	1.000000	0.68203	0.421000	0.27250	0.0:0.7945:0.0:0.2055	8.001	0.29456	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	902.33	34	chr19	45766941	.	C	T	902.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=729;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-2.13;SOR=0.702	GT:AD:DP:GQ:PL	0/1:35,33:68:99:916,0,778	18	0	1	0
chr19	46148279	46148279	A	G	exonic	IGFL2	.	startloss	IGFL2:NM_001135113:exon1:c.A1G:p.M1V	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	.	0.0009	0.00359425	0.0060	0.0005	0	0.0016	0	0.0006	0.0052	0.0140	0.0011125	172	154602	rs377089398	0.0012	0.0012	0.0009	0.0016	0.0120	0.0012	0.0012	0.0114	0.0112	9.496e-05	0.0008	7.943e-05	2.798e-05	0	0.0086	0.0006	0.0014	0.0120	0.0008	0.0008	0.0006	0.0011	0.0118	0.0007	0.0007	0.0094	0.0085	7.217e-05	0	0.0010	0	0	0	0.0170	0.0007	0.0014	0.0118	0.016	0.51853	D	0.04	0.50809	D	0.112	0.26290	B	0.028	0.21332	B	.	.	.	.	1	0.81001	D	.	.	.	1.92	0.23082	T	-2.11	0.48020	N	0.541	0.56833	-1.0141	0.25625	T	0.040	0.17319	T	8	0.007847816	0.00178	T	.	.	.	0.178	0.44724	.	.	0.165133752707	0.16062	.	.	.	.	.	.	.	0.193664	0.54920	T	-0.338231	0.05511	T	-0.246946	0.50118	T	0.00363277649447092	0.00038	T	0.9	0.65058	D	0.29324874	0.52293	0.230962	0.48214	0.29324874	0.52293	0.230962	0.48213	-8.89	0.66985	D	.	.	.	.	.	.	.	0.057319	0.04691	1.334	0.81539203245492109	0.13735	0.01646	0.05293	N	AEFBCI	0.013246	0.00170	N	-0.88481743698973	0.11203	0.5393797	-1.01601279641689	0.09433	0.46928	0.388677172421423	0.20026	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.983	0.983	0.18886	-0.268000	0.08637	0.415000	0.18155	0.483000	0.22176	0.046000	0.21249	0.000000	0.08366	0.024000	0.12247	1.0:0.0:0.0:0.0	4.179	0.09826	739	0.53257	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010148	0.005882	0.003448	0.003906	0.000000	0.000000	0.010417	0.000000	0.02632	1166.33	39	chr19	46148279	.	A	G	1166.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.859;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-0.323;SOR=0.675	GT:AD:DP:GQ:PL	0/1:79,55:134:99:1180,0,1976	18	0	1	0
chr19	46160724	46160724	G	A	exonic	IGFL2	.	nonsynonymous SNV	IGFL2:NM_001135113:exon3:c.G184A:p.E62K,IGFL2:NM_001002915:exon4:c.G217A:p.E73K	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00359425	0.0021	0.0006	0.0007	0.0001	0	0.0007	0.0022	0.0118	0.0019663	304	154602	rs201027157	0.0012	0.0012	0.0008	0.0016	0.0118	0.0012	0.0011	0.0112	0.0110	0.0002	0.0008	7.652e-05	2.519e-05	3.745e-05	0.0085	0.0005	0.0015	0.0118	0.0009	0.0009	0.0007	0.0011	0.0118	0.0007	0.0007	0.0094	0.0085	0.0002	0	0.0009	0	0	0	0.0170	0.0006	0.0014	0.0118	0.138	0.25873	T	0.277	0.25210	T	0.038	0.24734	B	0.01	0.16862	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.24	0.17923	T	1.16	0.01136	N	0.27	0.30574	-1.0120	0.26291	T	0.020	0.08500	T	9	0.004786551	0.00101	T	.	.	.	0.015	0.02232	.	.	0.238096912614	0.23440	0.14811119383218502	0.14733	0.112610028848	0.12714	0.330738186836	0.15047	T	0.026954	0.19841	T	-0.697505	0.00038	T	-0.763663	0.02983	T	0.00347277769120586	0.00037	T	0.278472	0.04815	T	0.022081917	0.00848	0.040212702	0.04292	0.022081917	0.00848	0.040212702	0.04292	-3.622	0.18466	T	.	.	0.092	0.13503	B	.;.;.	.;.;.	-0.599967	0.01572	0.104	0.53376249297463041	0.04928	0.00107	0.00683	N	AEFBI	0.020659	0.00838	N	-1.95927417860576	0.00258	0.01108373	-2.07184237032582	0.00215	0.009451749	0.944152209158982	0.27602	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.83	-5.65	0.02262	-2.833000	0.00811	-5.104000	0.01848	-1.937000	0.00494	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4761:0.1637:0.3601:0.0	7.865	0.28693	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.005051	0.006793	0.014620	0.000000	0.008621	0.015244	0.003788	0.02632	5119.33	34	chr19	46160724	.	G	A	5119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.362;DP=925;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.1;ReadPosRankSum=0.512;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,132:268:99:0|1:46160724_G_A:5133,0,5238:46160724	18	0	1	0
chr19	46160730	46160730	C	T	exonic	IGFL2	.	nonsynonymous SNV	IGFL2:NM_001135113:exon3:c.C190T:p.R64C,IGFL2:NM_001002915:exon4:c.C223T:p.R75C	.	428	1070	23	1	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0007	0.00359425	0.0021	0.0005	0.0007	0.0002	0	0.0007	0.0022	0.0119	0.0020246	313	154602	rs199636519	0.0012	0.0012	0.0009	0.0016	0.0118	0.0012	0.0012	0.0112	0.0109	0.0001	0.0008	7.652e-05	0.0001	0	0.0085	0.0005	0.0015	0.0118	0.0008	0.0008	0.0006	0.0011	0.0118	0.0007	0.0007	0.0094	0.0085	9.63e-05	0	0.0009	0	0	0	0.0170	0.0006	0.0014	0.0118	0.001	0.78490	D	0.004	0.76473	D	0.882	0.54283	P	0.301	0.46205	B	.	.	.	.	1	0.08975	N	2.14	0.59869	M	1.66	0.27486	T	-5.98	0.89334	D	0.273	0.34336	-1.0295	0.20616	T	0.058	0.24204	T	9	0.004361242	0.00089	T	.	.	.	0.035	0.08770	.	.	0.595925879249	0.59271	0.21012800093907438	0.20928	0.374927165601	0.38949	0.334838867188	0.15664	T	0.160996	0.50507	T	-0.564498	0.00238	T	-0.572607	0.15212	T	0.0931095369972305	0.11582	T	0.49655	0.15423	T	0.286598	0.51674	0.20106022	0.44068	0.286598	0.51674	0.20106022	0.44067	-5.413	0.41044	T	.	.	0.387	0.58837	A	.;.;.	.;.;.	1.855034	0.23566	16.07	0.99522749598536786	0.69346	0.00524	0.02436	N	AEFBI	0.063848	0.12364	N	-0.680622098261086	0.16575	0.8456621	-0.895101077511471	0.12210	0.6267108	0.0149226054994261	0.12654	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.83	-1.06	0.09491	-0.071000	0.11465	-1.692000	0.04905	0.445000	0.21165	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6437:0.3563:0.0:0.0	8.339	0.31396	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.005051	0.006793	0.014620	0.000000	0.008621	0.015244	0.003788	0.02632	5187.33	34	chr19	46160730	.	C	T	5187.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=926;ExcessHet=0;FS=0.442;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.14;ReadPosRankSum=0.827;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,134:271:99:0|1:46160724_G_A:5201,0,5271:46160724	18	0	1	0
chr19	46755970	46755970	A	T	exonic	FKRP	.	nonsynonymous SNV	FKRP:NM_001039885:exon4:c.A520T:p.S174C,FKRP:NM_024301:exon4:c.A520T:p.S174C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	102004	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A5|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A1|Muscular_dystrophy-dystroglycanopathy_type_B5|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2I|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_provided	MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,Orphanet:588,Orphanet:899|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,Orphanet:588,Orphanet:899|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612,Orphanet:52428|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orphanet:34515|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orphanet:899|MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.614	.	0.0006	0.00579073	0.0118	0.0027	0	0	0	0.0058	0	0.0161	0.002044	316	154602	rs200990647	0.0023	0.0023	0.0020	0.0027	0.0144	0.0022	0.0022	0.0138	0.0135	0.0002	0.0006	0.0010	0.0011	0.0002	0.0007	0.0017	0.0026	0.0144	0.0015	0.0015	0.0013	0.0017	0.0190	0.0014	0.0013	0.0159	0.0147	0.0004	0	0.0008	0.0012	0.0021	0.0002	0	0.0014	0	0.0190	0.02	0.49613	D	0.005	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.000094	0.51296	D	0.170964	0.902163	0.36198	D	0.345	0.11182	N	-6.08	0.99517	D	-2.6	0.55983	D	0.491	0.74280	0.786	0.94236	D	0.895	0.96512	D	10	0.009832382	0.00221	T	.	.	.	0.614	0.84932	.	.	0.839388427273	0.83785	0.7137535700374018	0.71318	1.29733811053	0.82933	0.929733991623	0.98973	D	0.527196	0.83572	D	-0.0854319	0.38827	T	0.116183	0.77981	D	0.0284877121389715	0.01759	T	0.807619	0.45757	T	0.49096623	0.66561	0.2004119	0.43971	0.559256	0.70470	0.28949234	0.54969	-6.403	0.49533	T	0.446524041138075	0.53109	0.675	0.72091	P	.;.;.	.;.;.	3.434349	0.47750	22.5	0.98427601384636587	0.41354	0.88752	0.48831	D	AEFDBI	0.400106	0.47512	N	-0.434184271767077	0.24279	1.309852	-0.308591873975597	0.27819	1.54648	0.998100821236895	0.36433	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.669	0.65921	0	.	.	4.55	3.52	0.39415	1.737000	0.37821	8.870000	0.78330	0.658000	0.54486	0.962000	0.33725	1.000000	0.68203	0.617000	0.31819	0.6732:0.0:0.0:0.3268	8.011	0.29516	934	0.15400	.;.;.	.	.	.	.	.	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	0.001556	0.000000	0.001374	0.000000	0.000000	0.000000	0.003205	0.003906	0.02632	1485.33	43	chr19	46755970	.	A	T	1485.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.668;DP=858;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-1.367;SOR=0.849	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1499,0,1964	18	0	1	0
chr19	49653077	49653077	G	C	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G2688C:p.K896N	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0296879997583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.265	0.22694	T	0.978	0.58756	D	0.647	0.52336	P	0.003356	0.35069	N	0.000000	0.848663	0.35185	D	0.895	0.22405	L	1.15	0.38236	T	-1.69	0.40274	N	0.362	0.40364	-1.0313	0.20034	T	0.070	0.28577	T	9	0.24888569	0.42192	T	0.029688	0.52149	D	0.072	0.21020	0.185	0.09388	0.0675242888579	0.06100	0.22913516829429736	0.22828	0.742370381414	0.63329	0.731953144073	0.71791	T	0.069297	0.33673	T	-0.226398	0.17128	T	-0.562981	0.16099	T	0.466988290239392	0.31421	T	0.607939	0.22935	T	0.21711297	0.44186	0.20557289	0.44732	0.21711297	0.44186	0.20557289	0.44731	-7.367	0.56671	T	.	.	0.922	0.84365	P	.	.	3.653349	0.51862	23.2	0.98829145662808338	0.46919	0.79009	0.39072	D	AEFDGBCI	0.229511	0.35302	N	-0.0709126542114252	0.38672	2.268598	-0.120112196207766	0.34580	1.990725	0.770417298348585	0.23662	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.98	1.82	0.24209	1.536000	0.35678	5.629000	0.49110	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	1.000000	0.97212	0.2865:0.0:0.7135:0.0	7.604	0.27260	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	.	.	.	.	.	.	.	.	0.02632	1980.33	35	chr19	49653077	.	G	C	1980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.263;DP=855;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.18;SOR=0.673	GT:AD:DP:GQ:PL	0/1:114,80:194:99:1994,0,3051	18	0	1	0
chr19	50459235	50459235	C	A	exonic	MYBPC2	.	nonsynonymous SNV	MYBPC2:NM_004533:exon23:c.C2720A:p.S907Y	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.479485816364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371685376	1.37e-06	2.736e-06	0	2.754e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.005902	0.32413	U	0.000000	0.999565	0.47592	D	3.665	0.94315	H	-0.42	0.69536	T	-5.34	0.84674	D	0.8	0.79599	0.513	0.90729	D	0.601	0.85783	D	10	0.8753229	0.86819	D	0.479486	0.94817	D	0.634	0.85975	0.544	0.65731	0.871515061158	0.87026	0.8576798015803253	0.85730	0.709233933603	0.61606	0.858154654503	0.90838	D	0.076533	0.35440	T	0.114594	0.65826	D	-0.0731699	0.65400	T	0.99413001537323	0.85239	D	0.992701	0.97608	D	0.69286644	0.77667	0.790638	0.87685	0.69286644	0.77669	0.790638	0.87686	-11.262	0.81076	D	.	.	0.864	0.80506	P	.	.	4.620996	0.73381	26.0	0.99459485385625368	0.65736	0.95577	0.65277	D	AEFDBHCI	0.734476	0.68059	D	0.818611183482727	0.87256	9.155222	0.678079813945349	0.80719	7.361548	0.999999999102574	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.74	3.74	0.42108	5.838000	0.69097	7.363000	0.58355	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:1.0:0.0:0.0	15.150	0.72373	846	0.36215	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	35	chr19	50459235	.	C	A	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.505;DP=859;ExcessHet=0;FS=3.433;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.832;SOR=0.897	GT:AD:DP:GQ:PL	0/1:96,83:179:99:1927,0,2216	18	0	1	0
chr19	50656074	50656074	C	T	exonic	C19orf81	.	nonsynonymous SNV	C19orf81:NM_001195076:exon2:c.C92T:p.T31I	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00481809345735	.	0.000199681	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs192383921	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	9.855e-05	0.0012	0.0010	9.495e-05	8.403e-05	0.0002	0	0	0.0021	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.277e-05	0.0001	8.877e-05	2.406e-05	0	0.0001	0	0	0	0	0.0002	0	0.0004	0.007	0.59928	D	0.019	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	1.78	0.46185	L	.	.	.	-2.99	0.62151	D	0.072	0.04547	-1.0245	0.22246	T	0.065	0.26843	T	6	0.05042544	0.04773	T	0.004818	0.12066	T	0.039	0.10176	.	.	0.0297737177859	0.01360	0.18105441395669003	0.18024	.	.	.	.	.	0.100204	0.40576	T	-0.28427	0.10220	T	-0.340134	0.40328	T	0.0554668422867816	0.06435	T	0.540746	0.18332	T	0.11198221	0.26460	0.09572169	0.22714	0.11198221	0.26460	0.09572169	0.22713	-3.529	0.16840	T	.	.	0.102	0.17911	B	.;.	.;.	1.194899	0.15865	12.16	0.99284201508037206	0.58008	0.02916	0.07721	N	AEFDGBI	0.031591	0.03409	N	-0.567711737855326	0.19931	1.04699	-0.679714669811884	0.17469	0.9289861	0.00551029541756363	0.10959	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.35	2.13	0.26445	0.166000	0.16400	-0.019000	0.12951	0.584000	0.30380	0.012000	0.18695	0.000000	0.08366	0.205000	0.22041	0.0:0.7048:0.1896:0.1056	6.162	0.19582	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1140.33	33	chr19	50656074	.	C	T	1140.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.206;DP=703;ExcessHet=0;FS=3.973;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=-1.153;SOR=0.288	GT:AD:DP:GQ:PL	0/1:27,43:70:99:1154,0,769	18	0	1	0
chr19	50963514	50963514	C	T	exonic	KLK6	.	nonsynonymous SNV	KLK6:NM_001012964:exon4:c.G233A:p.R78Q,KLK6:NM_002774:exon5:c.G233A:p.R78Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0688856156958	.	.	3.301e-05	0	8.645e-05	0	0	1.503e-05	0	0.0001	3.23e-05	5	154602	rs745929255	1.779e-05	1.779e-05	2.314e-05	1.238e-05	5.974e-05	1.237e-05	1.051e-05	1.012e-05	8.35e-06	5.974e-05	2.236e-05	0	0	0	0	1.619e-05	3.311e-05	3.478e-05	1.973e-05	1.97e-05	2.571e-05	1.346e-05	4.831e-05	5.24e-06	2.46e-06	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.237525	0.15784	N	0.469215	1	0.08975	N	0.765	0.19305	N	-2.4	0.88455	D	0.02	0.06739	N	0.202	0.22357	-0.7776	0.56437	T	0.385	0.74032	T	10	0.055615395	0.06108	T	0.068886	0.70575	D	0.150	0.39571	0.354	0.35408	0.735395247976	0.73303	0.3380756461100835	0.33720	0.246615040871	0.27195	0.210929751396	0.00851	T	0.187937	0.54169	T	-0.201451	0.20596	T	-0.430293	0.29901	T	0.0608807918288779	0.07307	T	0.181682	0.01835	T	0.17336223	0.38079	0.10648354	0.25617	0.17336223	0.38079	0.10648354	0.25616	-3.152	0.11903	T	.	.	0.102	0.18622	B	.;.;.	.;.;.	0.801350	0.11722	8.298	0.63656500004438576	0.07282	0.00626	0.02758	N	AEFBI	0.089465	0.18132	N	-1.17578908805927	0.05367	0.244515	-1.14552899252511	0.06849	0.3310625	1.18136720620877E-5	0.02871	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.54	-0.27	0.12287	-0.573000	0.05966	-2.503000	0.03675	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.922000	0.45779	0.1682:0.5111:0.0:0.3207	4.575	0.11621	912	0.21483	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1418.33	34	chr19	50963514	.	C	T	1418.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.82;DP=718;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.012;SOR=0.848	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1432,0,852	18	0	1	0
chr19	52354323	52354323	A	G	exonic	ZNF610	.	nonsynonymous SNV	ZNF610:NM_001161425:exon5:c.A263G:p.Q88R,ZNF610:NM_001161426:exon5:c.A263G:p.Q88R,ZNF610:NM_173530:exon5:c.A263G:p.Q88R	.	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00259585	0.0013	9.835e-05	0.0003	0.0001	0	1.501e-05	0	0.0092	0.001119	173	154602	rs564330784	0.0006	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	4.472e-05	0	0	0	0.0005	1.799e-06	0.0008	0.0089	0.0003	0.0003	0.0002	0.0005	0.0101	0.0003	0.0002	0.0079	0.0071	0	0	0	0	0	0	0	1.47e-05	0	0.0101	0.377	0.11298	T	0.376	0.16182	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.105	0.08473	N	3.46	0.05249	T	-0.98	0.25986	N	0.039	0.01274	-0.9522	0.40590	T	0.012	0.04795	T	9	0.0052702725	0.00115	T	.	.	.	0.041	0.10877	0.398	0.42590	0.447311733946	0.44353	0.022283420393354177	0.02180	0.157742065919	0.17814	0.239167928696	0.02716	T	0.013662	0.11777	T	-0.682408	0.00046	T	-0.745332	0.03670	T	0.00542289244809195	0.00059	T	0.378962	0.09121	T	0.030873697	0.02826	0.048202086	0.07109	0.030873697	0.02826	0.048202086	0.07108	-5.582	0.42628	T	.	.	0.093	0.14062	B	.;.;.;.	.;.;.;.	-0.212962	0.03024	0.462	0.89893421168661736	0.19195	0.02836	0.07583	N	AEFBI	0.026808	0.02078	N	-1.03241794101532	0.07937	0.370437	-1.11557782071327	0.07402	0.3599191	1.87823081456849E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	1.37	1.37	0.21200	0.715000	0.25493	.	.	-0.142000	0.12367	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.877	0.13021	988	0.01987	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1235.33	33	chr19	52354323	.	A	G	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.933;DP=751;ExcessHet=0;FS=2.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.587;SOR=0.486	GT:AD:DP:GQ:PL	0/1:67,56:123:99:1249,0,1738	18	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3948.52	103	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3948.52	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.913;DP=1172;ExcessHet=6.9875;FS=83.047;InbreedingCoeff=-0.3567;MLEAC=3;MLEAF=0.079;MQ=58.37;MQRankSum=-1.962;QD=6.88;ReadPosRankSum=-1.104;SOR=8.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,19:40:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:734,0,825:52384817	16	0	3	0
chr19	53142167	53142167	A	C	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.T664G:p.S222A,ZNF347:NM_001172675:exon5:c.T664G:p.S222A,ZNF347:NM_032584:exon5:c.T661G:p.S221A	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00373069737982	0.0024	0.00159744	0.0022	0.0002	0.0006	0	0.0003	0.0033	0.0011	0.0018	0.0020051	310	154602	rs150054471	0.0021	0.0022	0.0021	0.0022	0.0114	0.0021	0.0021	0.0092	0.0084	0.0006	0.0011	0.0165	0	0.0002	0.0114	0.0020	0.0032	0.0020	0.0016	0.0016	0.0016	0.0016	0.0020	0.0014	0.0014	0.0018	0.0017	0.0004	0	0.0009	0.0147	0	0.0002	0.0136	0.0020	0.0038	0.0017	0.082	0.33254	T	0.334	0.18340	T	0.158	0.28271	B	0.066	0.27432	B	.	.	.	.	1	0.08975	N	0.635	0.15989	N	3.21	0.07236	T	-2.26	0.50502	N	0.093	0.11769	-0.9214	0.45362	T	0.011	0.04369	T	9	0.0068825185	0.00156	T	0.003731	0.08651	T	0.013	0.01715	.	.	0.231231049324	0.22751	0.0212500144251586	0.02078	0.012742868649	0.01221	0.240050345659	0.02795	T	0.054427	0.29721	T	-0.666017	0.00058	T	-0.734702	0.04118	T	0.00338177271763022	0.00036	T	0.00856581	0.00040	T	0.11399232	0.26916	0.09214802	0.21700	0.11399232	0.26916	0.09214802	0.21700	-4.684	0.33210	T	.	.	0.079	0.07650	B	.;.;.	.;.;.	1.087805	0.14711	11.26	0.92995168697219244	0.22582	0.04342	0.09906	N	AEFBI	0.024031	0.01424	N	-1.17339779680434	0.05405	0.2463305	-1.2191213321586	0.05603	0.26742	3.51835075321682E-4	0.06668	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.45	1.4	0.21393	-0.357000	0.07702	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.8474:0.0:0.1526:0.0	5.199	0.14576	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	0.013595	0.005051	0.010870	0.020468	0.000000	0.051724	0.009146	0.007576	0.02632	1977.33	38	chr19	53142167	.	A	C	1977.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.85;DP=854;ExcessHet=0;FS=2.09;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-1.642;SOR=0.903	GT:AD:DP:GQ:PL	0/1:73,72:145:99:1991,0,1962	18	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.090131	0.111111	0.103261	0.064327	0.050000	0.077586	0.091463	0.087121	0.02632	93.33	87	chr19	53267316	.	G	C	93.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.916;DP=1051;ExcessHet=0;FS=0.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.58;MQRankSum=-8.949;QD=0.48;ReadPosRankSum=-0.224;SOR=0.551	GT:AD:DP:GQ:PL	0/1:167,28:195:99:107,0,5000	18	0	1	0
chr19	53353432	53353433	GT	-	exonic	ZNF845	.	frameshift deletion	ZNF845:NM_138374:exon4:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321522:exon5:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321523:exon5:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321524:exon5:c.2757_2758del:p.C920Wfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0002	0	0.0015	0.0002329	36	154602	rs779634863	0.0001	0.0001	8.441e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	2.237e-05	0.0014	0	0	0.0007	2.248e-05	0.0003	0.0013	9.196e-05	9.187e-05	7.713e-05	0.0001	0.0015	5.526e-05	4.363e-05	0.0007	0.0005	0	0	0	0.0009	0	0	0	4.411e-05	0.0005	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001057	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2215.29	39	chr19	53353431	.	AGT	A	2215.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.674;DP=1019;ExcessHet=0;FS=2.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.91;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.493;SOR=0.95	GT:AD:DP:GQ:PL	0/1:72,59:131:99:2229,0,2787	18	0	1	0
chr19	54463480	54463480	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C47T:p.T16M,LENG9:NM_198988:exon1:c.C113T:p.T38M	.	421	1054	44	3	0	50	0.0231696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	0.0071885	0.0667	0	0	0	.	0.125	0.1667	0.0619	0.0018305	283	154602	rs144782338	0.0074	0.0069	0.0072	0.0076	0.0358	0.0072	0.0072	0.0304	0.0284	0.0019	0.0071	0.0287	0.0015	0.0098	0.0358	0.0068	0.0096	0.0142	0.0060	0.0061	0.0058	0.0063	0.0153	0.0057	0.0056	0.0125	0.0115	0.0012	0	0.0105	0.0308	0.0014	0.0067	0.0377	0.0063	0.0081	0.0153	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	0.043755	0.01924	U	3.158330	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.132	0.12770	-1.0515	0.13981	T	0.018	0.07282	T	10	0.0029560328	0.00048	T	.	.	.	.	.	.	.	.	.	0.2530297997198586	0.25216	.	.	0.756334781647	0.75384	T	0.012156	0.10734	T	-0.463156	0.00939	T	-0.423788	0.30643	T	0.0473489084509676	0.05028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.141636	0.15289	11.74	0.99015246300985382	0.50463	0.00856	0.03410	N	ALL	0.042906	0.06716	N	-0.802475667646566	0.13247	0.6512318	-0.979959058866059	0.10236	0.5142262	0.999999999956359	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.81	0.368	0.15378	0.092000	0.14905	.	.	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1513:0.0:0.5955:0.2532	3.633	0.07681	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	0.061388	0.040541	0.085987	0.105263	0.000000	0.038462	0.038462	0.014085	0.02632	612.33	16	chr19	54463480	.	G	A	612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=547;ExcessHet=0;FS=3.074;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.5;ReadPosRankSum=-0.747;SOR=0.33	GT:AD:DP:GQ:PL	0/1:11,24:35:99:626,0,237	18	0	1	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:326,120:446:99:2238,0,9735	8	0	11	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3158	19383.8	304	chr19	54752378	.	A	T	19383.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-4.229;DP=4495;ExcessHet=0.145;FS=0;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=54.4;MQRankSum=-17.09;QD=8.05;ReadPosRankSum=0.964;SOR=0.712	GT:AD:DP:GQ:PL	0/1:371,131:502:99:2358,0,10896	10	3	6	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	23283.8	396	chr19	54752434	.	G	C	23283.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-2.516;DP=4967;ExcessHet=0.145;FS=7.788;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.43;MQRankSum=-19.66;QD=8.2;ReadPosRankSum=2.5;SOR=0.941	GT:AD:DP:GQ:PL	0/1:505,125:630:99:2817,0,14607	10	3	6	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	30704.8	410	chr19	54752445	.	C	T	30704.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.489;DP=4987;ExcessHet=0.145;FS=10.496;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=55.62;MQRankSum=-20.04;QD=10.61;ReadPosRankSum=0.499;SOR=1.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:508,127:635:99:0|1:54752445_C_T:3781,0,20709:54752445	10	3	6	0
chr19	54752476	54752476	C	G	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C983G:p.T328R	.	446	1073	3	0	0	3	0.001396	.	.	.	2761862	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	.	.	0.000998403	0.0010	0	0	0	0	0	0	0.0086	0.0007827	121	154602	rs560363669	0.0004	0.0003	0.0002	0.0005	0.0062	0.0003	0.0003	0.0058	0.0056	0	0	0	0	0	0.0002	9.835e-07	0.0003	0.0062	0.0002	0.0002	5.83e-05	0.0003	0.0053	0.0001	0.0001	0.0035	0.0029	0	0	0	0	0	0	0	4.931e-05	0.0006	0.0053	0.0	0.91255	D	0.117	0.36365	T	0.988	0.62325	D	0.905	0.64260	P	.	.	.	.	1	0.08975	N	2.72	0.79541	M	7.22	0.00432	T	-2.82	0.59545	D	0.069	0.04188	-0.9459	0.41665	T	0.004	0.01330	T	9	0.008415073	0.00191	T	.	.	.	0.038	0.09825	0.367	0.37524	0.421184727016	0.41734	0.08625163816783217	0.08559	0.509313189042	0.49072	.	.	.	0.092339	0.38983	T	-0.581615	0.00188	T	-0.60324	0.12541	T	0.12912573172012	0.15300	T	.	.	.	0.1692188	0.37425	0.19473897	0.43114	0.1692188	0.37425	0.19473897	0.43113	-7.18	0.55337	T	.	.	0.084	0.09723	B	.	.	1.009164	0.13879	10.44	0.94926727689599499	0.25806	0.01071	0.03965	N	AEFI	0.029503	0.02796	N	-0.261535751272973	0.30646	1.710708	-0.615044021476527	0.19107	1.023687	2.73389013816173E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.772000	0.04800	.	.	0.426000	0.20854	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	5.189	0.14522	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001147	0.000000	0.002915	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	6524.33	398	chr19	54752476	.	C	G	6524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.086;DP=3380;ExcessHet=0;FS=1.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.22;MQRankSum=8.99;QD=10.42;ReadPosRankSum=1.75;SOR=0.574	GT:AD:DP:GQ:PL	0/1:364,262:626:99:6538,0,11116	18	0	1	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	18559.8	408	chr19	54752485	.	T	C	18559.8	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.51;DP=3383;ExcessHet=0.145;FS=30.574;InbreedingCoeff=0.2692;MLEAC=12;MLEAF=0.316;MQ=56;MQRankSum=-19.62;QD=6.83;ReadPosRankSum=-2.781;SOR=2.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:530,91:621:99:0|1:54752482_T_C:2226,0,21924:54752482	10	3	6	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	9081.15	373	chr19	54752511	.	G	A	9081.15	.	AC=11;AF=0.289;AN=38;BaseQRankSum=6.55;DP=3015;ExcessHet=0.0524;FS=46.673;InbreedingCoeff=0.3603;MLEAC=11;MLEAF=0.289;MQ=57.02;MQRankSum=-18.05;QD=4.49;ReadPosRankSum=-0.35;SOR=4.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:494,60:554:99:0|1:54752511_G_A:1033,0,20312:54752511	11	3	5	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	5632.82	409	chr19	54760643	.	A	G	5632.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.964;DP=3070;ExcessHet=5.3738;FS=0.841;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.21;MQRankSum=-7.788;QD=2.22;ReadPosRankSum=-1.6;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,30:287:99:0|1:54760643_A_G:486,0,10551:54760643	10	0	9	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	6909.82	427	chr19	54760651	.	G	C	6909.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.367;DP=3110;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=53.71;MQRankSum=-7.967;QD=2.66;ReadPosRankSum=-0.854;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,39:295:99:0|1:54760643_A_G:783,0,10484:54760643	10	0	9	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8391.82	417	chr19	54760665	.	T	C	8391.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.929;DP=3064;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=54.49;MQRankSum=-8.924;QD=3.29;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,40:287:99:0|1:54760665_T_C:936,0,10139:54760665	10	0	9	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	8694.82	404	chr19	54760676	.	T	A	8694.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.677;DP=2989;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.24;MQRankSum=-9.527;QD=3.5;ReadPosRankSum=2.82;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:243,40:283:99:0|1:54760665_T_C:948,0,10083:54760665	10	0	9	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9144.82	392	chr19	54760692	.	A	G	9144.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.194;DP=2791;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.94;MQRankSum=-10.82;QD=3.87;ReadPosRankSum=3.07;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,40:269:99:0|1:54760692_A_G:990,0,9454:54760692	10	0	9	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	9240.82	386	chr19	54760695	.	T	C	9240.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.033;DP=2772;ExcessHet=5.3738;FS=0.76;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=55.99;MQRankSum=-11.04;QD=3.96;ReadPosRankSum=3.13;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,40:268:99:0|1:54760692_A_G:993,0,9433:54760692	10	0	9	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-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	.	.	.	.	.	.	.	.	0.07895	256.27	627	chr19	54767339	.	G	A	256.27	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.602;DP=4070;ExcessHet=0.3672;FS=4.083;InbreedingCoeff=-0.0841;MLEAC=3;MLEAF=0.079;MQ=58.47;MQRankSum=-16.78;QD=0.23;ReadPosRankSum=-0.476;SOR=0.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:480,35:515:10:0|1:54767339_G_A:10,0,19996:54767339	16	0	3	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	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	.	.	.	.	.	.	.	.	0.07895	286.8	627	chr19	54767342	.	T	C	286.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.588;DP=4068;ExcessHet=0.3672;FS=2.365;InbreedingCoeff=-0.086;MLEAC=3;MLEAF=0.079;MQ=58.46;MQRankSum=-16.82;QD=0.25;ReadPosRankSum=0.347;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:486,36:522:34:0|1:54767339_G_A:34,0,20245:54767339	16	0	3	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	184.8	627	chr19	54767348	.	TC	T	184.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.158;DP=4053;ExcessHet=0.119;FS=2.377;InbreedingCoeff=-0.0447;MLEAC=1;MLEAF=0.026;MQ=58.53;MQRankSum=-16.73;QD=0.23;ReadPosRankSum=1.19;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:488,35:523:1:0|1:54767339_G_A:1,0,20386:54767339	17	0	2	0
chr19	54770861	54770861	T	-	exonic	KIR2DL1;KIR2DS5;LOC112267881	.	frameshift deletion	LOC112267881:NM_001368251:exon2:c.47delT:p.L16fs,KIR2DL1:NM_014218:exon2:c.47delT:p.L16fs,KIR2DS5:NM_014513:exon2:c.47delT:p.L16fs	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0013	0	0	0	0	0	0	0.0131	0.0002689	7	26028	rs559429882	0.0002	0.0003	0.0001	0.0003	0.0034	0.0002	0.0002	0.0031	0.0029	0	0	0	0	0	0.0002	0	0.0002	0.0034	0.0001	0.0001	5.262e-05	0.0002	0.0036	8.368e-05	6.89e-05	0.0023	0.0019	0	0	0	0	0	0	0	1.511e-05	0.0005	0.0036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2772.29	76	chr19	54770860	.	CT	C	2772.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.123;DP=1968;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=0.839;QD=7.37;ReadPosRankSum=0.659;SOR=0.69	GT:AD:DP:GQ:PL	0/1:279,97:376:99:2786,0,10104	18	0	1	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	11554.4	606	chr19	54773464	.	G	C	11554.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.09;DP=5593;ExcessHet=1.3;FS=3.783;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.56;MQRankSum=-17.89;QD=3.48;ReadPosRankSum=-1.139;SOR=1.211	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:787,187:974:99:0|1:54773456_T_C:5447,0,31453:54773456	14	0	5	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	19496.4	634	chr19	54773510	.	C	G	19496.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.64;DP=6108;ExcessHet=1.3;FS=2.296;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=57.51;MQRankSum=-21.25;QD=5.16;ReadPosRankSum=3.43;SOR=0.964	GT:AD:DP:GQ:PL	0/1:837,269:1106:99:8126,0,23576	14	0	5	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8030.14	336	chr19	54805015	.	T	C	8030.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.79;DP=2956;ExcessHet=4.0268;FS=6.647;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-13.01;QD=3.18;ReadPosRankSum=1.01;SOR=1.37	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:297,31:328:99:0|1:54805010_A_G:408,0,12357:54805010	11	0	8	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	8007.14	338	chr19	54805016	.	T	A	8007.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.061;DP=2964;ExcessHet=4.0268;FS=6.669;InbreedingCoeff=-0.262;MLEAC=8;MLEAF=0.211;MQ=58.87;MQRankSum=-12.91;QD=3.16;ReadPosRankSum=0.2;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,31:331:99:0|1:54805010_A_G:399,0,12483:54805010	11	0	8	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	9966.21	342	chr19	54805024	.	A	G	9966.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.197;DP=3023;ExcessHet=4.0268;FS=7.817;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58.86;MQRankSum=-12.27;QD=3.85;ReadPosRankSum=0.559;SOR=1.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,39:343:99:0|1:54805010_A_G:723,0,12648:54805010	11	0	8	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11574.8	336	chr19	54805033	.	C	T	11574.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.08;DP=3229;ExcessHet=5.3738;FS=7.591;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.86;MQRankSum=-11.71;QD=4.13;ReadPosRankSum=0.026;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,42:342:99:0|1:54805010_A_G:861,0,12425:54805010	10	0	9	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16487.8	282	chr19	54805068	.	A	G	16487.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.661;DP=3098;ExcessHet=5.3738;FS=6.408;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.58;MQRankSum=-10.13;QD=6.21;ReadPosRankSum=0.594;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:259,56:315:99:.:.:1554,0,7122:.	10	0	9	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	11217.8	285	chr19	54805957	.	A	T	11217.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=6.41;DP=3489;ExcessHet=5.3738;FS=0.745;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.14;MQRankSum=-17.54;QD=4.08;ReadPosRankSum=1.88;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,62:319:99:0|1:54805940_TCTC_T:1830,0,10605:54805940	10	0	9	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	12237.8	292	chr19	54805960	.	A	G	12237.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.08;DP=3554;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.09;MQRankSum=-17.89;QD=4.35;ReadPosRankSum=1.92;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,64:326:99:0|1:54805940_TCTC_T:1899,0,10809:54805940	10	0	9	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18304.8	343	chr19	54805974	.	A	T	18304.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=5;DP=3907;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.07;MQRankSum=-17.64;QD=5.78;ReadPosRankSum=0.738;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,94:375:99:0|1:54805940_TCTC_T:3101,0,11516:54805940	10	0	9	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.2368	21863.8	367	chr19	54805981	.	G	A	21863.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.72;DP=4133;ExcessHet=5.3738;FS=0.661;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.06;MQRankSum=-17.14;QD=6.47;ReadPosRankSum=-0.103;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,110:408:99:0|1:54805940_TCTC_T:3719,0,12121:54805940	10	0	9	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	28967.8	464	chr19	54806034	.	C	A	28967.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.002;DP=5609;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.16;MQRankSum=-17.78;QD=7.14;ReadPosRankSum=2.67;SOR=0.52	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:356,125:481:99:0|1:54806034_C_A:4168,0,14489:54806034	10	0	9	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	29072.8	465	chr19	54806035	.	A	G	29072.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.057;DP=5621;ExcessHet=5.3738;FS=2.16;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.17;MQRankSum=-17.85;QD=7.12;ReadPosRankSum=2.75;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,125:483:99:0|1:54806034_C_A:4162,0,14573:54806034	10	0	9	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2368	26861.8	480	chr19	54806051	.	C	G	26861.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.294;DP=5669;ExcessHet=5.3738;FS=3.155;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-18.22;QD=6.48;ReadPosRankSum=4.27;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:370,121:491:99:0|1:54806034_C_A:3967,0,14740:54806034	10	0	9	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24665.8	493	chr19	54806072	.	GGA	G	24665.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.909;DP=5543;ExcessHet=5.3738;FS=5.455;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.64;MQRankSum=-17.97;QD=5.92;ReadPosRankSum=2.26;SOR=1.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,118:492:99:0|1:54806072_GGA_G:3829,0,15139:54806072	10	0	9	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24827.8	486	chr19	54806075	.	A	AGG	24827.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.586;DP=5494;ExcessHet=5.3738;FS=5.401;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.62;MQRankSum=-18.11;QD=6.01;ReadPosRankSum=1.98;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:372,118:490:99:0|1:54806072_GGA_G:3835,0,15085:54806072	10	0	9	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	24762.8	493	chr19	54806086	.	T	C	24762.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.369;DP=5427;ExcessHet=5.3738;FS=5.364;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.59;MQRankSum=-17.7;QD=6.11;ReadPosRankSum=-0.813;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:344,122:466:99:.:.:3901,0,9848:.	10	0	9	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22088.8	476	chr19	54806109	.	A	G	22088.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.825;DP=5255;ExcessHet=5.3738;FS=6.805;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.8;MQRankSum=-16.73;QD=5.7;ReadPosRankSum=-4.112;SOR=1.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:324,110:434:99:.:.:3601,0,9167:.	10	0	9	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	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	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1795.4	47	chr19	54806161	.	A	G	1795.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.44;DP=3936;ExcessHet=2.0135;FS=17.833;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.42;MQRankSum=-17.69;QD=0.91;ReadPosRankSum=3.35;SOR=2.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:276,34:310:99:0|1:54806161_A_G:597,0,11188:54806161	13	0	6	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	1616.45	47	chr19	54806170	.	G	C	1616.45	.	AC=6;AF=0.158;AN=38;BaseQRankSum=3.6;DP=3936;ExcessHet=2.0135;FS=11.67;InbreedingCoeff=-0.1833;MLEAC=6;MLEAF=0.158;MQ=58.45;MQRankSum=-17.59;QD=0.82;ReadPosRankSum=2.4;SOR=2.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,36:311:99:0|1:54806161_A_G:682,0,11156:54806161	13	0	6	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2223.93	47	chr19	54806184	.	T	C	2223.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=6.11;DP=3906;ExcessHet=0.7564;FS=12.693;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.1;MQRankSum=-17.6;QD=1.71;ReadPosRankSum=0.112;SOR=2.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,45:316:99:0|1:54806184_T_C:1074,0,11143:54806184	14	0	4	1
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	2514.93	47	chr19	54806191	.	G	A	2514.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.393;DP=3918;ExcessHet=0.7564;FS=14.521;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.01;MQRankSum=-17.76;QD=1.9;ReadPosRankSum=-2.092;SOR=2.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:273,47:320:99:0|1:54806184_T_C:1152,0,11313:54806184	14	0	4	1
chr19	54806230	54806230	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C641T:p.P214L,KIR2DL4:NM_001080772:exon4:c.C641T:p.P214L	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000816710685669	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs373028201	1.371e-06	1.505e-05	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.30943	T	0.751	0.15406	T	0.0	0.02946	B	0.002	0.08700	B	0.008959	0.01224	N	6.106810	1	0.08975	N	-0.34	0.03507	N	2.72	0.11947	T	-2.22	0.56144	N	0.07	0.08227	-0.9609	0.39012	T	0.015	0.05801	T	10	0.024040222	0.00648	T	8.17E-4	0.00670	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.021072794982650286	0.02060	1.56403758506	0.88076	.	.	.	.	.	.	-0.392352	0.02598	T	-0.801363	0.01868	T	0.0486300559627527	0.05257	T	.	.	.	.	.	.	.	.	.	.	.	-1.357	0.29719	T	.	.	0.072	0.12181	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.620061	0.01518	0.097	0.48884289032456646	0.04116	0.00062	0.00453	N	AEFBI	0.019551	0.00689	N	-2.36564159368528	0.00032	0.001392303	-2.42714203885532	0.00034	0.001497015	0.00765305925471646	0.11515	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.01	0.07003	-0.780000	0.04759	.	.	-3.486000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2225:0.3846:0.0:0.3929	3.217	0.06304	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	321.83	47	chr19	54806230	.	C	T	321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.65;DP=1774;ExcessHet=0.119;FS=10.485;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=58.04;MQRankSum=-15.89;QD=0.61;ReadPosRankSum=-0.388;SOR=1.797	GT:AD:DP:GQ:PL	0/1:223,32:255:99:315,0,6569	17	0	2	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21983.8	431	chr19	54808838	.	C	T	21983.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=4.49;DP=4107;ExcessHet=5.3738;FS=2.282;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.63;MQRankSum=-19.28;QD=5.92;ReadPosRankSum=0.827;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:340,112:452:99:0|1:54808838_C_T:3654,0,13886:54808838	10	0	9	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	23223.8	454	chr19	54808850	.	TGG	T	23223.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.49;DP=4360;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.81;MQRankSum=-18.9;QD=5.89;ReadPosRankSum=0.205;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:364,104:468:99:.:.:2231,0,14931:.	10	0	9	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	24382.8	451	chr19	54808853	.	C	CAT	24382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.99;DP=4351;ExcessHet=5.3738;FS=1.396;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.86;MQRankSum=-18.78;QD=6.24;ReadPosRankSum=0.002;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:359,104:465:99:.:.:3489,0,14743:.	10	0	9	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2368	28020.8	436	chr19	54808875	.	T	C	28020.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.98;DP=4474;ExcessHet=5.3738;FS=0.625;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58.08;MQRankSum=-17.34;QD=6.97;ReadPosRankSum=-2.035;SOR=0.643	GT:AD:DP:GQ:PL	0/1:358,119:477:99:3894,0,9983	10	0	9	0
chr19	54818396	54818396	A	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001083539:exon3:c.A152G:p.Y51C,KIR3DL1:NM_001322168:exon3:c.A152G:p.Y51C,LOC112268355:NM_001368254:exon3:c.A152G:p.Y51C,KIR3DL1:NM_013289:exon3:c.A152G:p.Y51C	.	409	1037	58	1	17	77	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0084	0.00499201	0.0082	0.0014	0.0045	0	0.0020	0.0110	0.0037	0.0109	0.0073156	1131	154602	rs145262243	0.0076	0.0076	0.0075	0.0076	0.0103	0.0075	0.0074	0.0082	0.0076	0.0007	0.0039	0.0344	7.56e-05	0.0024	0.0103	0.0078	0.0082	0.0066	0.0051	0.0050	0.0055	0.0048	0.0072	0.0048	0.0047	0.0066	0.0064	0.0012	0.0077	0.0034	0.0362	0	0.0011	0.0034	0.0072	0.0044	0.0059	0.024	0.48186	D	0.033	0.53072	D	0.022	0.18677	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	2.69	0.12268	T	-2.31	0.51319	N	0.146	0.14763	-1.0581	0.12235	T	0.036	0.15334	T	9	0.007935494	0.00180	T	.	.	.	0.061	0.17616	.	.	0.119812018005	0.11559	0.18560298663992075	0.18478	0.528210940665	0.50417	.	.	.	0.002372	0.01768	T	-0.682385	0.00046	T	-0.742588	0.03782	T	0.0381217510769765	0.03354	T	.	.	.	0.19847932	0.41752	0.14993146	0.35380	0.19847932	0.41752	0.14993146	0.35379	-6.516	0.50410	T	.	.	0.183	0.39731	B	.;.	.;.	0.471660	0.08413	5.168	0.89335038371403175	0.18708	0.00128	0.00795	N	AEFDBI	0.048260	0.08217	N	-1.07536318344464	0.07100	0.3288053	-1.33713906919339	0.03960	0.1857968	2.52494180885675E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-2.51	0.05996	-0.314000	0.08132	.	.	-2.965000	0.00148	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3118:0.4675:0.0:0.2207	2.032	0.03317	982	0.03397	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007269	0.010204	0.004190	0.003030	0.000000	0.000000	0.019231	0.000000	0.02632	3470.33	46	chr19	54818396	.	A	G	3470.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=2362;ExcessHet=0;FS=2.449;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=-1.932;QD=16.37;ReadPosRankSum=0.289;SOR=0.539	GT:AD:DP:GQ:PL	0/1:119,93:215:99:3484,0,4706	18	0	1	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	15116.4	469	chr19	54847203	.	T	*	15116.4	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.277;DP=6140;ExcessHet=5.3738;FS=0.531;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=59.5;MQRankSum=-4.302;QD=3.03;ReadPosRankSum=1.56;SOR=0.737	GT:AD:DP:GQ:PL	0/1:360,155:689:99:4925,0,17192	17	0	2	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16182.8	400	chr19	54855625	.	A	T	16182.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.948;DP=3660;ExcessHet=5.3738;FS=5.844;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.44;MQRankSum=-15.96;QD=4.91;ReadPosRankSum=1.39;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:413,93:506:99:0|1:54855608_TCTC_T:2661,0,17062:54855608	10	0	9	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	15726.8	400	chr19	54855628	.	A	G	15726.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.821;DP=3692;ExcessHet=5.3738;FS=4.645;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.48;MQRankSum=-16.15;QD=4.72;ReadPosRankSum=0.875;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:421,92:513:99:0|1:54855608_TCTC_T:2595,0,17328:54855608	10	0	9	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4676.36	37	chr19	54855666	.	CAG	C	4676.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.815;DP=2910;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.1;MQRankSum=-18.27;QD=1.99;ReadPosRankSum=-0.397;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:489,45:534:99:0|1:54855666_CAG_C:415,0,20328:54855666	13	0	6	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4691.36	37	chr19	54855669	.	G	GCA	4691.36	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.507;DP=2868;ExcessHet=2.0135;FS=16.669;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=58.27;MQRankSum=-18.56;QD=2;ReadPosRankSum=-0.817;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:488,45:533:99:0|1:54855666_CAG_C:418,0,20306:54855666	13	0	6	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	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	.	.	.	.	.	.	.	.	0.1053	2293.43	58	chr19	54859084	.	C	T	2293.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.757;DP=2389;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=43.1;MQRankSum=-6.226;QD=1.28;ReadPosRankSum=-1.091;SOR=0.686	GT:AD:DP:GQ:PL	0/1:402,33:435:99:180,0,10108	15	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2124.39	58	chr19	54859096	.	TGG	T	2124.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.89;DP=2420;ExcessHet=0.7564;FS=0.938;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.24;MQRankSum=-5.586;QD=1.17;ReadPosRankSum=0.893;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:408,33:441:99:.:.:158,0,17012:.	15	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2020.39	58	chr19	54859099	.	C	CAT	2020.39	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.825;DP=2401;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=42.16;MQRankSum=-5.525;QD=1.12;ReadPosRankSum=1.1;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:404,33:439:99:.:.:158,0,16963:.	15	0	4	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	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	.	.	.	.	.	.	.	.	0.1053	2183.43	58	chr19	54859126	.	T	A	2183.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.938;DP=2289;ExcessHet=0.7564;FS=0.941;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=41.24;MQRankSum=-4.282;QD=1.3;ReadPosRankSum=4.53;SOR=0.558	GT:AD:DP:GQ:PL	0/1:392,29:421:42:42,0,10200	15	0	4	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22597.8	284	chr19	54865810	.	T	C	22597.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.986;DP=2652;ExcessHet=5.3738;FS=1.952;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.92;MQRankSum=-10.78;QD=9.81;ReadPosRankSum=1.98;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,82:267:99:0|1:54865794_T_C:2886,0,7521:54865794	10	0	9	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22429.8	301	chr19	54865825	.	G	A	22429.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.241;DP=2724;ExcessHet=5.3738;FS=1.229;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.98;MQRankSum=-10.85;QD=9.44;ReadPosRankSum=1.27;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,86:290:99:0|1:54865794_T_C:2997,0,8307:54865794	10	0	9	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22846.8	292	chr19	54865847	.	T	C	22846.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.52;DP=2735;ExcessHet=5.3738;FS=1.233;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.89;MQRankSum=-11.29;QD=9.58;ReadPosRankSum=-0.512;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,89:296:99:0|1:54865794_T_C:3114,0,8424:54865794	10	0	9	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	22283.8	290	chr19	54865852	.	T	A	22283.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.288;DP=2728;ExcessHet=5.3738;FS=0.585;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.95;MQRankSum=-11.05;QD=9.38;ReadPosRankSum=-0.814;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:202,87:292:99:.:.:3034,0,8300:.	10	0	9	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	21311.8	283	chr19	54865864	.	C	A	21311.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-0.371;DP=2678;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.79;QD=9.15;ReadPosRankSum=-1.298;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,87:285:99:0|1:54865794_T_C:3057,0,8052:54865794	10	0	9	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	20345.8	277	chr19	54865870	.	C	T	20345.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.04;DP=2639;ExcessHet=5.3738;FS=0.593;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=58;MQRankSum=-10.61;QD=8.88;ReadPosRankSum=-1.286;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,82:282:99:0|1:54865794_T_C:2841,0,8151:54865794	10	0	9	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	18505.8	253	chr19	54865885	.	T	C	18505.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.01;DP=2431;ExcessHet=5.3738;FS=2.014;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.87;MQRankSum=-10.07;QD=8.9;ReadPosRankSum=-0.993;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:181,72:253:99:.:.:2479,0,7017:.	10	0	9	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	17382.8	250	chr19	54865888	.	C	T	17382.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=3.31;DP=2397;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.88;MQRankSum=-10.14;QD=8.47;ReadPosRankSum=-1.507;SOR=0.873	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,66:251:99:0|1:54865794_T_C:2214,0,7537:54865794	10	0	9	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	16780.8	240	chr19	54865893	.	G	C	16780.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=2.95;DP=2346;ExcessHet=5.3738;FS=2.047;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=57.82;MQRankSum=-9.923;QD=8.48;ReadPosRankSum=-1.483;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,63:243:99:0|1:54865794_T_C:2104,0,7293:54865794	10	0	9	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	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	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-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	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1842	10927.4	327	chr19	54866420	.	C	G	10927.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.131;DP=2886;ExcessHet=2.9153;FS=19.849;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.15;MQRankSum=-16.65;QD=5.36;ReadPosRankSum=0.448;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,49:278:99:0|1:54866416_T_C:1368,0,9442:54866416	12	0	7	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	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	.	.	.	.	.	.	.	.	0.1111	1677.93	40	chr19	54866533	.	A	T	1677.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-0.178;DP=3750;ExcessHet=0.7564;FS=36.09;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=58.13;MQRankSum=-22.23;QD=0.82;ReadPosRankSum=0.265;SOR=2.956	GT:AD:DP:GQ:PL	0/1:452,60:512:99:307,0,13361	14	0	4	1
chr19	54983686	54983686	C	T	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.C1922T:p.P641L,NLRP2:NM_001174081:exon6:c.C1988T:p.P663L,NLRP2:NM_001348003:exon6:c.C1979T:p.P660L,NLRP2:NM_017852:exon6:c.C1988T:p.P663L,NLRP2:NM_001174083:exon7:c.C1919T:p.P640L	.	0	225	1	0	0	1	0.00221729	.	.	.	3458786	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00574040114842	.	.	1.655e-05	0	0	0	0	3.015e-05	0	0	1.94e-05	3	154602	rs775271805	2.532e-05	2.736e-05	2.587e-05	2.476e-05	6.709e-05	1.868e-05	1.631e-05	2.082e-05	1.782e-05	0	6.709e-05	0	0	0	0	2.878e-05	3.313e-05	0	1.972e-05	1.97e-05	3.855e-05	0	6.551e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.94e-05	0	0	0.28	0.15984	T	0.321	0.19908	T	0.02	0.20480	B	0.005	0.18140	B	.	.	.	.	0.99303	0.23785	N	0.465	0.13073	N	-0.7	0.73311	T	-0.3	0.13418	N	0.055	0.03175	-1.0021	0.29313	T	0.130	0.43927	T	9	0.06432006	0.08512	T	0.00574	0.14892	T	0.044	0.11924	.	.	0.451118754121	0.44735	0.09723520869024986	0.09654	0.0455527235742	0.04945	0.222013041377	0.01429	T	0.005682	0.05129	T	-0.336149	0.05660	T	-0.564266	0.15978	T	0.0113935889676213	0.00170	T	.	.	.	0.021185448	0.00709	0.027468473	0.00903	0.021185448	0.00709	0.027468473	0.00903	-0.779	0.01557	T	.	.	0.080	0.12985	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.086946	0.04916	1.493	0.30861924109655098	0.01710	0.00088	0.00587	N	AEFDBI	0.025337	0.01718	N	-1.35720545270877	0.03051	0.1356795	-1.37412914263076	0.03530	0.1648403	1.21553142573825E-4	0.05386	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	1.94	0.902	0.18422	-1.047000	0.03632	.	.	-0.278000	0.06506	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2365:0.0:0.7635	3.339	0.06694	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2363.33	254	chr19	54983686	.	C	T	2363.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.448;DP=1673;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.337;SOR=0.665	GT:AD:DP:GQ:PL	0/1:160,103:263:99:2377,0,4116	18	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,103:103:99:.:.:4544,317,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,103:103:99:.:.:4544,317,0:.	0	15	4	0
chr19	55615585	55615585	C	T	exonic	ZNF865	.	nonsynonymous SNV	ZNF865:NM_001195605:exon2:c.C1967T:p.A656V	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104490117142	.	.	0.0001	0	0	0	.	0.0004	0	0	6.5e-06	1	154602	rs767390758	3.772e-05	3.557e-05	3.723e-05	3.822e-05	0.0004	2.929e-05	2.652e-05	6.202e-05	2.674e-05	0	2.84e-05	0	0	2.989e-05	0.0004	3.994e-05	6.936e-05	1.272e-05	3.286e-05	3.284e-05	5.139e-05	1.345e-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	0.518	0.07307	T	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.29	0.06445	T	0.15	0.05310	N	0.312	0.35194	.	.	.	.	.	.	.	0.09280419	0.16372	T	0.10449	0.77909	D	.	.	.	.	0.322230723748	0.31824	0.14471222710595127	0.14394	.	.	0.78690379858	0.79971	T	0.003344	0.02748	T	-0.468771	0.00865	T	-0.656088	0.08533	T	.	.	.	0.507449	0.16094	T	0.09031045	0.21128	0.06227947	0.12159	0.09031045	0.21127	0.06227947	0.12159	-5.488	0.41756	T	.	.	0.096	0.15206	B	.	.	0.857987	0.12304	8.844	0.98693551987549788	0.44795	0.10970	0.16318	N	AEFDBCI	0.066180	0.12948	N	.	.	.	.	.	.	0.0734315665794744	0.15634	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.8	2.6	0.30173	-0.078000	0.11338	1.277000	0.25327	0.520000	0.23804	0.000000	0.06391	0.001000	0.17328	0.118000	0.19084	0.0:0.6754:0.3246:0.0	12.435	0.54929	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1609.33	34	chr19	55615585	.	C	T	1609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.416;DP=754;ExcessHet=0;FS=3.52;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-1.73;SOR=0.624	GT:AD:DP:GQ:PL	0/1:52,57:109:99:1623,0,1395	18	0	1	0
chr19	56102845	56102845	C	T	exonic	ZNF787	.	nonsynonymous SNV	ZNF787:NM_001351682:exon2:c.G373A:p.V125I	.	400	1095	27	0	0	27	0.0121786	.	.	.	3185298	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0099	0	0	0	0	0.0072	0	0.0133	0.0014877	230	154602	rs150201146	0.0055	0.0057	0.0053	0.0057	0.0078	0.0053	0.0053	0.0072	0.0070	0.0013	0.0030	0.0050	0.0002	0.0024	0.0056	0.0065	0.0054	0.0078	0.0043	0.0043	0.0044	0.0041	0.0063	0.0040	0.0039	0.0058	0.0056	0.0014	0.0044	0.0048	0.0055	0	0.0024	0.0034	0.0063	0.0052	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	0.0038289726	0.00072	T	.	.	.	.	.	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.838683	0.00003	T	-0.971937	0.00201	T	.	.	.	0.270173	0.04542	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34840	B	.	.	-0.481096	0.01929	0.163	0.64026388049786265	0.07381	0.00202	0.01159	N	AEFDBI	0.017101	0.00426	N	.	.	.	.	.	.	0.995142174947422	0.33974	0.580535	0.33130	0	0.546412	0.12157	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	1.13	-2.26	0.06478	-3.001000	0.00716	.	.	-3.812000	0.00058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2438:0.4398:0.0:0.3163	2.775	0.05016	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	897.33	34	chr19	56102845	.	C	T	897.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.613;DP=722;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.79;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,36:82:99:911,0,1118	18	0	1	0
chr19	57328811	57328811	C	T	exonic	ZNF543	.	nonsynonymous SNV	ZNF543:NM_213598:exon4:c.C1349T:p.P450L	.	399	1122	1	0	0	1	0.000445434	.	.	.	3361063	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0101204322762	.	.	9.061e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs763438077	3.215e-05	3.215e-05	2.042e-05	4.4e-05	0.0005	2.478e-05	2.22e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.979339	0.39551	D	1.71	0.44315	L	1.66	0.27486	T	-9.12	0.98193	D	0.412	0.45237	-0.7938	0.55508	T	0.158	0.49094	T	9	0.17806807	0.32873	T	0.01012	0.26280	T	0.178	0.44724	0.464	0.53404	0.559923220125	0.55653	0.01934667843888138	0.01888	0.270430449395	0.29564	0.492611050606	0.37801	T	0.092108	0.38935	T	-0.347576	0.04881	T	-0.372883	0.36551	T	0.903429746627808	0.55663	D	0.0749925	0.00549	T	0.5731859	0.71235	0.61810297	0.77762	0.5731859	0.71236	0.61810297	0.77763	-6.525	0.50479	T	.	.	0.795	0.77034	P	.	.	4.349856	0.66808	25.0	0.9968654091585788	0.79641	0.61218	0.31420	D	AEFDGBCI	0.099307	0.19993	N	0.279585509093437	0.55115	3.675802	0.138199137595287	0.46520	2.89667	0.759439069074989	0.23486	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	3.0	3.0	0.33773	3.549000	0.53431	.	.	0.524000	0.24156	0.947000	0.32937	0.000000	0.08366	0.993000	0.69303	0.0:1.0:0.0:0.0	13.193	0.59145	545	0.72614	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2102.33	42	chr19	57328811	.	C	T	2102.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=1155;ExcessHet=0;FS=1.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.468;SOR=0.562	GT:AD:DP:GQ:PL	0/1:70,71:141:99:2116,0,1933	18	0	1	0
chr20	3698028	3698028	G	A	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon8:c.C1892T:p.P631L,SIGLEC1:NM_023068:exon9:c.C1892T:p.P631L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.450	0.0438471854021	.	.	9.009e-06	0	0	0	0	0	0.0012	0	6.5e-06	1	154602	rs752322631	8.231e-06	8.893e-06	5.459e-06	1.103e-05	0.0002	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	9.004e-06	0	1.163e-05	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	0.13	0.26740	T	0.006	0.70582	D	0.999	0.77913	D	0.989	0.78396	D	0.001631	0.38439	N	0.000000	0.999994	0.58761	D	2.455	0.71248	M	-0.85	0.74371	T	-4.74	0.80172	D	0.614	0.63035	-0.1096	0.79877	T	0.495	0.80854	T	10	0.79545546	0.79029	D	0.043847	0.61191	D	0.450	0.75074	.	.	0.874491612021	0.87326	0.5795085272035632	0.57879	0.538619484499	0.51112	0.470827311277	0.34794	T	0.550861	0.84790	D	0.0211935	0.54541	T	-0.0948427	0.63794	T	0.942915380001068	0.61757	D	0.784922	0.42251	T	0.08976682	0.20985	0.14501369	0.34407	0.08976682	0.20985	0.14501369	0.34406	-5.658	0.43318	T	.	.	0.137	0.29833	B	.	.	4.667643	0.74564	26.2	0.99871291817536523	0.94902	0.15892	0.19132	N	AEFDBI	0.173273	0.30035	N	0.340096528463589	0.58220	3.992909	0.255897882128519	0.52984	3.469896	0.583250427383192	0.21588	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.3	5.3	0.74745	0.934000	0.28510	5.014000	0.46692	0.676000	0.76740	0.053000	0.21524	1.000000	0.68203	0.399000	0.26759	0.0:0.0:0.8198:0.1802	11.389	0.49043	740	0.53092	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1141.33	34	chr20	3698028	.	G	A	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=2;SOR=0.599	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1155,0,915	18	0	1	0
chr20	13221797	13221799	GCT	-	exonic	ISM1	.	nonframeshift deletion	ISM1:NM_080826:exon1:c.21_23del:p.L12del	.	.	.	.	.	.	.	.	.	.	.	3206872	ISM1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0098	.	0.0212	0.0070	0	0.0164	0	0.0209	0.0476	0.0217	0.0010996	170	154602	rs764390050	0.0007	0.0067	0.0007	0.0007	0.0029	0.0006	0.0006	0.0023	0.0021	0.0008	0.0029	0.0015	0.0002	0.0008	0.0008	0.0005	0.0010	0.0025	1.321e-05	9.204e-05	1.291e-05	1.353e-05	6.569e-05	2.2e-06	8.2e-07	.	.	2.42e-05	0	6.569e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	37.4	18	chr20	13221796	.	AGCT	A	37.4	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.846;DP=323;ExcessHet=0;FS=0;InbreedingCoeff=-0.0332;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.88;ReadPosRankSum=-0.197;SOR=0.33	GT:AD:DP:GQ:PL	0/1:11,2:13:51:51,0,456	18	0	1	0
chr20	23750833	23750833	G	T	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.C34A:p.L12M	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0012569214424	0.0006	0.000599042	0.0007	0.0008	0.0003	0.0001	0	0.0009	0.0024	0.0006	0.0005692	88	154602	rs150586879	0.0004	0.0004	0.0004	0.0004	0.0030	0.0004	0.0004	0.0019	0.0015	0.0006	0.0002	0.0011	7.559e-05	0.0001	0.0030	0.0004	0.0006	0.0005	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0004	0.0005	0.0005	0.0007	0	0.0005	0.0009	0	9.416e-05	0.0136	0.0005	0.0009	0.0002	0.01	0.56456	D	0.03	0.54159	D	0.994	0.66517	D	0.953	0.69275	D	0.361657	0.13661	N	0.670498	1	0.08975	N	1.465	0.36909	L	2.72	0.11947	T	-1.29	0.32387	N	0.369	0.42931	-1.0477	0.15045	T	0.032	0.13548	T	10	0.026234835	0.00795	T	0.001257	0.01708	T	0.061	0.17616	.	.	0.101711395817	0.09552	0.34399031918310885	0.34313	0.00346480532179	0.00296	0.568508863449	0.48467	T	0.066151	0.32870	T	-0.516452	0.00461	T	-0.560175	0.16359	T	0.00385100617712939	0.00041	T	0.373463	0.08871	T	0.19450532	0.41203	0.10661282	0.25653	0.19450532	0.41203	0.10661282	0.25652	-5.235	0.39295	T	.	.	0.130	0.27851	B	.;.	.;.	1.245230	0.16411	12.52	0.87107969268407048	0.16993	0.03952	0.09354	N	AEFBI	0.028577	0.02542	N	-0.549153971260669	0.20510	1.08175	-0.766212382557134	0.15325	0.8053918	7.94008781674638E-5	0.04552	0.623552	0.39893	0	0.573888	0.26702	0	0.667671	0.60360	0	0.567892	0.33627	0	.	.	1.38	0.296	0.15006	0.377000	0.20282	-0.632000	0.08120	0.453000	0.21368	0.027000	0.20232	0.000000	0.08366	0.010000	0.09038	0.2467:0.0:0.7533:0.0	4.093	0.09454	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1969.33	126	chr20	23750833	.	G	T	1969.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.474;DP=1448;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.53;MQRankSum=-7.691;QD=14.81;ReadPosRankSum=-0.936;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,53:133:99:0|1:23750828_G_A:1983,0,3196:23750828	18	0	1	0
chr20	23750851	23750851	T	A	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.A16T:p.S6C	.	408	1106	8	0	0	8	0.0036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00119544460621	0.0006	0.000798722	0.0007	0.0001	0.0003	0	0	0.0009	0.0024	0.0012	0.0005757	89	154602	rs143142026	0.0006	0.0007	0.0006	0.0007	0.0028	0.0006	0.0006	0.0017	0.0014	0.0001	0.0002	0.0011	5.042e-05	0.0002	0.0028	0.0006	0.0007	0.0008	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0006	0.0005	0.0001	0	6.535e-05	0.0009	0.0004	9.413e-05	0.0136	0.0007	0.0005	0.0006	0.193	0.20912	T	0.19	0.28482	T	0.0	0.02946	B	0.0	0.01387	B	0.340928	0.13964	N	0.703773	1	0.08975	N	-0.715	0.01801	N	3.13	0.08014	T	0.57	0.02638	N	0.078	0.07125	-0.9645	0.38310	T	0.009	0.03359	T	10	0.008056223	0.00183	T	0.001195	0.01533	T	0.013	0.01715	.	.	0.0297737177859	0.01360	0.2184328436087238	0.21759	0.00346480532179	0.00296	0.550261557102	0.45895	T	0.015747	0.13146	T	-0.670961	0.00054	T	-0.804042	0.01803	T	0.00189745476851451	0.00019	T	0.279272	0.04852	T	0.04289028	0.06586	0.03689424	0.03230	0.04289028	0.06586	0.03689424	0.03229	-5.218	0.39124	T	.	.	0.056	0.00461	B	.;.	.;.	-0.688328	0.01347	0.075	0.36362495177186138	0.02335	0.00172	0.01016	N	AEFBI	0.016874	0.00407	N	-1.70873522177234	0.00811	0.0350722	-1.76582532263667	0.00875	0.03911144	9.34048683934066E-5	0.04910	0.615465	0.37627	0	0.573888	0.26702	0	0.667671	0.60360	0	0.655142	0.61905	0	.	.	1.38	-1.08	0.09428	-1.614000	0.02160	-5.476000	0.01704	-3.377000	0.00091	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2212:0.0:0.4702:0.3086	2.02	0.03293	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1626.33	126	chr20	23750851	.	T	A	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.595;DP=1428;ExcessHet=0;FS=0.841;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-8.18;QD=14.39;ReadPosRankSum=-0.721;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,44:113:99:0|1:23750828_G_A:1640,0,2765:23750828	18	0	1	0
chr20	23750856	23750856	T	G	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.A11C:p.Y4S	.	407	1107	8	0	0	8	0.00360036	.	.	.	2764648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.000954764657993	.	.	0.0004	0.0001	0.0003	0	0	0.0006	0.0024	0.0003	1.29e-05	2	154602	rs772372352	0.0003	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0015	0.0012	5.988e-05	0.0002	0.0010	5.045e-05	0.0001	0.0024	0.0003	0.0005	0.0003	0.0003	0.0004	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	7.221e-05	0	6.534e-05	0.0009	0	9.414e-05	0.0136	0.0005	0.0005	0.0004	0.365	0.11732	T	0.227	0.25362	T	0.0	0.02946	B	0.0	0.01387	B	0.892372	0.08678	N	0.950640	1	0.08975	N	-0.895	0.01383	N	3.26	0.06681	T	1.39	0.00846	N	0.066	0.04307	-0.9387	0.42822	T	0.008	0.02842	T	10	0.021623433	0.00521	T	9.55E-4	0.00957	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.3379246054040899	0.33705	0.00276857529848	0.00238	0.407945811749	0.26172	T	0.008785	0.08043	T	-0.623337	0.00105	T	-0.772363	0.02691	T	0.0118878275907535	0.00185	T	0.408959	0.10549	T	0.04658838	0.07824	0.03192554	0.01852	0.04658838	0.07824	0.03192554	0.01852	-0.782	0.00788	T	.	.	0.056	0.00461	B	.;.	.;.	-0.463094	0.01987	0.174	0.27515494870714213	0.01369	0.00012	0.00170	N	AEFBI	0.012438	0.00136	N	-1.92980782500958	0.00298	0.01278811	-1.98814669991342	0.00324	0.01432601	2.83568854885797E-4	0.06355	0.615465	0.37627	0	0.573888	0.26702	0	0.667671	0.60360	0	0.655142	0.61905	0	.	.	1.38	-2.77	0.05529	-0.774000	0.04790	-5.515000	0.01691	-1.185000	0.01382	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3683:0.0:0.3788:0.2529	2.077	0.03406	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1461.33	126	chr20	23750856	.	T	G	1461.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=1423;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.7;MQRankSum=-8.576;QD=13.53;ReadPosRankSum=0.201;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,40:108:99:0|1:23750828_G_A:1475,0,2735:23750828	18	0	1	0
chr20	23750859	23750859	T	C	exonic	CST1	.	nonsynonymous SNV	CST1:NM_001898:exon1:c.A8G:p.Q3R	.	408	1106	8	0	0	8	0.0036036	.	.	.	3245950	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.00139727705585	.	.	0.0006	0.0001	0.0005	0	0	0.0008	0.0032	0.0005	1.29e-05	2	154602	rs776620783	0.0004	0.0005	0.0004	0.0004	0.0028	0.0004	0.0003	0.0018	0.0014	9.004e-05	0.0003	0.0010	5.054e-05	0.0001	0.0028	0.0004	0.0006	0.0004	0.0004	0.0005	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0003	9.63e-05	0	0.0004	0.0006	0	9.413e-05	0.0136	0.0005	0.0014	0.0006	0.799	0.03125	T	0.794	0.04142	T	0.016	0.17332	B	0.004	0.10090	B	0.046406	0.01959	N	2.854450	1	0.08975	N	-0.665	0.02058	N	3.28	0.06523	T	0.02	0.06739	N	0.038	0.01658	-0.9541	0.40256	T	0.008	0.02926	T	10	0.017624557	0.00378	T	0.001397	0.02062	T	0.004	0.00165	.	.	0.0401082797425	0.02173	0.12296962277804015	0.12222	0.0033011964445	0.00282	0.403690457344	0.25582	T	0.007974	0.07338	T	-0.692475	0.00040	T	-0.872785	0.00716	T	0.00375703664831844	0.00040	T	0.162284	0.01468	T	0.025980104	0.01598	0.028780734	0.01146	0.025980104	0.01597	0.028780734	0.01146	-1.961	0.03037	T	.	.	0.053	0.00269	B	.;.	.;.	-0.803279	0.01100	0.049	0.18941490666172831	0.00618	0.00021	0.00226	N	AEFBI	0.015135	0.00274	N	-2.40604054364407	0.00026	0.001133445	-2.4816404248532	0.00025	0.001127038	0.809698396723169	0.24333	0.615465	0.37627	0	0.573888	0.26702	0	0.667671	0.60360	0	0.655142	0.61905	0	.	.	1.38	-2.77	0.05529	-4.641000	0.00236	-13.851000	0.00435	-4.825000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1423:0.3742:0.2128:0.2707	1.293	0.01939	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1254.33	45	chr20	23750859	.	T	C	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.483;DP=969;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-8.8;QD=12.3;ReadPosRankSum=1.32;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,35:102:99:0|1:23750828_G_A:1268,0,2708:23750828	18	0	1	0
chr20	25675129	25675129	C	T	exonic	ZNF337	.	nonsynonymous SNV	ZNF337:NM_001290261:exon4:c.G2159A:p.R720Q,ZNF337:NM_015655:exon5:c.G2159A:p.R720Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0068	0.00658946	0.0019	0.0216	0.0004	0	0	4.496e-05	0	6.056e-05	0.0018046	279	154602	rs35755622	0.0006	0.0006	0.0007	0.0005	0.0212	0.0006	0.0006	0.0199	0.0194	0.0212	0.0006	3.826e-05	0	0	0.0014	5.486e-05	0.0015	3.478e-05	0.0053	0.0053	0.0053	0.0053	0.0189	0.0050	0.0049	0.0178	0.0173	0.0189	0	0.0008	0	0	0	0.0068	4.41e-05	0.0033	0	0.005	0.63226	D	0.004	0.74150	D	0.375	0.34209	B	0.024	0.20255	B	.	.	.	.	0.999997	0.08975	N	1.435	0.35949	L	2.18	0.18875	T	-1.13	0.29114	N	0.173	0.18920	-1.0402	0.17253	T	0.014	0.05608	T	9	0.0027193725	0.00042	T	.	.	.	0.040	0.10527	.	.	0.242825505644	0.23883	0.018576244144797138	0.01811	0.236008608382	0.26139	0.272094726562	0.06416	T	0.005281	0.04730	T	-0.630363	0.00095	T	-0.661993	0.08132	T	0.0334745109723438	0.02549	T	0.847515	0.52873	T	0.045550678	0.07475	0.0495748	0.07604	0.045550678	0.07474	0.0495748	0.07603	-5.351	0.40445	T	.	.	0.129	0.28348	B	.;.	.;.	2.666017	0.34745	19.71	0.99794863729858374	0.88017	0.05058	0.10848	N	AEFBCI	0.016368	0.00364	N	-0.900102105817737	0.10840	0.520025	-1.01853527365864	0.09378	0.4662114	0.671141920109219	0.22376	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	1.31	-0.974	0.09767	-0.275000	0.08557	-3.618000	0.02653	-0.334000	0.05750	0.014000	0.18986	0.000000	0.08366	0.005000	0.06747	0.0:0.4118:0.0:0.5882	5.024	0.13716	730	0.54327	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	0.004028	0.010101	0.006793	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	2738.33	34	chr20	25675129	.	C	T	2738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.216;DP=843;ExcessHet=0;FS=1.732;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.44;SOR=0.554	GT:AD:DP:GQ:PL	0/1:98,111:209:99:2752,0,2392	18	0	1	0
chr20	31934705	31934705	C	T	exonic	TTLL9	.	nonsynonymous SNV	TTLL9:NM_001367620:exon9:c.C527T:p.T176M,TTLL9:NM_001008409:exon12:c.C821T:p.T274M	.	429	1036	56	1	0	58	0.02723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0039	0.00399361	0.0053	0.0010	0.0021	0	0.0005	0.0047	0.0074	0.0180	0.0046959	726	154602	rs200691468	0.0047	0.0047	0.0044	0.0050	0.0164	0.0046	0.0046	0.0157	0.0154	0.0004	0.0029	0.0040	2.52e-05	0.0009	0.0113	0.0043	0.0047	0.0164	0.0036	0.0036	0.0034	0.0038	0.0176	0.0033	0.0032	0.0146	0.0135	0.0008	0	0.0054	0.0029	0	0.0008	0.0102	0.0046	0.0052	0.0176	0.108	0.29420	T	0.216	0.29249	T	0.001	0.07471	B	0.002	0.06944	B	0.001119	0.40219	N	0.283944	1	0.81001	D	1.43	0.35840	L	3.27	0.06602	T	-0.61	0.18042	N	0.158	0.19190	-1.0497	0.14481	T	0.022	0.09467	T	10	0.0064346194	0.00146	T	.	.	.	0.024	0.04979	.	.	0.0297737177859	0.01360	0.2951237345348873	0.29425	0.122821276038	0.13838	0.521163880825	0.41790	T	0.058118	0.30755	T	-0.594801	0.00157	T	-0.613541	0.11699	T	0.0106329223297711	0.00149	T	0.441356	0.15758	T	0.026107183	0.01626	0.050683945	0.08003	0.026107183	0.01626	0.050683945	0.08003	4.277	0.00007	T	.	.	0.061	0.01126	B	.;.;.	.;.;.	2.420018	0.31114	18.64	0.97587682729551706	0.34775	0.30085	0.23991	N	AEFDBI	0.089796	0.18201	N	-0.472294161085949	0.22991	1.231543	-0.345653793126946	0.26643	1.473012	0.851944230173689	0.25061	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.09	2.76	0.31527	1.255000	0.32512	3.451000	0.38447	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.2354:0.0:0.7646	8.488	0.32245	555	0.71762	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010121	0.005102	0.005435	0.002941	0.050000	0.025862	0.021605	0.000000	0.05263	1594.83	33	chr20	31934705	.	C	T	1594.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.28;DP=665;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=1.26;SOR=0.61	GT:AD:DP:GQ:PL	0/1:16,35:51:99:1024,0,415	17	0	2	0
chr20	34077095	34077095	-	GGCAGTGGTGGTGGC	exonic	RALY	.	nonframeshift insertion	RALY:NM_007367:exon7:c.678_679insGGCAGTGGTGGTGGC:p.G232_G233insSGGGG,RALY:NM_016732:exon8:c.726_727insGGCAGTGGTGGTGGC:p.G248_G249insSGGGG	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.887e-07	6.849e-07	1.369e-06	0	9.032e-07	0	0	.	.	0	0	0	0	0	0	9.032e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1680.29	105	chr20	34077095	.	T	TGGCAGTGGTGGTGGC	1680.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=888;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=-1.226;SOR=0.616	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1694,0,1859	18	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:88,66:160:99:514,0,1292	2	0	17	0
chr20	35547502	35547502	T	C	exonic	ERGIC3	.	nonsynonymous SNV	ERGIC3:NM_015966:exon5:c.T458C:p.I153T,ERGIC3:NM_198398:exon5:c.T458C:p.I153T	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00990830952827	0.0012	0.000199681	0.0012	0	0.0002	0	0	0.0018	0.0045	0.0008	0.0010931	169	154602	rs142274713	0.0008	0.0008	0.0008	0.0009	0.0024	0.0008	0.0008	0.0015	0.0012	5.974e-05	0.0003	0.0256	0	0	0.0024	0.0002	0.0027	0.0008	0.0011	0.0011	0.0011	0.0010	0.0008	0.0009	0.0009	0.0004	0.0003	2.409e-05	0	0.0007	0.0308	0	0	0.0068	0.0005	0.0038	0.0008	0.587	0.05862	T	0.571	0.08777	T	0.033	0.20350	B	0.026	0.20792	B	0.001746	0.38106	N	0.262081	0.985874	0.40347	D	0.99	0.25021	L	1.03	0.40469	T	-0.52	0.21429	N	0.589	0.60918	-1.0290	0.20778	T	0.107	0.38955	T	10	0.007498175	0.00170	T	0.009908	0.25811	T	0.139	0.37390	.	.	0.695407094849	0.69278	0.26190116897629406	0.26104	0.686437736936	0.60330	0.592793703079	0.51889	T	0.030563	0.21635	T	-0.366103	0.03796	T	-0.380441	0.35669	T	0.0271828729148389	0.01570	T	0.916008	0.92042	D	0.040890977	0.05922	0.048959766	0.07382	0.040890977	0.05921	0.048959766	0.07382	-2.0	0.03181	T	.	.	0.155	0.46354	B	.;.;.	.;.;.	2.882806	0.38153	20.7	0.86047667283514762	0.16279	0.99058	0.90610	D	AEFDBHI	0.869354	0.78984	D	0.131869886628647	0.47955	3.014056	0.227592926014857	0.51383	3.321382	0.99938587036908	0.39415	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.7	3.57	0.40014	5.715000	0.68081	4.168000	0.42254	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.1651:0.8349	11.125	0.47538	489	0.76795	Endoplasmic reticulum vesicle transporter, C-terminal;.;Endoplasmic reticulum vesicle transporter, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1231.33	35	chr20	35547502	.	T	C	1231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.748;DP=766;ExcessHet=0;FS=5.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=-0.17;SOR=0.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,44:70:99:0|1:35547502_T_C:1245,0,696:35547502	18	0	1	0
chr20	36446779	36446779	C	T	exonic	DLGAP4	.	nonsynonymous SNV	DLGAP4:NM_001365621:exon7:c.C1490T:p.T497M,DLGAP4:NM_014902:exon7:c.C1490T:p.T497M	.	432	1082	8	0	0	8	0.00368324	.	.	.	2286454	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0920834244022	0.0002	0.000199681	0.0002	0	0.0004	0	0	0.0003	0	0.0001	0.000207	32	154602	rs192489219	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0002	0.0046	0.0041	0.0002	0.0006	0	0	0	0.0062	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.695e-05	0.0002	0.0001	7.216e-05	0	0.0004	0	0	0	0.0034	0.0002	0	0.0002	0.003	0.72154	D	0.071	0.44106	T	0.008	0.14655	B	0.003	0.08700	B	0.007455	0.31390	N	0.365553	0.997501	0.22632	N	-0.895	0.01383	N	-2.51	0.89293	D	-0.89	0.24460	N	0.254	0.28732	-0.6641	0.62095	T	0.306	0.67685	T	10	0.04709211	0.03983	T	0.092083	0.75825	D	0.357	0.67782	.	.	0.708804461636	0.70626	0.2868838773768702	0.28601	0.560121123074	0.52549	0.361344277859	0.19581	T	0.031847	0.22228	T	-0.173202	0.24752	T	-0.152419	0.59029	T	0.047667719182149	0.05085	T	0.948505	0.80194	D	0.063621186	0.13416	0.06806646	0.14166	0.063621186	0.13416	0.06806646	0.14166	-6.585	0.51388	T	.	.	0.087	0.14568	B	.;.;.;.	.;.;.;.	3.020568	0.40428	21.2	0.98711629417181601	0.45069	0.66660	0.33155	D	AEFDGBCI	0.178844	0.30612	N	-0.519810980954055	0.21440	1.137831	-0.314450779623496	0.27632	1.534635	0.998803929957331	0.37711	0.643511	0.44296	0	0.610034	0.51514	0	0.688494	0.62686	0	0.542086	0.14980	0	.	.	5.66	3.53	0.39533	2.247000	0.42803	4.002000	0.41083	0.599000	0.40250	0.975000	0.34726	1.000000	0.68203	0.624000	0.32000	0.0:0.7098:0.0:0.2902	6.841	0.23145	564	0.70960	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.011696	0.000000	0.008621	0.003049	0.000000	0.02632	957.33	33	chr20	36446779	.	C	T	957.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=736;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.507;SOR=0.688	GT:AD:DP:GQ:PL	0/1:62,37:99:99:971,0,1546	18	0	1	0
chr20	41362193	41362193	C	T	exonic	EMILIN3	.	nonsynonymous SNV	EMILIN3:NM_052846:exon4:c.G1376A:p.G459E	.	434	1045	38	4	1	47	0.0215356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0016	0.0105831	0.0065	0.0019	0.0178	0.0145	0	0.0021	0.0090	0.0180	0.006203	959	154602	rs2235591	0.0045	0.0045	0.0041	0.0048	0.0321	0.0044	0.0043	0.0306	0.0300	0.0008	0.0178	0.0013	0.0321	0	0.0097	0.0022	0.0056	0.0182	0.0042	0.0042	0.0039	0.0045	0.0199	0.0039	0.0038	0.0168	0.0156	0.0012	0	0.0147	0.0020	0.0199	0	0.0068	0.0021	0.0104	0.0182	1.0	0.00964	T	0.17	0.30436	T	0.883	0.48537	P	0.36	0.43183	B	0.569009	0.11258	N	0.787443	1	0.08975	N	1.78	0.46185	L	2.6	0.13204	T	-1.03	0.27052	N	0.126	0.11912	-1.0395	0.17465	T	0.016	0.06616	T	9	0.0035164952	0.00063	T	.	.	.	0.087	0.25287	.	.	0.274366138417	0.27033	0.4090357898995136	0.40819	0.194200511898	0.21755	0.307287752628	0.11497	T	0.005593	0.05042	T	-0.64763	0.00075	T	-0.688115	0.06498	T	0.0123370872206633	0.00200	T	0.462854	0.13445	T	0.050630543	0.09178	0.059650447	0.11231	0.050630543	0.09177	0.059650447	0.11231	-3.756	0.20149	T	.	.	0.069	0.03231	B	.	.	1.182456	0.15731	12.06	0.88620130383890861	0.18120	0.15972	0.19170	N	AEFDBCI	0.129058	0.24707	N	-0.63572866531942	0.17878	0.9237465	-0.781991029340394	0.14937	0.7830685	0.032117950665719	0.14038	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.96	0.116	0.13953	0.103000	0.15128	1.404000	0.26222	-0.216000	0.08207	0.000000	0.06391	0.023000	0.20922	0.214000	0.22296	0.1633:0.5833:0.0:0.2535	7.074	0.24370	950	0.11238	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.005435	0.005848	0.000000	0.000000	0.012195	0.022727	0.07895	6236.79	73	chr20	41362193	.	C	T	6236.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.93;DP=1211;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.886;SOR=0.716	GT:AD:DP:GQ:PL	0/1:50,94:144:99:2733,0,1271	16	0	3	0
chr20	41412188	41412188	C	T	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon36:c.G7207A:p.G2403R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0156994303729	.	0.000399361	0.0002	0	0	0.0017	0	7.493e-05	0	6.057e-05	0.0001682	26	154602	rs559255385	4.31e-05	4.309e-05	4.628e-05	3.988e-05	0.0005	3.442e-05	3.129e-05	0.0003	0.0003	2.987e-05	4.472e-05	0	0.0005	1.872e-05	0.0002	2.248e-05	0.0002	2.319e-05	3.938e-05	3.937e-05	1.284e-05	6.711e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	0.856	0.47190	P	0.223	0.37929	B	0.008488	0.30815	N	0.231176	0.999977	0.53665	D	1.975	0.53506	M	0.7	0.51474	T	-6.12	0.90060	D	0.725	0.72656	-0.8832	0.49505	T	0.117	0.41165	T	10	0.21770427	0.38391	T	0.015699	0.36577	T	0.340	0.66202	0.598	0.72862	0.817288709795	0.81556	0.5810159046359168	0.58030	0.373155265943	0.38788	0.659722566605	0.61370	T	0.698133	0.91283	D	-0.0745841	0.40591	T	0.074537	0.75213	D	0.261900437384309	0.23398	T	0.942406	0.78384	D	0.62148833	0.73843	0.619446	0.77836	0.62148833	0.73844	0.619446	0.77837	-3.685	0.19097	T	.	.	0.399	0.59539	A	.	.	4.329096	0.66320	24.9	0.99935760443597199	0.99579	0.95904	0.66656	D	AEFDBCI	0.704062	0.65990	D	0.340306125815627	0.58228	3.994049	0.388274368401819	0.60842	4.276413	0.999999999986862	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.25	4.31	0.50718	5.650000	0.67618	4.018000	0.41224	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.976000	0.56436	0.0:0.9268:0.0:0.0732	13.889	0.63226	943	0.12886	BRK domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	887.33	34	chr20	41412188	.	C	T	887.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.43;SOR=0.658	GT:AD:DP:GQ:PL	0/1:39,34:73:99:901,0,928	18	0	1	0
chr20	45208254	45208257	AGAG	-	exonic	SEMG1	.	frameshift deletion	SEMG1:NM_003007:exon2:c.957_960del:p.E320Kfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274656701	2.745e-06	0.0009	2.731e-06	2.76e-06	9.017e-07	6.4e-07	4.3e-07	.	.	0	0	0.0001	0	0	0	9.017e-07	0	0	0.0005	0.0016	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0004	0.0005	0	0.0004	0.0012	0	0.0005	0	0.0005	0.0010	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	119.29	84	chr20	45208253	.	AAGAG	A	119.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.04;DP=985;ExcessHet=0;FS=1.264;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.61;MQRankSum=-6.041;QD=1.2;ReadPosRankSum=-4.206;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,10:99:99:0|1:45208231_A_C:133,0,3701:45208231	18	0	1	0
chr20	45208262	45208262	-	T	exonic	SEMG1	.	frameshift insertion	SEMG1:NM_003007:exon2:c.965_966insT:p.Q323Tfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	0.0005	1.367e-06	1.381e-06	9.022e-07	2.3e-07	9e-08	.	.	0	0	3.939e-05	0	0	0	9.022e-07	0	0	0.0002	0.0006	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	9.725e-05	0.0002	0	0.0001	0.0013	0	0.0002	0	0.0002	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	63.29	80	chr20	45208262	.	C	CT	63.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.55;DP=971;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.59;MQRankSum=-6.644;QD=0.67;ReadPosRankSum=-3.509;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,8:94:77:0|1:45208231_A_C:77,0,3572:45208231	18	0	1	0
chr20	45208263	45208263	-	GTAG	exonic	SEMG1	.	frameshift insertion	SEMG1:NM_003007:exon2:c.966_967insGTAG:p.Q323Vfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	0.0005	0	1.379e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0.0002	0.0006	0.0002	0.0001	0.0006	0.0001	8.759e-05	0.0002	9.13e-05	9.69e-05	0	6.57e-05	0.0009	0	9.441e-05	0	0.0001	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	66.29	67	chr20	45208263	.	A	AGTAG	66.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.4;DP=931;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.58;MQRankSum=-6.607;QD=0.71;ReadPosRankSum=-3.073;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,8:93:80:0|1:45208231_A_C:80,0,3530:45208231	18	0	1	0
chr20	46067113	46067113	G	C	exonic	NCOA5	.	nonsynonymous SNV	NCOA5:NM_001348148:exon4:c.C256G:p.R86G,NCOA5:NM_001348151:exon4:c.C256G:p.R86G,NCOA5:NM_001348149:exon5:c.C571G:p.R191G,NCOA5:NM_020967:exon5:c.C571G:p.R191G,NCOA5:NM_001348150:exon6:c.C382G:p.R128G	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0294512468853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.05	0.48080	T	0.998	0.73220	D	0.965	0.71173	D	0.000002	0.62929	D	0.102047	0.999998	0.58761	D	2.25	0.63811	M	0.61	0.53516	T	-2.07	0.90568	N	0.837	0.83269	-0.7297	0.58979	T	0.237	0.60427	T	10	0.723825	0.73839	D	0.029451	0.51955	D	0.276	0.59253	0.453	0.51612	0.479604954264	0.47592	0.7954028045482863	0.79493	1.25539820539	0.81888	0.7680529356	0.77133	T	0.067249	0.49655	T	0.168763	0.71009	D	0.00463944	0.70636	D	0.977545559406281	0.71895	D	0.937106	0.77406	D	0.28376675	0.51407	0.23786122	0.49095	0.28376675	0.51407	0.23786122	0.49094	-12.97	0.89239	D	.	.	0.561	0.81500	A	.;.	.;.	5.023228	0.83496	28.1	0.99897371377497135	0.96971	0.99280	0.93881	D	AEFBI	0.918406	0.88741	D	0.753719619500123	0.83147	7.941695	0.759205056477787	0.86844	9.021096	0.999897336735067	0.45129	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	7.778000	0.84271	11.476000	0.92875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.8423:0.1577	13.321	0.59872	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1455.33	35	chr20	46067113	.	G	C	1455.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.918;DP=787;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.668;SOR=0.451	GT:AD:DP:GQ:PL	0/1:69,61:130:99:1469,0,1606	18	0	1	0
chr20	50608696	50608696	G	A	exonic	RIPOR3	.	nonsynonymous SNV	RIPOR3:NM_001290268:exon10:c.C727T:p.R243W,RIPOR3:NM_080829:exon10:c.C715T:p.R239W	.	417	1092	13	0	0	13	0.00591716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	0.0030	0.00299521	0.0015	0.0089	0.0011	0	0.0006	0.0006	0.0033	0.0018	0.0014036	217	154602	rs146608853	0.0007	0.0007	0.0007	0.0008	0.0074	0.0007	0.0007	0.0067	0.0064	0.0074	0.0012	0.0003	2.519e-05	0.0003	0.0054	0.0004	0.0011	0.0024	0.0029	0.0029	0.0030	0.0028	0.0086	0.0027	0.0026	0.0078	0.0075	0.0086	0	0.0012	0	0.0002	0	0.0068	0.0007	0.0043	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000038	0.55875	D	0.113950	0.999355	0.46766	D	.	.	.	4.24	0.02590	T	-6.45	0.91395	D	0.539	0.56662	-1.1321	0.01684	T	0.017	0.07092	T	10	0.014628202	0.00307	T	.	.	.	0.194	0.47447	.	.	0.188950314367	0.18478	0.7456769486626577	0.74513	0.147208149037	0.16604	0.401348888874	0.25256	T	0.23984	0.60804	T	-0.386566	0.02830	T	-0.32222	0.42332	T	0.0610925249243361	0.07339	T	0.90041	0.65400	D	0.66904294	0.76382	0.482499	0.70036	0.66904294	0.76383	0.482499	0.70036	-9.648	0.71778	D	.	.	0.178	0.38889	B	.;.	.;.	4.965140	0.82122	27.7	0.99852357759980759	0.93191	0.71609	0.35087	D	AEFBI	0.742646	0.68620	D	0.0389342769538542	0.43635	2.652567	-0.0476691694940398	0.37592	2.203088	8.56114553760182E-4	0.07917	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.08	1.68	0.23219	2.438000	0.44495	2.906000	0.35479	-0.279000	0.06446	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.0:0.3068:0.6932	12.240	0.53852	972	0.05671	FAM65, N-terminal;FAM65, 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	0.002520	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1270.33	36	chr20	50608696	.	G	A	1270.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=736;ExcessHet=0;FS=2.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.318;SOR=0.697	GT:AD:DP:GQ:PL	0/1:46,45:91:99:1284,0,1143	18	0	1	0
chr20	51516833	51516833	C	T	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223A:p.G408D,NFATC2:NM_001258292:exon3:c.G1223A:p.G408D,NFATC2:NM_001258294:exon3:c.G626A:p.G209D,NFATC2:NM_001258295:exon3:c.G626A:p.G209D,NFATC2:NM_001258296:exon3:c.G626A:p.G209D,NFATC2:NM_001258297:exon3:c.G626A:p.G209D,NFATC2:NM_012340:exon3:c.G1283A:p.G428D,NFATC2:NM_173091:exon3:c.G1283A:p.G428D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.893	0.262073555344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	2.056e-06	0	1.383e-06	9.057e-07	0	0	.	.	0	0	0	0	0	0	9.057e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.7	0.72785	T	-6.5	0.91609	D	0.94	0.95608	0.381	0.88810	D	0.611	0.86246	D	10	0.9135088	0.90714	D	0.262074	0.89547	D	0.893	0.96947	0.711	0.84691	0.919610210409	0.91879	0.8600597117562743	0.85969	1.36751619527	0.84468	0.868866324425	0.92406	D	0.671936	0.90273	D	0.38892	0.89260	D	0.32088	0.89126	D	0.997196435928345	0.90986	D	0.999049	0.99552	D	0.9028719	0.91642	0.8530377	0.91708	0.9028719	0.91643	0.8530377	0.91709	-13.698	0.92426	D	.	.	1.000	0.99795	P	.;.;.;.;.;.	.;.;.;.;.;.	5.517230	0.91744	32	0.99867588980001254	0.94547	0.98253	0.80960	D	AEFDBHI	0.905011	0.85599	D	0.910254360952043	0.92253	11.31834	0.843558426454481	0.92633	11.54079	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	292.43	34	chr20	51516833	.	C	T	292.43	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.143;DP=1350;ExcessHet=2.0135;FS=168.437;InbreedingCoeff=-0.1676;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.884;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,13:71:86:.:.:86,0,1755:.	18	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding 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	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,13:68:94:.:.:94,0,1702:.	4	0	11	4
chr20	53569201	53569201	C	T	exonic	ZNF217	.	nonsynonymous SNV	ZNF217:NM_001385034:exon5:c.G3101A:p.R1034Q	.	443	1031	46	2	0	50	0.0236742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0049	0.00479233	0.0099	0.0015	0.0072	0.0009	0.0100	0.0107	0.0022	0.0170	0.0046183	714	154602	rs75039525	0.0049	0.0041	0.0045	0.0053	0.0207	0.0048	0.0047	0.0173	0.0160	0.0006	0.0020	0.0001	0.0002	0.0068	0.0207	0.0043	0.0056	0.0139	0.0037	0.0037	0.0035	0.0039	0.0131	0.0034	0.0033	0.0105	0.0096	0.0008	0	0.0033	0.0003	0.0006	0.0065	0.0102	0.0048	0.0052	0.0131	0.0	0.91255	D	0.731	0.05146	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-2.99	0.62151	D	.	.	-0.9425	0.42218	T	0.093	0.35336	T	5	0.004605949	0.00096	T	.	.	.	0.077	0.22490	.	.	0.082315109003	0.07666	.	.	.	.	.	.	.	0.090548	0.38608	T	-0.643281	0.00080	T	-0.685129	0.06676	T	0.0355138344568988	0.02896	T	0.417558	0.11011	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17573	B	.	.	0.287449	0.06639	3.137	0.82333282757554527	0.14138	0.07719	0.13720	N	AEFBCI	0.040385	0.06000	N	-0.453351430880905	0.23626	1.270087	-0.570792146065723	0.20256	1.090495	0.988758464126872	0.31617	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.58	-0.552	0.11227	-0.489000	0.06570	-2.316000	0.03909	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.0:0.6539:0.0:0.3461	10.159	0.42013	983	0.02875	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1324.33	35	chr20	53569201	.	C	T	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.4;DP=762;ExcessHet=0;FS=5.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.949;SOR=0.366	GT:AD:DP:GQ:PL	0/1:78,57:135:99:1338,0,1832	18	0	1	0
chr20	61928385	61928385	C	A	exonic	CDH4	.	nonsynonymous SNV	CDH4:NM_001252338:exon11:c.C1856A:p.A619E,CDH4:NM_001252339:exon11:c.C1745A:p.A582E,CDH4:NM_001794:exon12:c.C1967A:p.A656E	.	434	1085	3	0	0	3	0.00138058	.	.	.	2202850	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0188600673724	0.0007	.	0.0004	0	8.703e-05	0	0	0.0006	0	0.0007	0.0003299	51	154602	rs150782695	0.0004	0.0004	0.0004	0.0005	0.0009	0.0004	0.0004	0.0008	0.0007	5.974e-05	0.0002	7.657e-05	0	5.875e-05	0.0003	0.0004	0.0003	0.0009	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	2.412e-05	0	6.543e-05	0	0	0	0	0.0006	0	0.0002	0.409	0.10180	T	0.965	0.03956	T	0.653	0.40782	P	0.209	0.37260	B	0.037720	0.24369	N	0.467778	1	0.08975	N	0.765	0.19305	N	0.23	0.59717	T	-1.36	0.33798	N	0.256	0.29774	-0.9616	0.38877	T	0.163	0.49864	T	9	0.049467087	0.04540	T	0.01886	0.41058	T	0.109	0.30843	.	.	0.55633959054	0.55293	0.3018184127709489	0.30094	.	.	0.350638896227	0.18015	T	0.066307	0.32912	T	-0.41565	0.01824	T	-0.42902	0.30045	T	0.0407535898741781	0.03827	T	0.883612	0.60617	D	0.14554733	0.33360	0.19929965	0.43804	0.149452	0.34071	0.27014008	0.52901	-5.893	0.45375	T	0.2571943331536067	0.34760	0.117	0.24260	B	.;.;.	.;.;.	1.498203	0.19264	14.17	0.68134448534722936	0.08565	0.54755	0.29694	D	AEFDGBI	0.207092	0.33330	N	-0.450777343025857	0.23713	1.275375	-0.54364331287358	0.20974	1.132506	0.970915186234873	0.29245	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.83	3.85	0.43556	0.859000	0.27513	0.575000	0.19646	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.8552:0.1448:0.0	14.849	0.69914	940	0.13648	Cadherin-like;Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1982.33	48	chr20	61928385	.	C	A	1982.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.28;DP=843;ExcessHet=0;FS=3.417;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.623;SOR=1.075	GT:AD:DP:GQ:PL	0/1:72,65:137:99:1996,0,1678	18	0	1	0
chr20	62475296	62475296	C	A	exonic	GATA5	.	nonsynonymous SNV	GATA5:NM_080473:exon2:c.G226T:p.G76C	.	410	1111	1	0	0	1	0.000449843	.	.	.	2412563	Congenital_heart_defects,_multiple_types,_5	MONDO:MONDO:0060663,MedGen:C4693563,OMIM:617912	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.445	0.988195257173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868924022	2.745e-06	3.421e-06	5.219e-06	0	0.0008	7.3e-07	2e-07	0.0002	0.0001	0	0	0	0	0	0.0008	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.062	0.45318	T	0.997	0.70673	D	0.925	0.65999	D	0.017653	0.27670	U	0.251298	1	0.08975	N	2.33	0.66821	M	-4.88	0.98296	D	-1.45	0.35597	N	0.188	0.20528	0.568	0.91469	D	0.922	0.97433	D	10	0.58292025	0.65950	D	0.988195	0.99951	D	0.445	0.74727	0.544	0.65731	0.968538468145	0.96819	0.3841913289139146	0.38334	2.44015564342	0.97316	0.897138595581	0.96116	D	0.718376	0.92021	D	0.139351	0.68264	D	-0.0376082	0.67862	D	0.603046590705741	0.36521	D	0.835416	0.50550	T	0.119996175	0.28245	0.08343687	0.19121	0.119996175	0.28245	0.08343687	0.19121	-4.903	0.35769	T	0.8019735478090587	0.87855	0.126	0.26700	B	.	.	3.886265	0.56514	23.7	0.99259859647962878	0.57188	0.69838	0.34347	D	AEFDBHCI	0.326273	0.42760	N	0.0676747300977212	0.44960	2.760626	-0.0910268316959593	0.35761	2.072728	0.999935759860552	0.46732	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.88	2.6	0.30173	0.521000	0.22601	0.507000	0.19047	0.524000	0.24156	0.429000	0.26401	0.380000	0.24611	0.033000	0.13494	0.0:0.3505:0.291:0.3586	2.330	0.03973	839	0.37672	GATA-type transcription activator, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1324.33	36	chr20	62475296	.	C	A	1324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.988;DP=774;ExcessHet=0;FS=1.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.137;SOR=0.491	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1338,0,1280	18	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	6450.83	34	chr21	13610400	.	A	G	6450.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.016;DP=1265;ExcessHet=0.119;FS=1.1;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.99;MQRankSum=0.512;QD=10.99;ReadPosRankSum=-0.551;SOR=0.72	GT:AD:DP:GQ:PL	0/1:151,132:283:99:3002,0,3980	17	0	2	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:178,142:320:99:3818,0,4477	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:157,99:256:99:2470,0,4162	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:93,84:177:99:1829,0,2524	3	5	11	0
chr21	17796644	17796646	TCT	-	exonic	C21orf91	.	nonframeshift deletion	C21orf91:NM_001100420:exon3:c.600_602del:p.E201del,C21orf91:NM_001100421:exon3:c.600_602del:p.E201del,C21orf91:NM_017447:exon3:c.600_602del:p.E201del	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	0	0.0001	0	1.499e-05	0	0	1.29e-05	2	154602	rs771502455	7.525e-06	7.525e-06	8.168e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	6.512e-05	4.45e-05	0	0	0	0.0002	1.872e-05	0.0002	2.698e-06	0	0	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	6.83e-05	2.858e-05	0	0	0	0	0.0004	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1947.29	33	chr21	17796643	.	CTCT	C	1947.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=755;ExcessHet=0;FS=8.945;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=1.36;SOR=0.255	GT:AD:DP:GQ:PL	0/1:71,52:123:99:1961,0,2795	18	0	1	0
chr21	39423019	39423019	G	C	exonic	LCA5L	.	nonsynonymous SNV	LCA5L:NM_001384292:exon3:c.C404G:p.S135C,LCA5L:NM_001384294:exon3:c.C404G:p.S135C,LCA5L:NM_001384311:exon3:c.C404G:p.S135C,LCA5L:NM_001384295:exon4:c.C404G:p.S135C,LCA5L:NM_001384296:exon4:c.C404G:p.S135C,LCA5L:NM_001384304:exon4:c.C404G:p.S135C,LCA5L:NM_001384306:exon4:c.C404G:p.S135C,LCA5L:NM_001384307:exon4:c.C404G:p.S135C,LCA5L:NM_001384308:exon4:c.C404G:p.S135C,LCA5L:NM_001384309:exon4:c.C404G:p.S135C,LCA5L:NM_001384312:exon4:c.C404G:p.S135C,LCA5L:NM_001384285:exon5:c.C794G:p.S265C,LCA5L:NM_001384286:exon5:c.C794G:p.S265C,LCA5L:NM_001384287:exon5:c.C794G:p.S265C,LCA5L:NM_001384289:exon5:c.C794G:p.S265C,LCA5L:NM_001384291:exon5:c.C794G:p.S265C,LCA5L:NM_001384293:exon5:c.C404G:p.S135C,LCA5L:NM_001384298:exon5:c.C794G:p.S265C,LCA5L:NM_001384302:exon5:c.C794G:p.S265C,LCA5L:NM_001384303:exon5:c.C404G:p.S135C,LCA5L:NM_001384305:exon5:c.C404G:p.S135C,LCA5L:NM_001384310:exon5:c.C404G:p.S135C,LCA5L:NM_001384313:exon5:c.C404G:p.S135C,LCA5L:NM_001384288:exon6:c.C794G:p.S265C,LCA5L:NM_001384300:exon6:c.C794G:p.S265C,LCA5L:NM_001384301:exon6:c.C794G:p.S265C,LCA5L:NM_152505:exon6:c.C794G:p.S265C,LCA5L:NM_001384297:exon7:c.C794G:p.S265C,LCA5L:NM_001384299:exon7:c.C794G:p.S265C	.	452	1052	17	1	0	19	0.0089496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0711192466756	0.0046	0.00459265	0.0054	0.0064	0.0079	0	0.0014	0.0062	0.0077	0.0043	0.0052522	812	154602	rs143415723	0.0050	0.0051	0.0051	0.0050	0.0177	0.0049	0.0049	0.0149	0.0139	0.0077	0.0058	0.0088	0	0.0017	0.0177	0.0052	0.0050	0.0043	0.0055	0.0055	0.0054	0.0057	0.0065	0.0052	0.0051	0.0059	0.0056	0.0065	0	0.0050	0.0084	0	0.0021	0.0136	0.0061	0.0076	0.0019	0.027	0.46513	D	0.011	0.64786	D	1.0	0.90584	D	0.939	0.67449	D	0.122150	0.18967	N	0.546917	1	0.08975	N	2.75	0.80375	M	-1.17	0.78199	T	-2.45	0.53577	N	0.319	0.36569	-0.3461	0.73666	T	0.477	0.79940	T	10	0.0043971837	0.00089	T	0.071119	0.71185	D	0.274	0.59007	.	.	0.819326359246	0.81762	0.04914171614576398	0.04857	0.398422057467	0.40901	0.341563373804	0.16672	T	0.127921	0.54569	T	-0.371508	0.03519	T	-0.300872	0.44632	T	0.0428231754674634	0.04205	T	0.691131	0.31676	T	0.17131634	0.37757	0.12516536	0.30160	0.17131634	0.37757	0.12516536	0.30159	-4.173	0.26359	T	.	.	0.151	0.33389	B	.;.;.;.	.;.;.;.	3.668052	0.52141	23.2	0.97883977970749392	0.36621	0.89234	0.49577	D	AEFDBI	0.562037	0.56978	D	0.312320264162313	0.56782	3.843372	0.178086605997455	0.48647	3.077948	0.999997632529466	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.06	4.17	0.48303	4.887000	0.62848	8.514000	0.77400	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.7043:0.2957	12.909	0.57564	941	0.13089	Lebercilin domain;Lebercilin domain;Lebercilin domain;Lebercilin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.015152	0.020380	0.032164	0.000000	0.025862	0.009146	0.003788	0.05263	2754.83	33	chr21	39423019	.	G	C	2754.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.38;DP=824;ExcessHet=0.119;FS=1.758;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.186;SOR=0.832	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1453,0,1778	17	0	2	0
chr21	42447180	42447180	A	G	exonic	UBASH3A	.	nonsynonymous SNV	UBASH3A:NM_001001895:exon14:c.A1858G:p.I620V,UBASH3A:NM_018961:exon15:c.A1972G:p.I658V	.	421	1067	33	1	0	35	0.0161365	.	.	.	742656	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0038	0.00279553	0.0042	0.0007	0.0016	0	0	0.0048	0.0088	0.0095	0.0041073	635	154602	rs148149121	0.0043	0.0043	0.0041	0.0046	0.0149	0.0043	0.0042	0.0124	0.0114	0.0009	0.0021	0.0194	0	0.0001	0.0149	0.0040	0.0052	0.0100	0.0034	0.0034	0.0034	0.0033	0.0108	0.0031	0.0030	0.0084	0.0076	0.0011	0	0.0035	0.0210	0	0.0002	0.0136	0.0040	0.0052	0.0108	0.093	0.33923	T	0.152	0.33554	T	0.0	0.02946	B	0.0	0.01387	B	0.043025	0.23780	N	0.356002	1	0.81001	D	1.555	0.39373	L	3.08	0.08460	T	-0.46	0.15178	N	0.251	0.28381	-0.9208	0.45445	T	0.007	0.02399	T	10	0.0024763644	0.00037	T	.	.	.	0.039	0.10176	.	.	0.33835085245	0.33439	0.2641569883606941	0.26328	0.109189358208	0.12315	0.390287220478	0.23710	T	0.105175	0.41541	T	-0.635169	0.00089	T	-0.677191	0.07156	T	0.0105885998561583	0.00148	T	0.536546	0.18022	T	0.09261947	0.21733	0.06972154	0.14724	0.09261947	0.21733	0.06972154	0.14724	-4.441	0.30109	T	.	.	0.095	0.14797	B	.;.	.;.	1.072182	0.14545	11.11	0.80113903339197989	0.13051	0.59468	0.30924	D	AEFDBI	0.156703	0.28210	N	-0.914647396964375	0.10498	0.5019893	-0.809531213614776	0.14266	0.7444755	0.758839313926418	0.23477	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.633917	0.49826	0	.	.	4.98	1.14	0.19817	0.577000	0.23461	0.873000	0.22330	-0.083000	0.16234	0.988000	0.36536	0.967000	0.29559	0.031000	0.13245	0.4571:0.3086:0.0852:0.149	2.216	0.03717	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	0.014113	0.010101	0.008152	0.020468	0.050000	0.008621	0.018293	0.018939	0.02632	828.33	34	chr21	42447180	.	A	G	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=717;ExcessHet=0;FS=4.427;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=1.6;SOR=0.354	GT:AD:DP:GQ:PL	0/1:52,31:83:99:842,0,1438	18	0	1	0
chr21	44331873	44331873	C	T	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271440:exon5:c.G515A:p.R172Q,CFAP410:NM_001271441:exon5:c.G515A:p.R172Q,CFAP410:NM_004928:exon5:c.G515A:p.R172Q,CFAP410:NM_001271442:exon6:c.G392A:p.R131Q	.	386	1135	1	0	0	1	0.000440335	.	.	.	951264	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00346847198232	.	.	3.604e-05	0	0	0.0001	0	4.882e-05	0	0	2.59e-05	4	154602	rs755005560	3.151e-05	3.215e-05	2.863e-05	3.442e-05	0.0002	2.415e-05	2.16e-05	0.0001	7.232e-05	2.99e-05	0	0	0.0002	1.9e-05	0	3.058e-05	1.658e-05	1.161e-05	3.284e-05	3.283e-05	3.852e-05	2.689e-05	7.348e-05	1.26e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.928	0.05601	T	0.961	0.02542	T	0.0	0.02946	B	0.0	0.01387	B	0.791459	0.06714	N	1.109350	1	0.08975	N	.	.	.	1.78	0.35031	T	1.06	0.02195	N	0.072	0.05037	-0.9664	0.37934	T	0.023	0.09923	T	10	0.036850452	0.02005	T	0.003468	0.07847	T	0.017	0.02790	0.29	0.25081	0.0846915920261	0.08053	0.12526365678307588	0.12452	0.0749600561829	0.08408	.	.	.	0.003	0.02299	T	-0.551297	0.00287	T	-0.803975	0.01805	T	0.0351865022053025	0.02839	T	0.557244	0.20701	T	0.013883715	0.00073	0.027436696	0.00896	0.013883715	0.00073	0.027436696	0.00896	-3.244	0.13302	T	0.07436215464756367	0.03217	0.059	0.00793	B	.;.;.	.;.;.	-0.747886	0.01214	0.060	0.63043342186507467	0.07119	0.00678	0.02913	N	AEFDBHCI	0.028943	0.02643	N	-1.96994506153964	0.00245	0.01051115	-1.98283953069829	0.00333	0.01469438	0.999997353812871	0.74766	0.660377	0.49826	0	0.606735	0.50208	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	4.72	-7.11	0.01389	-2.344000	0.01178	-5.847000	0.01576	-1.582000	0.00918	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1198:0.5291:0.0:0.3511	8.581	0.32790	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	692.33	36	chr21	44331873	.	C	T	692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.537;DP=704;ExcessHet=0;FS=2.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.215;SOR=0.444	GT:AD:DP:GQ:PL	0/1:31,28:59:99:706,0,848	18	0	1	0
chr21	44654562	44654562	G	A	exonic	KRTAP12-4	.	nonsynonymous SNV	KRTAP12-4:NM_198698:exon1:c.C53T:p.P18L	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0052058309485	.	0.000399361	0.0007	0.0004	0.0002	0	0	8.035e-05	0	0.0046	0.0004269	66	154602	rs587731144	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0041	0.0002	0.0001	3.883e-05	0.0002	5.66e-05	0.0007	4.781e-05	0.0002	0.0046	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0027	0.0023	0.0004	0	0.0002	0	0	0	0	5.881e-05	0	0.0041	0.133	0.26409	T	0.073	0.43159	T	0.051	0.22415	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.55	0.01948	T	-2.21	0.49684	N	0.071	0.04426	-0.9211	0.45403	T	0.004	0.01435	T	9	0.006500751	0.00147	T	0.005206	0.13248	T	0.023	0.04649	.	.	0.119812018005	0.11559	0.03536937343418174	0.03483	0.0869547142286	0.09809	0.233238324523	0.02216	T	0.031166	0.21915	T	-0.690232	0.00042	T	-0.764391	0.02957	T	0.0350803277490215	0.02822	T	0.392661	0.09777	T	0.029830875	0.02543	0.041076723	0.04587	0.029830875	0.02542	0.041076723	0.04586	-4.519	0.31136	T	.	.	0.079	0.07130	B	.	.	0.021763	0.04434	1.164	0.97757209041713977	0.35782	0.00089	0.00592	N	AEFDBI	0.021406	0.00950	N	-1.21722287673146	0.04750	0.2150335	-1.30418726676043	0.04376	0.2062551	0.127228588429531	0.17015	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	3.04	-2.59	0.05847	-0.215000	0.09284	-0.972000	0.06742	-0.638000	0.04459	0.003000	0.16062	0.000000	0.08366	0.004000	0.06068	0.4774:0.1804:0.3422:0.0	4.210	0.09962	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1341.33	37	chr21	44654562	.	G	A	1341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.98;ReadPosRankSum=0.345;SOR=0.735	GT:AD:DP:GQ:PL	0/1:32,47:79:99:1355,0,763	18	0	1	0
chr21	44787954	44787954	C	G	exonic	UBE2G2	.	nonsynonymous SNV	UBE2G2:NM_003343:exon3:c.G91C:p.E31Q,UBE2G2:NM_182688:exon4:c.G7C:p.E3Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0314211249263	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.981	0.59675	D	0.882	0.62632	P	0.000001	0.84330	D	0.092911	1	0.81001	D	3.11	0.87757	M	1.12	0.38718	T	-2.62	0.56301	D	0.769	0.76666	-0.4026	0.71945	T	0.285	0.65675	T	10	0.79398346	0.78905	D	0.031421	0.53505	D	0.298	0.61843	0.511	0.60846	0.769516625955	0.76740	0.8037512325420121	0.80329	1.76735228877	0.91241	0.784447729588	0.79600	T	0.212853	0.57400	T	0.0571406	0.59253	T	-0.155698	0.58736	T	0.984980940818787	0.76116	D	0.992401	0.97558	D	0.8669726	0.88624	0.73420763	0.84292	0.8669726	0.88625	0.73420763	0.84293	-9.478	0.70722	D	.	.	0.525	0.65696	A	.;.	.;.	4.516880	0.70779	25.6	0.99818088135550154	0.90150	0.96027	0.67203	D	AEFDBI	0.558437	0.56766	D	0.812082726397847	0.86858	9.021618	0.775752041384853	0.88062	9.443339	0.999999999792068	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	5.215000	0.65074	7.596000	0.61403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.391	0.83373	976	0.04745	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	221.33	40	chr21	44787954	.	C	G	221.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.172;DP=871;ExcessHet=0;FS=157.408;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=2.27;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,25:145:99:0|1:44787949_C_G:235,0,4058:44787949	18	0	1	0
chr21	46145574	46145574	G	A	exonic	FTCD	.	nonsynonymous SNV	FTCD:NM_001320412:exon10:c.C1103T:p.A368V,FTCD:NM_006657:exon10:c.C1103T:p.A368V,FTCD:NM_206965:exon10:c.C1103T:p.A368V	Glutamate formiminotransferase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1670314	Glutamate_formiminotransferase_deficiency	MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.0503262826131	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1033001525	1.299e-05	2.873e-05	1.279e-05	1.319e-05	0.0001	8.12e-06	6.7e-06	3.826e-05	2.268e-05	0	0	0	0.0001	0	0	1.212e-05	0	1.267e-05	6.592e-06	6.569e-06	1.288e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.046	0.46513	D	0.064	0.56192	T	0.564	0.53620	P	0.053	0.32692	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	0.76	0.49919	T	-1.49	0.47683	N	0.5	0.54757	-0.9125	0.46543	T	0.103	0.37969	T	10	0.4463673	0.58422	T	0.050326	0.64194	D	0.253	0.56294	0.662	0.79996	0.52463718601	0.52109	0.738158487145001	0.73760	0.0884928581488	0.10009	0.827162623405	0.86128	D	0.139704	0.47386	T	-0.052156	0.44120	T	-0.312695	0.43369	T	0.296355217695236	0.24852	T	0.957954	0.89432	D	0.156534	0.35320	0.18610793	0.41763	0.156534	0.35319	0.18610793	0.41762	-7.374	0.56721	T	0.3290114730426877	0.42707	0.218	0.46037	B	.;.;.;.	.;.;.;.	3.176590	0.43098	21.7	0.99531899327729789	0.69901	0.89726	0.50377	D	AEFBCI	0.920146	0.89170	D	-0.0669848107567549	0.38847	2.281595	-0.106105890221472	0.35142	2.030	0.999999623802775	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.38	3.5	0.39181	6.565000	0.73866	7.794000	0.68965	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0838:0.0:0.9162:0.0	12.300	0.54187	982	0.03397	Cyclodeaminase/cyclohydrolase;.;Cyclodeaminase/cyclohydrolase;Cyclodeaminase/cyclohydrolase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	891.33	33	chr21	46145574	.	G	A	891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.936;DP=697;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.306;SOR=0.892	GT:AD:DP:GQ:PL	0/1:22,37:59:99:905,0,423	18	0	1	0
chr21	46283820	46283820	G	A	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon2:c.C1238T:p.P413L	.	425	1086	11	0	0	11	0.00503894	.	.	.	1284795	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.113	.	0.0003	0.0177716	0.0092	0.0012	0.0007	0.0032	0	4.497e-05	0.0077	0.0638	0.0082017	1268	154602	rs17182566	0.0040	0.0040	0.0024	0.0057	0.0606	0.0039	0.0039	0.0593	0.0587	0.0016	0.0005	3.826e-05	0.0022	0	0.0023	8.099e-05	0.0061	0.0606	0.0033	0.0033	0.0020	0.0046	0.0737	0.0030	0.0029	0.0674	0.0649	0.0015	0	0.0017	0	0.0054	0	0	8.821e-05	0.0099	0.0737	0.004	0.65419	D	0.003	0.76473	D	0.795	0.44777	P	0.095	0.30245	B	0.000018	0.62929	D	0.118770	0.999993	0.08975	N	2.585	0.75554	M	3.66	0.04228	T	-2.28	0.50830	N	0.124	0.12627	-0.9063	0.47297	T	0.009	0.03315	T	10	0.002065301	0.00029	T	.	.	.	0.113	0.31778	.	.	0.134007934775	0.12933	0.5351870173958186	0.53443	0.0676595727789	0.07564	0.444203019142	0.31151	T	0.316252	0.68780	T	-0.597999	0.00150	T	-0.585424	0.14066	T	0.0262718095973514	0.01443	T	0.713829	0.32570	T	0.12150753	0.28572	0.12732299	0.30651	0.12690529	0.29711	0.12732299	0.30651	-4.919	0.35948	T	.	.	0.083	0.09191	B	.;.	.;.	3.537381	0.49663	22.8	0.98798211935288616	0.46413	0.45009	0.27444	N	AEFDBC	0.297975	0.40742	N	-0.0709624492963428	0.38669	2.268441	-0.0533052028531491	0.37348	2.18553	0.99999691295613	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.27	3.43	0.38372	4.157000	0.57925	7.103000	0.57542	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.559000	0.30388	0.1256:0.0:0.8744:0.0	12.162	0.53412	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.018939	0.02632	1039.33	46	chr21	46283820	.	G	A	1039.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.6;DP=805;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.726;SOR=0.644	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1053,0,857	18	0	1	0
chr22	17542836	17542836	C	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon16:c.C2204A:p.P735Q,CECR2:NM_001290047:exon16:c.C2693A:p.P898Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0203431800649	.	.	1.658e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs574162099	4.105e-06	4.104e-06	2.723e-06	5.502e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000060	0.53742	D	0.000000	0.999486	0.47237	D	2.16	0.60381	M	1.54	0.36146	T	-3.17	0.64363	D	0.508	0.56833	-0.7248	0.59224	T	0.204	0.56224	T	10	0.36061895	0.52702	T	0.020343	0.42915	T	0.160	0.41473	0.161	0.06507	0.58411752329	0.58084	0.43323794229567497	0.43240	.	.	0.423769146204	0.28355	T	0.231858	0.59828	T	-0.0689483	0.41495	T	-0.27317	0.47499	T	0.938785493373871	0.60969	D	0.875612	0.58729	D	0.30619696	0.53455	0.25319907	0.50963	0.30619696	0.53455	0.25319907	0.50962	-2.68	0.07136	T	.	.	0.224	0.48334	B	.;.;.;.	.;.;.;.	4.604801	0.72972	25.9	0.99442383750424079	0.64820	0.96779	0.70894	D	AEFDBI	0.675428	0.64082	D	0.722264431548351	0.81093	7.441909	0.688067088345478	0.81471	7.534737	0.999983844403656	0.51787	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.11	5.11	0.69188	4.832000	0.62449	7.572000	0.60737	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.718	0.91647	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1379.33	37	chr22	17542836	.	C	A	1379.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.606;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.722;SOR=0.662	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1393,0,1454	18	0	1	0
chr22	18157736	18157736	G	A	exonic	USP18	.	nonsynonymous SNV	USP18:NM_017414:exon2:c.G73A:p.D25N	.	425	1087	8	2	0	12	0.00548948	.	.	.	717291	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.017	.	0.0002	0.0113818	0.0066	9.614e-05	0.0006	0.0002	0	2.997e-05	0.0022	0.0475	0.0057373	887	154602	rs149306114	0.0027	0.0027	0.0014	0.0040	0.0435	0.0026	0.0026	0.0423	0.0418	0.0001	6.708e-05	0.0002	0.0001	0	0.0014	2.248e-05	0.0025	0.0435	0.0015	0.0015	0.0008	0.0022	0.0443	0.0013	0.0013	0.0395	0.0376	0.0002	0	0	0.0003	0	0	0	2.94e-05	0.0005	0.0443	0.006	0.61437	D	0.02	0.58613	D	0.244	0.31025	B	0.037	0.23121	B	0.109980	0.19461	N	0.416130	1	0.08975	N	0.695	0.17993	N	3.3	0.06368	T	-0.8	0.22078	N	0.154	0.15888	-0.9263	0.44673	T	0.008	0.02801	T	10	0.002385646	0.00035	T	.	.	.	0.017	0.02790	.	.	0.204665344411	0.20097	0.12566698284043726	0.12492	0.546934130114	0.51673	0.320371568203	0.13477	T	0.096575	0.39852	T	-0.674913	0.00051	T	-0.708661	0.05364	T	0.00801005041311881	0.00095	T	0.462854	0.13445	T	0.07477763	0.16804	0.040176682	0.04283	0.0670051	0.14468	0.040176682	0.04282	-3.81	0.20954	T	.	.	0.073	0.04723	B	.	.	0.869178	0.12421	8.954	0.98536696896807707	0.42670	0.07628	0.13636	N	AEFGBHCIJ	0.035259	0.04508	N	-1.00436552717558	0.08512	0.3994186	-1.04891728979656	0.08729	0.430634	0.999904197513726	0.45458	0.730579	0.87903	0	0.697927	0.68747	0	0.459711	0.06710	0	0.648885	0.59868	0	.	.	3.73	0.432	0.15742	0.425000	0.21065	3.014000	0.35974	0.618000	0.50648	0.042000	0.21073	0.844000	0.27327	0.006000	0.07323	0.228:0.2021:0.5699:0.0	3.861	0.08501	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	1	0	0	1	0	1	0	0.006546	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.026515	0.05263	2872.83	36	chr22	18157736	.	G	A	2872.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.39;DP=836;ExcessHet=0.119;FS=7.108;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.718;SOR=0.997	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1503,0,1594	17	0	2	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,177:177:99:.:.:5284,531,0:.	2	12	5	0
chr22	19089457	19089457	C	T	exonic	DGCR2	.	nonsynonymous SNV	DGCR2:NM_001184781:exon2:c.G113A:p.R38H,DGCR2:NM_005137:exon2:c.G113A:p.R38H	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.118832899363	0.0005	0.000399361	0.0003	0.0004	8.666e-05	0	0	0.0005	0.0011	6.641e-05	0.0002717	42	154602	rs151289611	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0101	0	0	0.0003	4.43e-05	0.0008	0	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0005	0.0004	0.0006	0	0.0008	0.0081	0	0	0	7.35e-05	0.0005	0	0.167	0.23095	T	0.181	0.29346	T	0.003	0.11197	B	0.006	0.12133	B	0.000128	0.49741	N	0.214512	0.993485	0.81001	D	1.275	0.32135	L	-3.74	0.95493	D	-0.68	0.19509	N	0.333	0.37405	-0.2575	0.76156	T	0.638	0.87325	D	10	0.015501648	0.00325	T	0.118833	0.79898	D	0.250	0.55888	.	.	0.833201615553	0.83161	0.5997364003667172	0.59904	0.332112332623	0.35272	0.404161542654	0.25648	T	0.225783	0.59061	T	-0.225866	0.17200	T	-0.164693	0.57928	T	0.0134255258079307	0.00244	T	0.691931	0.30130	T	0.013288761	0.00054	0.027413907	0.00892	0.013288761	0.00054	0.027413907	0.00892	-4.091	0.25157	T	.	.	0.070	0.03552	B	.;.	.;.	2.483042	0.32020	18.92	0.86628803148536659	0.16665	0.82346	0.41587	D	AEFDBHI	0.182241	0.30957	N	-0.804571236800262	0.13193	0.6482315	-0.676183111214562	0.17557	0.9340725	0.997776307168535	0.36014	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.82	1.61	0.22752	3.185000	0.50635	1.319000	0.25590	-0.781000	0.03322	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	0.0:0.6383:0.0:0.3617	7.356	0.25894	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1095.33	34	chr22	19089457	.	C	T	1095.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=788;ExcessHet=0;FS=2.993;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.246;SOR=0.4	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1109,0,907	18	0	1	0
chr22	19180775	19180775	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon30:c.G4688A:p.R1563H,CLTCL1:NM_007098:exon31:c.G4859A:p.R1620H	.	419	1040	61	2	0	65	0.030303	.	.	.	2821919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.0179712	0.0120	0.0017	0.0049	0.0107	0.0005	0.0072	0.0122	0.0482	0.0115328	1783	154602	rs5748024	0.0095	0.0095	0.0084	0.0107	0.0458	0.0094	0.0093	0.0446	0.0441	0.0013	0.0064	0.0203	0.0067	0.0008	0.0279	0.0072	0.0106	0.0458	0.0072	0.0072	0.0068	0.0077	0.0495	0.0069	0.0067	0.0444	0.0424	0.0016	0.0285	0.0074	0.0187	0.0106	0.0004	0.0272	0.0074	0.0090	0.0495	0.054	0.38633	T	0.056	0.46632	T	0.016	0.17332	B	0.015	0.17295	B	0.178427	0.17170	N	0.540718	1	0.08975	N	1.815	0.47718	L	1.44	0.32722	T	-1.99	0.45949	N	0.099	0.08088	-0.9915	0.32218	T	0.081	0.31913	T	10	0.0017917454	0.00023	T	.	.	.	0.156	0.40720	.	.	.	.	0.4663343100944464	0.46552	.	.	0.175947144628	0.00062	T	0.205721	0.56486	T	-0.577031	0.00201	T	-0.567333	0.15694	T	0.0139584133045565	0.00268	T	0.857914	0.54891	D	0.027700981	0.02001	0.042738877	0.05158	0.023303073	0.01059	0.042738877	0.05158	-4.509	0.33765	T	0.4150719537382289	0.50475	0.066	0.10111	B	.;.;.;.	.;.;.;.	-0.399366	0.02216	0.222	0.90121329692522201	0.19402	0.13782	0.18049	N	AEFBI	0.223044	0.34745	N	-1.48063429334403	0.01986	0.08726487	-1.65069623804797	0.01372	0.06198492	0.999999830592746	0.74766	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	4.81	-5.85	0.02121	0.293000	0.18785	-5.817000	0.01586	-1.541000	0.00979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9211:0.0:0.0789	18.122	0.89504	756	0.51065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019134	0.010101	0.016304	0.020468	0.100000	0.008621	0.009146	0.030303	0.07895	4732.79	34	chr22	19180775	.	C	T	4732.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.822;DP=951;ExcessHet=0.3672;FS=11.777;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.24;SOR=0.623	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1478,0,1794	16	0	3	0
chr22	20087262	20087262	C	T	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon3:c.C821T:p.P274L,DGCR8:NM_022720:exon3:c.C821T:p.P274L	.	412	1108	2	0	0	2	0.000901713	.	.	.	3246820	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00660328519709	.	.	9.908e-05	9.612e-05	0.0005	0	0	7.503e-05	0	0	7.76e-05	12	154602	rs765820841	3.352e-05	3.42e-05	2.995e-05	3.713e-05	0.0004	2.566e-05	2.312e-05	0.0002	0.0002	0.0004	0.0003	0	2.521e-05	0	0	8.994e-06	0.0001	3.479e-05	7.228e-05	7.224e-05	5.139e-05	9.414e-05	0.0002	3.971e-05	3.127e-05	0.0001	8.454e-05	0.0002	0	0	0	0	0	0	0	0.0010	0	0.15	0.24661	T	0.673	0.06265	T	0.0	0.02946	B	0.0	0.01387	B	0.000721	0.42254	D	0.274240	0.998111	0.44524	D	-0.55	0.02420	N	1.51	0.30937	T	-1.13	0.29114	N	0.156	0.20925	-1.0460	0.15534	T	0.022	0.09421	T	10	0.037407935	0.02093	T	0.006603	0.17415	T	0.079	0.23065	0.095	0.01241	0.151262610727	0.14761	0.20518093583157893	0.20435	0.488518040385	0.47651	0.550802707672	0.45970	T	0.106923	0.41869	T	-0.486049	0.00683	T	-0.629975	0.10417	T	0.0359371365457486	0.02969	T	0.805919	0.45429	T	0.029739643	0.02519	0.040025167	0.04233	0.029739643	0.02518	0.040025167	0.04233	-3.244	0.13026	T	.	.	0.055	0.05317	B	.;.;.	.;.;.	2.925038	0.38847	20.8	0.90378648147701268	0.19641	0.65913	0.32898	D	AEFGBHCI	0.099051	0.19948	N	-0.547713993505137	0.20555	1.084461	-0.345468879461293	0.26650	1.47336	0.999999345647792	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.93	2.41	0.28644	2.254000	0.42868	2.232000	0.31540	0.599000	0.40250	0.700000	0.28626	0.981000	0.30433	0.766000	0.36367	0.2788:0.4238:0.1241:0.1733	1.501	0.02327	535	0.73288	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2440.33	34	chr22	20087262	.	C	T	2440.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=858;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-1.279;SOR=0.718	GT:AD:DP:GQ:PL	0/1:139,100:239:99:2454,0,3318	18	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	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:2,5:7:28:154,0,28	5	0	13	1
chr22	21445988	21445988	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G1093A:p.E365K	.	408	1051	60	3	0	66	0.0304428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	0.00199681	0.0032	0	0.0004	0	0	0.0020	0.0023	0.0146	0.0020569	318	154602	rs149799345	0.0014	0.0014	0.0011	0.0017	0.0134	0.0013	0.0013	0.0110	0.0101	0.0003	0.0007	0.0179	0	0	0.0134	0.0004	0.0023	0.0106	0.0014	0.0014	0.0013	0.0015	0.0095	0.0012	0.0012	0.0073	0.0066	0.0002	0	0.0005	0.0242	0	0	0.0068	0.0009	0.0019	0.0095	0.045	0.40832	D	0.205	0.27145	T	0.842	0.46562	P	0.321	0.41760	B	0.000087	0.51296	D	0.129540	0.999958	0.52396	D	1.1	0.28011	L	2.87	0.10386	T	-0.61	0.18042	N	0.222	0.25989	-1.0161	0.24980	T	0.021	0.08639	T	10	0.004128903	0.00081	T	.	.	.	0.147	0.38986	.	.	0.221890330934	0.21812	0.18196097492644409	0.18115	0.638735978135	0.57575	0.689908981323	0.65693	T	0.012475	0.10959	T	-0.483591	0.00705	T	-0.458027	0.26816	T	0.0364715312035745	0.03063	T	0.79772	0.44184	T	0.14119413	0.32544	0.14045286	0.33479	0.14119413	0.32544	0.14045286	0.33478	-5.163	0.38563	T	.	.	0.132	0.31456	B	.;.;.	.;.;.	2.863044	0.37831	20.6	0.93165849342801133	0.22820	0.94731	0.62136	D	AEFDBCI	0.391223	0.46975	N	-0.0280916914730184	0.40586	2.412805	0.0229660518386293	0.40784	2.439533	0.999999999996887	0.74766	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.798000	0.38449	9.871000	0.82128	0.654000	0.53741	0.969000	0.34210	1.000000	0.68203	0.402000	0.26827	0.0:0.0:1.0:0.0	16.225	0.82106	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010628	0.000000	0.013661	0.008772	0.050000	0.008772	0.015432	0.007576	0.02632	697.33	33	chr22	21445988	.	G	A	697.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=0.516;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,24:48:99:711,0,612	18	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:82,44:126:99:1600,0,3241	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:74,24:98:99:428,0,2034	9	0	10	0
chr22	23692209	23692209	G	A	exonic	RGL4	.	nonsynonymous SNV	RGL4:NM_001329424:exon1:c.G179A:p.R60H,RGL4:NM_153615:exon1:c.G179A:p.R60H	.	.	.	.	.	.	.	.	0.9852	0.724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	.	.	1.653e-05	9.61e-05	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs767297692	1.507e-05	1.505e-05	1.498e-05	1.515e-05	0.0002	9.86e-06	8.42e-06	3.985e-05	2.375e-05	0.0001	0	0	2.523e-05	0	0.0002	1.441e-05	0	0	3.942e-05	3.94e-05	3.853e-05	4.035e-05	0.0001	1.715e-05	1.129e-05	6.284e-05	4.3e-05	0.0001	0	0	0	0	0	0	0	0	0	0.031	0.45039	D	0.315	0.20100	T	0.703	0.41913	P	0.099	0.30579	B	0.673466	0.06050	U	1.228780	1	0.08975	N	0	0.06538	N	1.4	0.37405	T	0.17	0.05125	N	0.014	0.00160	-1.0307	0.20227	T	0.038	0.16419	T	10	0.0371162	0.02047	T	8.66E-4	0.00755	T	0.043	0.11576	.	.	0.282575091529	0.27877	0.18304978176628556	0.18223	0.10012679027	0.11315	0.45968067646	0.33266	T	0.011403	0.10182	T	-0.504227	0.00541	T	-0.725395	0.04539	T	0.0294649328984362	0.01907	T	0.433057	0.11799	T	0.028349463	0.02159	0.027891936	0.00977	0.028349463	0.02159	0.027891936	0.00977	-3.858	0.21674	T	.	.	0.095	0.15115	B	.;.	.;.	1.400433	0.18141	13.57	0.87858018215672018	0.17534	0.00110	0.00700	N	AEFDBCI	0.026453	0.01989	N	-1.80874289877358	0.00524	0.02256051	-1.99927019317018	0.00307	0.0135719	0.999996435652094	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	1.33	-2.66	0.05721	-0.233000	0.09056	-0.823000	0.07287	-2.622000	0.00230	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4639:0.0:0.2764:0.2597	3.712	0.07955	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1727.33	44	chr22	23692209	.	G	A	1727.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=817;ExcessHet=0;FS=3.32;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.159;SOR=1.034	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1741,0,1488	18	0	1	0
chr22	23882787	23882787	G	A	exonic	SLC2A11	.	nonsynonymous SNV	SLC2A11:NM_001024938:exon8:c.G902A:p.R301Q,SLC2A11:NM_001024939:exon8:c.G911A:p.R304Q,SLC2A11:NM_001282864:exon8:c.G923A:p.R308Q,SLC2A11:NM_030807:exon9:c.G923A:p.R308Q	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0112	0.0129792	0.0038	0.0401	0.0030	0	0	0.0003	0.0013	6.725e-05	0.0034928	540	154602	rs36015336	0.0012	0.0012	0.0014	0.0011	0.0334	0.0012	0.0012	0.0318	0.0311	0.0334	0.0038	0.0010	0	1.874e-05	0.0045	0.0002	0.0034	0.0001	0.0096	0.0096	0.0097	0.0095	0.0325	0.0092	0.0090	0.0310	0.0304	0.0325	0	0.0046	0.0006	0.0002	0	0	0.0003	0.0085	0.0002	0.656	0.04912	T	0.621	0.07666	T	0.007	0.14184	B	0.013	0.16460	B	0.131107	0.18634	N	0.567095	1	0.08975	N	0.44	0.12706	N	-0.78	0.73631	T	0.5	0.02945	N	0.058	0.09772	-0.9977	0.30563	T	0.017	0.06998	T	10	0.003401935	0.00060	T	.	.	.	0.051	0.14325	.	.	0.258779203287	0.25495	0.13369982003736744	0.13293	0.220665112055	0.24609	0.267582058907	0.05828	T	0.035436	0.23719	T	-0.608135	0.00130	T	-0.620558	0.11142	T	0.000285303257044799	0.00002	T	0.744226	0.36418	T	0.012405551	0.00033	0.017768485	0.00039	0.012405551	0.00033	0.017768485	0.00039	-5.116	0.38117	T	.	.	0.068	0.05188	B	.;.;.;.	.;.;.;.	0.830825	0.12021	8.579	0.83287092344280766	0.14643	0.01417	0.04784	N	AEFDGI	0.052772	0.09450	N	-1.81237097622597	0.00515	0.02219377	-1.81571343814555	0.00710	0.03163679	0.00289582093512256	0.09781	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	4.12	-4.21	0.03552	-0.054000	0.11783	-0.948000	0.06824	-1.023000	0.01723	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4794:0.0:0.2368:0.2838	3.776	0.08182	976	0.04745	Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016113	0.050505	0.020380	0.017544	0.000000	0.000000	0.000000	0.000000	0.02632	1919.33	38	chr22	23882787	.	G	A	1919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.575;DP=935;ExcessHet=0;FS=2.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.059;SOR=0.865	GT:AD:DP:GQ:PL	0/1:101,79:180:99:1933,0,2503	18	0	1	0
chr22	24220673	24220673	A	G	exonic	GGT5	.	nonsynonymous SNV	GGT5:NM_001302464:exon11:c.T1574C:p.I525T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0003	0.0160	0	0	.	0	0	0	6.47e-05	10	154602	rs375575559	0.0001	5.884e-05	0.0001	8.684e-05	0.0027	7.937e-05	6.916e-05	0.0018	0.0015	0.0027	0.0001	0	0	0	0	6.301e-06	0.0004	1.675e-05	0.0011	0.0011	0.0012	0.0010	0.0037	0.0009	0.0009	0.0032	0.0030	0.0037	0	0.0005	0	0	0	0	1.47e-05	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	132.33	33	chr22	24220673	.	A	G	132.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.51;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-1.454;SOR=0.79	GT:AD:DP:GQ:PL	0/1:7,7:14:99:146,0,182	18	0	1	0
chr22	25359911	25359911	G	A	exonic	LRP5L	.	nonsynonymous SNV	LRP5L:NM_182492:exon1:c.C182T:p.T61M,LRP5L:NM_001135772:exon4:c.C182T:p.T61M	.	8	1491	22	1	0	24	0.00798403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	0.007	0.00698882	0.0067	0.0025	0.0031	0	0.0032	0.0094	0.0077	0.0054	0.0069986	1082	154602	rs17616994	0.0092	0.0092	0.0092	0.0091	0.0107	0.0090	0.0090	0.0105	0.0105	0.0018	0.0032	0.0052	2.519e-05	0.0041	0.0047	0.0107	0.0067	0.0057	0.0053	0.0054	0.0058	0.0049	0.0088	0.0050	0.0049	0.0083	0.0080	0.0023	0	0.0029	0.0035	0.0002	0.0023	0.0034	0.0088	0.0033	0.0060	0.003	0.68238	D	0.023	0.57104	D	0.994	0.66517	D	0.793	0.57829	P	.	.	.	.	0.999468	0.47157	D	0.895	0.22405	L	-2.77	0.90904	D	-2.77	0.58733	D	0.649	0.72299	0.043	0.83097	D	0.437	0.77676	T	9	0.009141475	0.00207	T	.	.	.	0.505	0.78662	.	.	0.440394187108	0.43661	0.804302597219854	0.80384	0.301061417325	0.32454	.	.	.	0.359961	0.72628	T	-0.199259	0.20912	T	-0.0460242	0.67294	D	0.0411187928686381	0.03894	T	0.965703	0.87317	D	0.1210072	0.28462	0.2734422	0.53263	0.1210072	0.28462	0.2734422	0.53262	-5.198	0.38921	T	.	.	0.102	0.20819	B	.;.	.;.	1.844567	0.23437	16.02	0.99764491916807996	0.85335	0.95763	0.66050	D	AEFDGBI	0.697777	0.65567	D	0.154459331486858	0.49022	3.107435	0.0327252795487891	0.41244	2.47468	0.999959702095857	0.48110	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.491896	0.07777	0	.	.	1.88	1.88	0.24630	8.691000	0.91006	8.297000	0.76926	0.308000	0.19071	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	9.811	0.39992	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.006812	0.002924	0.000000	0.025862	0.006098	0.003788	0.05263	4788.83	39	chr22	25359911	.	G	A	4788.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.88;DP=968;ExcessHet=0.119;FS=0.384;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.4;SOR=0.734	GT:AD:DP:GQ:PL	0/1:96,93:189:99:2511,0,2254	17	0	2	0
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.092232836446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.158e-06	1.3e-05	4.259e-06	0	2.79e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.79e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.382	0.15890	T	0.999	0.77913	D	0.996	0.84481	D	0.000562	0.43250	D	0.231958	0.999998	0.58761	D	2.005	0.54552	M	-3.55	0.94834	D	-1.3	0.32590	N	0.603	0.62103	0.873	0.95310	D	0.854	0.95149	D	10	0.3825744	0.54304	T	0.092233	0.75853	D	0.409	0.72099	0.19	0.10039	0.813956147583	0.81220	0.39497344297316855	0.39412	.	.	0.577225387096	0.49695	T	0.029009	0.20885	T	0.212969	0.75111	D	0.0681383	0.74787	D	0.896070539951324	0.54772	D	0.984702	0.94722	D	0.313312	0.54071	0.39437744	0.64133	0.313312	0.54071	0.39437744	0.64133	-2.954	0.09694	T	.	.	0.597	0.68768	P	.;.	.;.	4.504296	0.70476	25.5	0.99803016321568272	0.88728	0.97027	0.72267	D	AEFDBI	0.627685	0.61005	D	0.584171606304849	0.72186	5.766284	0.570052008804894	0.72802	5.867747	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	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	.	.	.	.	.	.	.	.	0.1071	376.54	96	chr22	27983494	.	C	G	376.54	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-3.531;DP=1659;ExcessHet=1.3;FS=183.163;InbreedingCoeff=-0.2466;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=1.77;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:71:0|1:27983493_C_G:71,0,2406:27983493	11	0	3	5
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	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	.	.	.	.	.	.	.	.	0.3333	1281.88	98	chr22	27983495	.	C	G	1281.88	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-2.495;DP=1647;ExcessHet=2.9153;FS=208.381;InbreedingCoeff=-0.4601;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.61;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:71:0|1:27983493_C_G:71,0,2406:27983493	3	0	6	10
chr22	30366082	30366082	G	A	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon3:c.G82A:p.V28I,CCDC157:NM_001318334:exon3:c.G82A:p.V28I,CCDC157:NM_001318335:exon3:c.G82A:p.V28I	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0141185052877	0.0002	.	8.273e-05	0	0	0	0	0.0001	0	6.058e-05	6.47e-05	10	154602	rs368016774	4.182e-05	4.241e-05	4.64e-05	3.72e-05	0.0028	3.318e-05	3.007e-05	0.0017	0.0014	0	2.236e-05	0	0	3.975e-05	0.0028	2.878e-05	9.942e-05	4.637e-05	6.566e-05	6.561e-05	3.855e-05	9.401e-05	0.0001	3.514e-05	2.615e-05	4.766e-05	3.34e-05	2.406e-05	0	0	0.0003	0	0	0.0034	0.0001	0	0	0.093	0.40068	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.991652	0.41441	D	2.215	0.62545	M	0.61	0.53516	T	-0.71	0.20145	N	0.179	0.22486	-0.5953	0.65008	T	0.283	0.65468	T	9	0.25547695	0.42941	T	0.014119	0.34021	T	0.157	0.40909	.	.	0.270447802918	0.26645	0.2896293672047166	0.28875	0.0692228764324	0.07746	0.524654746056	0.42282	T	0.020941	0.16396	T	-0.172807	0.24811	T	-0.299465	0.44780	T	0.134574130945683	0.15798	T	0.743826	0.36376	T	0.06278155	0.13149	0.09629504	0.22874	0.06278155	0.13149	0.09629504	0.22873	-4.058	0.24668	T	.	.	0.118	0.34116	B	.;.;.;.;.	.;.;.;.;.	3.039980	0.40753	21.2	0.99753059335246352	0.84460	0.98492	0.83351	D	AEFDBI	0.689480	0.65013	D	0.703303643594976	0.79847	7.165436	0.677825898925095	0.80698	7.35718	0.999999999938381	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.36	5.36	0.76624	7.325000	0.78398	7.517000	0.59705	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.0:0.0:1.0:0.0	17.241	0.86895	305	0.87738	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2411.33	49	chr22	30366082	.	G	A	2411.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=805;ExcessHet=0;FS=4.024;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.28;SOR=0.426	GT:AD:DP:GQ:PL	0/1:58,88:146:99:2425,0,1220	18	0	1	0
chr22	33650384	33650384	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001362951:exon3:c.G391A:p.V131I,LARGE1:NM_001362953:exon3:c.G391A:p.V131I,LARGE1:NM_001378626:exon3:c.G391A:p.V131I,LARGE1:NM_001378627:exon3:c.G391A:p.V131I,LARGE1:NM_001378628:exon3:c.G391A:p.V131I,LARGE1:NM_001378629:exon3:c.G391A:p.V131I,LARGE1:NM_133642:exon3:c.G391A:p.V131I,LARGE1:NM_001362949:exon4:c.G391A:p.V131I,LARGE1:NM_001378624:exon4:c.G391A:p.V131I,LARGE1:NM_001378625:exon4:c.G391A:p.V131I,LARGE1:NM_004737:exon4:c.G391A:p.V131I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	1	1505	16	0	0	16	0.00528751	.	.	.	194403	not_provided|Inborn_genetic_diseases|Muscular_dystrophy-dystroglycanopathy_type_B6|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00737510559635	0.0003	0.000199681	0.0005	0.0001	0.0002	0	0	0.0005	0.0011	0.0015	0.0004722	73	154602	rs56239539	0.0006	0.0006	0.0005	0.0006	0.0024	0.0005	0.0005	0.0018	0.0017	0	0.0003	3.826e-05	0	7.504e-05	0.0024	0.0005	0.0005	0.0021	0.0003	0.0003	0.0004	0.0002	0.0019	0.0003	0.0002	0.0010	0.0007	7.216e-05	0	6.533e-05	0	0	0	0	0.0005	0.0009	0.0019	0.21	0.22138	T	0.205	0.33780	T	0.002	0.09854	B	0.011	0.15521	B	0.009690	0.30245	N	0.337863	0.999537	0.21028	N	.	.	.	1.22	0.37405	T	-0.14	0.18248	N	0.236	0.32370	-1.0668	0.10131	T	0.097	0.36341	T	10	0.012152314	0.00262	T	0.007375	0.19550	T	0.067	0.19503	.	.	0.110392049598	0.10638	0.16995228859857772	0.16915	0.43110305208	0.43331	0.438940137625	0.30432	T	0.176434	0.52638	T	-0.571152	0.00218	T	-0.612211	0.11805	T	0.0201421945525363	0.00715	T	0.822518	0.61827	T	0.097901694	0.23085	0.0677319	0.14052	0.0644511	0.13674	0.08789194	0.20459	-6.833	0.52804	T	0.09608060228894312	0.06610	0.070	0.19316	B	.;.;.;.;.	.;.;.;.;.	2.828668	0.37287	20.5	0.99162027252266094	0.54127	0.39510	0.26229	N	AEFBI	0.243223	0.36454	N	-0.287921974690241	0.29614	1.643809	-0.109242881608558	0.35017	2.020904	0.999995232328991	0.74766	0.631515	0.41029	0	0.653731	0.59785	0	0.697927	0.64325	0	0.620846	0.47308	0	.	.	5.71	5.71	0.89031	3.238000	0.51051	7.575000	0.60810	0.599000	0.40250	0.157000	0.23755	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.869	0.96839	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	0.006546	0.000000	0.001359	0.005848	0.000000	0.017241	0.009146	0.015152	0.02632	583.33	35	chr22	33650384	.	C	T	583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.009;DP=696;ExcessHet=0;FS=2.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.402;SOR=1.123	GT:AD:DP:GQ:PL	0/1:35,22:57:99:597,0,1010	18	0	1	0
chr22	36265413	36265413	G	A	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G523A:p.G175S,APOL1:NM_001362927:exon5:c.G523A:p.G175S,APOL1:NM_001136540:exon6:c.G577A:p.G193S,APOL1:NM_003661:exon6:c.G577A:p.G193S,APOL1:NM_145343:exon7:c.G625A:p.G209S	.	.	.	.	.	.	.	.	.	.	.	2111601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.263	0.00622263168102	7.7e-05	.	0.0002	9.619e-05	0	0	0.0003	0.0003	0	0	0.000194	30	154602	rs183714534	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0001	8.953e-05	0	2.519e-05	0.0002	0.0002	0.0003	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.817e-05	0	0	0	0	0.0005	0	0.0003	0	0	0.045	0.42783	D	0.025	0.56640	D	0.742	0.43019	P	0.351	0.42849	B	0.000000	0.84330	D	0.000000	0.947215	0.37559	D	2.74	0.80084	M	1.1	0.39050	T	-5.06	0.82764	D	0.454	0.49328	-0.7960	0.55380	T	0.170	0.51085	T	10	0.45091784	0.58692	T	0.006223	0.16317	T	0.263	0.57612	.	.	0.62478398535	0.62173	0.7187336993986437	0.71816	0.123015874218	0.13861	0.311918318272	0.12197	T	0.139845	0.47407	T	-0.158976	0.26917	T	-0.146125	0.59585	T	0.409505784511566	0.29300	T	0.925008	0.72455	D	0.34845737	0.56946	0.24303111	0.49738	0.34845737	0.56946	0.24303111	0.49737	-7.196	0.55481	T	.	.	0.143	0.35247	B	.;.;.;.;.	.;.;.;.;.	1.711587	0.21796	15.35	0.93731575499395869	0.23661	0.24371	0.22373	N	AEFBI	0.268668	0.38511	N	-0.133347407646025	0.35945	2.071256	-0.2945794380517	0.28276	1.575281	0.878340915307425	0.25564	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	3.38	3.38	0.37806	1.415000	0.34355	1.281000	0.25351	-0.298000	0.06216	0.770000	0.29357	0.245000	0.23879	0.000000	0.00833	0.0:0.0:1.0:0.0	10.154	0.41989	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2287.33	173	chr22	36265413	.	G	A	2287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=2734;ExcessHet=0;FS=1.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.951;SOR=0.688	GT:AD:DP:GQ:PL	0/1:105,86:191:99:2301,0,2651	18	0	1	0
chr22	38479627	38479627	A	G	exonic	KDELR3	.	nonsynonymous SNV	KDELR3:NM_006855:exon3:c.A227G:p.Y76C,KDELR3:NM_016657:exon3:c.A227G:p.Y76C	.	428	1091	3	0	0	3	0.001373	.	.	.	2194939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.399	0.0570826555456	0.0022	0.000798722	0.0013	0.0007	0.0010	0	0.0003	0.0021	0	6.056e-05	0.0013583	210	154602	rs138428820	0.0024	0.0024	0.0024	0.0023	0.0029	0.0023	0.0023	0.0028	0.0028	0.0004	0.0013	0.0014	0	3.744e-05	0.0003	0.0029	0.0025	8.115e-05	0.0017	0.0017	0.0019	0.0014	0.0028	0.0015	0.0014	0.0025	0.0023	0.0007	0	0.0018	0.0014	0	9.416e-05	0.0034	0.0028	0.0014	0	0.001	0.78490	D	0.004	0.76473	D	0.996	0.68779	D	0.967	0.71530	D	0.000081	0.52346	D	0.136380	1	0.81001	D	3.515	0.92918	H	1.43	0.32958	T	-7.37	0.94674	D	0.903	0.91162	-0.6145	0.64217	T	0.222	0.58498	T	10	0.18365392	0.33703	T	0.057083	0.66838	D	0.399	0.71321	.	.	0.631991100555	0.62898	0.8996169807100582	0.89933	0.636485330351	0.57427	0.770579576492	0.77512	T	0.186756	0.54015	T	-0.16837	0.25483	T	-0.0179935	0.69161	D	0.10515662794616	0.12914	T	0.90311	0.66064	D	0.73742366	0.80145	0.67704815	0.81033	0.73742366	0.80147	0.67704815	0.81034	-7.767	0.59506	D	.	.	0.089	0.18497	B	.;.	.;.	4.978708	0.82446	27.8	0.99816654302581742	0.89973	0.90087	0.50994	D	AEFDBCI	0.824486	0.74437	D	0.700121505191781	0.79638	7.120553	0.594891365583138	0.74573	6.159959	0.999989539708749	0.51787	0.67177	0.52595	0	0.577304	0.33150	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	4.63	3.58	0.40133	7.353000	0.78667	11.144000	0.87156	0.734000	0.85920	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8552:0.0:0.0:0.1448	10.546	0.44249	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1294.33	42	chr22	38479627	.	A	G	1294.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.525;DP=839;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.843;SOR=0.748	GT:AD:DP:GQ:PL	0/1:74,55:129:99:1308,0,1896	18	0	1	0
chr22	43765381	43765381	T	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_022785:exon5:c.A364T:p.T122S	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0071	0.00139776	0.0070	0.0010	0.0049	0	0.0057	0.0111	0.0045	0.0002	0.0068757	1063	154602	rs34459061	0.0090	0.0090	0.0094	0.0085	0.0104	0.0088	0.0088	0.0102	0.0102	0.0015	0.0060	0.0172	2.525e-05	0.0058	0.0007	0.0104	0.0074	0.0003	0.0070	0.0071	0.0073	0.0068	0.0099	0.0067	0.0066	0.0093	0.0091	0.0017	0.0526	0.0087	0.0193	0	0.0049	0	0.0099	0.0114	0	0.848	0.02753	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.424463	0.12828	N	0.708126	1	0.81001	D	-2.19	0.00126	N	1.82	0.25018	T	0.52	0.02853	N	0.086	0.07949	-0.9785	0.35345	T	0.008	0.02926	T	10	0.0036314428	0.00066	T	.	.	.	0.030	0.07022	0.335	0.32329	0.167679373172	0.16340	0.11220863348565291	0.11149	0.050289316464	0.05517	0.278401970863	0.07271	T	9.35E-4	0.00486	T	-0.667604	0.00057	T	-0.721356	0.04730	T	0.00442526136119251	0.00047	T	0.317668	0.06361	T	0.01921504	0.00448	0.026221674	0.00700	0.01921504	0.00448	0.026221674	0.00700	-2.416	0.05232	T	.	.	0.075	0.08272	B	.;.	.;.	-0.239309	0.02897	0.416	0.2138202325986811	0.00812	0.48125	0.28137	N	AEFDI	0.140390	0.26228	N	-1.3891362336203	0.02739	0.1213854	-1.1870789575731	0.06125	0.2938617	1.2972034052915E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.34	0.998	0.18975	0.033000	0.13642	0.002000	0.13306	-0.770000	0.03453	0.977000	0.34929	0.847000	0.27355	0.071000	0.16709	0.178:0.1013:0.1852:0.5355	1.362	0.02061	917	0.20147	DJBP, 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	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1129.33	38	chr22	43765381	.	T	A	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.09;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.737;SOR=0.64	GT:AD:DP:GQ:PL	0/1:66,47:113:99:1143,0,1787	18	0	1	0
chr22	44862542	44862542	A	C	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_181335:exon12:c.A1249C:p.T417P,ARHGAP8:NM_001017526:exon13:c.A1342C:p.T448P,PRR5-ARHGAP8:NM_181334:exon15:c.A1642C:p.T548P	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00179490804107	.	0.000599042	0.0010	9.673e-05	0.0003	0	0.0005	0.0007	0	0.0039	0.0007762	120	154602	rs145959767	0.0007	0.0007	0.0006	0.0008	0.0070	0.0007	0.0006	0.0053	0.0047	0.0002	0.0009	3.857e-05	0	0.0006	0.0070	0.0006	0.0008	0.0028	0.0009	0.0009	0.0007	0.0011	0.0041	0.0008	0.0007	0.0033	0.0030	0.0001	0	0.0041	0	0	9.418e-05	0	0.0008	0.0009	0.0019	0.01	0.61437	D	0.109	0.37589	T	0.165	0.57185	B	0.047	0.45749	B	0.013958	0.01377	N	3.192320	1	0.08975	N	1.67	0.42885	L	2.27	0.18414	T	-0.5	0.16187	N	0.152	0.19325	-1.0232	0.22671	T	0.032	0.13811	T	10	0.0057038963	0.00127	T	0.001795	0.03063	T	0.191	0.46948	.	.	0.0806252709748	0.07271	0.3710524537876445	0.51163	.	.	0.508095383644	0.39955	T	0.05588	0.30132	T	-0.496384	0.00599	T	-0.488849	0.23513	T	0.00729759938072632	0.00084	T	0.389061	0.09624	T	0.0796508	0.18209	0.059343465	0.11122	0.0796508	0.18208	0.059343465	0.11121	-2.209	0.04084	T	.	.	0.053	0.01909	B	.;.;.;.	.;.;.;.	-1.196135	0.00534	0.012	0.77755582002624379	0.12008	0.00640	0.02800	N	AEFDBI	0.081546	0.16501	N	-1.31577161347901	0.03494	0.1561818	-1.49288992733271	0.02402	0.1104212	0.015722548148872	0.12748	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.56	-3.75	0.04087	-3.763000	0.00419	-5.810000	0.01589	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4517:0.1913:0.357:0.0	3.885	0.08597	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002591	0.005051	0.001359	0.003497	0.000000	0.008621	0.003049	0.003788	0.02632	1737.33	33	chr22	44862542	.	A	C	1737.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.009;DP=1366;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.677;SOR=0.634	GT:AD:DP:GQ:PL	0/1:69,71:140:99:1751,0,1735	18	0	1	0
chr22	46262091	46262091	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C1232T:p.A411V	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	.	0.00898562	0.0050	0	0	0.0001	0	1.499e-05	0	0.0362	0.0042949	664	154602	rs548650819	0.0024	0.0024	0.0013	0.0034	0.0379	0.0023	0.0023	0.0369	0.0364	8.961e-05	2.236e-05	0	7.557e-05	0	0.0012	1.978e-05	0.0026	0.0379	0.0011	0.0012	0.0004	0.0019	0.0358	0.0010	0.0010	0.0314	0.0297	0	0	6.533e-05	0	0.0002	0	0	0	0.0005	0.0358	0.018	0.50676	D	0.037	0.51737	D	0.877	0.48223	P	0.56	0.49558	P	0.017974	0.27594	N	0.254049	1	0.08975	N	2.36	0.67893	M	-0.44	0.69777	T	-1.59	0.38345	N	0.186	0.20262	-0.7389	0.58509	T	0.279	0.65099	T	10	0.004831463	0.00103	T	.	.	.	0.190	0.46781	0.741	0.87317	0.636338961461	0.63335	0.624777415327211	0.62410	.	.	0.254787713289	0.04289	T	0.308003	0.68012	T	-0.427489	0.01535	T	-0.360375	0.38009	T	0.114089299615074	0.13842	T	0.772623	0.40374	T	0.09479906	0.22296	0.17239438	0.39491	0.09479906	0.22296	0.17239438	0.39490	-2.677	0.07112	T	.	.	0.177	0.38711	B	.	.	2.484032	0.32036	18.92	0.99887653632632756	0.96281	0.20967	0.21233	N	AEFDBI	0.067714	0.13324	N	-0.201417386125871	0.33075	1.872491	-0.376603856033024	0.25695	1.414709	0.999992476519673	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.78	2.55	0.29757	1.955000	0.39997	2.465000	0.32872	0.676000	0.76740	0.019000	0.19563	0.141000	0.23092	0.012000	0.09680	0.08:0.0:0.7765:0.1435	9.233	0.36609	942	0.12992	PKD/REJ-like domain|REJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.07895	7786.79	35	chr22	46262091	.	G	A	7786.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.779;DP=1269;ExcessHet=0.3672;FS=1.097;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.542;SOR=0.608	GT:AD:DP:GQ:PL	0/1:104,116:220:99:2977,0,2925	16	0	3	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	5161.29	82	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	5161.29	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.299;DP=1193;ExcessHet=0.6689;FS=0;InbreedingCoeff=0.05;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.471;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,38:107:99:.:.:1377,0,2765:.	15	1	3	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	13594.5	82	chr22	49922304	.	C	*	13594.5	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.882;DP=1316;ExcessHet=0.233;FS=0;InbreedingCoeff=0.229;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.13;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,38:107:99:.:.:1377,0,2765:.	13	1	5	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1933.34	82	chr22	49922325	.	G	*	1933.34	.	AC=6;AF=0.167;AN=36;BaseQRankSum=1.19;DP=1223;ExcessHet=0.386;FS=1.156;InbreedingCoeff=0.1556;MLEAC=6;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.36;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,38:107:99:.:.:1377,0,2765:.	13	1	4	1
chr22	50201141	50201141	C	G	exonic	SELENOO	.	unknown	UNKNOWN	.	434	1059	25	4	0	33	0.0153417	.	.	.	2819745	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0137	0.0714	0	0	.	0.0259	0	0.0100	0.0008926	138	154602	rs528120489	0.0072	0.0065	0.0071	0.0073	0.0224	0.0071	0.0070	0.0183	0.0167	0.0011	0.0048	0.0202	3.802e-05	0.0066	0.0224	0.0073	0.0073	0.0065	0.0059	0.0059	0.0059	0.0059	0.0076	0.0056	0.0054	0.0070	0.0068	0.0013	0	0.0074	0.0213	0.0010	0.0076	0.0207	0.0076	0.0067	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	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	0.012876	0.000000	0.018349	0.013889	0.000000	0.000000	0.017857	0.028302	0.02632	219.33	32	chr22	50201141	.	C	G	219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.953;DP=456;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.185;SOR=0.273	GT:AD:DP:GQ:PL	0/1:5,10:15:99:233,0,103	18	0	1	0
chr22	50215867	50215867	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	0.9790	0.746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	.	.	0.0002	0	0.0005	0	0	1.523e-05	0.0023	0.0006	0.0001164	18	154602	rs777867754	7.234e-05	7.388e-05	4.928e-05	9.571e-05	0.0008	6.09e-05	5.635e-05	0.0007	0.0006	0	0	0	0	0	0.0002	2.715e-05	6.684e-05	0.0008	1.97e-05	1.968e-05	0	4.027e-05	0.0004	5.24e-06	2.45e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.35	0.12305	T	0.423	0.14200	T	0.863	0.47474	P	0.145	0.33871	B	0.000019	0.62929	D	0.067190	1	0.81001	D	2.19	0.61577	M	2.25	0.17761	T	-0.77	0.21429	N	0.717	0.71942	-1.0727	0.08830	T	0.038	0.16376	T	10	0.12803462	0.24352	T	.	.	.	0.210	0.50028	.	.	0.456647468687	0.45291	.	.	0.512778458504	0.49301	0.526624560356	0.42559	T	0.01429	0.12197	T	-0.249845	0.14117	T	-0.215934	0.53127	T	0.251152798599751	0.22924	T	0.929107	0.73907	D	0.15912263	0.35762	0.13171051	0.31622	0.15912263	0.35762	0.13171051	0.31621	.	.	.	.	.	0.173	0.37914	B	.;.	.;.	5.436099	0.90877	32	0.99742085435259387	0.83555	0.98426	0.82655	D	AEFDBCI	0.915701	0.88084	D	0.396293292199272	0.61221	4.320268	0.494047256676993	0.67594	5.10508	0.99999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	9.503000	0.96975	8.467000	0.77261	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	19.562	0.95368	684	0.59539	.;.	.	.	.	.	.	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	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011450	0.02632	608.33	35	chr22	50215867	.	G	A	608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.093;SOR=0.527	GT:AD:DP:GQ:PL	0/1:24,21:45:99:622,0,630	18	0	1	0
chrX	6533891	6533891	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G415C:p.E139Q	.	590	905	21	1	5	28	0.0125477	.	.	.	2823779	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00179344001198	0.0006	0.000264901	0.0045	0.0009	0.0023	0.0014	0.0029	0.0071	0.0018	0.0007	0.0032988	510	154602	rs200714581	0.0008	0.0020	0.0012	1.23e-05	0.0009	0.0008	0.0008	0.0008	0.0008	0	0.0002	0.0008	6.976e-05	0.0020	0.0007	0.0009	0.0012	9.875e-05	0.0041	0.0057	0.0053	5.056e-05	0.0068	0.0038	0.0037	0.0061	0.0059	0.0009	0.0077	0.0029	0.0022	0.0010	0.0022	0	0.0068	0.0034	0.0012	0.544	0.06713	T	0.438	0.13403	T	0.876	0.48154	P	0.15	0.34161	B	.	.	.	.	1	0.18198	N	0.46	0.12951	N	2.2	0.18570	T	0.18	0.05035	N	0.027	0.00571	-1.0072	0.27789	T	0.011	0.04274	T	8	0.006188631	0.00139	T	0.001793	0.03063	T	0.022	0.04323	.	.	0.0675242888579	0.06100	0.005834718446931377	0.00552	0.264439684571	0.28993	0.460398644209	0.33365	T	8.18E-4	0.00397	T	-0.76023	0.00015	T	-0.900172	0.00501	T	0.0066683077830758	0.00075	T	0.453855	0.12912	T	0.12563546	0.29446	0.07094291	0.15133	0.12563546	0.29446	0.07094291	0.15133	-2.302	0.04566	T	.	.	0.094	0.14614	B	.	.	-0.450745	0.02030	0.183	0.11927049906394777	0.00193	0.00081	0.00551	N	AEFI	.	.	.	.	.	.	.	.	.	2.0318682873288E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.367000	0.07607	-2.172000	0.04107	-1.431000	0.01115	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6668:0.0:0.3332	4.428	0.10939	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.009483	0.050000	0.007722	0.000000	0.000000	0.012658	0.006250	0.006329	0.05263	1974.83	161	chrX	6533891	.	C	G	1974.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.97;DP=1482;ExcessHet=0.119;FS=26.176;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=39.36;MQRankSum=4.79;QD=7.9;ReadPosRankSum=-1.292;SOR=1.926	GT:AD:DP:GQ:PL	0/1:51,70:121:99:1816,0,1139	17	0	2	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	1000.93	34	chrX	10469688	.	G	A	1000.93	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.75;DP=1491;ExcessHet=2.9153;FS=112.758;InbreedingCoeff=-0.2319;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=1.26;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,20:84:99:0|1:10469688_G_A:312,0,2005:10469688	12	0	7	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,20:84:99:0|1:10469688_G_A:312,0,2005:10469688	8	0	10	1
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	1243.64	146	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	1243.64	.	AC=9;AF=0.321;AN=28;BaseQRankSum=1.99;DP=1570;ExcessHet=0.0012;FS=7.718;InbreedingCoeff=0.3681;MLEAC=11;MLEAF=0.393;MQ=59.79;MQRankSum=0;QD=6.38;ReadPosRankSum=2.49;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,12:12:45:1|1:24364308_TG_T:986,45,0:24364308	9	4	1	5
chrX	50695789	50695789	C	T	exonic	SHROOM4	.	nonsynonymous SNV	SHROOM4:NM_020717:exon2:c.G266A:p.R89K	.	1	1472	31	18	0	67	0.0222517	.	.	.	209089	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.254	0.0218717520706	0.0014	0.0010596	0.0021	0.0004	0.0014	0	0	0.0019	0.0079	0.0068	0.0019081	295	154602	rs148911180	0.0016	0.0016	0.0015	0.0020	0.0237	0.0016	0.0015	0.0199	0.0185	0.0004	0.0018	0.0103	3.311e-05	7.404e-05	0.0237	0.0010	0.0032	0.0076	0.0012	0.0012	0.0012	0.0011	0.0046	0.0010	0.0010	0.0027	0.0021	0.0003	0	0.0022	0.0106	0.0003	0	0.0095	0.0010	0.0052	0.0046	0.131	0.26629	T	0.481	0.11864	T	1.0	0.90584	D	0.998	0.88582	D	0.024429	0.26263	N	0.266037	0.999927	0.51308	D	0.94	0.23649	L	2.84	0.10674	T	-0.33	0.12472	N	0.127	0.12055	-1.1202	0.02319	T	0.040	0.17277	T	10	0.009545982	0.00215	T	0.021872	0.44695	T	0.254	0.56428	.	.	0.187035705434	0.18338	0.8390109747708314	0.83861	0.416103862279	0.42257	0.640063405037	0.58574	T	0.006684	0.06107	T	-0.54695	0.00304	T	-0.554287	0.16916	T	0.0245678350115657	0.01216	T	0.717928	0.33070	T	0.12738082	0.29809	0.15544306	0.36437	0.17947769	0.39020	0.1804072	0.40837	-1.708	0.02250	T	.	.	0.394	0.59516	A	.;.	.;.	3.269895	0.44751	22.0	0.96192195825031146	0.28994	0.94421	0.61111	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999998138105	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	4.565000	0.60552	5.862000	0.50443	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.384	0.74406	832	0.38914	PDZ domain|PDZ domain;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.007591	0.000000	0.003711	0.011858	0.000000	0.000000	0.008850	0.021053	0.1053	1853.39	35	chrX	50695789	.	C	T	1853.39	.	AC=4;AF=0.105;AN=38;DP=651;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.105;MQ=60;QD=34.97;SOR=1.791	GT:AD:DP:GQ:PL	1/1:0,30:30:90:1084,90,0	17	2	0	0
chrX	51618674	51618674	G	A	exonic	CENPVL3	.	nonsynonymous SNV	CENPVL3:NM_001355276:exon1:c.C200T:p.A67V	.	972	545	2	3	0	8	0.00728597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	.	.	.	.	.	.	.	.	0.00146	38	26028	rs538868460	0.0051	0.0021	0.0049	0.0055	0.0185	0.0048	0.0047	0.0118	0.0097	0.0007	0.0025	0.0252	0	0.0008	0.0185	0.0055	0.0059	0.0005	0.0033	0.0035	0.0035	0.0031	0.0047	0.0031	0.0030	0.0042	0.0040	0.0005	0	0.0031	0.0253	0	0	0.0047	0.0047	0.0045	0.0011	.	.	.	0.536	0.09897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.004308492	0.00087	T	.	.	.	.	.	.	.	.	.	0.0970760568449574	0.09638	.	.	.	.	.	0.01623	0.13458	T	.	.	.	.	.	.	.	.	.	0.246775	0.03632	T	0.028518168	0.02202	0.09111467	0.21405	0.028518168	0.02201	0.09111467	0.21404	-5.089	0.37791	T	.	.	0.070	0.03552	B	.	.	-0.144471	0.03387	0.607	0.97837391998570089	0.36305	0.00190	0.01102	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.682707950331134	0.22498	.	.	.	.	.	.	.	.	.	.	.	.	0.0762906	0.17648	2.4	-0.294	0.12196	-1.058000	0.03593	-0.537000	0.08604	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.3043:0.0:0.6957:0.0	7.169	0.24883	238	0.90711	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	2680.56	83	chrX	51618674	.	G	A	2680.56	.	AC=2;AF=0.056;AN=36;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=0.7859;MLEAC=2;MLEAF=0.056;MQ=60;QD=30.81;SOR=1.09	GT:AD:DP:GQ:PL	1/1:0,87:87:99:2707,260,0	17	1	0	1
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	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	.	.	.	.	.	.	.	.	0.1579	4403.4	547	chrX	55146088	.	G	T	4403.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.5;DP=11340;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.409;SOR=0.729	GT:AD:DP:GQ:PL	0/1:532,103:635:99:1409,0,17296	13	0	6	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:70,587:657:75:19397,0,75	0	4	15	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:69,403:472:99:13633,0,608	0	0	19	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:66,234:300:99:7514,0,1785	0	0	19	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:57,177:234:99:5878,0,1640	0	0	19	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2647	7637.88	285	chrX	55146283	.	C	T	7637.88	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-0.157;DP=4808;ExcessHet=5.3738;FS=4.353;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.294;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=-1.518;SOR=1.047	GT:AD:DP:GQ:PL	0/1:154,45:199:99:876,0,5080	8	0	9	2
chrX	66193612	66193612	A	G	exonic	HEPH	.	nonsynonymous SNV	HEPH:NM_014799:exon7:c.A542G:p.E181G,HEPH:NM_001130860:exon8:c.A1352G:p.E451G,HEPH:NM_001282141:exon8:c.A1352G:p.E451G,HEPH:NM_001367232:exon8:c.A1352G:p.E451G,HEPH:NM_001367233:exon8:c.A1352G:p.E451G,HEPH:NM_001367234:exon8:c.A1352G:p.E451G,HEPH:NM_001367236:exon8:c.A1352G:p.E451G,HEPH:NM_001367238:exon8:c.A1352G:p.E451G,HEPH:NM_001367239:exon8:c.A1352G:p.E451G,HEPH:NM_001367240:exon8:c.A1352G:p.E451G,HEPH:NM_001367241:exon8:c.A1352G:p.E451G,HEPH:NM_001367243:exon8:c.A1352G:p.E451G,HEPH:NM_138737:exon8:c.A1505G:p.E502G,HEPH:NM_001367242:exon10:c.A542G:p.E181G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.568696356278	9.5e-05	.	6.136e-05	0	0	0	0	8.96e-05	0	0.0001	3.88e-05	6	154602	rs370005245	3.712e-05	3.643e-05	2.596e-05	6.073e-05	0.0007	2.797e-05	2.463e-05	0.0002	0.0001	0	2.986e-05	0	0	0	0.0007	2.17e-05	0.0001	0.0003	3.571e-05	3.479e-05	5.138e-05	0	0.0004	1.134e-05	6.62e-06	1.497e-05	8.15e-06	0	0	0	0	0	0	0	5.642e-05	0	0.0004	0.236	0.31532	T	0.316	0.28669	T	0.608	0.39540	P	0.261	0.39516	B	0.004773	0.33407	N	0.321794	0.507746	0.31673	N	1.23	0.30720	L	-5.25	0.98917	D	-1.76	0.41618	N	0.322	0.36254	1.145	0.99941	D	0.896	0.96565	D	10	0.336998	0.50829	T	0.568696	0.96091	D	0.492	0.77847	.	.	0.757472733516	0.75526	0.7311849867741608	0.73063	0.100879226984	0.11398	0.36607414484	0.20267	T	0.148885	0.71606	T	-0.0525077	0.44066	T	-0.0183653	0.69136	D	0.082492507994175	0.10303	T	0.757524	0.40040	T	0.14310601	0.32905	0.29635203	0.55667	0.14310601	0.32905	0.29635203	0.55666	-4.989	0.36720	T	.	.	0.080	0.14477	B	.;.;.;.;.;.	.;.;.;.;.;.	2.523362	0.32609	19.09	0.99134256262208509	0.53356	0.95494	0.64944	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.998939071020953	0.38009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	5.39	0.77615	4.166000	0.57992	11.020000	0.84946	0.740000	0.86194	0.906000	0.31575	1.000000	0.68203	0.405000	0.26894	1.0:0.0:0.0:0.0	13.236	0.59397	719	0.55657	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	447.81	36	chrX	66193612	.	A	G	447.81	.	AC=2;AF=0.053;AN=38;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=0.9997;MLEAC=2;MLEAF=0.053;MQ=60;QD=27.99;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,16:16:48:475,48,0	18	1	0	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.07895	199.58	36	chrX	74591813	.	G	A	199.58	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.187;DP=969;ExcessHet=0.3672;FS=3.814;InbreedingCoeff=-0.068;MLEAC=1;MLEAF=0.026;MQ=59.05;MQRankSum=-5.91;QD=0.95;ReadPosRankSum=-2.383;SOR=1.197	GT:AD:DP:GQ:PL	0/1:61,6:67:6:6,0,1956	16	0	3	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.1842	3092.38	36	chrX	74591904	.	A	G	3092.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.755;DP=1934;ExcessHet=2.9153;FS=4.408;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.76;MQRankSum=-11.41;QD=2.06;ReadPosRankSum=3.45;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,29:211:99:0|1:74591902_T_A:670,0,7514:74591902	12	0	7	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.07895	1192.79	36	chrX	74591957	.	C	T	1192.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.316;DP=1805;ExcessHet=0.3672;FS=5.198;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.13;MQRankSum=-13.17;QD=1.86;ReadPosRankSum=-2.357;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,24:240:99:0|1:74591902_T_A:358,0,8998:74591902	16	0	3	0
chrX	101269209	101269209	C	T	exonic	TAF7L	.	nonsynonymous SNV	TAF7L:NM_001168474:exon13:c.G1115A:p.R372H,TAF7L:NM_024885:exon13:c.G1373A:p.R458H	.	2	1488	22	10	0	42	0.0139165	.	.	.	1196264	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00476821	0.0065	0.0040	0.0023	0.0021	0.0004	0.0076	0.0191	0.0122	0.0066558	1029	154602	rs41310729	0.0090	0.0091	0.0090	0.0091	0.0518	0.0089	0.0088	0.0462	0.0440	0.0033	0.0038	0.0166	0.0013	0.0008	0.0518	0.0095	0.0105	0.0108	0.0072	0.0073	0.0073	0.0070	0.0134	0.0068	0.0067	0.0116	0.0109	0.0028	0	0.0134	0.0188	0.0028	0.0005	0.0691	0.0085	0.0125	0.0119	0.541	0.06802	T	0.57	0.09361	T	0.0	0.36386	B	0.0	0.26147	B	0.157777	0.03014	N	1.843890	1	0.08975	N	0.69	0.16971	N	2.51	0.22881	T	0.41	0.04456	N	0.017	0.00308	-1.0478	0.15016	T	0.016	0.06664	T	10	0.002762109	0.00043	T	.	.	.	0.019	0.03383	.	.	0.082315109003	0.07666	0.012499554851310974	0.01208	0.328917698921	0.35008	0.22695505619	0.01750	T	0.026244	0.19463	T	-0.840468	0.00003	T	-0.969662	0.00206	T	0.000724680391291421	0.00007	T	0.556944	0.20320	T	0.015645096	0.00150	0.031745635	0.01806	0.015645096	0.00150	0.031745635	0.01806	-3.2	0.12480	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-1.079520	0.00665	0.019	0.71253380426068835	0.09567	0.00356	0.01829	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999645926751354	0.41316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.33	-8.67	0.00748	-0.483000	0.06616	-2.289000	0.03945	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0979:0.4206:0.3362:0.1452	4.451	0.11041	124	0.95048	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.035368	0.020408	0.029685	0.086957	0.071429	0.035294	0.008850	0.021053	0.05263	794.81	33	chrX	101269209	.	C	T	794.81	.	AC=2;AF=0.053;AN=38;DP=620;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.39;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,28:28:84:822,84,0	18	1	0	0
chrX	102715045	102715045	C	T	exonic	ARMCX5-GPRASP2;GPRASP2	.	nonsynonymous SNV	GPRASP2:NM_001184875:exon4:c.C176T:p.A59V,GPRASP2:NM_138437:exon4:c.C176T:p.A59V,GPRASP2:NM_001004051:exon5:c.C176T:p.A59V,GPRASP2:NM_001184874:exon5:c.C176T:p.A59V,GPRASP2:NM_001184876:exon5:c.C176T:p.A59V,ARMCX5-GPRASP2:NM_001199818:exon7:c.C176T:p.A59V	.	432	1089	0	1	0	2	0.000917431	.	.	.	3436838	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00315173579457	.	.	9.13e-05	0	0	0.0005	0	2.088e-05	0	0.0004	9.06e-05	14	154602	rs1327200158	5.099e-05	5.099e-05	4.22e-05	6.876e-05	0.0004	4.027e-05	3.619e-05	0.0003	0.0003	0.0001	2.84e-05	0	0.0004	0	0	1.781e-05	4.339e-05	0.0004	4.427e-05	4.356e-05	3.858e-05	5.684e-05	0.0004	1.694e-05	1.04e-05	1.063e-05	3.98e-06	6.423e-05	0	0	0	0.0003	0	0	1.877e-05	0	0.0004	0.093	0.31532	T	0.278	0.21812	T	0.0	0.02946	B	0.0	0.01387	B	0.754858	0.06505	N	1.145510	0.999964	0.18878	N	-0.345	0.03330	N	3.12	0.08106	T	-0.6	0.17834	N	0.018	0.00252	-0.9307	0.44036	T	0.012	0.04700	T	10	0.02909705	0.01038	T	0.003152	0.06876	T	0.060	0.17295	0.11	0.02049	0.299427821978	0.29548	0.06551349309367474	0.06490	0.141977382517	0.16002	0.529940009117	0.43025	T	0.003192	0.02596	T	-0.842768	0.00003	T	-1.08756	0.00035	T	0.0121763494116898	0.00195	T	0.433257	0.11819	T	0.034531575	0.03891	0.07837296	0.17547	0.034531575	0.03891	0.07837296	0.17547	-2.902	0.09163	T	.	.	0.092	0.13503	B	.;.;.	.;.;.	0.970364	0.13472	9.984	0.82212647663841387	0.14076	0.20204	0.20953	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.819541030610609	0.24499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6	1.82	0.24209	1.859000	0.39058	.	.	-0.715000	0.03906	0.468000	0.26706	0.144000	0.23118	0.502000	0.29062	0.0929:0.1525:0.5967:0.158	4.346	0.10568	228	0.91137	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3216.81	33	chrX	102715045	.	C	T	3216.81	.	AC=2;AF=0.053;AN=38;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.23;SOR=0.88	GT:AD:DP:GQ:PL	1/1:0,103:103:99:3244,309,0	18	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:29,17:51:78:78,0,459	2	0	17	0
chrX	149546789	149546789	G	A	exonic	EOLA1	.	nonsynonymous SNV	EOLA1:NM_001171909:exon4:c.G304A:p.D102N,EOLA1:NM_001171907:exon5:c.G304A:p.D102N,EOLA1:NM_001171908:exon5:c.G304A:p.D102N,EOLA1:NM_001324274:exon5:c.G304A:p.D102N,EOLA1:NM_001324275:exon5:c.G304A:p.D102N,EOLA1:NM_001324276:exon5:c.G304A:p.D102N,EOLA1:NM_001324277:exon5:c.G304A:p.D102N,EOLA1:NM_001324278:exon5:c.G304A:p.D102N,EOLA1:NM_001324279:exon5:c.G304A:p.D102N,EOLA1:NM_001324280:exon5:c.G304A:p.D102N,EOLA1:NM_178124:exon5:c.G304A:p.D102N	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00101751622767	0.0003	0.000264901	0.0006	0.0002	0	0.0002	0	0.0005	0	0.0025	0.0005498	85	154602	rs141148310	0.0004	0.0004	0.0003	0.0005	0.0039	0.0004	0.0004	0.0024	0.0020	0.0001	0.0002	0.0043	0	0	0.0039	0.0002	0.0008	0.0024	0.0005	0.0005	0.0005	0.0006	0.0022	0.0004	0.0004	0.0015	0.0013	9.918e-05	0	0.0022	0.0050	0	0	0	0.0003	0.0013	0.0008	0.21	0.19639	T	0.365	0.16717	T	0.109	0.26142	B	0.009	0.14300	B	0.950486	0.07653	N	1.024090	1	0.08975	N	1.43	0.35840	L	1.91	0.23283	T	-1.18	0.30140	N	0.029	0.05414	-1.0208	0.23454	T	0.056	0.23565	T	10	0.007181227	0.00163	T	0.001018	0.01120	T	0.048	0.13305	.	.	0.23798241625	0.23396	0.32840744348649764	0.32753	1.15193762352	0.79231	.	.	.	0.036296	0.24050	T	-0.812396	0.00006	T	-0.945585	0.00277	T	0.00661153466416624	0.00074	T	0.565243	0.22167	T	0.15605037	0.35236	0.086282216	0.19980	0.15605037	0.35235	0.086282216	0.19980	-5.834	0.45093	T	.	.	0.076	0.07460	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.153115	0.15411	11.83	0.94954493500231552	0.25865	0.13384	0.17825	N	AEFDGCI	.	.	.	.	.	.	.	.	.	5.79061404487817E-4	0.07363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.02	3.16	0.35406	2.925000	0.48580	.	.	-0.776000	0.03386	0.373000	0.25949	0.000000	0.08366	0.000000	0.00833	0.1008:0.1736:0.7256:0.0	6.753	0.22682	912	0.21483	ASCH domain;ASCH domain;ASCH domain;ASCH domain;ASCH domain;.;.;.;.;ASCH 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	0.004494	0.000000	0.000000	0.011364	0.000000	0.000000	0.014085	0.005405	0.05263	2231.81	39	chrX	149546789	.	G	A	2231.81	.	AC=2;AF=0.053;AN=38;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=41.69;QD=28.25;SOR=1.207	GT:AD:DP:GQ:PL	1/1:0,79:79:99:2259,237,0	18	1	0	0